{"version":"2026-09-01","fields":["id","label","synonyms","is_a"],"id_format":"integer n means HP:%07d","t":[[1,"All",[],[]],[2,"Abnormality of body height",[],[1507]],[3,"Multicystic kidney dysplasia",["Multicystic dysplastic kidney","Multicystic kidneys","Multicystic renal dysplasia"],[107]],[5,"Mode of inheritance",["Inheritance"],[1]],[6,"Autosomal dominant inheritance",["Autosomal dominant","monoallelic_autosomal","Autosomal dominant form","Autosomal dominant type"],[34345]],[7,"Autosomal recessive inheritance",["Autosomal recessive","biallelic_autosomal","Autosomal recessive form","Autosomal recessive predisposition"],[34345]],[8,"Abnormal morphology of female internal genitalia",["Abnormality of female internal genitalia"],[812,10460]],[9,"Functional abnormality of the bladder",["Poor bladder function"],[14]],[10,"Recurrent urinary tract infections",["Frequent urinary tract infections","Recurrent UTIs","Repeated bladder infections","Repeated urinary tract infections","Urinary tract infections","Urinary tract infections, recurrent"],[2719,5210135]],[11,"Neurogenic bladder",["Lack of bladder control due to nervous system injury"],[9]],[12,"Urinary urgency",["Overactive bladder","Urgent micturition","Overactive bladder syndrome","Urgency frequency syndrome"],[9]],[13,"Hypoplasia of the uterus",["Hypoplastic uterus","Rudimentary uterus","Small uterus","Underdeveloped uterus"],[8684]],[14,"Abnormality of the bladder",[],[10936]],[15,"Bladder diverticulum",["Bladder diverticula"],[25487]],[16,"Urinary retention",["Increased post-void residual urine volume"],[9]],[17,"Nocturia",["Nycturia"],[9]],[19,"Urinary hesitancy",["Difficulty with flow"],[9]],[20,"Urinary incontinence",["Bladder incontinence","Loss of bladder control"],[9,31064]],[21,"Megacystis",[],[10955]],[22,"Abnormal male internal genitalia morphology",[],[812,10461]],[23,"Inguinal hernia",[],[4299]],[24,"Prostatitis",["Inflammation of the prostate"],[8775,12649]],[25,"Functional abnormality of male internal genitalia",[],[12874]],[26,"Male hypogonadism",["Decreased function of male gonad"],[25,135]],[27,"Azoospermia",["Absent sperm in semen"],[8669]],[28,"Cryptorchidism",["Cryptorchism","Undescended testes","Undescended testis"],[35]],[29,"Testicular atrophy",["Testicular degeneration"],[35]],[30,"Testicular gonadoblastoma",["Gonadoblastoma, male"],[150,10788]],[31,"Epididymitis",[],[9714,12649]],[32,"Abnormal male external genitalia morphology",["Abnormality of male external genitalia"],[811,10461]],[33,"Ambiguous genitalia, male",["Ambiguous genitalia in males"],[32,62]],[34,"Hydrocele testis",["Hydrocele","Testicular hydrocele"],[35]],[35,"Abnormal testis morphology",["Abnormality of the testis","Anomaly of the testes"],[32]],[36,"Abnormal penis morphology",["Abnormality of the penis"],[32]],[37,"Male pseudohermaphroditism",[],[32]],[39,"Epispadias",[],[100627]],[40,"Long penis",["Enlarged penis"],[36]],[41,"Chordee",[],[6000085]],[42,"Absent external genitalia",[],[811]],[44,"Hypogonadotropic hypogonadism",["Hypogonadotrophic hypogonadism","Low gonadotropins (secondary hypogonadism)","Isolated hypogonadotropic hypogonadism"],[135]],[45,"Abnormal scrotum morphology",["Abnormality of the scrotum"],[32]],[46,"Small scrotum",["Hypoplastic scrotum","Scrotal hypoplasia","Smaller than typical growth of scrotum","Underdeveloped scrotum"],[45,50]],[47,"Hypospadias",["Hypospadia"],[100627]],[48,"Bifid scrotum",["Cleft of scrotum","Scrotal cleft"],[45]],[49,"Shawl scrotum",["Overriding scrotum","Scrotum surrounds penis"],[45]],[50,"Hypoplastic male external genitalia",["Hypoplastic male genitalia","Small male external genitalia","Underdeveloped male genitalia"],[32,3241]],[51,"Perineal hypospadias",[],[47]],[52,"Urethral atresia, male",[],[68]],[53,"Macroorchidism",["Large testicles","Large testis"],[45058]],[54,"Micropenis",["Short penis","Small penis"],[8736]],[55,"Abnormal female external genitalia morphology",["Abnormal female external genitalia","Abnormality of female external genitalia"],[811,10460]],[56,"Abnormal clitoris morphology",["Abnormality of the clit","Abnormality of the clitoris"],[55]],[58,"Abnormal labia morphology",["Abnormality of the labia"],[55]],[59,"Hypoplastic labia majora",["Hypoplasia of labia majora","Small labia majora","Underdeveloped vaginal lips"],[66,12881]],[60,"Clitoral hypoplasia",["Hypoplastic clitoris","Small clitoris","Underdeveloped clit"],[12815,40255]],[61,"Ambiguous genitalia, female",["Atypical appearance of female genitals","Ambiguous genitalia due to virilization"],[55,62]],[62,"Ambiguous genitalia",["Ambiguous external genitalia","Ambiguous external genitalia at birth","Intersex genitalia"],[811]],[63,"Fused labia minora",["Fused inner lips"],[12880]],[64,"Hypoplastic labia minora",["Underdeveloped inner lips"],[66,12880]],[65,"Labial hypertrophy",["Enlarged vaginal lips","Enlargement of the labia","Enlargement of the vaginal lips"],[58]],[66,"Labial hypoplasia",["Hypoplastic labia","Underdeveloped labia"],[58,12815]],[67,"Urethral atresia, female",[],[55,68]],[68,"Urethral atresia",["Absent urethral opening","Urethral opening absent"],[795]],[69,"Abnormality of the ureter",["Abnormality of the ureters","Ureter issue","Ureteral anomalies"],[10935]],[70,"Ureterocele",[],[25633]],[71,"Ureteral stenosis",["Narrowing of the ureter","Ureteric stenosis"],[6000]],[72,"Hydroureter",["Dilated ureter","Megaureter","Swelling of ureter","Ureteral dilatation","Wide ureter","Uroureter"],[25633]],[73,"Ureteral duplication",["Double ureter"],[25633]],[74,"Ureteropelvic junction obstruction",["Pelviureteric junction obstruction","Ureteropelvic junction stenosis"],[71]],[75,"Renal duplication",["Duplex kidney","Duplicated kidney","Extra kidney","Supernumerary kidney"],[5217,12210]],[76,"Vesicoureteral reflux",["Ureteral reflux","Ureteric reflux","VUR","Vesico-ureteral reflux","Vesicoureteric reflux"],[9,25634]],[77,"Abnormality of the kidney",["Abnormal kidney","Renal anomalies","Renal anomaly"],[10935]],[78,"Abnormality of the genital system",["Genital abnormalities","Genital abnormality","Genital anomalies","Genital defects","Abnormality of the reproductive system"],[119]],[79,"Abnormality of the urinary system",["Urinary tract abnormalities","Urinary tract abnormality","Urinary tract anomalies"],[119]],[80,"Abnormality of reproductive system physiology",["Abnormality of genital physiology","Genital functional abnormality"],[78]],[81,"Duplicated collecting system",["Double collecting system","Double urinary collecting systems on intravenous pyelography","Duplex collecting system","Duplicated renal collecting system"],[4742]],[83,"Renal insufficiency",["Renal failure","Renal failure in adulthood"],[12211]],[85,"Horseshoe kidney",["Fused kidneys","Horseshoe kidneys"],[100542]],[86,"Ectopic kidney",["Abnormal kidney location","Displaced kidney","Ectopic kidneys","Renal ectopia"],[100542]],[89,"Renal hypoplasia",["Hypoplastic kidney","Hypoplastic kidneys","Small kidneys","Underdeveloped kidneys"],[8678]],[90,"Nephronophthisis",["juvenile nephronophthisis"],[100957]],[91,"Abnormal renal tubule morphology",["Abnormality of the renal tubule","Morphologic abnormality of the renal tubules"],[12575]],[92,"Renal tubular atrophy",["Renal tubular cell atrophy","Tubular atrophy"],[32599]],[93,"Proteinuria",["High urine protein levels","Protein in urine"],[20129]],[95,"Abnormal renal glomerulus morphology",["Abnormality of renal glomerulus morphology","Morphologic abnormality of the renal glomerulus"],[31263]],[96,"Glomerular sclerosis",["Renal glomerular fibrosis","Glomerulosclerosis"],[95]],[97,"Focal segmental glomerulosclerosis",["Focal and segmental glomerular sclerosis","Focal and segmental glomerulosclerosis","focal glomerulosclerosis"],[96]],[98,"Tall stature",["Accelerated linear growth","Increased body height","Increased linear growth"],[2]],[99,"Glomerulonephritis",["Glomerular nephritis"],[95,123]],[100,"Nephrotic syndrome",["Nephrosis"],[12211]],[103,"Polyuria",["Increased urine output"],[12590]],[104,"Renal agenesis",["Absent kidney","Missing kidney","Renal aplasia"],[8678]],[105,"Enlarged kidney",["Large kidneys","Nephromegaly","Renal enlargement","Large kidney"],[12210]],[107,"Renal cyst",["Kidney cyst","Cystic kidney disease","Cystic kidneys","Renal cysts"],[12210]],[108,"Renal corticomedullary cysts",["Corticomedullary renal cysts","Renal corticomedullary cystic disease"],[107,11035,100957]],[110,"Renal dysplasia",["Dysplastic kidneys","Renal adysplasia"],[12210]],[111,"Renal juxtaglomerular cell hypertrophy/hyperplasia",[],[95]],[112,"Nephropathy",["Kidney damage","Kidney disease"],[12211]],[113,"Polycystic kidney dysplasia",["Polycystic kidneys","Polycystic kidney disease"],[107]],[114,"Proximal tubulopathy",["Proximal renal tubule defect","Proximal renal tubulopathy","Proximal tubular defect","Proximal tubule dysfunction","Selective proximal tubular damage"],[124]],[117,"Renal phosphate wasting",["Decreased renal tubular phosphate reabsorption","Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate","Tubular phosphate reabsorption low"],[12599]],[118,"Phenotypic abnormality",["Organ abnormality"],[1]],[119,"Abnormality of the genitourinary system",["Abnormality of the GU system","Genitourinary abnormality","Genitourinary tract anomalies","Genitourinary tract malformation","Urogenital abnormalities","Urogenital anomalies","Genitourinary disease","Genitourinary dysplasia"],[118]],[121,"Nephrocalcinosis",["Too much calcium deposited in kidneys","Increased calcium level in kidney"],[12210]],[122,"Unilateral renal agenesis",["Absent kidney on one side","Missing one kidney","Single kidney","Unilateral kidney agenesis"],[104]],[123,"Nephritis",["Kidney inflammation"],[12211,12649]],[124,"Renal tubular dysfunction",["Abnormal function of filtrating structures in kidney","Renal tubular defect","Renal tubular disease"],[12211]],[125,"Pelvic kidney",["Sacral kidney"],[86]],[126,"Hydronephrosis",[],[10946]],[127,"Renal salt wasting",["Loss of salt in urine","Renal salt-wasting","Salt wasting","Salt-wasting"],[12591]],[128,"Renal potassium wasting",["Renal K wasting"],[12598]],[130,"Abnormality of the uterus",["Uterine abnormalities","Uterine malformations"],[8]],[131,"Uterine leiomyoma",["Benign uterine leiomyomas","Uterine fibroid"],[10784]],[132,"Menorrhagia",["Abnormally heavy bleeding during menstruation","Abnormally heavy periods","Hypermenorrhea"],[140,1892]],[133,"Gonadal dysgenesis",["Mixed gonadal dysgenesis","Pure gonadal dysgenesis"],[812]],[134,"Female hypogonadism",["Hypogonadism, female"],[135,31066]],[135,"Hypogonadism",["Decreased activity of gonads"],[80,8373]],[136,"Bifid uterus",[],[31105]],[137,"Abnormality of the ovary",["Abnormality of the ovaries","Ovarian disease"],[8]],[138,"Ovarian cyst",["Cystic abnormalities of the ovaries","Cystic ovaries","Ovarian cystic abnormality"],[31065]],[139,"Uterine prolapse",["Sagging uterus"],[31105,100823]],[140,"Abnormality of the menstrual cycle",["Menstrual abnormalities"],[30012]],[141,"Amenorrhea",["Abnormal absence of menstruation"],[140]],[142,"Abnormal vagina morphology",["Vaginal malformation"],[8]],[143,"Rectovaginal fistula",["Abnormal connection between rectum and vagina"],[4320,100590]],[144,"Decreased fertility",["Abnormal fertility"],[80]],[145,"Transverse vaginal septum",["Transverse vaginal membrane"],[1153]],[147,"Polycystic ovaries",["Polycystic ovary","Sclerocystic ovaries","Polycystic ovary disease"],[138]],[148,"Vaginal atresia",["Abnormally closed or absent vagina"],[142,1827]],[149,"Ovarian gonadoblastoma",["Gonadoblastoma, female"],[150,100615]],[150,"Gonadoblastoma",[],[812,100728]],[151,"Aplasia of the uterus",["Absent uterus","uterus absent"],[8684]],[152,"Abnormality of head or neck",["Head and neck abnormality"],[118]],[153,"Abnormality of the mouth",["Abnormal mouth"],[271]],[154,"Wide mouth",["Broad mouth","Large mouth","Large oral aperture","Macrostomia"],[11337]],[155,"Oral ulcer",["Mouth sore","Mouth ulcer","Oral mucosal ulceration"],[31446]],[157,"Abnormality of the tongue",["Abnormal tongue","Glossal abnormality","Lingual abnormality","Tongue abnormality"],[153]],[158,"Macroglossia",["Glossal hypertrophy","Lingual hyperplasia","Lingual hypertrophy","Abnormally large tongue","Hyperplasia of the tongue","Hypertrophy of the tongue","Increased size of tongue","Large tongue","Tongue hypertrophy"],[3712,30809]],[159,"Abnormal lip morphology",["Abnormal lip","Abnormality of the lip","Lip abnormality","Anomaly of lip","Deformity of lip","Malformation of lip"],[163]],[160,"Narrow mouth",["Microstomia","Small mouth","Small oral aperture"],[11337]],[161,"Median cleft upper lip",["Central cleft upper lip","Midline cleft lip"],[204]],[162,"Glossoptosis",["Posterior displacement of the tongue","Lingual retraction","Retraction of the tongue"],[30809]],[163,"Abnormal oral cavity morphology",["Abnormality of the oral cavity"],[31816]],[164,"Abnormality of the dentition",["Abnormal dentition","Abnormal teeth","Dental abnormalities","Dental abnormality","Dental anomalies","Abnormality of the teeth","Dental problem","Dental problems","Tooth abnormalities"],[153]],[166,"Severe periodontitis",["Severe gum disease","Early-onset aggressive periodontitis","Prepubertal periodontitis","Severe aggressive periodontitis","Severe periodontal disease","Severe pyorrhea"],[20341]],[168,"Abnormal gingiva morphology",["Abnormality of the gingiva","Abnormality of the gums","Gingival abnormality"],[11830]],[169,"Gingival fibromatosis",["Gingival fibroma","Gingival fibrous nodules","Hereditary gingival fibromatosis","Idiopathic gingival hyperplasia"],[168,10614]],[171,"Microglossia",["Abnormally small tongue","Decreased size of tongue","Hypoglossia","Hypoplasia of the tongue","Hypoplastic tongue","Lingual hypoplasia","Rudimentary tongue","Small tongue","Underdevelopment of the tongue"],[10295]],[172,"Abnormal uvula morphology",["Abnormality of palatine uvula","Abnormality of the uvula"],[100736]],[174,"Abnormal palate morphology",["Abnormality of the palate","Abnormality of the roof of the mouth","Palatal anomaly","Palate abnormality"],[163]],[175,"Cleft palate",["Cleft secondary palate","Cleft hard and soft palate","Cleft of hard and soft palate","Cleft of palate","Cleft roof of mouth","Palatoschisis","Uranostaphyloschisis"],[174,202]],[176,"Submucous cleft hard palate",["Partial thickness cleft hard palate"],[410005,5201016]],[177,"Abnormal upper lip morphology",["Abnormality of upper lip","Anomaly of the upper lip","Deformity of the upper lip","Malformation of the upper lip"],[159]],[178,"Abnormal lower lip morphology",["Abnormality of lower lip","Anomaly of the lower lip","Deformity of the lower lip","Malformation of the lower lip"],[159]],[179,"Thick lower lip vermilion",["Full lower lip vermilion","Increased height of lower lip vermilion","Increased volume of lower lip","Increased volume of lower lip vermilion","Plump lower lip","Prominent lower lip","Thick vermilion border of lower lip","Prominent lower lip vermilion","Thick red part of the lower lip","Full lower lip","Thick lower lip"],[178,12471]],[180,"Lobulated tongue",["Bumpy tongue","Lingual lobules","Lobulate tongue"],[30809]],[182,"Movement abnormality of the tongue",["Abnormality of lingual movement"],[30810]],[183,"Tongue muscle weakness",[],[182]],[185,"Cleft soft palate",["Cleft muscular palate","Cleft of soft palate","Cleft velum"],[175,100736]],[187,"Broad alveolar ridges",["Broad alveolar margins","Widened alveolar ridges","Broad alveolar processes of jaw","Wide alveolar margins","Wide alveolar processes of jaw","Wide gum ridges"],[6477]],[188,"Short upper lip",["Decreased height of upper lip","Decreased upper labial height","Decreased upper labial length","Decreased vertical length of upper lip","Shortening of upper lip","Vertical deficiency of upper lip"],[177]],[189,"Narrow palate",["Decreased palatal width","Decreased transverse dimension of palate","Narrow roof of mouth"],[174]],[190,"Abnormal oral frenulum morphology",["Abnormality of frenum of tongue","Abnormality of lingual frenum","Abnormality of oral frenula","Abnormality of oral frenum"],[163]],[191,"Accessory oral frenulum",["Accessory oral frenum","Extra oral frenulum","Extra oral frenum","Multiple oral frenula","Supernumerary oral frenulum","Supernumerary oral frenum"],[190]],[193,"Bifid uvula",["Bifid palatine uvula","Cleft of uvula","Cleft uvula","Forked uvula","Split uvula","Uvula bifida"],[172]],[194,"Open mouth",["Gaped jawed appearance","Gaped mouthed appearance","Slack jawed appearance","Open mouth appearance"],[11338]],[196,"Lower lip pit",[],[178,100269]],[197,"Abnormal parotid gland morphology",["Abnormality of parotid gland","Anomaly of the parotid gland"],[10286]],[198,"Absence of Stensen duct",["Absence of parotid duct","Absent stensen duct","Failure of development of parotid duct","Failure of development of stensen duct","Missing parotid duct","Missing stensen duct","Agenesis of parotid duct","Agenesis of stensen duct"],[197]],[199,"Tongue nodules",["Lingual nodules"],[30809]],[200,"Short lingual frenulum",["Hypoplasia of lingual frenulum","Hypoplasia of lingual frenum","Hypoplasia of tongue frenulum","Hypoplasia of tongue frenum","Deficiency of lingual frenulum","Short lingual frenum","Short tongue frenulum","Short tongue frenum","Tight lingual frenulum"],[190]],[201,"Pierre-Robin sequence",["Pierre Robin sequence","Pierre-robin anomaly","Pierre-robin deformity","Pierre-robin malformation","Robin sequence"],[31816]],[202,"Orofacial cleft",["Cleft of the mouth","Oral cleft","Oral clefting","Cleft lip, cleft palate","Cleft lip/palate"],[163,5201015]],[204,"Cleft upper lip",["Cheiloschisis of upper lip","Harelip","Cleft of upper lip"],[177,410030]],[205,"Pursed lips",["Tightly closed lips"],[11338]],[206,"Glossitis",["Inflammation of the tongue","Lingual inflammation","Smooth swollen tongue"],[30809]],[207,"Triangular mouth",["Triangular shaped mouth","Triangular shaped oral aperture"],[11338]],[211,"Trismus",["Decrease in jaw mobility","Decrease in jaw movement","Decrease in jaw opening","Decrease in mandibular mobility","Decrease in mandibular movement","Decrease in mandibular opening","Limited jaw mobility","Limited jaw movement","Limited jaw opening","Limited mandibular mobility","Limited mandibular opening","Limited mouth opening","Lockjaw","Pain of muscles of mastication"],[277]],[212,"Gingival overgrowth",["Gingival enlargement","Gingival hyperplasia","Gum enlargement","Gum hypertrophy","Hypertrophic gingivitis","Oral soft tissue hyperplasia"],[168]],[214,"Lip telangiectasia",["Labial telangiectasia","Lip telangiectases","Telangiectasia of the lips","Angioectasias of the lip","Labial angioectasias","Spider veins of the lip"],[159,228]],[215,"Thick upper lip vermilion",["Full upper lip","Full upper lip vermilion","Increased height of upper lip vermilion","Increased volume of upper lip","Increased volume of upper lip vermilion","Plump upper lip","Prominent upper lip","Thick upper lip","Thick vermilion border of upper lip","Prominent upper lip vermilion","Thick red part of the upper lip"],[11339,12471]],[216,"Broad secondary alveolar ridge",["Secondary alveolar ridges"],[187]],[217,"Xerostomia",["Decreased salivary flow","Dry mouth","Dry mouth syndrome","Reduced salivation"],[100755]],[218,"High palate",["Elevated palate","High arched palate","High, arched palate","High-arched palate","Increased palatal height","Palate high-arched","Palate, high-arched","Ogival palate"],[174]],[219,"Thin upper lip vermilion",["Decreased height of upper lip vermilion","Decreased volume of upper lip","Decreased volume of upper lip vermilion","Thin upper lip","Thin vermilion border of upper lip","Thin red part of the upper lip","Thin upper lips"],[233,11339]],[220,"Velopharyngeal insufficiency",["Velopharyngeal dysfunction","Velopharyngeal incompetence"],[100736]],[221,"Furrowed tongue",["Fissured tongue","Grooved tongue","Lingua plicata","Lingual furrow","Plicated tongue","Prominent tongue grooves","Scrotal tongue"],[30809]],[222,"Gingival hyperkeratosis",["Hyperkeratosis, gingival"],[168,962]],[223,"Abnormality of taste sensation",[],[12638,30810]],[224,"Hypogeusia",["Decreased taste","Decreased taste sensation"],[223]],[225,"Gingival bleeding",["Bleeding gums","Gingival haemorrhage","Gingival hemorrhage","Gingivorrhagia"],[168,1892]],[227,"Tongue telangiectasia",["Lingual telangiectasia","Angioectasias of the tongue","Lingual angioectasias","Spider veins of the tongue"],[228,30809]],[228,"Oral cavity telangiectasia",["Oral cavity teleangiectasia","Angioectasias of the mouth","Angioectasias of the oral cavity","Spider veins of the mouth","Spider veins of the oral cavity"],[11830,100579]],[230,"Gingivitis",["Gingival inflammation","Inflamed gums","Red and swollen gums"],[168,5210280]],[232,"Everted lower lip vermilion",["Drooping lower lip","Eclabium of lower lip","Everted lower lip","Everted prominent lower lip","Outward turned lower lip","Protruding lower lip"],[178,12472]],[233,"Thin vermilion border",["Decreased volume of lip","Decreased volume of lip vermillion","Thin lips","Thin vermillion","Thin vermilion borders"],[159]],[234,"Abnormality of the head",["Abnormal head","Head abnormality"],[152]],[235,"Abnormal cranial suture/fontanelle morphology",["Abnormality of the fontanelles or cranial sutures"],[929]],[236,"Abnormal anterior fontanelle morphology",["Abnormality of the anterior fontanelle","Abnormality of the forehead soft spot"],[11328]],[237,"Small anterior fontanelle",["Small anterior fontanel","Small forehead fontanel"],[236]],[238,"Hydrocephalus",["Hydrocephaly","Nonsyndromal hydrocephalus","Too much cerebrospinal fluid in the brain"],[2118,2921]],[239,"Large fontanelles",["Enlarged fontanelles","Large fontanel","Large fontanelle","Large fontanels","Persistent wide fontanel","Wide fontanelles","Large bregma sutures","Large, late-closing fontanelle","Wide bregma sutures"],[11328]],[240,"Abnormality of skull size",["Abnormality of head size","Abnormality of cranium size"],[929]],[242,"Parietal bossing",["Biparietal bossing","Bossing of parietal bone"],[2696]],[243,"Trigonocephaly",["Triangular head shape","Wedge shaped head","Triangular cranium shape","Triangular skull shape","Wedge shaped cranium","Wedge shaped skull"],[2683]],[244,"Brachyturricephaly",["Brachy-turricephaly","High, prominent forehead","Turribrachycephaly"],[248,262]],[245,"Abnormal paranasal sinus morphology",["Abnormality of the sinuses","Abnormality of the sinuses of the head","Abnormality of the paranasal sinuses"],[2087,11821]],[246,"Sinusitis",["Sinus infection","Sinus inflammation","Sinus disease"],[245,12649,5210121]],[248,"Brachycephaly",["Broad cranium shape","Broad head shape","Broad skull shape","Wide cranium shape","Wide head shape","Wide skull shape","Short and broad skull"],[2683]],[250,"Dense calvaria",["Dense skull cap"],[2683,4330]],[252,"Microcephaly",["Abnormally small head","Decreased size of head","Small head","Small skull","Abnormally small cranium","Abnormally small skull","Decreased circumference of cranium","Decreased size of cranium","Decreased size of skull","Reduced head circumference","Small head circumference","small cranium","small calvarium"],[7364,40195]],[253,"Progressive microcephaly",["Microcephaly, postnatal, progressive","Microcephaly, progressive","Progressively abnormally small cranium","Progressively abnormally small skull"],[5484]],[255,"Acute sinusitis",[],[246]],[256,"Macrocephaly",["Big calvaria","Big cranium","Big head","Big skull","Increased size of head","Large calvaria","Large cranium","Large skull","Increased size of cranium","Increased size of skull","Large head","Large head circumference","Macrocephalus","Macrocrania","Megacephaly"],[40194]],[260,"Wide anterior fontanel",["Large anterior fontanel","Large anterior fontanelle","Large open anterior fontanel","Large open anterior fontanelle","Wide anterior fontanelle","Wide open anterior fontanelle","Wider-than-typical soft spot of skull","Large anterior fontanels"],[236,239]],[262,"Turricephaly",["Tall shaped head","Tall shaped cranium","Tall shaped skull","Tower cranium shape","Tower skull shape","Turricephalus"],[2683]],[263,"Oxycephaly",["Acrocephaly"],[262]],[264,"Abnormal mastoid morphology",["Abnormality of mastoid process of temporal bone","Abnormality of the mastoid"],[929]],[265,"Mastoiditis",[],[264]],[267,"Cranial asymmetry",["Asymmetry of head","Uneven head shape","Asymmetry of cranium","Cranial vault asymmetry","Abnormality of cranial vault shape","Abnormality of cranium shape","Abnormality of head shape","Malformation of cranial vault shape","Malformation of cranium shape","Malformation of head shape"],[2683]],[268,"Dolichocephaly",["Narrow cranium shape","Narrow head shape","Narrow skull shape","Turridolichocephaly","Long, narrow head","Tall and narrow skull","Large dolichocephalic skull"],[2683]],[269,"Prominent occiput",["Prominent back of the head","Prominent posterior head","Protruding back of the head","Prominent back of the skull","Prominent posterior cranium","Prominent posterior skull","Protruding occiput"],[11217]],[270,"Delayed cranial suture closure",["Broad late closing cranial sutures","Delayed closure of fontanel","Delayed closure of fontanelles","Delayed closure of fontanels","Delayed closure of the fontanelles","Delayed fontanel closure","Delayed fontanelle closure","Late closing fontanelles","Late closure of fontanelle","Late-closing fontanelle","Open sutures"],[11329]],[271,"Abnormality of the face",["Abnormality of the countenance","Abnormality of the physiognomy","Abnormality of the visage","Abnormal face","Facial abnormality","Anomaly of face","Anomaly of the face","Disorder of face","Disorder of the face","Facial anomaly"],[234]],[272,"Malar flattening",["Decreased size of malar bone","Depressed malar region","Flat cheekbone","Malar hypoplasia","Underdevelopment of malar bone","Zygomatic flattening","Hypotrophic malar bone"],[10668]],[273,"Facial grimacing",[],[5324]],[274,"Small face",["Facial hypoplasia","Hypoplasia of face","Microface","Microfacies","Short and narrow face","Small facies"],[1999]],[275,"Narrow face",["Decreased breadth of face","Decreased horizontal dimension of face","Decreased transverse dimension of face","Decreased width of face","Horizontal deficiency of face","Horizontal hypoplasia of face","Horizontal insufficiency of face","Narrow facies","Thin facies","Transverse deficiency of face","Transverse hypoplasia of face","Transverse insufficiency of face","Thin face"],[274]],[276,"Long face",["Elongation of face","Increased height of face","Increased length of face","Increased vertical dimension of face","Long facies","Vertical Facial Excess","Vertical elongation of face","Vertical enlargement of face","Vertical excess of face","Vertical hyperplasia of face","Vertical overgrowth of face"],[100729]],[277,"Abnormal mandible morphology",["Abnormality of the lower jaw bone","Abnormality of the mandible","Anomaly of the mandible","Deformity of the lower jaw bone","Deformity of the mandible","Malformation of the lower jaw bone","Malformation of the mandible"],[30791]],[278,"Retrognathia",["Lower jaw retrognathia","Lower jaw retrusion","Mandibular retrognathia","Mandibular retrusion","Receding chin","Receding lower jaw","Receding mandible","Retrognathia of lower jaw","Retrusion of lower jaw","Weak chin","Weak jaw","Retrogenia"],[277]],[280,"Coarse facial features",["Coarse face","Coarse facial appearance","Coarse facies","Rounded and heavy facial features","Thickened facial skin with coarse facial features"],[1999]],[282,"Facial edema",["Facial oedema","Facial puffiness","Facial swelling","Swelling of the face"],[969,11799]],[283,"Broad face",["Broad facies","Horizontal excess of face","Horizontal hyperplasia of face","Increased breadth of face","Increased horizontal dimension of face","Increased transverse dimension of face","Increased width of face","Transverse excess of face","Transverse hyperplasia of face","Wide face","Wide facies"],[100729]],[286,"Epicanthus",["Epicanthal fold","Epicanthal folds","Epicanthic folds","Eye folds","Palpebronasal fold","Plica palpebronasalis","Prominent eye folds"],[492]],[287,"Increased facial adipose tissue",["Increased amount of facial adipose tissue","Increased amount of facial fat","Increased volume of facial adipose tissue","Facial fat hyperplasia","Facial fat hypertrophy","Hyperplasia of facial adipose tissue","Hypertrophy of facial adipose tissue"],[291]],[288,"Abnormality of the philtrum",["Abnormal philtrum","Abnormality of the infranasal depression","Abnormality of the paralabial region"],[177]],[289,"Broad philtrum",["Increased breadth of philtrum","Increased horizontal dimension of philtrum","Increased transverse dimension of philtrum","Increased width of philtrum","Wide philtrum"],[288]],[290,"Abnormal forehead morphology",["Abnormality of the forehead","Abnormality of the frontal region of the face","Anomaly of the forehead","Deformity of the forehead","Malformation of the forehead"],[271]],[291,"Abnormality of facial adipose tissue",["Abnormality of facial fat","Deformity of facial adipose tissue","Malformation of facial adipose tissue"],[9124,11799]],[292,"Loss of facial adipose tissue",["Decreased amount of facial adipose tissue","Decreased amount of facial fat","Decreased volume of facial adipose tissue","Loss of facial fat","Loss of facial subcutaneous adipose tissue","Loss of subcutaneous adipose tissue from face"],[291,8887]],[293,"Full cheeks",["Apple cheeks","Big cheeks","Increased size of cheeks","Large cheeks","Chubby cheeks","Hyperplasia of cheeks","Hypertrophy of cheeks","Puffy cheeks"],[4426]],[294,"Low anterior hairline",["Low frontal hairline","Low-set frontal hairline"],[599]],[295,"Doll-like facies",["Doll-like facial appearance"],[1999]],[297,"Facial hypotonia",["Decreased facial muscle tone","Hypotonic facies","Low facial muscle tone","Reduced facial muscle tone","Atony of facial musculature"],[301,1252]],[298,"Mask-like facies",["Amimia","Expressionless face","Lack of facial expression","Mask-like facial appearance","Masklike facies"],[4673]],[300,"Oval face",["Oval facial shape","Oval facies"],[1999]],[301,"Abnormality of facial musculature",["Abnormality of facial muscles","Facial muscle issue"],[11799,40286]],[303,"Mandibular prognathia",["Hypertrophy of lower jaw","Hypertrophy of mandible","Big lower jaw","Big mandible","Enlarged mandible","Enlargement of mandible","Hyperplasia of lower jaw","Increased projection of lower jaw","Increased projection of mandible","Increased size of lower jaw","Large lower jaw","Large mandible","Lower jaw excess","Lower jaw hyperplasia","Macromandible","Mandible prognathism","Mandibular excess","Mandibular hyperplasia","Mandibular macrognathia","Mandibular prognathism","Prognathia","Prognathism","Prominent chin","Prominent jaw","Prominent lower jaw","Prominent mandible","Relative mandibular prognathism","Increased size of mandible"],[277,306]],[306,"Abnormality of the chin",["Abnormality of the menton","Anomaly of the chin","Deformity of the chin","Malformation of the chin"],[271]],[307,"Pointed chin",["Pointed mention region","Pointy chin","Small pointed chin","Witch's chin"],[306]],[308,"Microretrognathia",["Retromicrognathia","Small retruded chin"],[278,347]],[309,"Abnormal midface morphology",["Abnormal morphology of the midface","Abnormality of the midface","Anomaly of the midface","Deformity of the midface","Malformation of the midface"],[271]],[311,"Round face",["Round, full face","Circular face","Round facial appearance","Round facial shape","Round facies"],[1999]],[315,"Abnormality of the orbital region",["Abnormality of the eye region","Anomaly of the orbital region of the face","Deformity of the orbital region of the face","Malformation of the orbital region of the face"],[271]],[316,"Hypertelorism",["Excessive orbital separation","Increased distance between eye sockets","Increased distance between eyes","Increased interpupillary distance","Ocular hypertelorism","Wide-set eyes","Widely spaced eyes","Widened interpupillary distance"],[100886]],[317,"Facial myokymia",["Involuntary facial contraction","Involuntary facial quivering"],[301,2411]],[319,"Smooth philtrum",["Decreased depth of philtrum","Flat philtrum","Indistinct philtrum","Philtrum, smooth","Shallow philtrum","Simple philtrum"],[288]],[320,"Bird-like facies",["Bird-like facial appearance"],[1999]],[321,"Square face",["Square facial shape","Square facies"],[1999]],[322,"Short philtrum",["Decreased height of philtrum","Decreased length of philtrum","Decreased vertical dimension of philtrum","Vertical hypoplasia of philtrum"],[288]],[324,"Facial asymmetry",["Asymmetric facies","Asymmetry of face","Asymmetry of right and left side of face","Crooked face","Unsymmetrical face","Unbalanced face","Unequal sides of face","Uneven face","Uneven sides of face"],[1999]],[325,"Triangular face",["Face with broad temples and narrow chin","Inverted triangular face","Triangular facial shape","Triangular facies"],[1999]],[326,"Abnormal maxilla morphology",["Abnormality of the maxilla","Abnormality of the upper jaw bone","Abnormality of the upper jaw bones","Anomaly of the maxilla","Deformity of the maxilla","Deformity of the upper jaw bones","Malformation of the maxilla","Malformation of the upper jaw bones"],[30791]],[327,"Hypoplasia of the maxilla",["Deficiency of upper jaw bones","Decreased size of maxilla","Decreased size of upper jaw","Hypoplasia of upper jaw bones","Hypoplastic maxillary bones","Maxillary deficiency","Maxillary hypoplasia","Maxillary micrognathia","Maxillary retrognathia","Maxillary retrusion","Micromaxilla","Small maxilla","Small upper jaw","Small upper jaw bones","Upper jaw deficiency","Upper jaw retrusion","Decreased projection of maxilla","Decreased projection of upper jaw","Hypotrophic maxilla","Hypotrophic upper jaw bones","Retrognathia of upper jaw","Retrusion of upper jaw bones"],[326]],[329,"Facial hemangioma",["Facial hemangiomata"],[1028,11799]],[331,"Short chin",["Decreased height of chin","Short lower third of face","Vertical deficiency of chin","Vertical hypoplasia of chin","Small chin"],[306]],[336,"Prominent supraorbital ridges",["Prominent brow","Prominent supraorbital margins","Prominent supraorbital ridge","Protruding supraorbital ridge","Supraorbital hyperostosis","Hyperplasia of supraorbital margins","Hyperplasia of supraorbital ridge","Hypertrophy of supraorbital margins","Hypertrophy of supraorbital ridge"],[100538]],[337,"Broad forehead",["Bitemporal widening","Increased bitemporal dimension","Increased bitemporal width","Increased width of the forehead","Intertemporal widening","Wide forehead"],[290]],[338,"Hypomimic face",["Dull facial expression","Hypomimia","Decreased facial expressions","Decreased facial muscle movement"],[301,4673]],[339,"Pugilistic facies",["Boxer-like facial appearance","Pugilistic facial appearance"],[280]],[340,"Sloping forehead",["Inclined forehead","Posteriorly sloping forehead","Receding forehead"],[290]],[341,"Narrow forehead",["Bitemporal narrowing","Bitemporal narrowness","Bitemporal skull narrowing","Decreased width of the forehead","Intertemporal narrowing","Narrow bitemporal diameter","Narrow bitemporal width","Temporal narrowness"],[290]],[343,"Long philtrum",["Elongated philtrum","Increased height of philtrum","Increased length of philtrum","Increased vertical dimension of philtrum","Vertical hyperplasia of philtrum"],[288]],[346,"Whistling appearance",["Whistling facial appearance"],[205]],[347,"Micrognathia",["Deficiency of lower jaw","Decreased size of lower jaw","Decreased size of mandible","Hypoplasia of lower jaw","Hypoplasia of mandible","Hypoplastic mandible","Hypoplastic mandible condyle","Hypotrophic lower jaw","Hypotrophic mandible","Little lower jaw","Little mandible","Lower jaw deficiency","Lower jaw hypoplasia","Mandibular deficiency","Mandibular hypoplasia","Mandibular micrognathia","Micrognathia of lower jaw","Micromandible","Robin mandible","Severe hypoplasia of mandible","Small jaw","Small lower jaw","Small mandible","Underdevelopment of lower jaw","Underdevelopment of mandible","Decreased projection of lower jaw","Decreased projection of mandible"],[9118]],[348,"High forehead",["Tall forehead"],[290]],[349,"Widow's peak",["Hairline peak","Hairline point","Pointed frontal hairline","Pointed hairline at front of head","V-shaped frontal hairline"],[9890]],[350,"Small forehead",["Decreased size of forehead","Decreased size of frontal region of face","Hypoplasia of forehead","Hypotrophic forehead"],[290]],[356,"Abnormality of the outer ear",["Abnormal pinnae","Abnormality of the auricle","Abnormality of the external ear","External ear malformation","External ear malformations","Malformed pinnae","Outer ear abnormality"],[31703]],[357,"Abnormal location of ears",["External ear position defect"],[377]],[358,"Posteriorly rotated ears",["Ear, posterior angulation, increased","Ears rotated toward back of head","Posteriorly angulated ears","Posteriorly rotated","Posteriorly rotated auricles","Posteriorly-angulated ears","Posteriorly-rotated ears"],[357]],[359,"Abnormality of the inner ear",["Inner ear abnormality"],[31703]],[360,"Tinnitus",["Ringing in ears","Ringing in the ears"],[364]],[362,"Otosclerosis",[],[8628]],[363,"Abnormal earlobe morphology",["Abnormal earlobe","Abnormal lobe of ear","Abnormality of auricular lobule","Abnormality of ear lobe","Abnormality of earlobe","Abnormality of lobulus auriculae"],[377]],[364,"Hearing abnormality",["Abnormal hearing"],[31704]],[365,"Hearing impairment",["Deafness","Hearing defect","Hypacusis","Hearing loss","Hypoacusis"],[364]],[366,"Abnormality of the nose",["Anomaly of the nose","Nasal abnormality","Nasal anomaly","Deformity of the nose","Malformation of the nose","Nasal deformity","Nasal malformation"],[271]],[369,"Low-set ears",["Low set ears","Low-set pinnae","Lowset ears","Melotia"],[357]],[370,"Abnormality of the middle ear",["Middle ear abnormalities","Middle ear abnormality"],[31703]],[371,"Acute otitis media",["Acute middle ear infection"],[388]],[372,"Abnormal auditory canal morphology",["Abnormality of the auditory canal","Auditory canal abnormality"],[356]],[375,"Abnormal cochlea morphology",["Abnormality of cochlea"],[11390]],[376,"Incomplete partition of the cochlea type II",["Cochlear malformation defect (Mondini dysplasia)","Mondini defect","Mondini dysplasia","Mondini malformation"],[11373]],[377,"Abnormal pinna morphology",["Abnormal form of ears","Abnormally shaped ears","Auricular malformation","Deformed auricles","Deformed ears","Dysplastic ears","Malformation of auricle","Malformed auricles","Malformed ears","Malformed external ears","Minor malformation of the auricles","Poorly defined conchae"],[356]],[378,"Cupped ear",["Cup-shaped ears","Simple, cup-shaped ears","Capuchin ears","Cupped ears"],[377]],[381,"Stapes ankylosis",["Stapes fixation"],[8628]],[383,"Abnormal periauricular region morphology",["Abnormality of periauricular region","Abnormality of the region around the ear","Anomaly of the periauricular region","Deformity of the periauricular region","Malformation of the periauricular region"],[4426]],[384,"Preauricular skin tag",["Skin tag in front of the ear","Skin tag on the posterior cheek","Ear tag","Periauricular skin tag","Preauricular acrochordon","Preauricular fibroepithelial polyp","Preauricular skin tags","Preauricular tag","Preauricular tags"],[383,10609]],[385,"Small earlobe",["Hypoplastic earlobes","Hypoplastic lobules","Small earlobes"],[9906]],[387,"Absent earlobe",["Absent ear lobes","Earlobe, absent","Lobeless ears","Lobule aplasia"],[9906]],[388,"Otitis media",["Middle ear infection"],[8609,12649]],[389,"Chronic otitis media",["Chronic infections of the middle ear","Otitis media, chronic","Chronic ear infection","Chronic middle ear infection"],[388]],[391,"Thickened helices",["Thick helix"],[11039]],[394,"Lop ear",[],[377]],[395,"Prominent antihelix",[],[9738]],[396,"Overfolded helix",["Over-folded helices","Overfolded ears","Overfolded helices"],[8544]],[399,"Prelingual sensorineural hearing impairment",["Deafness, sensorineural, prelingual","Prelingual sensorineural deafness"],[11474]],[400,"Macrotia",["Large ears","Large pinnae"],[377]],[402,"Stenosis of the external auditory canal",["Narrow ear canal","External auditory canal stenosis","Narrow auditory canals","Narrow external auditory canals","Narrow external auditory meatus","Narrowing of passageway from outer ear to middle ear","Stenotic external auditory canal"],[372]],[403,"Recurrent otitis media",["Frequent otitis media","Multiple episodes of otitis media","Otitis media, recurrent","Recurrent episodes of otitis media","Recurrent middle ear infection","Susceptibility to otitis media"],[388,2719]],[405,"Conductive hearing impairment",["Conduction deafness","Conductive deafness","Conductive hearing loss","Hearing loss, conductive"],[365,11452]],[407,"Sensorineural hearing impairment",["Hearing loss, sensorineural","Sensorineural deafness","Sensorineural hearing loss"],[365,11389]],[408,"Progressive sensorineural hearing impairment",["Bilateral progressive sensorineural hearing loss","Hearing loss, progressive sensorineural","Hearing loss, sensorineural, bilateral, progressive","Hearing loss, sensorineural, progressive","Progressive bilateral sensorineural hearing loss","Sensorineural hearing loss, progressive"],[407,1730]],[410,"Mixed hearing impairment",["Hearing loss, mixed","Mixed hearing loss"],[405,407]],[411,"Protruding ear",["Otapostasis","Prominent ear","Prominent ears","Protruding ears"],[377]],[413,"Atresia of the external auditory canal",["Absent auditory canals","Absent ear canal","Absent external auditory canals","Atretic auditory canal","Atretic auditory canals","Atretic external auditory canal","Atretic external auditory canals","Auditory canal atresia","External acoustic meatus atresia","External auditory canal atresia","External auditory meatal atresia","External auditory meatus atresia","Atresia of the external auditory canals"],[372]],[414,"Bulbous nose",["Bulbous nasal tip","Potato nose"],[436]],[415,"Abnormal choanae morphology",["Abnormality of the choanae"],[5105]],[417,"Slender nose",[],[5105]],[418,"Narrow nasal ridge",["Decreased width of dorsum of nose","Decreased width of nasal dorsum","Decreased width of nasal ridge","Narrow dorsum of nose","Narrow nasal dorsum","Pinched nose","Thin dorsum of nose","Thin nasal dorsum","Thin nasal ridge"],[11119]],[419,"Abnormal nasal septum morphology",["Abnormality of septum of nose","Abnormality of the nasal septum","Anomaly of nasal septum","Anomaly of septum of nose"],[5105]],[420,"Short nasal septum",["Decreased length of nasal septum","Decreased length of septum of nose","Short septum of nose"],[419]],[421,"Epistaxis",["Bloody nose","Frequent nosebleeds","Nasal haemorrhage","Nasal hemorrhage","Nose bleed","Nose bleeding","Nosebleed"],[366,1892]],[422,"Abnormal nasal bridge morphology",["Abnormality of the bridge of the nose","Abnormality of the nasal bridge","Abnormality of the nasal root","Deformity of the bridge of the nose","Deformity of the nasal bridge","Malformation of the bridge of the nose","Malformation of the nasal bridge"],[5105]],[426,"Prominent nasal bridge",["Elevated nasal bridge","High nasal bridge","Prominent bridge of nose","Prominent nasal root","Protruding bridge of nose","Protruding nasal bridge","Convex bridge of nose","Convex nasal bridge"],[422]],[429,"Abnormal morphology of the nasal alae",["Abnormality of the nasal ala","Abnormality of the nasal alae","Abnormality of the nasal alar cartilage","Deformity of the nasal ala","Deformity of the nasal alar cartilage","Malformation of the nasal ala","Malformation of the nasal alar cartilage"],[10938]],[430,"Underdeveloped nasal alae",["Ala nasi, underdeveloped","Alar cartilage hypoplasia","Decreased size of nasal alae","Hypoplastic alae nasae","Hypoplastic alae nasi","Hypoplastic alar cartilage","Hypoplastic alar nasae","Hypoplastic nares","Hypoplastic nasal alae","Hypoplastic nasal wings","Hypoplastic nostrils","Nasal cartilage hypoplasia","Small nasal alae","Thin hypoplastic alae nasi","Underdeveloped tissue around nostril"],[429,9924]],[431,"Wide nasal bridge",["Broad nasal bridge","Broad nasal root","Broadened nasal bridge","Increased breadth of bridge of nose","Increased breadth of nasal bridge","Increased width of bridge of nose","Increased width of nasal bridge","Nasal bridge broad","Nasal bridge, wide","Wide bridge of nose","Widened nasal bridge","Broad flat nasal bridge"],[422]],[433,"Abnormal nasal mucosa morphology",["Abnormality of mucosa of nose","Abnormality of mucous membrane of nose","Abnormality of nasal mucous membrane","Abnormality of the nasal mucosa"],[5105]],[434,"Nasal mucosa telangiectasia",["Angioectasia of mucosa of nose","Angioectasia of mucous membrane of nose","Angioectasia of nasal mucous membrane","Nasal mucous membrane telangiectasia","Spider veins of mucosa of nose","Spider veins of mucous membrane of nose","Spider veins of nasal mucous membrane","Telangiectasia of mucosa of nose","Telangiectasia of mucous membrane of nose","Telangiectasia of nasal mucous membrane"],[433,100579]],[436,"Abnormal nasal tip morphology",["Abnormality of the nasal tip","Abnormality of tip of nose","Deformity of the nasal tip","Deformity of tip of nose","Malformation of the nasal tip","Malformation of tip of nose"],[10938]],[437,"Depressed nasal tip",["Caved in nasal tip","Depressed tip of nose","Flat nasal tip","Flat tip of nose","Flattened nasal tip","Nasal tip, depressed","Nasal tip, recessed","Nasal tip, retruded","Retruded tip of nose"],[436]],[444,"Convex nasal ridge",["Beaked nose","Beaklike protrusion","Convex dorsum of nose","Convex nasal dorsum","Hooked nose","Polly beak nasal deformity"],[11119]],[445,"Wide nose",["Broad nose","Increased breadth of nose","Increased nasal breadth","Increased nasal width","Increased width of nose"],[5105]],[446,"Narrow nasal bridge",["Narrow bridge of nose","Narrow nasal root","Nasal Bridge, Narrow","Nasal bridge, thin","Pinched bridge of nose","Pinched nasal bridge"],[422]],[447,"Pear-shaped nose",[],[5105]],[448,"Prominent nose",["Big nose","Disproportionately large nose","Increased nasal size","Increased size of nose","Large nose","Pronounced nose","Hyperplasia of nose","Hypertrophy of nose","Nasal hyperplasia","Nasal hypertrophy"],[5105]],[451,"Triangular nasal tip",["Triangular shaped tip of nose"],[436]],[452,"Choanal stenosis",["Coanal stenosis","Narrowing of the rear opening of the nasal cavity"],[415]],[453,"Choanal atresia",["Blockage of the rear opening of the nasal cavity"],[415]],[454,"Flared nostrils",["Flared nasal alae"],[429]],[455,"Broad nasal tip",["Broad tip of nose","Broad, upturned nose","Increased breadth of nasal tip","Increased breadth of tip of nose","Increased width of nasal tip","Increased width of tip of nose","Nasal tip, broad","Nasal tip, wide","Wide tip of nose","Broad upturned nose"],[436]],[456,"Bifid nasal tip",["Bifid tip of nose","Cleft nasal tip","Cleft tip of nose","Notched nasal tip","Notched tip of nose"],[436]],[457,"Depressed nasal ridge",["Depressed dorsum of nose","Depressed nasal dorsum","Flat dorsum of nose","Flat nasal dorsum","Flat nose","Recessed dorsum of nose","Recessed nasal dorsum","Recessed nasal ridge","Retruded dorsum of nose","Retruded nasal dorsum","Retruded nasal ridge"],[11119]],[458,"Anosmia",["Loss of smell","Lost smell"],[4408]],[460,"Narrow nose",["Decreased nasal breadth","Decreased nasal width","Thin nose"],[5105]],[463,"Anteverted nares",["Anteverted nose","Anteverted nostrils","Nasal tip, upturned","Nostrils anteverted","Upturned nares","Upturned nasal tip","Upturned nose","Upturned nostrils","Upturned nasal tips"],[429,5288]],[464,"Abnormality of the neck",["Anomaly of the neck","Deformity of the neck","Malformation of the neck"],[152]],[465,"Webbed neck",["Neck webbing","Pterygium colli"],[25668]],[466,"Limited neck range of motion",["Limited cervical range of motion"],[5986]],[467,"Neck muscle weakness",["Floppy neck","Flaccid neck"],[1324]],[468,"Increased adipose tissue around the neck",["Increased fat around the neck"],[9126,25668]],[470,"Short neck",["Decreased length of neck"],[3319,25668]],[471,"Gastrointestinal angiodysplasia",["GI angiodysplasia"],[4296]],[472,"Long neck",["Cervical elongation","Elongated neck","Increased cervical length","Increased length of neck"],[25668]],[473,"Torticollis",["Cervical dystonia","Loxia","Spasmodic torticollis","Wry neck"],[11006,11442,12179]],[474,"Thickened nuchal skin fold",["Excess nuchal skin","Increased nuchal fold","Increased nuchal fold thickness","Thick nuchal fold","Thickened nuchal skin","Thickened skin folds of neck","Thickened skin over the neck"],[11425,25667]],[475,"Broad neck",["Increased width of neck","Wide neck","Thick neck"],[25668]],[476,"Cystic hygroma",["Cystic hygroma of the neck"],[25668]],[478,"Abnormality of the eye",["Abnormal eye","Eye disease"],[118]],[479,"Abnormal retinal morphology",["Abnormal retina","Abnormality of the retina","Anomaly of the retina","Retina issue","Retinal disease"],[1098]],[480,"Retinal coloboma",["Hole in the back of the eye"],[479,589]],[481,"Abnormal cornea morphology",["Abnormality of the cornea","Corneal abnormalities","Corneal abnormality","Cornela disease"],[4328]],[482,"Microcornea",["Cornea of eye less than 10mm in diameter","Decreased corneal diameter"],[1120]],[483,"Astigmatism",["Abnormal curving of the cornea or lens of the eye"],[539,100691]],[484,"Hyperopic astigmatism",[],[483]],[485,"Megalocornea",["Anterior megalophthalmos","Enlarged cornea","Increased corneal diameter","Macrocornea"],[1120]],[486,"Strabismus",["Cross-eyed","Squint","Squint eyes"],[549]],[488,"Retinopathy",["Noninflammatory retina disease"],[479]],[490,"Deeply set eye",["Deep set eye","Deep-set eyes","Enophthalmos","Ocular depression","Sunken eye","Sunken eyes"],[100886]],[491,"Keratitis",["Corneal inflammation"],[11495,100533]],[492,"Abnormal eyelid morphology",["Abnormality of the eyelid","Abnormality of the eyelids"],[30669]],[493,"Abnormal foveal morphology",["Abnormality of the fovea"],[1103]],[494,"Downslanted palpebral fissures",["Antimongoloid eye slant","Antimongoloid slant of palpebral fissures","Antimongoloid slanted palpebral fissures","Down slanting palpebral fissures","Down-slanted palpebral fissures","Down-slanting palpebral fissure","Down-slanting palpebral fissures","Downslanting palpebral fissure","Downslanting palpebral fissures","Downward slanted palpebral fissures","Downward slanting of the opening between the eyelids","Downward slanting palpebral fissures","Downward-slanting palpebral fissures","Palpebral fissures down-slanted"],[200006]],[495,"Recurrent corneal erosions",["Corneal erosions, recurrent","Recurrent breakdown of clear protective layer of eye","Recurrent corneal ulceration","Epithelial corneal erosions","Recurrent corneal ulcerations"],[200020]],[496,"Abnormality of eye movement",["Abnormal extraocular movement","Abnormal extraocular movements","Abnormal eye motility","Abnormal eye movement","Abnormal eye movements","Abnormal motility of the globe of the eye","Abnormal movement of the globe of the eye","Abnormal ocular movements","Eye movement abnormalities","Eye movement issue","Ocular movement abnormalities","Oculomotor abnormalities"],[12373]],[497,"Globe retraction and deviation on abduction",[],[11347]],[498,"Blepharitis",["Cellulitis of eyelids","Inflammation of eyelids"],[492,100533]],[499,"Abnormal eyelash morphology",["Abnormal eyelashes","Abnormality of the eyelashes","Eyelash abnormality"],[492,1595]],[501,"Glaucoma",[],[12373]],[502,"Abnormal conjunctiva morphology",[],[30669]],[503,"Tortuosity of conjunctival vessels",[],[8054]],[504,"Abnormality of vision",["Abnormality of sight","Vision issue"],[12373]],[505,"Visual impairment",["Impaired vision","Loss of eyesight","Poor vision"],[504]],[506,"Telecanthus",["Corners of eye widely separated","Dystopia canthorum","Increased distance between medial canthi","Increased inner canthal distance","Increased intercanthal distance"],[492]],[508,"Ptosis",["Blepharoptosis","Drooping upper eyelid","Eyelid ptosis","Palpebral ptosis","Eye drop"],[12373]],[509,"Conjunctivitis",["Pink eye","Conjunctivitis, recurrent"],[502,25337,100533]],[510,"Rod-cone dystrophy",["Retinitis pigmentosa","Rod cone dystrophy"],[556]],[511,"Vertical supranuclear gaze palsy",["VSGP","Vertical gaze palsy"],[605]],[512,"Abnormal electroretinogram",["Abnormal ERG","Abnormal electroretinography","ERG abnormal"],[30453]],[514,"Slow saccadic eye movements",["Slow eye movements","Slow saccades","Slow visual tracking"],[570]],[517,"Abnormal lens morphology",["Abnormality of the lens","Lens issue","Lens disease"],[4328]],[518,"Cataract",["Cataracts","Clouding of the lens of the eye","Cloudy lens","Lens opacities","Lens opacity"],[517]],[519,"Developmental cataract",["Bilateral congenital cataracts","Cataract, congenital","Clouding of the lens of the eye at birth","Congenital cataract","Congenital cataracts","Congenital cataracts, bilateral"],[518,7700]],[520,"Proptosis",["Anterior bulging of the globe","Anterior bulging of the globe of eye","Bulging eye","Exophthalmos","Eyeballs bulging out","Ocular proptosis","Prominent eyes","Prominent globes","Protruding eyes","Protrusio bulbi"],[100886]],[522,"Alacrima",["0 mm wetting on Schirmer I test","Absence of tears in the eyes","Absent lacrimal fluids","Absent lacrimation on Schirmer I test","Absent tear flow on Schirmer I test","Absent tear secretion","Absolute aqueous tear deficiency on Schirmer I test"],[633]],[523,"Subcapsular cataract",["Subcapsular cataracts","Subcapsular lenticular cataracts","Subcapsular opacities"],[518]],[524,"Conjunctival telangiectasia",["Conjunctival telangiectases","Small dilated blood vessels near membrane covering front of eye and eyelids","Telangiectasia, conjunctival"],[8054,100579]],[525,"Abnormality iris morphology",["Abnormality of the iris"],[553,4328]],[526,"Aniridia",["Absent iris"],[8053]],[527,"Long eyelashes",["Ciliary trichomegaly","Eyelash trichomegaly","Increased length of eyelashes","Unusually long eyelashes"],[499]],[528,"Anophthalmia",["Absence of eyeballs","Absence of globes of eyes","Anophthalmia, clinical","Clinical anophthalmia, unilateral/bilateral","Failure of development of eyeball","Missing eyeball","Missing globe of eye","No eyeball","No globe of eye","Ocular absence"],[8056,100887]],[529,"Progressive visual loss",["Loss of visual acuity","Progressive loss of vision","Progressive vision loss","Progressive visual acuity loss","Progressive visual impairment","Slowly progressive visual loss","Vision loss, progressive","Visual loss, progressive","Decreased visual acuity, progressive"],[572]],[531,"Corneal crystals",["Corneal deposits"],[7759]],[532,"Abnormal chorioretinal morphology",["Chorioretinal abnormality"],[479,610]],[533,"Chorioretinal atrophy",["Chorioretinal degeneration","Chorioretinal thinning"],[532]],[534,"Abnormal eyebrow morphology",["Abnormality of the eyebrow"],[1595,30669]],[537,"Epicanthus inversus",[],[286]],[538,"Pseudopapilledema",[],[12795]],[539,"Abnormality of refraction",[],[12373]],[540,"Hypermetropia",["Farsightedness","Hyperopia","Long-sightedness"],[539]],[541,"Retinal detachment",["Detached retina"],[479]],[542,"Impaired ocular adduction",[],[496]],[543,"Optic disc pallor",["Pale optic disc","Disc pallor","Pale optic discs"],[12795]],[544,"External ophthalmoplegia",["CPEO","Chronic progressive external ophthalmoplegia","Ophthalmoplegia externa","Paralysis or weakness of muscles within or surrounding outer part of eye","Progressive paralysis or weakness of muscles of eye motility","Progressive paralysis or weakness of muscles of eye movement"],[602]],[545,"Myopia",["Close sighted","Near sighted","Near sightedness","Nearsightedness"],[539]],[546,"Retinal degeneration",["Retina degeneration"],[479]],[548,"Cone/cone-rod dystrophy",["Cone rod dystrophy","Cone-rod retinal dystrophy"],[556]],[549,"Abnormal conjugate eye movement",["Disconjugate eye movements"],[496]],[550,"Undetectable electroretinogram",["Abolished electroretinogram","Absent electroretinogram","Extinction of electroretinogram","Extinguished electroretinogram","No light-evoked response on electroretinogram","Undetectable ERG"],[512]],[551,"Color vision defect",["Abnormal color vision","Abnormal colour vision","Abnormality of color vision","Abnormality of colour vision","Colour vision defect","Disturbed color vision","Disturbed colour vision","Color vision defect, severe","Color vision defects","Colour vision defect, severe","Colour vision defects","Loss in color vision","Loss in colour vision"],[504]],[552,"Tritanomaly",["Blue yellow color blindness","Blue yellow colour blindness","Blue-yellow dyschromatopsia","Dyschromatopsia, blue-yellow","Blue/yellow color vision defect","Blue/yellow colour vision defect"],[11519]],[553,"Abnormal uvea morphology",["Abnormality of the uvea"],[12372]],[554,"Uveitis",[],[553,100533]],[555,"Leukocoria",["Leukokoria","White pupillary reflex"],[615]],[556,"Retinal dystrophy",["Breakdown of light-sensitive cells in back of eye"],[479]],[557,"Buphthalmos",["Enlarged eyeball"],[1087,1090]],[558,"Rieger anomaly",[],[7676]],[559,"Corneal scarring",[],[7957,100699]],[561,"Absent eyelashes",["Atrichia of eyelashes","Failure of development of eyelashes","Agenesis of eyelashes","Aplasia of eyelashes"],[2550,200102]],[563,"Keratoconus",["Bulging cornea","Conical cornea"],[100689,100692]],[564,"Lacrimal duct atresia",["Imperforate nasolacrimal ducts","Nasolacrimal duct atresia","Unopened tear duct"],[11481]],[565,"Esotropia",["Inward turning cross eyed"],[20045,32012]],[567,"Chorioretinal coloboma",["Birth defect that causes a hole in the innermost layer at the back of the eye","Choroidoretinal coloboma","Choroid coloboma","Choroidal coloboma","Coloboma of choroid"],[532,589]],[568,"Microphthalmia",["Decreased size of eyeball","Decreased size of globe of eye","Abnormally small eyeball","Abnormally small globe of eye","Microphthalmos","Nanophthalmos"],[8056,100887]],[570,"Abnormal saccadic eye movements",["Abnormality of saccadic eye movements","Impaired saccades"],[496]],[571,"Hypometric saccades",[],[570]],[572,"Visual loss",["Loss of vision","Vision loss"],[505]],[573,"Retinal hemorrhage",["Retinal bleeding","Retinal haemorrhage","Retinal haemorrhages","Retinal hemorrhages"],[479,11885,31803]],[574,"Thick eyebrow",["Bushy eyebrows","Dense eyebrow","Heavy eyebrows","Hypertrichosis of the eyebrow","Prominent eyebrows","Thick eyebrows","Hypertrichosis of the eyebrows"],[534]],[575,"Scotoma",["Blind spot"],[1123]],[576,"Centrocecal scotoma",[],[575]],[577,"Exotropia",["Outward facing eye ball"],[20049,32012]],[579,"Nasolacrimal duct obstruction",["Blocked tear duct","Lacrimal duct obstruction"],[11481]],[580,"Pigmentary retinopathy",["Pigmentary retinal deposits","Retinal pigment clumping","Retinal pigmentary clumping","Retinal pigmentary degeneration"],[7703]],[581,"Blepharophimosis",["Decreased width of palpebral fissure","Narrow opening between the eyelids"],[200007]],[582,"Upslanted palpebral fissure",["Mongoloid slant","Upslanting palpebral fissures","Upward slanted palpebral fissures","Upward slanting of palpebral fissures","Upward slanting of the opening between the eyelids","Upward slanting palpebral fissures","Upslanted palpebral fissures"],[200006]],[584,"Punctate corneal epithelial erosions",[],[200020]],[585,"Band keratopathy",["Calcific band keratopathy"],[11493]],[586,"Shallow orbits",["Decreased depth of eye sockets","Decreased depth of orbits","Shallow eye sockets","Small shallow orbits"],[520,3000030]],[587,"Abnormal optic nerve morphology",["Abnormality of the optic nerve","Optic nerve issue","optic nerve abnormalities"],[1098]],[588,"Optic disc coloboma",["Coloboma of optic nerve","Optic nerve coloboma"],[589,12795]],[589,"Coloboma",["Notched pupil","Ocular coloboma","Ocular colobomas"],[12372]],[590,"Progressive external ophthalmoplegia",["External ophthalmoplegia, progressive"],[544]],[591,"Abnormal sclera morphology",["Abnormality of the outer white part of eyeball","Abnormality of the sclera"],[12372]],[592,"Blue sclerae",["Blue outer white part of eyeball","Blue sclera","Bluish sclerae","Gray sclerae","Grey sclerae","Whites of eyes are a bluish-gray color","Whites of eyes are a bluish-gray colour"],[591]],[593,"Abnormal anterior chamber morphology",["Abnormality of the anterior chamber","Anterior chamber anomalies","Ocular anterior chamber abnormality"],[4328]],[594,"Shallow anterior chamber",[],[593]],[597,"Ophthalmoparesis",["Extraocular muscle palsy","Extraocular muscle paralysis","Weakness of extraocular eye movement","Weakness of muscles controlling eye movement"],[496]],[598,"Abnormality of the ear",["Ear anomaly"],[118]],[599,"Abnormality of the frontal hairline",["Abnormality of hairline at front of head"],[290,9553]],[600,"Abnormality of the pharynx",[],[2087]],[601,"Hypotelorism",["Abnormally close eyes","Closely spaced eyes","Decreased distance between eye sockets","Decreased distance between eyes","Decreased interpupillary distance","Decreased orbital separation","Ocular hypotelorism"],[100886]],[602,"Ophthalmoplegia",["Eye muscle paralysis","Paralysis of extraocular eye movement"],[597]],[603,"Central scotoma",["Blind spot located at fixation point","Central blind spot","Central scotomata"],[575]],[605,"Supranuclear gaze palsy",["Supranuclear gaze paralysis"],[549]],[606,"Abnormality of the periorbital region",["Abnormality of the region around the eye","Abnormality of the region around the eye socket","Anomaly of the periorbital region","Deformity of the periorbital region","Malformation of the periorbital region"],[271]],[607,"Periorbital wrinkles",["Excess periorbital skin wrinkling","Periorbital rhytids","Periorbital wrinkling","Wrinkles around the eyes"],[606,100678]],[608,"Macular degeneration",[],[546,1103]],[609,"Optic nerve hypoplasia",["Hypoplastic optic nerves","Underdeveloped optic nerves","Double ring sign"],[2977,8058]],[610,"Abnormal choroid morphology",["Abnormality of the choroid","Choroid disease"],[553,1098]],[612,"Iris coloboma",["Cat eye","Coloboma of iris","Coloboma of the iris","Keyhole iris"],[525,589]],[613,"Photophobia",["Extreme sensitivity of the eyes to light","Light hypersensitivity","Photodysphoria"],[504,5200058]],[614,"Abnormal nasolacrimal system morphology",["Abnormality of the nasolacrimal system"],[30669]],[615,"Abnormal pupil morphology",["Abnormal pupillary morphology","Abnormality of the pupil","Pupillary abnormalities","Pupillary abnormality"],[525]],[616,"Miosis",["Constricted pupils","Pupillary constriction"],[7686]],[617,"Abnormality of ocular smooth pursuit",["Abnormal smooth pursuits","Disrupted ocular pursuit movements","Impaired smooth pursuit ocular movements","Irregular visual pursuit movements"],[496]],[618,"Blindness",["Total vision loss","Legal blindness"],[7663]],[619,"Impaired convergence",["Convergence insufficiency"],[549]],[620,"Dacryocystitis",["Dacrocystitis","Infection of the lacrimal sac"],[614]],[621,"Entropion",["Eyelid folded in","Eyelid turned in","Inverted eyelid"],[492]],[622,"Blurred vision",[],[504]],[623,"Supranuclear ophthalmoplegia",[],[602]],[625,"Eyelid coloboma",["Cleft eyelid","Full thickness defect of the eyelid","Notched eyelid"],[11226]],[627,"Posterior embryotoxon",["Embryotoxon"],[8048]],[629,"Periorbital fullness",["Periorbital puffiness","Periorbital swelling","Puffiness around eye","Puffy eyes","Swelling around the eyes","Fullness around the eyes"],[606]],[630,"Abnormal retinal arterial/arteriolar morphology",["Abnormal retinal arteriole morphology","Abnormal retinal artery morphology","Abnormality of retinal arteries","Retinal arterial abnormality","Retinal arteriolar abnormality"],[8046,11004,3000036]],[631,"Retinal arterial tortuosity",["Retinal artery tortuousity"],[630,5116,12841]],[632,"Lacrimation abnormality",["Abnormality of tear production"],[12373]],[633,"Decreased lacrimation",["Decreased tear secretion","Hypolacrimia"],[632]],[634,"Impaired ocular abduction",[],[11347]],[635,"Blue irides",["Blue eyes"],[8034]],[636,"Upper eyelid coloboma",["Cleft upper eyelid","Coloboma of the upper eyelid","Full thickness defect of the upper eyelid","Notched upper eyelid","Upper eyelid colobomas"],[625]],[637,"Long palpebral fissure",["Broad opening between the eyelids","Broad palpebral fissure","Long opening between the eyelids","Long palpebral fissures","Wide opening between the eyelids","Wide palpebral fissure","Wide palpebral fissures"],[200007]],[639,"Nystagmus",["Involuntary, rapid, rhythmic eye movements"],[12547]],[640,"Gaze-evoked nystagmus",[],[639]],[641,"Dysmetric saccades",["Dysmetric eye movements","Dysmetric eye saccades","Uncoordinated eye movement"],[570]],[642,"Red-green dyschromatopsia",["Dyschromatopsia with red-green confusion","Red green color blindness","Red green colour blindness","Red/green color vision defect","Red/green colour vision defect"],[7641]],[643,"Blepharospasm",["Eyelid spasm","Eyelid twitching","Involuntary closure of eyelid","Spontaneous closure of eyelid"],[12179,31879]],[646,"Amblyopia",["Lazy eye","Wandering eye","Wandering eyes"],[7663]],[647,"Sclerocornea",["Hardening of skin and connective tissue"],[7957]],[648,"Optic atrophy",["Optic nerve atrophy","Optic-nerve degeneration"],[12795]],[649,"Abnormality of visual evoked potentials",["Abnormal vision evoked potentials","Abnormal visual evoked potential","Abnormal visual evoked responses","Abnormal visual-evoked potentials","VEP abnormalities"],[30453,430106]],[650,"Abnormal amplitude of pattern reversal visual evoked potentials",[],[100289]],[651,"Diplopia",["Double vision"],[11514]],[652,"Lower eyelid coloboma",["Cleft lower eyelid","Coloboma of lower eyelid","Full thickness defect of the lower eyelid","Lower lid coloboma","Notched lower eyelid"],[625]],[653,"Sparse eyelashes",["Hypotrichosis of eyelashes","Partial absence of eyelashes","Scant eyelashes","Scanty eyelashes","Thin eyelashes"],[8070,200102]],[654,"Decreased light- and dark-adapted electroretinogram amplitude",["Decreased ERG amplitude","Decreased amplitudes on flash visual electroretinogram","Decreased electroretinogram","Decreased electroretinogram amplitude","Decreased electroretinogram response","Flattened or absent electroretinogram","Reduced ERG","Reduced electroretinogram","Reduced or abolished electroretinogram"],[8323]],[656,"Ectropion",["Eyelid folded out","Eyelid turned out","Everted eyelid"],[492]],[657,"Oculomotor apraxia",["Ocular motor apraxia","Defective or absent horizontal voluntary eye movements"],[496,2186]],[658,"Eyelid apraxia",["Difficulty opening the eyelids"],[2186,31879]],[659,"Peters anomaly",[],[7700]],[660,"Lipemia retinalis",[],[8046,30603]],[661,"Palpebral fissure narrowing on adduction",[],[581]],[662,"Nyctalopia",["Night blindness","Night-blindness","Poor night vision","Difficulties with night vision"],[504]],[664,"Synophrys",["Monobrow","Synophris","Unibrow"],[534,2219]],[666,"Horizontal nystagmus",["Nystagmus, horizontal"],[639]],[667,"Phthisis bulbi",[],[12372]],[668,"Hypodontia",["Failure of development of between one and six teeth","Missing between one and six teeth"],[1592]],[670,"Carious teeth",["Caries","Cariosity of teeth","Dental caries","Dental cavities","Early dental caries","Frequent caries","Tooth cavities","Tooth decay","Dental decay","Rotting teeth"],[11061]],[674,"Anodontia",["Anodontia vera","Complete agenesis of all teeth","Complete dental agenesis","Failure of development of all teeth","Complete anodontia","Total anodontia","Missing all teeth","Total absence of all teeth"],[9804]],[675,"Macrodontia of permanent maxillary central incisor",["Hyperplasia of permanent maxillary central incisor","Hypertrophy of permanent maxillary central incisor","Increased size of permanent maxillary central incisor","Increased size of permanent upper central incisor","Large permanent maxillary central incisor","Large permanent upper central incisor","Increased width of permanent maxillary central incisor","Increased width of permanent upper central incisor","Long maxillary central incisors","Prominent upper incisors","Prominent, protruding upper incisors"],[11081]],[677,"Oligodontia",["Failure of development of more than six teeth","Partial anodontia","Missing more than six teeth","Number of teeth decreased by more than six"],[1592]],[678,"Dental crowding",["Inadequate arch length for tooth size","Tooth mass arch size discrepancy","Tooth size discrepancy","Crowded teeth","Dental overcrowding","Overcrowding of teeth"],[692]],[679,"Taurodontia",["Taurodont","Taurodontism","Large elongated pulp chamber"],[6479,6486,11071]],[680,"Delayed eruption of primary teeth",["Delayed eruption of baby teeth","Delayed eruption of deciduous teeth","Delayed eruption of milk teeth","Delayed primary teeth eruption","Late eruption of baby teeth","Late eruption of milk teeth","Late eruption of primary teeth"],[684,6481]],[682,"Abnormal dental enamel morphology",["Abnormal tooth enamel","Abnormality of dental enamel","Enamel abnormalities","Enamel abnormality","Defective tooth enamel","Dystrophic tooth enamel","Malformation of dental enamel","Malformation of tooth enamel"],[11061,3000050]],[683,"Grayish enamel",["Gray colored tooth enamel","Gray tooth shade","Grey coloured tooth enamel","Grey tooth shade","Greyish enamel"],[682,11073]],[684,"Delayed eruption of teeth",["Delayed dental development","Delayed dental eruption","Delayed eruption","Delayed teeth eruption","Delayed tooth eruption","Eruption, delayed","Late eruption of teeth","Late tooth eruption"],[6292]],[685,"Hypoplasia of teeth",["Decreased size of teeth","Underdevelopment of teeth","Hypoplastic teeth"],[11061]],[687,"Widely spaced teeth",["Generalised dental spacing","Generalised spacing of teeth","Generalized dental spacing","Generalized spacing of teeth","Multiple diastemata","Wide-spaced teeth","Widely-spaced teeth"],[692]],[689,"Dental malocclusion",["Bad bite","Bilateral crossbite","Bilateral crossbite malocclusion","Incorrect relation between upper and lower dental arches","Malalignment of upper and lower dental arches","Malocclusion","Malocclusion of teeth","Misalignment of upper and lower dental arches","Occlusion anomaly","Angle class 2 malocclusion","Angle class 3 malocclusion"],[692]],[690,"Agenesis of maxillary lateral incisor",["Absent upper lateral incisors","Failure of development of maxillary lateral incisor","Absence of maxillary lateral incisor","Absence of upper lateral incisor","Missing maxillary lateral incisor","Missing upper lateral incisor"],[200153,200160]],[691,"Microdontia",["Hypotrophic tooth","Decreased size of tooth","Decreased width of tooth","Small teeth","Small tooth","Tooth hypoplasia","Tooth hypotrophy","Underdeveloped tooth"],[6482]],[692,"Tooth malposition",["Abnormality of position of teeth","Abnormal dental position","Abnormal teeth spacing","Abnormality of alignment of teeth","Abnormality of teeth spacing","Crooked teeth","Malaligned teeth","Malposition of teeth","Malpositioned teeth","Misalignment of teeth","Teeth, malposition"],[6482]],[694,"Odontodysplasia",["Ghost teeth","Shell teeth","Teeth with dentinal dysplasia","Teeth with thin dentin and large pulp chambers","Teeth with type iii dentinogenesis imperfecta"],[703]],[695,"Natal tooth",["Born with teeth","Natal teeth","Neonatal teeth","Teeth present at birth"],[6288]],[696,"Delayed eruption of permanent teeth",["Delayed eruption of adult teeth","Delayed eruption of secondary dentition","Delayed eruption of secondary teeth","Delayed permanent dentition"],[684]],[698,"Conical tooth",["Cone shaped tooth","Conoid tooth","Peg shaped teeth","Peg tooth","Peg-shaped teeth","Peg-shaped tooth","Conical teeth","Peg shaped tooth","Pointed tooth"],[6482]],[699,"Diastema",["Gaps between teeth","Dental diastasis","Dental diastema","Diastasis of the teeth","Diastema of the teeth","Gap between teeth"],[692]],[700,"Periapical bone loss",["Dark spot around tooth root on x-ray","Periapical lesion","Bone loss around tooth root","Periapical cyst","Periapical granuloma","Periapical radiolucencies","Periapical radiolucency"],[164]],[703,"Dentinogenesis imperfecta",[],[10299,3000050]],[704,"Periodontitis",["Gum disease","Periodontal disease","Pyorrhea"],[164,168,12649]],[705,"Amelogenesis imperfecta",[],[682]],[706,"Eruption failure",["Unerupted dentition","Failure of eruption of tooth","Pseudo-anodontia","Pseudoanodontia","Unerupted tooth"],[6292]],[707,"Abnormality of the nervous system",["Brain and/or spinal cord issue","Neurologic abnormalities","Neurological abnormality"],[118]],[708,"Atypical behavior",["Behavioral abnormality","Behavioral changes","Behavioral disorders","Behavioral disturbances","Behavioral problems","Behavioral symptoms","Behavioral/psychiatric abnormalities","Behavioural abnormality","Behavioural changes","Behavioural disorders","Behavioural disturbances","Behavioural problems","Behavioural symptoms","Behavioural/Psychiatric abnormality","Psychiatric disorders","Psychiatric disturbances"],[11446]],[709,"Psychosis",[],[5200430]],[710,"Hyperorality",["Hyperoralia","Mouthing"],[5200065]],[711,"Restlessness",["Fidgetiness","Restiveness"],[5200263]],[712,"Emotional lability",["Can't control feelings","Emotional instability","Mood lability"],[20007,31466]],[713,"Agitation",["Psychomotor agitation"],[5200263]],[716,"Depression",["Depressive episode","Depressivity","Depressive disorder"],[745,100851]],[717,"Autism",[],[729]],[718,"Aggressive behavior",["Aggression","Aggressiveness","physical aggression"],[734]],[719,"Inappropriate behavior",["Inappropriate behaviour"],[5200029]],[721,"Lack of spontaneous play",[],[5200104]],[722,"Compulsive behaviors",["OCD","Obsessive compulsive behavior","Obsessive compulsive behaviour","Obsessive compulsive disorder","Obsessive-compulsive behavior","Obsessive-compulsive behaviour","Obsessive-compulsive disorder"],[5200241]],[723,"Restrictive behavior",["Restricted behavior","Restricted behaviour","Restrictive behavior, interests, and activities"],[31432]],[725,"Psychotic episodes",[],[5200430]],[726,"Dementia",["Dementia, progressive","Progressive dementia"],[1268]],[727,"Frontal lobe dementia",[],[726]],[728,"Reduced ability to form peer relationships",["Impaired ability to form peer relationships"],[12760]],[729,"Autistic behavior",["ASD","Autistic behaviour","Pervasive developmental disorder","Autism spectrum disorder","Autism spectrum disorders","Autistic behaviors","Autistic behaviours"],[25783]],[732,"Inflexible adherence to routines",[],[5200130]],[733,"Motor stereotypy",["Abnormal repetitive mannerism","Repetitive behavior","Repetitive behaviour Stereotypic behaviour","Repetitive movements","Repetitive, stereotypic behavior","Stereotyped","Stereotyped behavior","Stereotyped behaviors","Stereotyped behaviour","Stereotyped behaviours","Stereotypic behaviour","Stereotypic behaviours","Stereotypical motor behavior","Stereotypical motor behaviors","Stereotypical motor behaviour","Stereotypical motor behaviours","Stimming","repetitive behaviour"],[31432,6000768]],[734,"Disinhibition",["Impulse control disorders","Lack of self-control"],[5200241,5200263]],[736,"Short attention span",["Easily distracted","Easy distractibility","High distractibility","Poor attention span","Problem paying attention"],[5200044]],[737,"Irritability",["Cranky","Easily annoyed","Easily bothered","Easily upset","Grumpy","Hot-temper","Irritable","Quick temper","Short fuse","Short tempered"],[31467]],[738,"Hallucinations",["Hallucination","Sensory hallucination"],[5200423]],[739,"Anxiety",["Anxiousness","Excessive, persistent worry and fear","Anxiety disease"],[5200230]],[740,"Episodic paroxysmal anxiety",[],[739]],[741,"Apathy",["Lack of feeling, emotion, interest","Lack of feeling, emotion, interest, motivation, initiation","State of indifference"],[745]],[742,"Self-mutilation",["Deliberate self-harm","Self mutilation"],[100716]],[743,"Frontal release signs",["Frontal release reflexes"],[100022]],[744,"Low frustration tolerance",["Intolerance to frustration"],[20007,31466]],[745,"Abnormal diminished volition",["Diminished energy","Diminished motivation","Diminished volitional state","Lack of initiative","Lack of motivation","Lacking in initiative","Lacks initiative"],[25780]],[746,"Delusion",["Delusions"],[25779,5200401]],[748,"Inappropriate laughter",[],[5200029]],[749,"Paroxysmal bursts of laughter",["Paroxysmal laughter"],[748]],[750,"Delayed speech and language development",["Deficiency of speech development","Delayed language development","Delayed speech","Delayed speech acquisition","Delayed speech development","Impaired speech and language development","Impaired speech development","Language delay","Language delayed","Language development deficit","Late-onset speech development","Poor language development","Speech and language delay","Speech and language difficulties","Speech delay","Poor speech acquisition","Poor speech development","Speech difficulties"],[2167,2463,12758]],[751,"Personality changes",["Personality change"],[31466]],[752,"Hyperactivity",["Hyperactive behavior","Hyperactive behaviour","Hyperkinetic disorder","More active than typical"],[734]],[753,"Autism with high cognitive abilities",[],[729]],[756,"Agoraphobia",["Fear of open spaces"],[5200232]],[757,"Lack of insight",["Anosognosia"],[5200401]],[758,"Abnormal nonverbal communicative behavior",["Impaired use of nonverbal behaviors","Impaired use of nonverbal behaviours"],[34434]],[759,"Abnormal peripheral nervous system morphology",["Abnormal peripheral nervous system structure","Peripheral nervous system disease"],[12639]],[762,"Decreased nerve conduction velocity",["Decreased NCV","Decreased nerve conduction velocities","Delayed nerve conduction velocity","Reduced nerve conduction velocities","Slow nerve conduction velocity","Slowed nerve conduction velocities"],[40129]],[763,"Sensory neuropathy",["Damage to nerves that sense feeling","Peripheral sensory neuropathy"],[9830]],[764,"Peripheral axonal degeneration",[],[759]],[765,"Abnormal thorax morphology",["Abnormality of the chest","Abnormality of the thorax","Structural abnormality of the chest wall"],[9121]],[766,"Abnormal sternum morphology",["Abnormality of the sternum","Pectus carinatum or pectus excavatum","Pectus deformities","Pectus deformity","Pectus excavatum or carinatum","Pectus excavatum or pectus carinatum","Pectus excavatum/carinatum","Sternal anomalies"],[765]],[767,"Pectus excavatum",["Funnel chest"],[766]],[768,"Pectus carinatum",["Pigeon chest"],[766]],[769,"Abnormality of the breast",[],[118]],[771,"Gynecomastia",["Enlarged male breast","Gynaecomastia"],[31093]],[772,"Abnormal rib morphology",["Abnormality of the ribs","Rib abnormalities","Rib anomalies"],[1547]],[773,"Short ribs",["Hypoplastic ribs","Rib hypoplasia"],[6712]],[774,"Narrow chest",["Low chest circumference","Narrow shoulders","Narrow thorax","Reduced anterior-posterior chest diameter"],[5257]],[775,"Abnormality of the diaphragm",["Diaphragm issues","Diaphragmatic defect"],[40286]],[776,"Congenital diaphragmatic hernia",["Diaphragmatic hernia"],[775,100790]],[777,"Abnormal thymus morphology",["Abnormality of the thymus"],[818,100763]],[778,"Hypoplasia of the thymus",["Small thymus","Thymic hypoplasia","Thymus hypoplasia"],[10515]],[782,"Abnormal scapula morphology",["Abnormality of the shoulder blade"],[765]],[786,"Primary amenorrhea",[],[141]],[787,"Kidney stone",["Kidney stones","Nephrolithiasis","Renal calculi","Renal stones"],[12210]],[789,"Infertility",[],[144]],[790,"Hematuria",["High urine occult blood","Blood in urine"],[12211,12614]],[791,"Uric acid nephrolithiasis",["Uric acid stones","Uric acid urolithiasis"],[787]],[793,"Membranoproliferative glomerulonephritis",["MPGN","Mesangiocapillary glomerulonephritis"],[99]],[794,"IgA deposition in the glomerulus",["IgA nephropathy"],[30949]],[795,"Abnormality of the urethra",["Urethra issue"],[10936]],[796,"Urethral obstruction",[],[795]],[798,"Oligozoospermia",["Low sperm count","Oligospermia"],[8669]],[799,"Renal steatosis",["Fatty kidney"],[12210]],[800,"Cystic renal dysplasia",["Bilateral cystic dysplasia","Renal cystic dysplasia","Renal dysplasia, cystic"],[107]],[802,"Impotence",["Difficulty getting a full erection","Difficulty getting an erection"],[100639]],[803,"Renal cortical cysts",["Cortical cysts"],[107,11035]],[804,"Xanthine nephrolithiasis",["Urinary xanthine stones","Xanthine stones"],[787]],[805,"Enuresis",[],[9]],[807,"Glanular hypospadias",["Balanic hypospadias"],[3244]],[808,"Penoscrotal hypospadias",[],[47]],[809,"Urinary tract atresia",[],[79]],[811,"Abnormal external genitalia morphology",["Abnormal external genitalia"],[12243]],[812,"Abnormal internal genitalia",[],[12243]],[813,"Bicornuate uterus",["Heart shaped uterus","Heart-shaped uterus","Uterus bicornis"],[31105]],[815,"Hypergonadotropic hypogonadism",["Hypergonadotrophic hypogonadism","Primary hypogonadism"],[135]],[816,"Abnormality of Krebs cycle metabolism",["Abnormality of citric acid cycle","Abnormality of the tricarboxylic cycle"],[12379]],[817,"Reduced eye contact",["Poor eye contact"],[34435]],[818,"Abnormality of the endocrine system",["Endocrine system disease"],[118]],[819,"Diabetes mellitus",[],[818,1952]],[820,"Abnormality of the thyroid gland",["Thyroid abnormality","Thyroid disease"],[818]],[821,"Hypothyroidism",["Low T4","Underactive thyroid"],[2926]],[822,"Hypertension",["Arterial hypertension","Systemic hypertension","High blood pressure"],[32263]],[823,"Delayed puberty",["Delayed pubertal development","Delayed pubertal growth","Pubertal delay"],[1510,8373]],[824,"Decreased response to growth hormone stimulation test",[],[830,31073]],[825,"Hyperinsulinemic hypoglycemia",["Hyperinsulinaemic hypoglycaemia","Hyperinsulinemia hypoglycemia"],[842]],[826,"Precocious puberty",["Early onset of puberty","Early puberty"],[100000]],[828,"Abnormality of the parathyroid gland",["Parathyroid disease"],[818]],[829,"Hypoparathyroidism",["Decreased parathyroid hormone secretion","Low parathyroid hormone"],[11767]],[830,"Anterior hypopituitarism",[],[40075]],[831,"Insulin-resistant diabetes mellitus",["Insulin resistant diabetes","Insulin resistant diabetes mellitus","Insulin-resistant diabetes"],[819,855]],[832,"Primary hypothyroidism",[],[821]],[834,"Abnormality of the adrenal glands",["Adrenal abnormalities","Adrenal gland disease"],[818]],[835,"Adrenal hypoplasia",["Adrenal gland hypoplasia","Hypoplastic adrenal glands","Small adrenal glands","Underdeveloped adrenal glands"],[11732]],[836,"Hyperthyroidism",["Overactive thyroid"],[2926]],[837,"Increased circulating gonadotropin level",["Elevated gonadotropins","Elevated serum gonadotropins","Gonadotropin excess"],[10514,30338]],[839,"Pituitary dwarfism",[],[4322]],[840,"Adrenogenital syndrome",[],[8373]],[841,"Hyperactive renin-angiotensin system",["Increased plasma renin activity"],[847]],[842,"Hyperinsulinemia",["Elevated insulin level"],[11014,40214]],[843,"Hyperparathyroidism",["Elevated blood parathyroid hormone level"],[11767]],[845,"Elevated circulating growth hormone concentration",["Elevated circulating somatotropin concentration","Growth hormone excess","Somatotropin excess"],[10514,32367]],[846,"Adrenal insufficiency",["Hypoadrenalism"],[11733]],[847,"Abnormality of renin-angiotensin system",["Abnormality of the renin-aldosterone axis"],[818]],[848,"Increased circulating renin concentration",["Elevated blood renin level","Elevated plasma renin","Hyperreninemia","Increased circulating renin level","Increased plasma renin","Increased serum renin"],[40084]],[849,"Adrenocortical abnormality",[],[11732]],[851,"Congenital hypothyroidism",["Hypothyroidism, congenital","Underactive thyroid gland from birth"],[821]],[852,"Pseudohypoparathyroidism",[],[11767]],[853,"Goiter",["Enlarged thyroid gland in neck","Goitre","Thyroid goiter","Thyroid goitre"],[11772]],[854,"Thyroid adenoma",[],[100031]],[855,"Insulin resistance",["Body fails to respond to insulin"],[11014]],[857,"Neonatal insulin-dependent diabetes mellitus",[],[819]],[858,"Irregular menstruation",["Irregular menses","Irregular periods","Menstrual irregularities","Menstrual irregularity"],[140]],[859,"Increased circulating aldosterone concentration",["Elevated plasma aldosterone","Increased aldosterone","Increased aldosterone production","Mineralocorticoid excess","Hyperaldosteronism"],[40085]],[860,"Parathyroid hypoplasia",["Small parathyroid glands","Underdeveloped parathyroid glands"],[11768]],[863,"Central diabetes insipidus",["Neurohypophyseal diabetes insipidus"],[873]],[864,"Abnormality of the hypothalamus-pituitary axis",[],[818]],[866,"Euthyroid multinodular goiter",["Euthyroid multinodular goitre"],[9798]],[867,"Secondary hyperparathyroidism",[],[843]],[868,"Decreased fertility in females",["Reduced fertility in females"],[144]],[869,"Secondary amenorrhea",["Previous menstrual periods stop"],[141]],[870,"Increased circulating prolactin concentration",["Hyperprolactinaemia","Hyperprolactinemia","Prolactin excess"],[10514]],[871,"Panhypopituitarism",[],[830]],[872,"Hashimoto thyroiditis",["Chronic lymphocytic thyroiditis","Hashimoto's thyroiditis"],[2960,100646]],[873,"Diabetes insipidus",[],[818]],[875,"Episodic hypertension",["Intermittent high blood pressure"],[822]],[876,"Oligomenorrhea",["Light or infrequent menstrual periods"],[140]],[877,"Insulin-resistant diabetes mellitus at puberty",[],[831]],[878,"11 pairs of ribs",[],[921]],[879,"Short sternum",["Hypoplastic sternum"],[6714]],[882,"Hypoplastic scapulae",["Hypoplastic scapula","Scapular hypoplasia","Short scapulae","Small scapula","Small scapulae","Small shoulder blade"],[6713]],[883,"Thin ribs",["Slender ribs"],[772]],[884,"Prominent sternum",["Sternal protrusion"],[766]],[885,"Broad ribs",["Wide ribs"],[772]],[886,"Deformed rib cage",[],[1547]],[887,"Cupped ribs",["Rib cupping","Rib flaring"],[772]],[888,"Horizontal ribs",[],[772]],[889,"Abnormal clavicle morphology",["Abnormal clavicles","Abnormal collarbone","Abnormality of the clavicle"],[765]],[890,"Long clavicle",["Elongated clavicles","Long clavicles","Long collarbone"],[889]],[891,"Cervical ribs",[],[5815]],[892,"Bifid ribs",["Cleft ribs","Split ribs"],[772]],[893,"Bulging of the costochondral junction",[],[766,919]],[894,"Short clavicles",["Clavicular hypoplasia","Hypoplastic clavicles","Short collarbone","Underdeveloped clavicles"],[6710]],[895,"Lateral clavicle hook",["Handlebar clavicle","Hook-shaped clavicle","Hook-shaped collarbone","Hooked clavicle"],[889]],[896,"Rib exostoses",[],[772,100777]],[897,"Rachitic rosary",[],[766,919]],[900,"Thickened ribs",[],[772]],[902,"Rib fusion",["Fused ribs"],[772]],[904,"Flaring of rib cage",["Anterior flaring of ribs"],[772]],[905,"Progressive clavicular acroosteolysis",["Progressive acroosteolysis of the clavicle"],[889,2797]],[907,"Anterior rib cupping",["Anterior cupping of ribs","Anteriorly splayed ribs"],[887]],[910,"Wide-cupped costochondral junctions",[],[919]],[911,"Flat glenoid fossa",[],[11912]],[912,"Sprengel anomaly",["Congenital, upward displacement of the scapula","High scapula","High shoulder blade","Sprengel deformity"],[782]],[913,"Posterior rib fusion",[],[902]],[914,"Shield chest",["Broad chest"],[100625]],[915,"Pectus excavatum of inferior sternum",["Pectus excavatum inferiorly"],[767]],[916,"Broad clavicle",["Broad clavicles","Broad collarbone"],[889]],[917,"Superior pectus carinatum",["Pectus carinatum superiorly"],[768]],[918,"Scapular exostoses",["Scapulae exostoses","Shoulder bone exostoes"],[782,100777]],[919,"Abnormality of the costochondral junction",["Costochondral juctions abnormal"],[772]],[920,"Enlargement of the costochondral junction",["Costochondral thickening","Enlarged costochondral junctions","Prominent costochondral junction","Wide costochondral junctions","Widened costochondral junction"],[919]],[921,"Missing ribs",["Absent ribs","Decreased rib number"],[6712]],[922,"Posterior rib cupping",["Anterior and posterior rib cupping"],[887]],[924,"Abnormality of the skeletal system",["Skeletal abnormalities","Skeletal anomalies"],[33127]],[925,"Abnormality of the vertebral column",["Abnormal spine","Abnormal vertebral column","Abnormality of the spine","Abnormality of the backbone"],[9121]],[926,"Platyspondyly",["Flat vertebral bodies","Flattened vertebrae","Flattened vertebral bodies"],[3312]],[927,"Abnormality of skeletal maturation",[],[11843]],[929,"Abnormal skull morphology",["Abnormality of the skull","Abnormality of the skull bones"],[234,9121]],[930,"Elevated imprint of the transverse sinuses",["Elevated imprint of occipital bone over the transverse sinuses","Elevated imprint of posterior skull bones over the transverse sinuses","Thinning and bulging of occipital bone over the transverse sinuses","Thinning and bulging of posterior skull bones over the transverse sinuses"],[2693]],[931,"Thinning and bulging of the posterior fossa bones",["Thinning and bulging of posterior fossa bones","Thinning and bulging of posterior skull bones","Thinning and bulging of occipital bone of skull"],[932]],[932,"Abnormal posterior cranial fossa morphology",["Abnormality of the posterior cranial fossa","Abnormality of the posterior fossa","Posterior fossa anomaly"],[2693]],[933,"Posterior fossa cyst at the fourth ventricle",[],[7109,7291]],[934,"Chondrocalcinosis",["Calcium deposits in joints"],[1367,10766,100685]],[935,"Thickened cortex of long bones",["Broad cortex of long bones","Cortical thickening of the long bones","Thickened cortices of long bones"],[11314,100039]],[938,"Osteopenia",["Generalised osteopenia","Generalized osteopenia","Osteopaenia"],[4349]],[939,"Osteoporosis",[],[4349]],[940,"Abnormal diaphysis morphology",["Abnormal shape of shaft of long bone","Abnormality involving the diaphyses of the limbs","Abnormality of shaft of long bone of the limbs","Abnormality of the diaphyses","Anomaly of the limb diaphyses","Anomaly of the limb diaphyses morphology"],[2813,11314]],[941,"Short diaphyses",["Short shaft of long bone"],[940]],[943,"Dysostosis multiplex",[],[11842]],[944,"Abnormal metaphysis morphology",["Abnormality of the wide portion of a long bone"],[2813,11314]],[946,"Hypoplastic ilia",["Small wings of the pelvic girdle","Short and small iliac bones","Small iliac bones"],[2867]],[947,"Dumbbell-shaped long bone",["Dumbbell widening of long bone metaphyses"],[3016]],[951,"Abnormality of the skin",["Dermatopathy","Dermopathy","Skin abnormality"],[1574]],[952,"Jaundice",["Icterus","Yellow skin","Yellowing of the skin"],[1005,1396]],[953,"Hyperpigmentation of the skin",["Cutaneous hyperpigmentation","Hyperpigmented lesion","Increased skin pigmentation","Patchy darkened skin","Skin hyperpigmentation","Melanoderma","Melanodermia"],[1000]],[954,"Single transverse palmar crease",["Simian crease","Simian creases","Simian line","Single flexion crease","Single palmar crease","Single palmar creases","Single transverse palmar creases","Transverse palmar crease"],[10490]],[956,"Acanthosis nigricans",["Darkened and thickened skin","Keratosis nigricans"],[11368]],[957,"Cafe-au-lait spot",["Birthmark","Flat light-brown mark on skin","Cafe au lait spots","Cafe-au-lait macule","Cafe-au-lait macules","Cafe-au-lait spots"],[1034]],[958,"Dry skin",["Xerosis"],[11121]],[960,"Sacral dimple",["Pilonidal dimple","Spinal dimple"],[10767,10781]],[961,"Cyanosis",["Blue discoloration of the skin"],[1005]],[962,"Hyperkeratosis",["Epidermal hyperkeratosis"],[11368]],[963,"Thin skin",[],[8065]],[964,"Eczematoid dermatitis",["Eczema","Dermatitis"],[11123]],[965,"Cutis marmorata",[],[11276]],[966,"Hypohidrosis",["Decreased ability to sweat","Decreased sweating","Impaired sweating","Inadequate sweating","Oligohidrosis","Sweating, decreased"],[7550]],[967,"Petechiae",[],[31365]],[968,"Ectodermal dysplasia",[],[11354]],[969,"Edema",["Soft tissue swelling","Dropsy","Fluid retention","Hydrops","Oedema","Water retention"],[11032]],[970,"Anhidrosis",["Anhydrosis","Lack of sweating","Sudomotor dysfunction","Sweating dysfunction"],[25276]],[971,"Abnormal sweat gland morphology",["Abnormality of the sweat gland","Abnormalities of sweating","Sweat gland disease"],[11138]],[972,"Palmoplantar hyperkeratosis",["Hyperkeratosis of palms and soles","Hyperkeratosis of the palms and soles","Palmoplantar keratoses","Palmoplantar keratosis","Thick palms and soles","Thickened palms and soles","Thickening of the outer layer of the skin of the palms and soles"],[7556,10765]],[973,"Cutis laxa",["Hanging skin","Chalazoderma","Cutaneous laxity","Dermatochalasia","Dermatomegaly","Elastolysis","Generalised elastolysis","Generalized elastolysis","Hypoelastic skin","Inelastic skin","Lax skin","Loose and inelastic skin","Loose skin","Skin laxity"],[8067]],[974,"Hyperextensible skin",["Hyperelastic skin","Skin hyperelasticity","Skin hyperextensibility","Stretchable skin"],[8067]],[975,"Hyperhidrosis",["Diaphoresis","Excessive sweating","Increased sweating","Profuse sweating","Sweating","Sweating profusely","Sweating, increased"],[7550]],[977,"Soft skin",["Velvety skin","Velvety skin texture"],[10647]],[978,"Bruising susceptibility",["Bruisability","Bruise easily","Easy bruisability","Easy bruising"],[1933]],[979,"Purpura",["Blood spots","Red or purple spots on the skin"],[1933]],[980,"Pallor",["Paleness","Skin paleness"],[11121]],[982,"Palmoplantar keratoderma",["Keratoderma","Palmar and plantar keratoderma","Thickening of palms and soles"],[972]],[987,"Atypical scarring of skin",["Atypical scarring"],[11355,100699]],[988,"Skin rash",["Rash"],[11123]],[989,"Pruritus",["Itching","Itchy skin","Skin itching"],[11122]],[991,"Xanthomatosis",["Xanthomata","Yellow bumps of fatty deposits on skin"],[11355]],[992,"Cutaneous photosensitivity",["Photosensitive skin","Photosensitive skin rashes","Photosensitivity","Sensitivity to sunlight","Skin photosensitivity","Sun sensitivity"],[11354]],[993,"Molluscoid pseudotumors",["Molluscoid pseudotumor"],[11355]],[995,"Melanocytic nevus",["Noncancerous mole","Beauty mark","Melanocytic naevus","Melanocytic nevi","Nevocellular nevi","Pigmented naevi","Pigmented nevi"],[3764]],[996,"Facial capillary hemangioma",[],[329,5306]],[997,"Axillary freckling",[],[1480]],[998,"Hypertrichosis",["Excessive hair growth","Increased hair growth on body"],[11362]],[999,"Pyoderma",["Pus-filled lesion"],[5406]],[1000,"Abnormal skin pigmentation",["Abnormal pigmentation","Abnormality of pigmentation","Abnormality of skin pigmentation","Pigmentary changes","Pigmentary skin changes","Pigmentation anomaly"],[11121]],[1001,"Abnormality of subcutaneous fat tissue",["Abnormality of fatty tissue below the skin"],[9124,11354]],[1003,"Multiple lentigines",["Liver spots"],[1034]],[1004,"Lymphedema",["Lymphatic obstruction","Lymphoedema","Onset of lymphedema around puberty","Swelling caused by excess lymph fluid under skin"],[969]],[1005,"Dermatological manifestations of systemic disorders",[],[11354]],[1007,"Hirsutism",["Excessive hairiness"],[11362]],[1008,"Accumulation of melanosomes in melanocytes",[],[11125]],[1009,"Telangiectasia",["Telangiectases","Spider veins"],[11276]],[1010,"Hypopigmentation of the skin",["Hypopigmentation","Hypopigmented skin","Patchy lightened skin","Skin hypopigmentation"],[1000]],[1012,"Multiple lipomas",["Lipomata","Multiple fatty lumps","Lipomas","Lipomatosis"],[12031]],[1013,"Eruptive xanthomas",[],[991]],[1014,"Angiokeratoma",["Angiokeratomas"],[11276]],[1015,"Prominent superficial veins",["Marked subcutaneous veins","Prominent veins"],[2624,7394]],[1017,"Anemic pallor",["Anaemic pallor"],[980]],[1018,"Abnormal palmar dermatoglyphics",[],[7477,40211]],[1019,"Erythroderma",["Red scaly skin caused by inflammatory skin disease","Exfoliative dermititis","Generalised erythroderma","Generalised erythrodermia","Generalized erythroderma","Generalized erythrodermia"],[11123]],[1022,"Albinism",["Achromasia"],[5599,7513]],[1024,"Skin dimple over apex of long bone angulation",[],[10781]],[1025,"Urticaria",["Hives"],[11276]],[1026,"Penetrating foot ulcers",[],[200042]],[1027,"Soft, doughy skin",[],[977]],[1028,"Hemangioma",["Strawberry mark","Hemangiomata"],[100742]],[1029,"Poikiloderma",[],[11121]],[1030,"Fragile skin",["Skin fragility"],[11354]],[1031,"Subcutaneous lipoma",[],[1001,1012,8069]],[1032,"Absent distal interphalangeal creases",["Absence of skin creases over distal interphalangeal joints","Aplasia of the distal interphalangeal creases","Distal finger flexion creases absent"],[6109]],[1033,"Facial flushing after alcohol intake",[],[31284]],[1034,"Hypermelanotic macule",["Hyperpigmented macules","Hyperpigmented spots","Hyperpigmented skin patches"],[7400,12733]],[1036,"Parakeratosis",[],[11368]],[1038,"Warfarin-induced skin necrosis",[],[1005]],[1039,"Atheroeruptive xanthoma",[],[991]],[1040,"Multiple pterygia",[],[1059]],[1041,"Facial erythema",["Blushed cheeks","Blushing","Red face","Red in the face","Rosacea","Ruddy face"],[10783]],[1042,"High axial triradius",[],[1018]],[1043,"Prominent scalp veins",[],[1015,1965,3000036]],[1045,"Vitiligo",["Blotchy loss of skin color","Blotchy loss of skin colour"],[1000]],[1046,"Intermittent jaundice",["Intermittent icterus","Intermittent yellow skin","Intermittent yellowing of skin"],[952]],[1047,"Atopic dermatitis",["Allergic eczema","Atopic dermatitis, chronic","Atopic eczema","Dermatitis, Atopic","Infantile eczema","Neurodermatitis","Prurigo Besnier","Baby eczema"],[964]],[1048,"Cavernous hemangioma",["Cavernous angioma","Cavernous haemangioma","Collection of dilated blood vessels that forms mass"],[1028]],[1049,"Absent dorsal skin creases over affected joints",[],[6143]],[1050,"Plethora",[],[1005]],[1051,"Seborrheic dermatitis",["Seborrhea","Seborrheic eczema","Dysseborrheic dermatitis"],[964]],[1052,"Nevus flammeus",["Nevus simplex","port-wine stain"],[3764,25104]],[1053,"Hypopigmented skin patches",["Patchy loss of skin color","Patchy loss of skin colour"],[1010,11355]],[1054,"Numerous nevi",["Multiple pigmented nevi","Numerous moles"],[3764]],[1055,"Erysipelas",["St. Anthony's Fire"],[11123]],[1056,"Milia",["Milk spot","Millium cyst"],[11355]],[1057,"Aplasia cutis congenita",["Congenital scars","Absence of part of skin at birth","Congenital absence of skin","Cutis aplasia"],[8065]],[1058,"Poor wound healing",[],[11354]],[1059,"Pterygium",["Pterygia"],[1367,11356]],[1060,"Axillary pterygium",["Axillary pterygia"],[1059]],[1061,"Acne",["Breaking out"],[11123]],[1062,"Atypical nevus",["Atypical mole","Dysplastic Nevus"],[3764]],[1063,"Acrocyanosis",["Persistent blue color of hands or feet","Persistent blue colour of hands or feet"],[34033]],[1065,"Striae distensae",["Purplish striae","Stretch marks","Striae","Striae atrophicae","Striae cutis distensae"],[4334,100679]],[1067,"Neurofibroma",["Neurofibromata","Neurofibromatosis","multiple neurofibromas"],[8069,10614,100007]],[1069,"Episodic hyperhidrosis",["Hyperhidrosis, episodic","Sporadic excessive sweating"],[975]],[1070,"Mottled pigmentation",["Mottled skin coloring","Mottled skin colouring","Stippled pigmentation"],[1000]],[1071,"Angiokeratoma corporis diffusum",["Fabry syndrome"],[1014]],[1072,"Thickened skin",["Pachydermia","Thick skin","Diffusely thickened skin"],[11121]],[1073,"Cigarette-paper scars",["Cigarette paper scarring"],[1075]],[1074,"Atypical nevi in non-sun exposed areas",[],[3764]],[1075,"Atrophic scars",["Sunken or indented skin due to damage","Thin, atrophic scars"],[987,4334]],[1076,"Glabellar hemangioma",["Glabellar capillary hemangioma"],[1028]],[1080,"Biliary tract abnormality",["Biliary tract disease"],[4297]],[1081,"Cholelithiasis",["Gallstones"],[12437]],[1082,"Cholecystitis",["Gallbladder inflammation","Recurrent cholecystitis","Unusual cholecystitis"],[12438,32166]],[1083,"Ectopia lentis",["Abnormality of lens position","Lens dislocation"],[517]],[1084,"Corneal arcus",["Anterior embryotoxon","Arcus lipoidis","Arcus senilis","Corneal annulus","Gerontoxon","Arcus juvenilis"],[8011]],[1085,"Papilledema",["Papillitis"],[12795]],[1087,"Developmental glaucoma",["Childhood glaucoma","Infantile glaucoma","Paediatric glaucoma","Pediatric glaucoma"],[501,7700]],[1088,"Brushfield spots",["Iris brushfield spots","Speckled iris"],[8034]],[1089,"Iris atrophy",["Iris degeneration"],[525]],[1090,"Abnormally large globe",["Increased size of eyes","Large eyes","Megalophthalmos","Increased size of palpebral fissures","Large eyeballs","Large of palpebral fissures"],[100887]],[1092,"Absent lacrimal punctum",["Absent lacrimal gland puncta","Absent lacrimal openings","Absent lacrimal puncta","Aplasia of lacrimal puncta","Lacrimal puncta aplasia","Lacrimal punctum, absence","Agenesis of the lacrimal punctum"],[11479]],[1093,"Optic nerve dysplasia",[],[587]],[1094,"Iridocyclitis",[],[12122]],[1095,"Hypertensive retinopathy",[],[8046]],[1096,"Keratoconjunctivitis",[],[491,509]],[1097,"Keratoconjunctivitis sicca",["Dry eyes","Keratitis sicca","Xerophthalmia","Dry eye syndrome"],[1096]],[1098,"Abnormal fundus morphology",["Abnormality of the fundus"],[4329]],[1099,"Atrophic fundus lesion",["Fundus atrophy"],[1098]],[1100,"Heterochromia iridis",["Different colored eyes","Different coloured eyes","Heterochromia irides"],[200064]],[1101,"Iritis",["Inflammation of iris"],[525]],[1102,"Angioid streaks",["Angioid streaks of the fundus","Angioid streaks of the retina","Angioid streaks, retina","Knapp streaks","Laquer cracks of the retina"],[479]],[1103,"Abnormal macular morphology",["Abnormality of the macula","Macula abnormality","Macular abnormality"],[479]],[1104,"Macular hypoplasia",[],[8059]],[1105,"Retinal atrophy",[],[546]],[1106,"Periorbital hyperpigmentation",["Dark circles around the eyes","Dark circles under the eyes","Darkening around the eyes","Idiopathic cutaneous hyperchromia at the orbital region","Infraorbital pigmentation","Periorbital melanosis","Pigmentation around the eyes"],[606,1000]],[1107,"Ocular albinism",["Absent pigmentation in the eye","Albinism, Ocular"],[1098,7730]],[1112,"Leber optic atrophy",["Leber optic atrophy features","Leber optic degeneration"],[587]],[1114,"Xanthelasma",["Fatty deposits in skin around the eyes","Fatty deposits on eyelids","Xanthelasma palpebrarum","Xanthoma","Xanthelasma of eyelid","Xanthelasma of periocular region","Xanthoma of eyelid","Xanthoma of periocular region"],[991,10732]],[1115,"Posterior polar cataract",["Polar cataract, posterior"],[10696]],[1116,"Macular pseudocoloboma",["Coloboma of the macula","Macular coloboma"],[1103]],[1117,"Sudden loss of visual acuity",["Sudden decrease in vision","Sudden central visual loss"],[7663]],[1118,"Juvenile cataract",[],[518]],[1119,"Keratoglobus",[],[7700,100689,100692]],[1120,"Abnormality of corneal size",[],[481]],[1123,"Visual field defect",["Partial loss of field of vision","Visual field defects"],[505]],[1125,"Transient unilateral blurring of vision",["Hemianoptic blurring of vision","Transient unilateral blurred vision","Hemianopic blurring"],[622]],[1126,"Cryptophthalmos",[],[11226]],[1128,"Trichiasis",["Ingrown eyelashes","Introversion of eyelashes","Trichiasis of eyelid eyelashes"],[499]],[1129,"Large central visual field defect",["Large central loss of field of vision"],[1123]],[1131,"Corneal dystrophy",[],[481]],[1132,"Lens subluxation",["Partially dislocated lens"],[1083]],[1133,"Constriction of peripheral visual field",["Concentric narrowing of visual field","Constricted visual field","Constricted visual fields","Limited peripheral vision","Reduced peripheral vision","Visual field constriction"],[1123]],[1134,"Anterior polar cataract",["Polar cataract, anterior"],[10696]],[1135,"Chorioretinal dystrophy",[],[532,556]],[1136,"Retinal arteriolar tortuosity",["Tortuous retinal arterioles"],[630,12841]],[1137,"Alternating esotropia",["Alternating cross eyes"],[565]],[1138,"Optic neuropathy",["Damaged optic nerve"],[587]],[1139,"Chorioretinal scalloped atrophy",["Choroideremia"],[610]],[1140,"Limbal dermoid",["Benign eye tumor","Benign eye tumour","Epibulbar dermoid","Epibulbar dermoids"],[481,502,591]],[1141,"Severely reduced visual acuity",["Marked vision impairment","Severe reduction in visual acuity","Severe vision loss","Severe visual impairment","Severe visual loss","Severely impaired vision"],[7663]],[1142,"Lenticonus",[],[11526]],[1144,"Orbital cyst",["Cyst of eye socket","Orbital cysts"],[315]],[1147,"Retinal exudate",["Retinal exudates"],[30506]],[1149,"Lattice corneal dystrophy",["Biber haab dimmer dystrophy"],[1131]],[1151,"Impaired horizontal smooth pursuit",["Abnormal horizontal ocular pursuit","Impaired horizontal visual pursuit"],[7772]],[1152,"Saccadic smooth pursuit interruptions",["Saccadic pursuit movements","Saccadic slow pursuit","Saccadic smooth pursuit"],[617]],[1153,"Septate vagina",["Double vagina"],[142]],[1155,"Abnormality of the hand",["Abnormal hands","Hand anomalies","Hand deformities"],[2817]],[1156,"Brachydactyly",["Brachydactyly syndrome","Short fingers or toes"],[11927]],[1159,"Syndactyly",["Webbed fingers or toes"],[11297]],[1161,"Hand polydactyly",["Extra finger","Finger polydactyly","Polydactyly of the hand","Supernumerary finger"],[9997,10442]],[1162,"Postaxial hand polydactyly",["Extra little finger","Extra pinkie finger","Extra pinky finger","Polydactyly affecting the 5th finger","Postaxial polydactyly of fingers","Postaxial polydactyly of hand","Postaxial polydactyly of hands"],[1161,4207,100259]],[1166,"Arachnodactyly",["Long slender fingers","Long, slender fingers","Spider fingers"],[1238,100807]],[1167,"Abnormal finger morphology",["Abnormalities of the fingers","Abnormality of finger"],[1155,11297]],[1169,"Broad palm",["Broad hand","Broad hands","Wide palm"],[100871]],[1171,"Split hand",["Ectrodactyly of the hand","Hand ectrodactyly","Split-hand"],[5922,100257]],[1172,"Abnormal thumb morphology",["Abnormality of the thumb","Abnormality of the thumbs","Thumb deformity"],[1167]],[1176,"Large hands",["Disproportionately large hands","large hand"],[5922]],[1177,"Preaxial hand polydactyly",["Extra thumb","Polydactyly affecting the thumb","Preaxial polydactyly of hands","Supernumerary thumb","thumb polydactyly"],[1161,1172,100258]],[1178,"Ulnar claw",[],[5922]],[1181,"Adducted thumb",["Adducted thumbs","Inward turned thumb","Thumb-in-palm deformity","Thumb-in-palm pattern"],[1172]],[1182,"Tapered finger",["Distally tapering fingers","Tapered fingertips","Tapering fingers","Tapered fingers"],[100807]],[1187,"Hyperextensibility of the finger joints",["Finger joint hyperextensibility","Hyperextensible digits","Hyperextensible finger","Hyperextensible fingers"],[6094]],[1188,"Hand clenching",["Clenched hand","Clenched hands","Fisted hand","Fisting","Hands fisted","Hands tightly fisted","Thumb clasp"],[5922]],[1191,"Abnormal carpal morphology",["Abnormal wrist bones","Abnormal carpal bones","Abnormality of the carpal bones","Anomalous carpal bones","Carpal bone anomalies"],[5922,25798]],[1193,"Ulnar deviation of the hand or of fingers of the hand",[],[9484]],[1194,"Abnormalities of placenta or umbilical cord",[],[1197]],[1195,"Single umbilical artery",["2 vessel cord","2 vessel umbilical cord","Only one artery in umbilical cord instead of two","SUA","Two vessel cord","Two vessel umbilical cord","Two-vessel cord"],[10948,11403,11425]],[1196,"Short umbilical cord",[],[10881]],[1197,"Abnormality of prenatal development or birth",[],[118]],[1199,"Triphalangeal thumb",["Accessory phalanx of the thumb","Digitalized thumb","Finger-like thumb","Triphalangeal thumbs","Triphalangy of thumb"],[9602]],[1204,"Distal finger symphalangism",["Distal symphalangism of hands","Fused outermost bones of hand","Symphalangism affecting the distal phalanges of the hand","Synostosis of distal phalanges","Terminal symphalangism"],[9700,9832,100263]],[1211,"Abnormal fingertip morphology",["Abnormality of the fingertips"],[1167]],[1212,"Prominent fingertip pads",["Persistence of fingerpads","Persistent fetal fingertip pads","Persistent foetal fingertip pads","Prominent finger pads"],[1211,11298]],[1215,"Camptodactyly of 2nd-5th fingers",[],[100490]],[1216,"Delayed ossification of carpal bones",["Carpal delayed ossification","Delayed carpal bone age","Delayed carpal ossification","Delayed maturation of carpal bones","Delayed maturation of wrist bone"],[6257]],[1217,"Clubbing",["Clubbing of fingers and toes","Digital clubbing"],[11297]],[1218,"Autoamputation",[],[40064]],[1220,"Interphalangeal joint contracture of finger",["Interphalangeal joint flexion contractures"],[12785]],[1222,"Spatulate thumbs",["Spoon shaped thumbs"],[11304]],[1223,"Pointed proximal second through fifth metacarpals",[],[6119]],[1225,"Wrist swelling",[],[25798]],[1227,"Abnormality of the thenar eminence",["Thenar abnormality"],[1421]],[1230,"Broad metacarpals",["Wide long bones of hand","Wide metacarpals"],[5916]],[1231,"Abnormal fingernail morphology",["Abnormal fingernails","Abnormality of the fingernails"],[1597]],[1232,"Nail bed telangiectasia",["Nail bed telangiectases"],[1009,1597]],[1233,"2-3 finger cutaneous syndactyly",["Syndactyly 2nd-3rd fingers","Syndactyly, 2-3 finger","Webbed 2nd-3rd fingers"],[10554]],[1234,"Hitchhiker thumb",["Abducted thumb"],[9466,9603,9617]],[1238,"Slender finger",["Narrow fingers","Slender fingers","thin fingers"],[1167]],[1239,"Wrist flexion contracture",["Wrist contracture","Wrist flexion deformity"],[25798,100360]],[1241,"Capitate-hamate fusion",["Capitate-hamate fusions","Fused capitate and hamate","Fusion of capitate and hamate","Fusion of hamate and capitate"],[4259,4262,9702]],[1245,"Small thenar eminence",["Decreased thenar eminence","Hypoplastic thenar eminences","Thenar hypoplasia","Thenar muscle hypoplasia"],[1227]],[1248,"Short tubular bones of the hand",["Long bone shortening of the hand","Short long bones of the hand","Shortened long tubular bones of the hand","Shortened tubular bones of the hand"],[3026,5922]],[1249,"Intellectual disability",["Mental deficiency","Mental retardation","Mental retardation, nonspecific","Mental-retardation","Nonprogressive intellectual disability","Nonprogressive mental retardation","Dull intelligence","Low intelligence","Poor school performance"],[11446,12759]],[1250,"Seizure",["Epileptic seizure","Seizures","Epilepsy"],[12638]],[1251,"Ataxia",["Cerebellar ataxia"],[11443]],[1252,"Hypotonia",["Low muscle tone","Low or weak muscle tone","Muscle hypotonia","Muscular hypotonia","Central hypotonia","Peripheral hypotonia"],[3808]],[1254,"Lethargy",["Dullness","Inaction","Inactivity","Languor","Slowness","Torpor"],[745]],[1256,"Mild intellectual disability",["Intellectual disability, mild","Mental retardation, borderline-mild","Mild and nonprogressive mental retardation","Mild mental retardation","Mental retardation, mild"],[1249]],[1257,"Spasticity",["Involuntary muscle stiffness, contraction, or spasm","Muscle spasticity","Muscular spasticity"],[1276,2493]],[1258,"Spastic paraplegia",["Spastic paraplegia, lower limb"],[2061,10550]],[1259,"Coma",["Persistent vegetative state","Stupor","Unconsciousness","Trance"],[4372]],[1260,"Dysarthria",["Difficulty articulating speech","Dysarthric speech"],[2167]],[1262,"Excessive daytime somnolence",["Excessive daytime sleepiness","More than typical sleepiness during day"],[2360,4372]],[1263,"Global developmental delay",["Delayed cognitive development","Delayed development","Delayed developmental milestones","Delayed intellectual development","Delayed milestones","Delayed psychomotor development","Developmental delay","Developmental delay in early childhood","Developmental delay, global","Developmental retardation","GDD","Lack of psychomotor development","Motor and developmental delay","Motormental retardation","Psychomotor delay","Psychomotor development deficiency","Psychomotor development failure","Psychomotor developmental delay","Retarded development","Retarded mental development","Retarded psychomotor development","Cognitive delay","Mental and motor retardation"],[12758]],[1264,"Spastic diplegia",["Spastic diparesis","Spastic diplegic"],[34353]],[1265,"Hyporeflexia",["Decreased reflex response","Decreased reflexes"],[1315]],[1266,"Choreoathetosis",["Choreoathetoid movements"],[2072,2305]],[1268,"Mental deterioration",["Cognitive decline","Cognitive decline, progressive","Intellectual deterioration","Progressive cognitive decline"],[100543]],[1269,"Hemiparesis",["Weakness of one side of body"],[4374]],[1270,"Motor delay",["Delay in development of motor milestones","Delay in motor development","Delayed development of motor milestones","Delayed early motor milestones","Delayed motor development","Delayed motor milestones","Locomotor delay","Motor developmental delay","Motor developmental milestones not achieved","Motor retardation","Retarded motor development","Slow development of motor milestones","No development of motor milestones"],[12758]],[1271,"Polyneuropathy",["Peripheral nerve disease"],[9830]],[1272,"Cerebellar atrophy",["Atrophic cerebellum","Degeneration of cerebellum","Infratentorial atrophy"],[1317]],[1273,"Abnormal corpus callosum morphology",["Abnormal corpus callosum","Abnormality of the corpus callosum","Corpus callosum abnormality"],[2500]],[1274,"Agenesis of corpus callosum",["Absence of corpus callosum","Absent corpus callosum","Agenesis of the corpus callosum","Callosal agenesis","Corpus callosum agenesis","Dysplastic or absent corpus callosum"],[7370]],[1276,"Hypertonia",["Hypertonicity","Increased muscle tone","Spasticity and rigidity of muscles","Muscle hypertonia"],[3808]],[1278,"Orthostatic hypotension",["Decrease in blood pressure upon standing up","Postural hypotension"],[2615,12332]],[1279,"Syncope",["Fainting spell"],[7185,11025]],[1281,"Tetany",["Intermittent involuntary muscle spasm"],[11804]],[1283,"Bulbar palsy",["Bulbar muscle weakness","Bulbar palsies","Bulbar weakness"],[1324,12638]],[1284,"Areflexia",["Absent reflexes","Absent deep tendon reflexes","Absent tendon reflexes","Deep tendon reflexes absent","Loss of deep tendon reflexes","Lost deep tendon reflexes"],[1315]],[1285,"Spastic tetraparesis",["Spastic quadriparesis"],[2273,34353]],[1287,"Meningitis",["Unusual infectious meningitis","Unusual meningitis"],[11450]],[1288,"Gait disturbance",["Abnormal gait","Abnormal walk","Difficulty in walking","Gait abnormalities","Gait difficulties","Gait disturbances","Impaired gait","Walking disability"],[100022]],[1289,"Confusion",["Disorientation","Easily confused","Mental disorientation"],[100543]],[1290,"Generalized hypotonia",["Generalised decreased muscle tone","Generalised hypotonia","Generalised muscular hypotonia","Generalized decreased muscle tone","Generalized muscular hypotonia","Hypotonia, generalised","Hypotonia, generalized"],[1252]],[1291,"Abnormal cranial nerve morphology",["Abnormality of cranial nerve","Abnormality of the cranial nerves","Cranial nerve disease","Cranial nerve involvement","Cranial nerve abnormality"],[759]],[1293,"Cranial nerve compression",[],[1291]],[1297,"Stroke",["Cerebral vascular events","Cerebrovascular accident","Cerebrovascular accidents"],[100659]],[1298,"Encephalopathy",[],[12638]],[1300,"Parkinsonism",["Parkinsonian disease"],[2071]],[1301,"Chronic sensorineural polyneuropathy",[],[9830]],[1302,"Pachygyria",["Cerebral pachygyria","Fewer and broader ridges in brain","Macrogyria"],[1339]],[1304,"Torsion dystonia",["Dystonia musculorum deformans"],[1332]],[1305,"Dandy-Walker malformation",["Dandy-Walker cyst","Dandy-walker anomaly"],[1320,2198,2350,5445]],[1308,"Tongue fasciculations",["Lingual fasciculations","Lingual fibrillations","Lingual twitching","Tongue fasciculation","Tongue fasciculations/fibrillations","Tongue twitching","Twitching of the tongue"],[2380,10546,30810]],[1310,"Dysmetria",["Lack of coordination of movement","Abnormal finger chase test","Abnormal finger-nose-finger test"],[1251]],[1311,"Abnormal nervous system electrophysiology",["Neurophysiologic abnormalities","Neurophysiologic abnormality"],[12638]],[1312,"Giant somatosensory evoked potentials",["Giant SEPS"],[7377]],[1315,"Diminished deep tendon reflex",["Absent or decreased deep tendon reflexes","Decreased deep tendon reflexes","Decreased tendon reflexes","Decreased to absent deep tendon reflexes","Decreased/absent deep tendon reflexes","Depressed tendon reflexes","Diminished deep tendon reflexes","Diminished or absent deep tendon reflexes","Diminished or absent tendon reflexes","Hypoactive to absent deep tendon reflexes","Impaired tendon reflexes","Reduced tendon reflexes","Reduced/absent deep tendon reflexes","Weak or absent deep tendon reflexes"],[31826]],[1317,"Abnormal cerebellum morphology",["Abnormality of the cerebellum","Cerebellar abnormalities","Cerebellar abnormality","Cerebellar anomaly","Cerebellar signs"],[11283]],[1319,"Neonatal hypotonia",["Hypotonia, in neonatal onset","Hypotonia, neonatal","Low muscle tone, in neonatal onset","Congenital hypotonia"],[1252]],[1320,"Cerebellar vermis hypoplasia",["Cerebellar vermal hypoplasia","Hypoplasia of the cerebellar vermis","Hypoplastic cerebellar vermis"],[1321,6817]],[1321,"Cerebellar hypoplasia",["Congenital cerebellar hypoplasia","Hypoplasia of cerebellum","Hypoplastic cerebellum","Small cerebellum","Underdeveloped cerebellum"],[7360]],[1324,"Muscle weakness",["Muscular weakness"],[11804]],[1325,"Hypoglycemic coma",["Coma caused by low blood sugar","Coma, hypoglycemic","Hypoglycaemic coma","Loss of consciousness due to hypoglycemia"],[1259]],[1326,"EEG with irregular generalized spike and wave complexes",["EEG with irregular generalised spike and wave complexes"],[10850]],[1327,"Photosensitive myoclonic seizure",["Photically induced myoclonic seizure","Photomyoclonic seizure","Photomyoclonic seizures"],[2123,20216]],[1328,"Specific learning disability",[],[12759]],[1331,"Absent septum pellucidum",["Absence of septum pellucidum","Absence of the septum pellucidum","Agenesis of the septum pellucidum","Missing septum pellucidum"],[7375]],[1332,"Dystonia",["Dystonic movements","Dystonic disease"],[100022]],[1334,"Communicating hydrocephalus",[],[238]],[1335,"Bimanual synkinesia",["Hand mirror movements","Mirror hand movements","Mirror movements"],[34980]],[1336,"Myoclonus",["Jerking","Myoclonic jerks","Involuntary jerking movements"],[4305]],[1337,"Tremor",["Tremors"],[4305]],[1338,"Partial agenesis of the corpus callosum",["Corpus callosum agenesis, partial","Partial agenesis of corpus callosum","Partial corpus callosum agenesis","Partial or complete agenesis of corpus callosum","Partial to complete agenesis of corpus callosum","Partial-total agenesis of corpus callosum","Partial or complete agenesis of the corpus callosum"],[1274]],[1339,"Lissencephaly",["Fewer or absent grooves in brain"],[2536]],[1340,"Enhancement of the C-reflex",[],[7377]],[1341,"Olfactory lobe agenesis",["Olfactory lobe absence"],[25057]],[1342,"Cerebral hemorrhage",["Bleeding in brain","Cerebral haemorrhage","Intracerebral haemorrhage","Intracerebral hemorrhage","Hemorrhagic stroke"],[2170]],[1343,"Kernicterus",[],[12443]],[1344,"Absent speech",["Absent speech development","Lack of language development","Lack of speech","No speech development","No speech or language development","Nonverbal"],[750]],[1345,"Psychotic mentation",[],[5200430]],[1347,"Hyperreflexia",["Increased deep tendon reflexes","Increased reflexes"],[31826]],[1348,"Brisk reflexes",["Brisk deep tendon reflexes"],[1347]],[1349,"Facial diplegia",["Bilateral facial weakness","Facial paresis, bilateral"],[10628]],[1350,"Slurred speech",[],[11443]],[1351,"Jerk-locked premyoclonus spikes",[],[30178]],[1355,"Megalencephaly",["Enlarged brain","Macrencephaly"],[2060]],[1357,"Plagiocephaly",["Asymmetry of the posterior cranium","Asymmetry of the posterior head","Asymmetry of the posterior skull","Flat head","Rhomboid shaped head","Flat head syndrome","Flattening of cranial vault","Flattening of cranium","Flattening of skull","Rhomboid shaped cranium","Rhomboid shaped skull","Deformational plagiocephaly","Flattening of head","Positional plagiocephaly"],[2683]],[1360,"Holoprosencephaly",["Single brain ventricle"],[12443]],[1361,"Nystagmus-induced head nodding",[],[639]],[1362,"Calvarial skull defect",["Cranial defect","Skull defect","Calvarial defect"],[2683]],[1363,"Craniosynostosis",["Deformity of the skull","Cranial suture synostosis","Craniosyostosis","Early fusion of cranial sutures","Premature closure of cranial sutures","Premature suture closure","Craniostenosis"],[2683,11329]],[1367,"Abnormal joint morphology",["Abnormal shape of joints","Abnormality of the joints","Anomaly of the joints","Joint disease"],[11842]],[1369,"Arthritis",["Joint inflammation"],[1367]],[1370,"Rheumatoid arthritis",["RA"],[1369]],[1371,"Flexion contracture",["Flexed joint that cannot be straightened","Flexion contractures","Flexion contractures of joints"],[34392]],[1373,"Joint dislocation",["Joint dislocations"],[1367]],[1374,"Congenital hip dislocation",["Congenital dislocation of the hip","Congenital dislocation of the hips","Congenital hip anomaly","Congenital hip dislocations","Dislocated hip since birth"],[1385,2827]],[1376,"Limitation of joint mobility",["Decreased joint mobility","Decreased mobility of joints","Limited joint mobility","Limited joint motion"],[11729]],[1377,"Limited elbow extension",["Decreased elbow extension","Elbow limited extension","Limitation of elbow extension","Limited extension at elbows","Limited forearm extension","Reduced elbow extension","Restricted elbow extension"],[2996]],[1382,"Joint hypermobility",["Double-Jointed","Extensible joints","Flexible joints","Hyperextensible joints","Increased joint mobility","Increased mobility of joints","Joint hyperextensibility","Joint hyperflexibility","Joint hyperlaxity","Joint laxity","Joints move beyond expected range of motion","Lax joints","Loose-jointedness","Joint instability","Joint ligamentous laxity","Ligamentous laxity"],[11729]],[1384,"Abnormal hip joint morphology",["Abnormality of the hip joint","Abnormality of the hip joints"],[3272,100491]],[1385,"Hip dysplasia",["Abnormal formation of the hip","Congenital hip dysplasia","DDH","Developmental dysplasia of the hip"],[3272]],[1386,"Joint swelling",[],[969,1367]],[1387,"Joint stiffness",["Stiff joint","Stiff joints"],[1376]],[1392,"Abnormality of the liver",["Abnormal liver","Liver abnormality","Liver disease"],[2012]],[1394,"Cirrhosis",["Hepatic cirrhosis","Scar tissue replaces healthy tissue in the liver","Liver cirrhosis"],[410042]],[1395,"Hepatic fibrosis",["Liver fibrosis"],[410042]],[1396,"Cholestasis",["Slowed or blocked flow of bile from liver"],[4297]],[1397,"Hepatic steatosis",["Fatty infiltration of liver","Fatty liver","Liver steatosis","Steatosis"],[6561]],[1399,"Hepatic failure",["Hepatic insufficiency","Liver failure"],[1410]],[1401,"Intrahepatic biliary dysgenesis",[],[11040]],[1402,"Hepatocellular carcinoma",["Increased hepatocellular carcinoma risk","Increased incidence of hepatocellular carcinoma"],[2896]],[1403,"Macrovesicular hepatic steatosis",["Macrovesicular steatosis"],[1397]],[1404,"Hepatocellular necrosis",["Death of liver cells","Hepatocellular loss"],[2605]],[1405,"Periportal fibrosis",[],[1395]],[1406,"Intrahepatic cholestasis",["Impaired release of bile from liver"],[1396,31865]],[1407,"Hepatic cysts",["Liver cysts"],[6706]],[1408,"Bile duct proliferation",["Proliferation of bile canaliculi"],[12440]],[1409,"Portal hypertension",[],[6707,32263]],[1410,"Decreased liver function",["Liver dysfunction","Hepatopathy","Liver dysfunction, mild"],[25155]],[1412,"Enteroviral hepatitis",[],[6562]],[1413,"Micronodular cirrhosis",[],[1394]],[1414,"Microvesicular hepatic steatosis",["Microvesicular steatosis"],[1397]],[1417,"X-linked inheritance",["X-linked","monoallelic_X","X-linked form"],[34345]],[1419,"X-linked recessive inheritance",["X-linked recessive","monoallelic_X_hemizygous"],[1417]],[1421,"Abnormality of the musculature of the hand",["Abnormal hand muscles"],[1155,1446]],[1423,"X-linked dominant inheritance",["X-linked dominant","monoallelic_X_heterozygous"],[1417]],[1426,"Non-Mendelian inheritance",["Familial predisposition"],[5]],[1427,"Mitochondrial inheritance",["Mitochondrial","mitochondrial"],[34345]],[1430,"Abnormal calf musculature morphology",["Abnormal calf muscles","Abnormality of calf musculature"],[1437]],[1433,"Hepatosplenomegaly",["Enlarged liver and spleen"],[1744,2240]],[1435,"Abnormality of the shoulder girdle musculature",[],[1446]],[1436,"Abnormality of the foot musculature",["Abnormal foot muscles"],[1437]],[1437,"Abnormality of the musculature of the lower limbs",[],[2814,9127]],[1438,"Abnormal abdomen morphology",["Abnormality of abdomen morphology","Abnormality of abdomen structure","Abnormality of the abdomen","Abdomen abnormality"],[25031]],[1440,"Metatarsal synostosis",["Fusion of metatarsals","Fusion of the long bones of the feet","Synostosis involving metatarsal bones"],[1832,9140,100265]],[1441,"Abnormality thigh musculature morphology",["Abnormal thigh muscles","Abnormality of the musculature of the thigh"],[1437]],[1442,"Typified by somatic mosaicism",["Autosomal dominant somatic cell mutation","Somatic mosaicism","Somatic mutation"],[34335]],[1443,"Abnormality of the gluteal musculature",["Abnormality of glutes"],[1469]],[1445,"Abnormality of the hip-girdle musculature",[],[1469]],[1446,"Abnormality of the musculature of the upper limbs",["Abnormal upper limb muscles"],[2817,9127]],[1449,"Duplication of metatarsal bones",["Duplication of long bones of foot"],[1832,9136]],[1450,"Y-linked inheritance",["Y-linked","monoallelic_Y_hemizygous"],[34345]],[1454,"Abnormality of the upper arm",[],[2817]],[1457,"Abnormality of the musculature of the upper arm",[],[1446,1454]],[1459,"1-3 toe syndactyly",["Webbed 1st-3rd toes"],[1770]],[1460,"Aplasia/Hypoplasia involving the skeletal musculature",["Absent/small skeletal muscles","Absent/underdeveloped skeletal muscles"],[30236]],[1464,"Aplasia/Hypoplasia involving the shoulder musculature",["Absent/small shoulder muscles","Absent/underdeveloped shoulder muscles"],[1435,1467]],[1465,"Amyotrophy involving the shoulder musculature",["Shoulder muscle degeneration","Wasting of shoulder muscles"],[1435]],[1466,"Contiguous gene syndrome",[],[34335]],[1467,"Aplasia/Hypoplasia involving the musculature of the upper limbs",["Absent/small upper limb muscles","Absent/underdeveloped upper limb muscles"],[1446,9128]],[1468,"Aplasia/Hypoplasia involving the musculature of the upper arm",["Absent/small upper arm muscles","Absent/underdeveloped upper arm muscles"],[1457,1467]],[1469,"Abnormal morphology of the pelvis musculature",["Abnormality of the musculature of the pelvis"],[9127]],[1470,"Sex-limited expression",[],[34335]],[1471,"Aplasia/Hypoplasia of the musculature of the pelvis",["Absent/small pelvis muscles","Absent/underdeveloped pelvis muscles"],[1469]],[1473,"Metatarsal osteolysis",["Osteolysis involving metatarsal bones"],[1832,9134]],[1474,"Sclerotic scapulae",[],[782,11001]],[1475,"Male-limited expression",[],[1470]],[1476,"Delayed closure of the anterior fontanelle",["Delayed closure of the soft spot on the skull","Late closure of soft spot on the skull","Delayed closure anterior fontanel","Delayed closure of anterior fontanelle","Delayed closure of the bregma sutures","Late closure of anterior fontanelle","Late closure of large anterior fontanel","Late closure of the bregma sutures","Later than typical closing of soft spot of skull","Persistent anterior fontanelle"],[236,270]],[1477,"Compensatory chin elevation",["Compensatory head tilt/chin elevation"],[31705]],[1480,"Freckling",[],[1000]],[1482,"Subcutaneous nodule",["Nodule below the skin","Firm lump under the skin","Growth of abnormal tissue under the skin","Multiple, subcutaneous nodules","Subcutaneous nodules"],[200036]],[1483,"Eye poking",["Blindism","Eye pressing","Ocular auto-stimulation","Oculodigital phenomenon"],[100716,5200017,5200065]],[1488,"Bilateral ptosis",["Drooping of both upper eyelids"],[508]],[1489,"Posterior vitreous detachment",["Vitreous detachment"],[4327]],[1491,"Congenital fibrosis of extraocular muscles",["CFEOM","Congenital fibrosis of the extraocular muscles","Congenital ophthalmoplegia"],[8049]],[1492,"Axenfeld anomaly",[],[7700]],[1493,"Falciform retinal fold",["Congenital retinal fold"],[8052]],[1495,"Carpal osteolysis",["Carpal bone osteolysis"],[1191,45039]],[1498,"Carpal bone hypoplasia",["Small wrist bones","Hypoplasia of carpal bones","Hypoplastic carpal bones","Small carpal bones","Small carpals"],[6502]],[1500,"Broad finger",["Broad fingers","Wide fingers"],[1167]],[1501,"6 metacarpals",["6 long bones of hand"],[5917]],[1504,"Metacarpal osteolysis",["Metacarpals osteolysis"],[5916,45039]],[1507,"Growth abnormality",["Abnormal growth","Growth issue"],[118]],[1508,"Failure to thrive",["Undergrowth","FTT","Faltering weight","Postnatal failure to thrive","Weight faltering","Poor weight gain"],[4325]],[1510,"Growth delay",["Delayed growth","Growth deficiency","Growth failure","Growth retardation","Poor growth","Retarded growth","Very poor growth"],[1507]],[1511,"Intrauterine growth retardation",["FGR","Fetal growth restriction","IUGR","In utero growth retardation","Intrauterine growth failure","Intrauterine growth restriction","Intrauterine growth retardation, IUGR","Intrauterine retardation","Prenatal growth deficiency","Prenatal growth failure","Prenatal growth retardation","Prenatal onset growth retardation","Prenatal-onset growth retardation","Small for gestational age infant"],[1510]],[1513,"Obesity",["Having too much body fat"],[4324]],[1518,"Small for gestational age",["Birth weight less than 10th percentile","Low birth weight"],[4325]],[1519,"Disproportionate tall stature",["Dolichostenomelia","Marfanoid body habitus","Marfanoid habitus","Reduced upper-lower segment ratio"],[98]],[1520,"Large for gestational age",["Birth weight > 90th percentile","Birthweight > 90th percentile","Fetal macrosomia","Foetal macrosomia","Macrosomia","Macrosomia, neonatal"],[4324]],[1522,"Death in infancy",["Infantile death","Lethal in infancy","Death in early childhood"],[11420]],[1525,"Severe failure to thrive",["Marked failure to thrive","Severe faltering weight","Severe postnatal failure to thrive","Severe weight faltering"],[1508]],[1528,"Hemihypertrophy",["Asymmetric limb hypertrophy","Asymmetric overgrowth"],[40064,100555]],[1530,"Mild postnatal growth retardation",["Postnatal onset of mild growth retardation","Mild growth deficiency"],[8897]],[1531,"Failure to thrive in infancy",["Failure to thrive in first year of life","Faltering weight in infancy","Weight faltering in infancy"],[1508]],[1533,"Slender build",["Asthenic habitus","Thin body habitus","Thin build"],[98,4325]],[1537,"Umbilical hernia",["Umbilical hernias"],[1551,4299]],[1538,"Protuberant abdomen",["Abdominal protuberance","Belly sticks out","Extended belly"],[3270]],[1539,"Omphalocele",["Exomphalos","Omphalocoele"],[4299]],[1540,"Diastasis recti",["Gap between large left and right abdominal muscles"],[10991]],[1541,"Ascites",["Accumulation of fluid in the abdomen","Peritoneal effusion"],[1438]],[1543,"Gastroschisis",[],[10866]],[1544,"Prominent umbilicus",["Prominent belly button","Prominent navel"],[1551]],[1545,"Anteriorly placed anus",["Anteriorly displaced anus","Anus anteposition"],[4397]],[1547,"Abnormal rib cage morphology",["Abnormality of the rib cage"],[765]],[1548,"Overgrowth",["General overgrowth","Generalised overgrowth","Generalized overgrowth"],[98]],[1549,"Abnormal ileum morphology",["Abnormality of the ileum"],[2244]],[1551,"Abnormal umbilicus morphology",["Abnormal belly button","Abnormal navel","Abnormal umbilicus"],[4298]],[1552,"Barrel-shaped chest",["Barrel chest"],[100625]],[1555,"Asymmetry of the thorax",["Asymmetric chest"],[1547]],[1557,"Prenatal movement abnormality",["Abnormal intrauterine movements"],[34059]],[1558,"Decreased fetal movement",["Decreased fetal activity","Decreased fetal movements","Decreased foetal activity","Decreased foetal movement","Decreased foetal movements","Decreased movement in utero","Dminished fetal movement","Dminished foetal movement","Fetal hypokinesia","Foetal hypokinesia","Less than 10 fetal movements in 12 hours","Less than 10 foetal movements in 12 hours","Reduced fetal movement","Reduced fetal movements","Reduced foetal movement","Reduced foetal movements"],[1557]],[1560,"Abnormality of the amniotic fluid",["Abnormal amniotic fluid"],[1197]],[1561,"Polyhydramnios",["High levels of amniotic fluid","Hydramnios","Increased amniotic fluid index"],[1560]],[1562,"Oligohydramnios",["Low levels of amniotic fluid","Maternal oligohydramnios","Decreased amniotic fluid index"],[1560]],[1563,"Fetal polyuria",["Foetal polyuria"],[1560]],[1566,"Widely-spaced maxillary central incisors",["Central incisor gap","Diastasis of the central incisors","Gap between upper front teeth","Separated superior central incisors","Wide gap between upper central incisors","Wide upper central incisors","Widely spaced upper incisors","Diastema between maxillary central incisors","Diastema between upper front teeth","Diastema between upper incisors"],[6304]],[1571,"Multiple impacted teeth",["Multiple buried teeth","Multiple retained teeth","Impacted teeth"],[11079]],[1572,"Macrodontia",["Hyperplasia of tooth","Hypertrophy of tooth","Increased size of tooth","Increased width of tooth","Large tooth","Megalodontia","Tooth mass excess"],[6482]],[1574,"Abnormality of the integument",[],[118]],[1579,"Primary hypercortisolism",["ACTH-independent hypercortisolemia"],[3118]],[1580,"Pigmented micronodular adrenocortical disease",[],[849]],[1581,"Recurrent skin infections",["Recurrent cutaneous infections","Skin infections, recurrent"],[32162]],[1582,"Redundant skin",["Loose redundant skin","Redundant skin folds","Sagging, redundant skin"],[973]],[1583,"Rotary nystagmus",["Rotatory Nystagmus"],[639]],[1586,"Vesicovaginal fistula",[],[4320,4321]],[1591,"Bell-shaped thorax",["Bell-shaped chest","Constricted, bell-shaped thorax","Narrow, bell-shaped thorax"],[1547]],[1592,"Selective tooth agenesis",["Agenesis of a tooth","Failure of development of a tooth","Absence of a tooth","Missing a tooth"],[9804]],[1593,"Maxillary lateral incisor microdontia",["Decreased size of maxillary lateral incisor","Decreased size of upper lateral incisor","Hypotrophic maxillary lateral incisor","Hypotrophic upper lateral incisor","Small maxillary lateral incisor","Small upper lateral incisor","Decreased width of upper lateral incisor"],[691,11063]],[1595,"Abnormal hair morphology",["Abnormality of the hair","Hair abnormality","Abnormality of the hair shaft"],[11138]],[1596,"Alopecia",["Hair loss"],[11362]],[1597,"Abnormal nail morphology",["Abnormality of the nail","Nail disease"],[11138]],[1598,"Concave nail",["Koilonychia","Spoon-shaped nails"],[2164]],[1600,"Abnormality of the larynx",["Laryngeal abnormalities","Laryngeal anomalies"],[2087]],[1601,"Laryngomalacia",["Softening of voice box tissue"],[25423]],[1602,"Laryngeal stenosis",[],[25423]],[1604,"Vocal cord paresis",["Hoarse voice due to vocal cord paresis","Vocal cord paresis in severe cases","Weakness of the vocal cords"],[1605]],[1605,"Vocal cord paralysis",["Inability to move vocal cords","Laryngeal paralysis"],[3470,31801]],[1607,"Subglottic stenosis",[],[25423]],[1608,"Abnormality of the voice",["Voice abnormality"],[118]],[1609,"Hoarse voice",["Hoarseness","Husky voice"],[1608]],[1611,"Hypernasal speech",["Hypernasal voice","Nasal speech","Nasal voice"],[1608]],[1612,"Weak cry",[],[25429]],[1615,"Hoarse cry",[],[1609]],[1618,"Dysphonia",["Inability to produce voice sounds","Voice change"],[1608]],[1620,"Abnormally high-pitched voice",["High pitched voice","High-pitched voice"],[5200005]],[1621,"Weak voice",["Quiet voice","Soft voice","Hypophonia"],[1608]],[1622,"Premature birth",["Premature delivery","Premature delivery of affected infants","Preterm birth","Preterm delivery","Shortened gestation time"],[1197]],[1623,"Breech presentation",["Breech presentation at birth","Feet or buttocks of fetus positioned near opening of uterus","Feet or buttocks of foetus positioned near opening of uterus"],[1787]],[1626,"Abnormality of the cardiovascular system",["Cardiovascular abnormality","Cardiovascular disease"],[118]],[1627,"Abnormal heart morphology",["Abnormality of cardiac morphology","Abnormality of the heart","Abnormally shaped heart","Cardiac abnormality","Cardiac anomalies","Cardiac anomaly","Congenital heart defect","Congenital heart defects","Heart defect"],[30680]],[1629,"Ventricular septal defect",["Hole in heart wall separating two lower heart chambers","VSD","Ventricular septal defects","Ventriculoseptal defect"],[10438]],[1631,"Atrial septal defect",["ASD","An opening in the wall separating the top two chambers of the heart","Atria septal defect","Atrial septum defect","Atrioseptal defect","Defect in the atrial septum","Hole in heart wall separating two upper heart chambers"],[5120,11994]],[1633,"Abnormal mitral valve morphology",["Abnormality of the mitral valve"],[6705]],[1634,"Mitral valve prolapse",[],[1633]],[1635,"Congestive heart failure",["CHF","Cardiac failure","Cardiac failures","Cardiac insufficiency","Chronic heart failure","Heart failure"],[11025]],[1636,"Tetralogy of Fallot",["Tetrology of fallot"],[1710]],[1637,"Abnormal myocardium morphology",["Abnormality of the myocardium"],[1627]],[1638,"Cardiomyopathy",["Disease of the heart muscle"],[1637]],[1639,"Hypertrophic cardiomyopathy",["Cardiomyopathy, hypertrophic","Enlarged and thickened heart muscle","HCM"],[1638]],[1640,"Cardiomegaly",["Enlarged heart","Increased heart size"],[1627]],[1641,"Abnormal pulmonary valve morphology",["Abnormality of the pulmonary valve","Anomaly of the pulmonary valve"],[1654]],[1642,"Pulmonic stenosis",["Narrowing of pulmonic valve","Pulmonary stenosis","Pulmonary valve stenosis","Pulmonic valve stenosis"],[31654]],[1643,"Patent ductus arteriosus",["Ductus arteriosus","PDA","Patent ductus Botalli","Persistent arterial duct","Persistent ductus arteriosus"],[11603]],[1644,"Dilated cardiomyopathy",["Cardiomyopathy, dilated","Congestive cardiomyopathy","DCM","Stretched and thinned heart muscle"],[1638]],[1645,"Sudden cardiac death",["Premature sudden cardiac death"],[1695,1699]],[1646,"Abnormal aortic valve morphology",["Abnormality of the aortic valve"],[1654]],[1647,"Bicuspid aortic valve",["Aortic valve has two leaflets rather than three"],[31567]],[1648,"Cor pulmonale",[],[1707]],[1649,"Tachycardia",["Fast heart rate","Heart racing","Racing heart","Elevated heart rate","Increased heart rate","Rapid heart beat"],[11675]],[1650,"Aortic valve stenosis",["Aortic stenosis","Narrowing of aortic valve","Valvular aortic stenosis"],[31652]],[1651,"Dextrocardia",["Heart tip and four chambers point towards right side of body","Thoracic situs inversus"],[4307]],[1653,"Mitral regurgitation",["Mitral incompetence","Mitral insufficiency","Mitral valve insufficiency","Mitral valve regurgitation","Mitral regurgitation, mild"],[31481,34376]],[1654,"Abnormal heart valve morphology",["Abnormality of the heart valves","Valvular abnormality","Valvular heart disease"],[1627]],[1655,"Patent foramen ovale",["PFO","Persistent foramen ovale"],[11994]],[1657,"Prolonged QT interval",["Long QT syndrome","Prolong qt interval on ekg","Long Q-T syndrome"],[31547]],[1658,"Myocardial infarction",["Heart attack","MI"],[33678]],[1659,"Aortic regurgitation",["Aortic insufficiency","Aortic valve regurgitation"],[31652]],[1660,"Truncus arteriosus",["Common arterial trunk","Persistent truncus arteriosus"],[11603]],[1662,"Bradycardia",["Brachycardia","Slow heartbeats"],[11675]],[1663,"Ventricular fibrillation",[],[4308]],[1664,"Torsade de pointes",["Torsades de pointes"],[4308]],[1667,"Right ventricular hypertrophy",["Heart right ventricle hypertrophy"],[1707,1714]],[1669,"Transposition of the great arteries",["TGA","TGV","Transposition of great vessels"],[11563,11603]],[1670,"Asymmetric septal hypertrophy",[],[1639]],[1671,"Abnormal cardiac septum morphology",["Abnormality of the cardiac septa","Heart septal defect","Septal defects"],[1627]],[1674,"Complete atrioventricular canal defect",["Common atrioventricular canal","Complete atrioventricular canal","Complete atrioventricular septal defect","Complete common AV canal"],[6695]],[1677,"Coronary artery atherosclerosis",["Coronary atherosclerosis","Coronary disease","Plaque build-up in arteries supplying blood to heart"],[2621,6704,100545]],[1678,"Atrioventricular block",["Interruption of electrical communication between upper and lower chambers of heart","Atrioventricular nodal disease"],[5150,12722]],[1679,"Abnormal aortic morphology",["Abnormal aorta morphology","Abnormality of the aorta"],[11004,30962]],[1680,"Coarctation of aorta",["Aortic coarctation","Coarctation of the aorta","Narrowing of aorta","Narrowing of the aorta"],[1679]],[1681,"Angina pectoris",[],[11025]],[1682,"Subvalvular aortic stenosis",["Narrowing of blood vessel below aortic heart valve","Subaortic stenosis"],[11103]],[1683,"Ectopia cordis",[],[4307]],[1684,"Secundum atrial septal defect",["Atrial septal defect, ostium secundum type","Ostium secundum atrial septal defect","Patent ostium secundum"],[1631]],[1685,"Myocardial fibrosis",[],[1637]],[1686,"Loss of voice",["Aphonia"],[1608]],[1688,"Sinus bradycardia",[],[1662,11702]],[1691,"Muscular subvalvular aortic stenosis",["Muscular subaortic stenosis"],[1682]],[1692,"Atrial arrhythmia",["Primary atrial arrhythmia"],[5115]],[1693,"Cardiac shunt",[],[11028]],[1694,"Right-to-left shunt",[],[1693]],[1695,"Cardiac arrest",["Heart stops beating"],[11675]],[1696,"Situs inversus totalis",["All organs on wrong side of body","situs oppositus","situs transversus","Situs inversus"],[1651,11534]],[1697,"Abnormal pericardium morphology",["Abnormality of the pericardium"],[1627]],[1698,"Pericardial effusion",["Fluid around heart","Pericardial effusions"],[1697]],[1699,"Sudden death",[],[25142]],[1700,"Myocardial necrosis",[],[1637]],[1701,"Pericarditis",["Swelling or irritation of membrane around heart"],[1697,45073]],[1702,"Abnormal tricuspid valve morphology",["Abnormality of the tricuspid valve"],[6705]],[1704,"Tricuspid valve prolapse",[],[1702]],[1705,"Right ventricular outlet tract obstruction",["Right ventricular outlet obstruction"],[33118]],[1706,"Endocardial fibroelastosis",[],[4306]],[1707,"Abnormal right ventricle morphology",["Abnormality of the right ventricle","Right ventricular abnormality"],[1713]],[1708,"Right ventricular failure",["Impaired right ventricular function","Right ventricular impairment","Right-sided heart failure"],[33118]],[1709,"Third degree atrioventricular block",["Complete heart block","Third-degree heart block"],[1678]],[1710,"Conotruncal defect",["Conotruncal heart defects"],[11563,11603]],[1711,"Abnormal left ventricle morphology",["Abnormal heart left ventricle morphology","Abnormality of the left ventricle","Left ventricular abnormality"],[1713]],[1712,"Left ventricular hypertrophy",["Heart left ventricle hypertrophy","Left ventricular wall hypertrophy"],[1711,1714]],[1713,"Abnormal cardiac ventricle morphology",["Abnormality of cardiac ventricle"],[1627]],[1714,"Ventricular hypertrophy",[],[1713]],[1716,"Wolff-Parkinson-White syndrome",[],[4309]],[1717,"Coronary artery calcification",[],[3207,6704]],[1718,"Mitral stenosis",["Mitral valve stenosis"],[31481]],[1719,"Double outlet right ventricle",["DORV","Double-outlet right ventricle"],[1710,11723]],[1722,"High-output congestive heart failure",[],[1635]],[1723,"Restrictive cardiomyopathy",[],[1638]],[1727,"Thromboembolic stroke",[],[1907]],[1730,"Progressive hearing impairment",["Progressive hearing loss"],[365]],[1732,"Abnormality of the pancreas",["Pancreatic disease"],[2012]],[1733,"Pancreatitis",["Pancreatic inflammation"],[12091,12649]],[1734,"Annular pancreas",[],[12090]],[1735,"Acute pancreatitis",["Acute pancreatic inflammation","Pancreatitis, acute"],[1733]],[1737,"Pancreatic cysts",["Multiple pancreatic cysts","Pancreatic cyst"],[12090]],[1738,"Exocrine pancreatic insufficiency",["Inability to properly digest food due to lack of pancreatic digestive enzymes","Pancreatic insufficiency"],[12092]],[1739,"Abnormal nasopharynx morphology",["Abnormality of the nasopharynx"],[366,33151]],[1741,"Phimosis",[],[100587]],[1742,"Nasal congestion",["Blockage of nose","Nasal blockage","Nasal obstruction","Obstruction of nose","Stuffy nose","Congestion of nose"],[366]],[1743,"Abnormality of the spleen",[],[2012,100763]],[1744,"Splenomegaly",["Increased spleen size","Large spleen"],[3271,25408]],[1746,"Asplenia",["Absent spleen"],[10451]],[1747,"Accessory spleen",[],[9799]],[1748,"Polysplenia",["Accessory spleens","Multiple accessory spleens","Multiple small spleens"],[9799]],[1750,"Single ventricle",["Common ventricle"],[1713]],[1751,"Abnormal vestibular function",["Impaired vestibular function","Interictal vestibular dysfunction","Vestibular function defect"],[11389]],[1756,"Vestibular hyporeflexia",["Vestibular deficiency","Vestibular dysfunction","Vestibular failure","Vestibular hypofunction","Vestibular loss","Vestibulopathy"],[1751]],[1757,"High-frequency sensorineural hearing impairment",["High frequency sensorineural hearing impairment","High-tone sensorineural deafness","High-tone sensorineural hearing impairment"],[407]],[1760,"Abnormal foot morphology",["Abnormal feet structure","Abnormality of the feet","Abnormality of the foot","Foot deformities","Foot deformity"],[2814]],[1761,"Pes cavus",["Cavus foot","High-arched foot"],[1760]],[1762,"Talipes equinovarus",["Club feet","Club foot","Clubbing of feet","Clubfeet","Clubfoot","Equinovarus","Foot, talipes equinovarus","Pes equinovarus","Pes equinus","Fetal foot inversion","Foetal foot inversion"],[1883]],[1763,"Pes planus",["Flat feet","Flat foot","Dropped arches","Fallen arches"],[1760]],[1765,"Hammertoe",["Hammer toe","Hammertoes"],[34398]],[1769,"Broad foot",["Broad feet","Wide foot"],[1760]],[1770,"Toe syndactyly",["Foot syndactyly","Fused toes","Syndactyly of feet","Syndactyly of toes","Webbed toes"],[1159,1780]],[1771,"Achilles tendon contracture",["Achilles tendon contractures","Contractures of the Achilles tendon","Shortening of the achilles tendon","Tight achilles tendon"],[5109,8366]],[1772,"Talipes equinovalgus",["Equinovalgus deformity"],[1883]],[1773,"Short foot",["Hypoplastic feet","Short feet","Small feet"],[6494]],[1775,"Tarsal osteovalgus",[],[8365,5210430]],[1776,"Bilateral talipes equinovarus",["Bilateral clubfeet","Bilateral clubfoot","Club foot on both sides"],[1762]],[1780,"Abnormal toe morphology",["Abnormalities of the toes","Abnormality of toe"],[1760,11297]],[1782,"Bulbous tips of toes",[],[1780]],[1783,"Broad metatarsal",["Wide long bone of foot","Broad metatarsals","Widened metatarsal shaft"],[1832]],[1785,"Ankle swelling",[],[34673]],[1786,"Narrow foot",["Slender feet"],[1760]],[1787,"Abnormal delivery",["Delivery complication"],[1197]],[1788,"Premature rupture of membranes",[],[1787]],[1789,"Hydrops fetalis",[],[969,34058]],[1790,"Nonimmune hydrops fetalis",["Hydrops fetalis, non-immune","Hydrops fetalis, nonimmune","Non-immune fetal hydrops","Non-immune foetal hydrops","Nonimmune hydrops"],[1789]],[1791,"Fetal ascites",["Foetal ascites"],[1541,34207]],[1792,"Small nail",["Hypoplastic nail","Hypoplastic nails","Nail hypoplasia","Small nails"],[8386]],[1795,"Hyperconvex nail",["Increased nail curvature","Nail overcurvature"],[2164]],[1798,"Anonychia",["Absent nails","Aplastic nails"],[8386]],[1799,"Short nail",["Short nails"],[8386]],[1800,"Hypoplastic toenails",["Underdeveloped toenails"],[1792,10624]],[1802,"Absent toenail",["Absent toenails","Absent toenails (anonychia)","Anonychia of toenails"],[1798,10624]],[1803,"Nail pits",["Nail pitting","Pitted nails"],[25757]],[1804,"Hypoplastic fingernail",["Small fingernail","Underdeveloped fingernail"],[1231,1792]],[1805,"Onychogryphosis",["Dystrophic thickened nails","Onychogryposis","Thick nail","Thickened nails"],[1597]],[1806,"Onycholysis",["Detachment of nail","Oncholysis"],[25756]],[1807,"Ridged nail",["Grooved nails","Longitudinal ridging","Nail ridging","Ridged nails"],[25757]],[1808,"Fragile nails",["Brittle nails"],[1597]],[1809,"Split nail",["Longitudinal splitting of nail"],[2164]],[1810,"Dystrophic toenail",["Dystrophic toenail changes","Poor toenail formation","Dystrophic toenails"],[8388,8404]],[1812,"Hyperconvex fingernails",["Tubular fingernails"],[1795]],[1814,"Deep-set nails",[],[2164]],[1816,"Thin nail",["Thin nails"],[1597]],[1817,"Absent fingernail",["Aplasia of the fingernail","Anonychia of fingernails"],[1798]],[1818,"Paronychia",[],[100803]],[1820,"Leukonychia",["White discoloration of nails"],[100643]],[1821,"Broad nail",["Broad fingernails","Wide fingernails"],[2164]],[1822,"Hallux valgus",["Bunion","Lateral deviation of great toe","Lateral deviation of halluces"],[10051]],[1824,"Weight loss",["Loss of weight"],[4325]],[1827,"Genital tract atresia",[],[12243]],[1829,"Foot polydactyly",["Duplication of bones of the toes","Polydactyly of feet","Polydactyly of the foot"],[1780,9136,10442]],[1830,"Postaxial foot polydactyly",["Extra toe attached near the little toe","Polydactyly affecting the 5th toe","Postaxial polydactyly of feet","Postaxial polydactyly of foot","Posterior polydactyly of foot","Fibular polydactyly"],[1829,10322,100259]],[1831,"Short toe",["Brachydactyly of the foot","Hypoplasia of the toe","Hypoplastic toes","Short foot phalanges","Short toes","Stubby toes"],[1991,11927]],[1832,"Abnormal metatarsal morphology",["Abnormality of the long bone of foot"],[1760,40069]],[1833,"Long foot",["Disproportionately large feet","large feet","long feet"],[1760]],[1836,"Camptodactyly of toe",["Camptodactyly of feet"],[5830,12385]],[1837,"Broad toe",["Wide toe"],[1780]],[1838,"Rocker bottom foot",["Congenital vertical talus","Rocker bottom feet","Rocker-bottom feet","Rockerbottom feet"],[8365,5210430]],[1839,"Split foot",["Foot ectrodactyly","Lobster-claw foot deformity","Split-foot"],[1760,100257]],[1840,"Metatarsus adductus",["Forefoot varus","Front half of foot turns inward","Metatarsus adductovarsus","Metatarsus varus","Sickle foot","Sickled feet","Intoe"],[1832]],[1841,"Preaxial foot polydactyly",["Partial/complete duplication of the phalanges of the big toe","Polydactyly affecting the hallux","Preaxial hallucal polydactyly","Preaxial polydactyly of feet","Preaxial polydactyly of foot","Preaxial polydactyly of the feet","Preaxial polydactyly, feet"],[1829,1844,100258]],[1842,"Foot acroosteolysis",["Acroosteolysis of feet"],[10177]],[1844,"Abnormal hallux morphology",["Abnormalities of the hallux","Abnormality of the big toe","Abnormality of the hallux"],[1780]],[1845,"Overlapping toe",["Overlapping toes","Overriding toes","Crossover toe"],[34398]],[1847,"Long hallux",["Increased length of the hallux","Large halluces","Long big toe","Long halluces"],[1844,10511]],[1848,"Calcaneovalgus deformity",["Foot and ankle bend up toward shin of leg","Calcaneovalgus","Calcaneovalgus Foot","Valgus position of the calcaneus"],[8119,8364,5210430]],[1849,"Foot oligodactyly",["Missing toes","Oligodactyly of feet"],[10760,12165]],[1850,"Abnormality of the tarsal bones",["Abnormal ankle bones","Abnormal tarsals"],[1760,40069]],[1852,"Sandal gap",["Gap between 1st and 2nd toes","Gap between first and second toe","Increased space between first and second toes","Sandal gap between first and second toes","Space between great toe and second toe","Wide space between 1st, 2nd toes","Wide space between first and second toes","Wide-spaced big toe","Widely spaced 1st-2nd toes","Widely spaced first and second toes","Widened gap 1st-2nd toes","Widened gap first and second toe"],[1780]],[1853,"Bifid distal phalanx of toe",["Bifid distal phalanges of toes","Bifid terminal phalanx of toe","Notched outermost bones of toes"],[9136]],[1854,"Podagra",["Gout of big toe"],[1760,1997]],[1857,"Short distal phalanx of toe",["Hypoplastic distal phalanges of feet","Short outermost bone of toe"],[5035,10185]],[1859,"Distal toe symphalangism",[],[10179,100263]],[1863,"Toe clinodactyly",["Toe curvature","Clinodactyly of feet"],[30084,100498]],[1864,"Clinodactyly of the 5th toe",["Curvature of the little toe","Curvature of the pinkie toe","Curvature of the pinky toe"],[1863,10344]],[1868,"Autoamputation of foot",[],[1218,1760]],[1869,"Deep plantar creases",["Deep wrinkles in soles of feet"],[100872]],[1870,"Acroosteolysis of distal phalanges (feet)",["Acroosteolysis of distal phalanges of feet"],[1842,10189]],[1871,"Abnormality of blood and blood-forming tissues",["Abnormality of the haematopoietic system","Abnormality of the hematopoietic system","Haematological abnormality","Hematological abnormality","Hematologic disease"],[118]],[1872,"Abnormality of thrombocytes",["Platelet abnormalities","Blood platelet disease","Thrombasthenia"],[1871]],[1873,"Thrombocytopenia",["Low platelet count"],[11873]],[1874,"Abnormality of neutrophils",["Abnormality of neutrophil","Abnormality of polymorphonuclear neutrophils"],[1911]],[1875,"Decreased total neutrophil count",["Low blood neutrophil count","Low neutrophil count","Neutropenia","Neutropoenia","Peripheral neutropenia"],[11991]],[1876,"Pancytopenia",["Low blood cell count","Pancytopaenia"],[12145]],[1877,"Abnormal erythrocyte morphology",["Abnormality of erythrocytes","Abnormality of red blood cells","Abnormality of erythroid lineage cell"],[1871]],[1878,"Hemolytic anemia",["Haemolytic anaemia","Haemolytic anemia","Hemolytic anaemia","Increased hemolysis"],[11895]],[1879,"Abnormal eosinophil morphology",["Abnormality of eosinophils"],[1911]],[1880,"Increased total eosinophil count",["Eosinophilia","High blood eosinophil count","Increased eosinophil count"],[20064]],[1881,"Abnormal leukocyte morphology",["Abnormality of leukocytes"],[1871,10987]],[1882,"Decreased total leukocyte count",["Decreased blood leukocyte number","Leukopenia","Low white blood cell count"],[11893]],[1883,"Talipes",["Talipes foot deformities"],[5656]],[1884,"Talipes calcaneovalgus",["Pes calcaneovarus"],[1883]],[1885,"Short 2nd toe",["Short second toe"],[1831]],[1886,"Foot osteomyelitis",["Foot bone infection"],[1760,2754]],[1888,"Decreased total lymphocyte count",["Absolute lymphocyte count decrease","Decreased blood lymphocyte number","Low lymphocyte number","Lymphocytopenia","Lymphopenia"],[40088]],[1889,"Megaloblastic anemia",["Megaloblastic anaemia"],[1972]],[1890,"Autoimmune hemolytic anemia",["Autoimmune haemolytic anaemia","Autoimmune haemolytic anemia","Autoimmune hemolytic anaemia","Hemolytic anemia, autoimmune"],[1878,5210419]],[1891,"Iron deficiency anemia",["Ferropenic","Iron deficiency anaemia","Iron-deficiency anaemia","Iron-deficiency anemia"],[1931]],[1892,"Abnormal bleeding",["Bleeding diathesis","Bleeding tendency","Hemorrhagic diathesis"],[1871]],[1894,"Thrombocytosis",["Increased number of platelets in blood","Increased platelet count","Thrombocythaemia","Thrombocythemia"],[11873]],[1895,"Normochromic anemia",["Normochromic anaemia"],[10972]],[1896,"Reticulocytopenia",[],[4312]],[1897,"Normocytic anemia",["Normocytic anaemia"],[10972]],[1898,"Increased red blood cell mass",["Increased RBC mass"],[1901]],[1899,"Increased hematocrit",["Increased Hct"],[31850]],[1900,"Increased circulating hemoglobin concentration",["Increased Hb","Increased Hb concentration","Increased haemoglobin","Increased haemoglobin concentration","Increased hemoglobin","Increased hemoglobin concentration"],[1901,20061]],[1901,"Polycythemia",["Abnormally shaped erythrocytes","Erythrocytosis","Increased red blood cells","Polyglobulia"],[1877]],[1902,"Giant platelets",[],[11877]],[1903,"Anemia",["Anaemia","Low number of red blood cells or haemoglobin","Low number of red blood cells or hemoglobin","Decreased haemoglobin","Decreased hemoglobin"],[1877]],[1904,"Autoimmune neutropenia",["Neutropenia in presence of anti-neutropil antibodies"],[1875,5210419]],[1905,"Congenital thrombocytopenia",["thrombocytopenia, congenital"],[1873]],[1907,"Thromboembolism",["Blood clot in blood vessel","Thromboembolic disease","Thromboembolic events","Embolism and thrombosis"],[1977]],[1908,"Hypoplastic anemia",["Hypoplastic anaemia"],[10972]],[1909,"Leukemia",["Blood cancer","Leukaemia"],[1881,4377]],[1911,"Abnormal granulocyte morphology",["Abnormality of granulocytes"],[10974]],[1912,"Abnormal basophil morphology",["Abnormality of basophils"],[1911]],[1913,"Decreased total granulocyte count",["Granulocytopenia"],[32309]],[1915,"Aplastic anemia",["Aplastic anaemia"],[1876]],[1917,"Renal amyloidosis",[],[12210,20015]],[1919,"Acute kidney injury",["AKI","Acute kidney failure","Acute renal failure"],[83]],[1920,"Renal artery stenosis",["Narrowing of kidney artery"],[8776,100545]],[1922,"Vacuolated lymphocytes",["Enlarged lysosomal vacuoles in lymphocytes","Vacuolated blood lymphocytes"],[4332]],[1923,"Reticulocytosis",["Increased immature red blood cells","Increased number of immature red blood cells","Increased reticulocyte count","Increased reticulocytes"],[4312]],[1924,"Sideroblastic anemia",["Hypersideremic anaemia","Hypersideremic anemia","Sideroblastic anaemia"],[10972]],[1927,"Acanthocytosis",["Acanthocytes","Red cell acanthocytosis"],[4447]],[1928,"Abnormality of coagulation",["Abnormal blood coagulation studies","Coagulation abnormalities","Coagulation abnormality","Haemorrhagic disorders","Blood coagulation disorder"],[1871]],[1929,"Reduced factor XI activity",["Low factor XI activity","Factor XI deficiency"],[10989]],[1930,"Nonspherocytic hemolytic anemia",["Nonspherocytic hemolytic anaemia"],[1878]],[1931,"Hypochromic anemia",[],[10972]],[1933,"Subcutaneous hemorrhage",["Bleeding below the skin","Subcutaneous haemorrhage"],[1892,11276]],[1934,"Persistent bleeding after trauma",["Excessive bleeding after minor trauma","Frequent bleeding with trauma","Prolonged bleeding after minor trauma"],[1892]],[1935,"Microcytic anemia",["Microcytic anaemia"],[10972]],[1937,"Microangiopathic hemolytic anemia",["Microangiopathic hemolytic anaemia"],[1878]],[1939,"Abnormality of metabolism/homeostasis",["Laboratory abnormality","Metabolism abnormality"],[118]],[1941,"Acidosis",[],[4360]],[1942,"Metabolic acidosis",[],[1941]],[1943,"Hypoglycemia",["Hypoglycaemia","Low blood sugar"],[11015]],[1944,"Dehydration",["Exsiccosis"],[11032]],[1945,"Fever",["Hyperthermia","Pyrexia"],[4370]],[1946,"Ketosis",["High levels of ketone bodies","Hyperketosis"],[1939]],[1947,"Renal tubular acidosis",["Accumulation of acid in body due to kidney problem"],[124,1942]],[1948,"Alkalosis",[],[4360]],[1949,"Hypokalemic alkalosis",[],[1948]],[1950,"Respiratory alkalosis",[],[1948]],[1951,"Episodic ammonia intoxication",[],[1987]],[1952,"Glucose intolerance",["Abnormal glucose tolerance"],[11014]],[1953,"Diabetic ketoacidosis",["Diabetic ketosis"],[819,1993]],[1954,"Recurrent fever",["Episodic fever","Hyperthermia, episodic","Increased body temperature, episodic","Intermittent fever"],[1945]],[1955,"Unexplained fevers",[],[1945]],[1956,"Truncal obesity",["Centripetal obesity"],[1513]],[1958,"Nonketotic hypoglycemia",[],[1943]],[1959,"Polydipsia",["Extreme thirst"],[30082]],[1960,"Hypokalemic metabolic alkalosis",[],[1949,200114]],[1961,"Hypoplastic ventricle",["Underdeveloped cardiac ventricle"],[1627]],[1962,"Palpitations",["Heart palpitations","Missed heart beat","Skipped heart beat"],[11675]],[1963,"Abnormal speech discrimination",["Poor speech discrimination"],[364]],[1964,"Aplasia/Hypoplasia of metatarsal bones",["Absent or hypoplastic metatarsal","Absent/hypoplastic metacarpals","Absent/hypoplastic metatarsals","Absent/small long bone of foot","Absent/underdeveloped long bone of foot","Aplastic/hypoplastic metatarsals"],[1832,6494]],[1965,"Abnormal scalp morphology",["Abnormality of the scalp","Anomaly of scalp"],[234]],[1966,"Abnormal glomerular mesangium morphology",["Abnormality glomerular mesangium morphology","Abnormality of the glomerular mesangium","Mesangial abnormality"],[95]],[1967,"Diffuse mesangial sclerosis",["Diffuse mesangial sclerosis glomerulopathy","Mesangial sclerosis"],[1966]],[1969,"Abnormal tubulointerstitial morphology",["Tubulointerstitial abnormality","Tubulointerstitial nephropathy"],[91,32581]],[1970,"Tubulointerstitial nephritis",["Interstitial nephritis","Nephritis, Tubulointerstitial"],[1969]],[1971,"Hypersplenism",[],[25409]],[1972,"Macrocytic anemia",["Macrocytic anaemia"],[10972]],[1973,"Autoimmune thrombocytopenia",["Idiopathic thrombocytopenia","Immune thrombocytopenia","Idiopathic thrombocytopenic purpura"],[1873,5210419]],[1974,"Increased total leukocyte count",["Elevated white blood count","High white blood count","Increased blood leukocyte number","Leukocytosis"],[11893]],[1975,"Decreased platelet glycoprotein IIb-IIIa",["Reduced level of platelet glycoprotein IIb/IIIa complex","Glanzmann thrombasthenia"],[11878]],[1976,"Reduced antithrombin III activity",["Anti-thrombin III deficiency","Antithrombin III deficiency","Decreased antithrombin III"],[10988,10989]],[1977,"Abnormal thrombosis",["Abnormal blood clot","Abnormal blood clotting"],[1871]],[1978,"Extramedullary hematopoiesis",["Extramedullary erythropoiesis"],[1871]],[1980,"Megaloblastic bone marrow",[],[12145]],[1981,"Schistocytosis",["Schistocytes"],[4447]],[1982,"Sea-blue histiocytosis",["Sea-blue histiocyte"],[4311]],[1983,"Reduced lymphocyte surface expression of CD43",["Cd43 defectively expressed on surface of blood cells","Reduced lymphocyte surface expression of sialophorin"],[31383]],[1984,"Intolerance to protein",[],[12537]],[1985,"Hypoketotic hypoglycemia",["Hypoglycemia, hypoketotic"],[1943]],[1986,"Hypertonic dehydration",["Hyperosmolar dehydration"],[1944]],[1987,"Hyperammonemia",["High blood ammonia levels"],[2157]],[1988,"Recurrent hypoglycemia",["Hypoglycemic episodes","Recurrent hypoglycaemia","Recurrent hypoglycemic episodes","Recurrent low blood sugar levels","hypoglycaemia, recurrent","hypoglycemia, recurrent"],[1943]],[1989,"Fetal akinesia sequence",["Foetal akinesia sequence","Early severe fetal akinesia sequence","Early severe foetal akinesia sequence","Fetal akinesia","Foetal akinesia"],[1558]],[1991,"Aplasia/Hypoplasia of toe",["Absent/small toe","Absent/underdeveloped toe","Aplastic/hypoplastic toe phalanges","Absent/hypoplastic toes"],[1780,6494]],[1992,"Organic aciduria",[],[12072]],[1993,"Ketoacidosis",[],[1941,1946]],[1994,"Renal Fanconi syndrome",["De toni-fanconi-debre syndrome","Renal tubular fanconi syndrome"],[1947,11038]],[1995,"Hyperchloremic acidosis",[],[1941]],[1996,"Chronic metabolic acidosis",[],[1942,12468]],[1997,"Gout",["Gouty arthritis"],[1369]],[1998,"Neonatal hypoglycemia",["Low blood sugar in newborn"],[1943]],[1999,"Abnormal facial shape",["Deformity of face","Malformation of face","Abnormal morphology of the face","Distinctive facies","Dysmorphic facial features","Dysmorphic facies","Facial dysmorphism","Unusual facial appearance","Unusual facies","Distortion of face","Funny looking face"],[271]],[2000,"Short columella",["Columella, short","Decreased length of columella","Hypoplasia of columella"],[9929]],[2002,"Deep philtrum",["Increased depth of philtrum","Philtrum, deep","Prominent philtrum","Pronounced philtrum","Depressed philtrum"],[288]],[2003,"Large forehead",["Increased size of forehead","Increased size of frontal region of face","Hyperplasia of forehead","Hypertrophy of forehead"],[290]],[2006,"Tessier cleft",["Cleft of the face","Facial cleft","Tessier facial cleft","Facial clefts"],[271,5201015]],[2007,"Frontal bossing",["Frontal protuberance","Skull bossing"],[290,11218]],[2009,"Potter facies",[],[11334]],[2010,"Narrow maxilla",["Decreased breadth of upper jaw bones","Decreased transverse dimension of maxilla","Decreased width of maxilla","Decreased width of upper jaw bones","Narrow upper jaw bones","Transverse hypoplasia of maxilla","Transverse maxillary deficiency","Transverse maxillary insufficiency"],[326]],[2011,"Morphological central nervous system abnormality",["Abnormality of the central nervous system","Morphological abnormality of the CNS","Morphological abnormality of the central nervous system","Central nervous system disease"],[12639]],[2012,"Abnormality of the abdominal organs",["Gastrointestinal tract defects"],[25031]],[2013,"Vomiting",["Emesis","Throwing up"],[2017]],[2014,"Diarrhea",["Diarrhoea","Watery stool"],[11458]],[2015,"Dysphagia",["Difficulty swallowing","Poor swallowing","Swallowing difficulties","Swallowing difficulty","Deglutition disorder"],[12638,25270]],[2017,"Nausea and vomiting",[],[11458]],[2018,"Nausea",[],[2017]],[2019,"Constipation",["Costiveness","Dyschezia"],[11458]],[2020,"Gastroesophageal reflux",["Acid reflux","Acid reflux disease","GERD","GORD","Gastro-esophageal reflux","Gastro-oesophageal reflux","Gastroesophageal reflux disease","Heartburn"],[25270]],[2021,"Pyloric stenosis",["Infantile hypertrophic pyloric stenosis","Pylorus stenosis"],[4400]],[2023,"Anal atresia",["Absent anus","Imperforate anus"],[34915]],[2024,"Malabsorption",["Intestinal malabsorption"],[25032]],[2025,"Anal stenosis",["Narrowing of anal opening"],[34915]],[2027,"Abdominal pain",["Gastro pain","Gastrointestinal pain","Pain in stomach","Stomach pain","Abdominal discomfort","Upset stomach"],[11458,12531]],[2028,"Chronic diarrhea",["Chronic diarrhoea","Diarrhea, recurrent","Recurrent diarrhea","Recurrent diarrhoea"],[2014]],[2031,"Abnormal esophagus morphology",["Abnormal oesophagus morphology","Abnormality of esophagus structure","Abnormality of oesophagus structure","Anomaly of the esophagus","Anomaly of the oesophagus"],[12718]],[2032,"Esophageal atresia",["Birth defect in which part of esophagus did not develop","Birth defect in which part of oesophagus did not develop"],[2031,2589]],[2033,"Poor suck",["Poor sucking","Sucking weakness"],[8872]],[2034,"Abnormal rectum morphology",["Abnormality of the rectum","Anomaly of the rectum"],[2250,12732]],[2035,"Rectal prolapse",["Rectum protrudes through anus","Rectal prolapsed"],[2034]],[2036,"Hiatus hernia",["Hiatal hernia","Stomach hernia"],[2577,100790]],[2037,"Inflammation of the large intestine",["Inflammatory bowel disease"],[2250,4386]],[2038,"Protein avoidance",[],[11458]],[2039,"Anorexia",["Deliberately not eating","Obsessive dieting","Refusing to eat"],[11458]],[2040,"Esophageal varix",["Enlarged vein in esophagus","Enlarged vein in oesophagus","Esophageal varices"],[2031]],[2041,"Intractable diarrhea",["Intractable diarrhoea"],[2014]],[2043,"Esophageal stricture",["Narrowing of esophagus due to inflammation and scar tissue","Narrowing of oesophagus due to inflammation and scar tissue"],[10450]],[2044,"Zollinger-Ellison syndrome",[],[7378]],[2045,"Hypothermia",["Abnormally low body temperature"],[4370]],[2046,"Heat intolerance",["Intolerance to heat and fevers"],[4370]],[2047,"Malignant hyperthermia",[],[4370]],[2048,"Renal cortical atrophy",[],[11035,12585]],[2049,"Proximal renal tubular acidosis",["Proximal tubular acidosis","Renal tubular acidosis, proximal","Renal tubular acidosis, type II"],[1947]],[2050,"Macroorchidism, postpubertal",[],[53]],[2054,"Heavy supraorbital ridges",["Heavy brow of the face","Heavy supraorbital ridge"],[336]],[2055,"Curved linear dimple below the lower lip",[],[178]],[2056,"Abnormality of the glabella",["Abnormality of the area between the eyebrows","Glabellar abnormality","Deformity of the area between the eyebrows","Malformation of the area between the eyebrows"],[290]],[2057,"Prominent glabella",["Convex glabella","Hyperplasia of glabella","Prominent area between the eyebrows","Protruding area between the eyebrows"],[2056]],[2058,"Myopathic facies",["Myopathic face","Myopathic facial appearance"],[4673]],[2059,"Cerebral atrophy",["Degeneration of cerebrum","Supratentorial atrophy"],[7369]],[2060,"Abnormal cerebral morphology",["Abnormality of the cerebrum","Abnormality of the telencephalon","Cerebral lesion"],[100547]],[2061,"Lower limb spasticity",["Lower extremities spasticity","Lower extremity spasticity","Spastic lower extremities","Spastic lower extremity","Spastic lower limb","Spastic lower limbs","Spasticity in lower extremities","Spasticity in lower extremity","Spasticity in lower limb","Spasticity in lower limbs","Spasticity of lower extremities","Spasticity of lower extremity","Spasticity of lower limb","Spasticity of lower limbs"],[34353]],[2062,"Abnormal pyramidal tract morphology",["Abnormality of the pyramidal tracts","Morphological abnormality of the pyramidal tract","Pyramidal tract disease"],[2011]],[2063,"Rigidity",["Muscle rigidity"],[1276]],[2064,"Spastic gait",["Spastic walk"],[1257,1288]],[2066,"Gait ataxia",["Ataxia of gait","Ataxic gait","Inability to coordinate movements when walking"],[1251,1288]],[2067,"Bradykinesia",["Slow movements","Slowness of movements"],[2071]],[2068,"Neuromuscular dysphagia",[],[2015]],[2069,"Bilateral tonic-clonic seizure",["Bilateral convulsive seizures","Generalised convulsion","Generalised tonic-clonic seizure (without specification of onset)","Generalized convulsion","Generalized tonic-clonic seizure (without specification of onset)","Grand mal","Grand mal seizures","Seizures, tonic-clonic","Tonic-clonic convulsion","Tonic-clonic convulsions"],[1250]],[2070,"Limb ataxia",["Appendicular ataxia"],[1251]],[2071,"Abnormality of extrapyramidal motor function",["Extrapyramidal dysfunction","Extrapyramidal signs","Extrapyramidal symptoms","Extrapyramidal syndrome","Extrapyramidal tract signs"],[11442]],[2072,"Chorea",["Choreic movements","Choreiform movements","Choreatic disease"],[4305]],[2073,"Progressive cerebellar ataxia",["Cerebellar ataxia, progressive","Progressive ataxia"],[1251]],[2074,"Increased neuronal autofluorescent lipopigment",["Neuronal lipopigments"],[11813]],[2075,"Dysdiadochokinesis",["Difficulty performing quick and alternating movements","Dysdiadochokinesia"],[1251]],[2076,"Migraine",["Intermittent migraine headaches","Migraine headache","Migraine headaches"],[2315]],[2077,"Migraine with aura",[],[2076]],[2078,"Truncal ataxia",["Instability or lack of coordination of central trunk muscles","Trunk ataxia"],[1251]],[2079,"Hypoplasia of the corpus callosum",["Corpus callosum hypoplasia","Hypoplasia of corpus callosum","Hypoplastic corpus callosum","Underdevelopment of part of brain called corpus callosum"],[7370]],[2080,"Intention tremor",["Cerebellar tremor","Terminal tremor"],[30186]],[2083,"Migraine without aura",[],[2076]],[2084,"Encephalocele",["Bifid skull","Cranium bifidum"],[11815,34237]],[2085,"Occipital encephalocele",["Brain tissue sticks out through back of skull","Occipital meningoencephalocele","Posterior encephalocele"],[2084]],[2086,"Abnormality of the respiratory system",["Respiratory abnormality"],[118]],[2087,"Abnormality of the upper respiratory tract",["Upper respiratory tract issues"],[12252]],[2088,"Abnormal lung morphology",["Abnormality of lung structure","Abnormality of the lungs","Abnormally shaped lung","Unusual lung shape","Lung disease"],[12252]],[2089,"Pulmonary hypoplasia",["Hypoplastic lung","Hypoplastic lungs","Lung hypoplasia","Poorly developed lungs","Small lung","Underdeveloped lung"],[6703]],[2090,"Pneumonia",[],[12649,5210123]],[2091,"Restrictive ventilatory defect",["Restrictive deficit on pulmonary function testing","Restrictive deficit on pulmonary function tests","Restrictive respiratory disease","Restrictive respiratory insufficiency","Restrictive respiratory syndrome","Spirometric restriction","Stiff lung or chest wall causing decreased lung volume","Restrictive lung disease"],[30878]],[2092,"Pulmonary arterial hypertension",["Increased blood pressure in blood vessels of lungs","Pulmonary artery hypertension","Primary pulmonary hypertension"],[33578]],[2093,"Respiratory insufficiency",["Respiratory impairment","Respiratory function loss"],[2795]],[2094,"Dyspnea",["Abnormal breathing","Breathing difficulty","Difficult to breathe","Difficulty breathing","Dyspnoea","Shortness of breath","Trouble breathing","Panting"],[2793]],[2097,"Emphysema",["Pulmonary emphysema"],[2088]],[2098,"Respiratory distress",["Breathing difficulties","Labored breathing","Laboured breathing"],[2094]],[2099,"Asthma",["Bronchial asthma","Reactive airway disease"],[2795,100326]],[2100,"Recurrent aspiration pneumonia",["Recurrent pneumonia due to aspiration"],[11951]],[2101,"Abnormal lung lobation",["Abnormal pulmonary lobation","Defective lung lobation","Lung segmentation defects"],[4000059]],[2102,"Pleuritis",["Inflammation of tissues lining lungs and chest","Pleurisy"],[2103]],[2103,"Abnormal pleura morphology",["Abnormality of the pleura"],[2088]],[2104,"Apnea",["Absence of spontaneous respiration","Apneic episodes","Apnoea"],[2793]],[2105,"Hemoptysis",["Coughing up blood","Haemoptysis","Coughing up blood or blood-stained mucus"],[32016]],[2107,"Pneumothorax",["Collapsed lung"],[2103]],[2108,"Spontaneous pneumothorax",["Spontaneous collapsed lung"],[2107]],[2110,"Bronchiectasis",["Permanent enlargement of the airways of the lungs"],[25426]],[2113,"Pulmonary infiltrates",["Lung infiltrates","Pulmonic infiltration"],[31983]],[2118,"Abnormal cerebral ventricle morphology",["Abnormality of the cerebral ventricles"],[12443]],[2119,"Ventriculomegaly",["Cerebral ventricular dilatation","Dilated cerebral ventricle","Dilated cerebral ventricles","Dilated ventricles","Enlarged cerebral ventricles","Enlarged ventricles","Enlarged ventricular system","Large cerebral ventricles and cisternae","Ventricular dilatation"],[2118]],[2120,"Cerebral cortical atrophy",["Cerebral cortex atrophy","Cortical atrophy","Decrease in size of the outer layer of the brain due to loss of brain cells"],[2059,2538]],[2121,"Generalized non-motor (absence) seizure",["Absence seizure","Absence seizures","Brief seizures with staring spells","Generalised non-motor (absence) seizure","Generalised non-motor seizure","Petit mal","Petit mal seizure","Petit mal seizures"],[2197,11146,33259]],[2123,"Generalized myoclonic seizure",["Generalised epileptic myoclonus","Generalised myoclonic seizure","Generalised myoclonic seizures","Generalized epileptic myoclonus","Generalized myoclonic seizures","Myoclonus seizures","Myoclonic epilepsy, progressive"],[32677,32794]],[2126,"Polymicrogyria",["More grooves in brain"],[2536]],[2127,"Abnormal upper motor neuron morphology",["Abnormal shape of upper motor neuron"],[2450]],[2131,"Episodic ataxia",["Intermittent cerebellar ataxia","Paroxysmal ataxia"],[1251]],[2132,"Porencephalic cyst",["Cavity within brain"],[2060]],[2133,"Status epilepticus",["Prolonged seizure","Repeated seizure without recovery","Repeated seizures without recovery between them"],[1250]],[2134,"Abnormal basal ganglia morphology",["Abnormality of the basal ganglia","Anomaly of the basal ganglia","Basal ganglia disease"],[10993]],[2135,"Basal ganglia calcification",["Basal ganglia calcifications","Basal ganglion calcification","Calcification of the basal ganglia"],[2134,2514]],[2136,"Broad-based gait",["Broad based gait","Wide based gait","Wide based walk","Wide-based gait"],[1288]],[2138,"Subarachnoid hemorrhage",[],[2170,12703]],[2139,"Arrhinencephaly",["Arhinencephaly"],[100547]],[2140,"Ischemic stroke",["Ischaemic stroke"],[1297,2637,25722]],[2141,"Gait imbalance",["Abnormality of balance","Abnormality of equilibrium","Imbalanced walk"],[1288]],[2143,"Abnormal spinal cord morphology",["Abnormality of the spinal cord","Spinal cord disease","Spinal cord pathology"],[2011]],[2144,"Tethered cord",["Occult spinal dysraphism"],[31938]],[2145,"Frontotemporal dementia",[],[726]],[2148,"Hypophosphatemia",["Decreased phosphate ion concentration","Decreased phosphate ion level","Decreased phosphate ion level in blood","Hypophosphataemia","Low blood phosphate level","Reduced phosphate ion concentration","Reduced phosphate ion level","Reduced phosphate ion level in blood"],[100529]],[2149,"Hyperuricemia",["Elevated uric acid concentration","Elevated uric acid level","Elevated uric acid level in blood","High blood uric acid level","Hyperuricaemia","Increased uric acid concentration","Increased uric acid level","Increased uric acid level in blood"],[2157,10932]],[2150,"Hypercalciuria",["Elevated urine calcium levels","Hypercalcinuria"],[11280]],[2151,"Increased circulating lactate concentration",["Higher than normal levels of lactate in blood","Increased blood lactate","Increased serum lactate"],[1941]],[2152,"Hyperproteinemia",[],[10876]],[2153,"Hyperkalemia",["Elevated potassium(1+) concentration","Elevated potassium(1+) level","Elevated potassium(1+) level in blood","Increased circulating potassium concentration","Increased potassium(1+) concentration","Increased potassium(1+) level","Increased potassium(1+) level in blood"],[11042]],[2154,"Hyperglycinemia",["Elevated blood glycine levels","Hyperglycinaemia"],[10895]],[2155,"Hypertriglyceridemia",["Elevated triglyceride concentration","Elevated triglyceride level","Elevated triglyceride level in blood","Increased circulating Tg levels","Increased plasma Tg levels","Increased plasma triglycerides","Increased serum triglycerides","Increased triglyceride concentration","Increased triglyceride level","Increased triglyceride level in blood","Increased triglycerides"],[3077]],[2156,"Homocystinuria",["High urine homocystine levels"],[33095]],[2157,"Azotemia",["Azotaemia"],[4364]],[2159,"Heparan sulfate excretion in urine",["Heparan sulphate excretion in urine"],[8155]],[2160,"Hyperhomocystinemia",["Elevated blood homocystine","Elevated homocystine concentration","Elevated homocystine level","Elevated homocystine level in blood","Homocystinemia","Increased homocystine concentration","Increased homocystine level","Increased homocystine level in blood"],[10919]],[2161,"Hyperlysinemia",["Elevated blood lysine","Elevated lysine concentration","Elevated lysine level","Elevated lysine level in blood","Increased lysine concentration","Increased lysine level","Increased lysine level in blood"],[10908]],[2162,"Low posterior hairline",["Low hairline at back of neck","Low posterior hair line"],[25668,30141]],[2164,"Nail dysplasia",["Atypical nail growth","Dysplastic nails","Onychodysplasia"],[1597]],[2165,"Nail pterygium",["Pterygium of nails"],[25756]],[2166,"Impaired vibration sensation in the lower limbs",["Decreased lower limb vibratory sense","Decreased vibratory sense in lower limbs","Decreased vibratory sense in the lower extremities","Decreased vibratory sense in the lower limbs","Diminished vibratory sensation in the legs","Distal sensory loss, especially vibratory sense","Distal vibratory impairment of the lower limbs"],[2495]],[2167,"Abnormal speech pattern",["Abnormal speech","Abnormal vocalisation","Abnormal vocalization","Abnormality of speech or vocalization"],[4000072]],[2168,"Scanning speech",["Explosive speech"],[2167]],[2169,"Clonus",["Involuntary rhythmic muscular contractions and relaxations"],[1347,4305]],[2170,"Intracranial hemorrhage",["Bleeding within the skull","Intracranial haemorrhage"],[11029,100659]],[2171,"Gliosis",["Cerebral gliosis","Excess astrocytes in brain"],[100705]],[2172,"Postural instability",["Balance impairment","Abnormal retropulsion test","Imbalance"],[100022]],[2173,"Hypoglycemic seizures",[],[1943,11145]],[2174,"Postural tremor",["Tremor, postural"],[2345]],[2176,"Spinal cord compression",["Pressure on spinal cord"],[2143]],[2179,"Opisthotonus",["Arc de cercle","Opisthotonos"],[1257]],[2180,"Neurodegeneration",["Ongoing loss of nerve cells","Neuro-degenerative disease","Neurodegenerative disease","Progressive neurodegenerative disorder"],[7367]],[2181,"Cerebral edema",["Brain swelling","Brain edema","Brain oedema","Cerebral oedema","Swelling of brain"],[969,2060]],[2183,"Phonophobia",["Fear of loud sounds"],[5200060]],[2185,"Neurofibrillary tangles",["NFTs","Neurofibrillary tangles composed of disordered microtubules in neurons","Paired helical filaments","Tau-positive neurofibrillary tangles","Tau-positive tangle"],[100314]],[2186,"Apraxia",["Apraxias"],[11442]],[2187,"Profound intellectual disability",["IQ less than 20","Intellectual disability, profound","Mental retardation, profound","Profound mental retardation"],[1249]],[2188,"Delayed CNS myelination",["Delay in central nervous system myelination"],[11400,12448]],[2190,"Choroid plexus cyst",[],[7376]],[2191,"Progressive spasticity",["Spasticity, progressive"],[1257]],[2193,"Pseudobulbar affect",["Pseudobulbar behavioral symptoms","Pseudobulbar behavioural symptoms"],[708,2200]],[2194,"Delayed gross motor development",["Delayed attainment of gross motor milestones","Delayed attainment of gross motor skills","Delayed development of gross motor milestones","Delayed development of gross motor skills","Delayed gross motor milestones","Delayed gross motor skills","Delayed motor skills","Developmental delay, gross motor","Gross motor delay","Limited gross motor development","Limited gross motor skills"],[1270]],[2195,"Dysgenesis of the cerebellar vermis",[],[2334]],[2196,"Myelopathy",[],[2143,34238]],[2197,"Generalized-onset seizure",["Generalised onset seizure","Generalised seizures","Generalised-onset seizure","Generalized onset seizure","Generalized seizures","Generalized-onset seizures","Primary generalised seizure","Primary generalized seizure"],[1250]],[2198,"Dilated fourth ventricle",["Enlarged fourth ventricle"],[2119,10950]],[2199,"Hypocalcemic seizures",["Low calcium seizures","Seizures due to hypocalcemia"],[11145]],[2200,"Pseudobulbar signs",["Pseudobulbar symptoms"],[12638]],[2202,"Pleural effusion",["Fluid around lungs"],[969,2103]],[2203,"Respiratory paralysis",[],[3470,4347]],[2204,"Pulmonary embolism",["Blood clot in artery of lung"],[30875]],[2205,"Recurrent respiratory infections",["Frequent respiratory infections","Multiple respiratory infections","Susceptibility to respiratory infections","respiratory infections, recurrent"],[2719,11947]],[2206,"Pulmonary fibrosis",["Pulmonary scarring"],[6530]],[2207,"Diffuse reticular or finely nodular infiltrations",[],[2113]],[2208,"Coarse hair",["Rough hair texture","Coarse hair texture"],[10719]],[2209,"Sparse scalp hair",["Decreased number of scalp follicles","Hypotrichosis on scalp","Reduced amount of scalp hair","Reduced/lack of hair on scalp","Reduction in the number of scalp follicles","Scalp hypotrichosis","Thinning scalp hair","Thin scalp hair"],[8070,100037]],[2211,"White forelock",["Poliosis of anterior hair","Poliosis of forelock hair","White part of hair above forehead"],[11365]],[2212,"Curly hair",[],[10719]],[2213,"Fine hair",["Fine hair shaft","Fine hair texture","Thin hair","Thin hair shaft","Thin hair texture","Thinned hair"],[10719]],[2215,"Sparse axillary hair",["Sparse axillary and pubic hair","Sparse scalp, axillary, and pubic hair","Limited armpit hair","Little underarm hair","sparse to absent axillary hair"],[8070,100134]],[2216,"Premature graying of hair",["Early graying","Early greying","Premature graying","Premature greying","Premature greying of hair","Premature hair graying","Premature hair greying","Premature graying of the hair","Premature greying of the hair"],[7495,9887]],[2217,"Slow-growing hair",["Delayed hair growth","Poor hair growth","Slow growing hair","Slow rate of hair growth","Slow speed of hair growth"],[11363]],[2218,"Silver-gray hair",["Silver-gray hair color","Silver-gray hair colour","Silvery-gray hair"],[11358]],[2219,"Facial hypertrichosis",["Increased facial hair growth"],[998]],[2220,"Melanin pigment aggregation in hair shafts",[],[9887]],[2221,"Absent axillary hair",[],[2298,100134]],[2223,"Absent eyebrow",["Absent eyebrows","Failure of development of eyebrows","Agenesis of eyebrows","Aplasia of eyebrows","Loss of eyebrows","Missing eyebrows"],[2298,100840]],[2224,"Woolly hair",["Nappy hair texture","Kinked hair","Wooly hair","Afro-textured hair","Kinky hair texture"],[10719]],[2225,"Sparse pubic hair",["Decreased sexual hair","sparse to absent pubic hair"],[8070,100133]],[2226,"White eyebrow",["Depigmented eyebrow","Hypopigmented eyebrow","Pale eyebrow","Grey eyebrow","Blonde eyebrow"],[534,9887]],[2227,"White eyelashes",["Blonde eyelashes","Depigmented eyelashes","Pale eyelashes","Grey eyelashes"],[499,9887]],[2230,"Generalized hirsutism",["Excessive hairiness over body","Generalised hirsutism"],[1007]],[2231,"Sparse body hair",["Limited body hair","Little body hair","Sparse to absent body hair"],[8070]],[2232,"Patchy alopecia",["Alopecia areata","Patchy baldness"],[1596,11360]],[2234,"Early balding",[],[11360]],[2235,"Pili canaliculi",[],[3328]],[2236,"Frontal upsweep of hair",["Cowlick","Frontal Cowlick","Upswept frontal hair","Upswept frontal hair pattern","Upswept frontal hairline"],[10721]],[2239,"Gastrointestinal hemorrhage",["GI haemorrhage","GI hemorrhage","Gastrointestinal bleeding","Gastrointestinal haemorrhage"],[11029,12719]],[2240,"Hepatomegaly",["Enlarged liver"],[3271,410042]],[2242,"Abnormal intestine morphology",["Abnormality of the intestine","Enteropathy"],[12718]],[2243,"Protein-losing enteropathy",[],[2244]],[2244,"Abnormal small intestine morphology",["Abnormality of the small intestine"],[2242]],[2245,"Meckel diverticulum",[],[1549]],[2246,"Abnormal duodenum morphology",["Abnormality of the duodenum"],[2244]],[2247,"Duodenal atresia",["Absence or narrowing of first part of small bowel"],[2246,11100]],[2248,"Hematemesis",["Vomiting blood"],[2239]],[2249,"Melena",["Black faeces","Black feces"],[2239,25085]],[2250,"Abnormal large intestine morphology",["Abnormality of the large intestine"],[2242]],[2251,"Aganglionic megacolon",["Enlarged colon lacking nerve cells","Hirschsprung megacolon","Hirschsprung disease"],[4362,6000852]],[2253,"Colonic diverticula",["Colonic diverticulosis","Colon diverticula"],[2250,5222]],[2254,"Intermittent diarrhea",["Episodic diarrhea","Episodic diarrhoea","Intermittent diarrhoea"],[2014]],[2256,"Small bowel diverticula",[],[2244,5222]],[2257,"Chronic rhinitis",[],[12384]],[2263,"Exaggerated cupid's bow",["Cupid bow upper lip","Cupid's bow, accentuated","Cupid-bow shaped upper lip","Prominent cupid-bow of upper lip"],[11339]],[2265,"Large fleshy ears",[],[400]],[2266,"Focal clonic seizure",["Focal clonic seizures","Localised clonic seizure","Localized clonic seizure","Partial clonic seizure","Segmental clonic seizure"],[11153,20221]],[2267,"Exaggerated startle response",["Exaggerated acoustic startle response","Increased startle response","Hyperekplexia"],[2071]],[2268,"Paroxysmal dystonia",["Episodic dystonia"],[1332]],[2269,"Abnormality of neuronal migration",["Abnormal neuronal migration","Heterotopias/abnormal migration","Migrational brain disorder","Neuronal migration disorder"],[2011]],[2270,"Abnormality of the autonomic nervous system",[],[410008]],[2273,"Tetraparesis",["Quadriparesis"],[30182]],[2277,"Horner syndrome",["Horner's syndrome","Oculosympathetic palsy"],[508,616,12332]],[2280,"Enlarged cisterna magna",["Large cisterna magna","Mega cisterna magna"],[5445]],[2282,"Gray matter heterotopia",["Gray matter heterotopias","Grey matter heterotopia","Grey matter heterotopias","Heterotopia","Heterotopias","Neuronal heterotopia"],[2269]],[2283,"Global brain atrophy",["Diffuse brain atrophy","Generalised brain atrophy","Generalised brain degeneration","Generalised cerebral atrophy","Generalized brain atrophy","Generalized brain degeneration","Generalized cerebral atrophy"],[2977,12444]],[2286,"Fair hair",["Blond hair","Fair hair color","Fair hair colour","Flaxen hair color","Flaxen hair colour","Light colored hair","Light coloured hair","Sandy hair color","Sandy hair colour","Straw colored hair","Straw coloured hair","Towhead (hair color)"],[11358]],[2287,"Progressive alopecia",[],[1596]],[2289,"Alopecia universalis",["Alopecia, complete","Universal alopecia"],[1596]],[2290,"Poliosis",["Patch of white hair","White patch"],[11365]],[2292,"Frontal balding",["Male pattern baldness"],[11360]],[2293,"Alopecia of scalp",["Absence of scalp hair","Baldness","Missing scalp hair","Pathologic hair loss from scalp","Scalp hair loss"],[1596,100037]],[2296,"Progressive hypotrichosis",[],[8070]],[2297,"Red hair",["Ginger hair color","Ginger hair colour","Red hair color","Red hair colour","Red head (hair color)"],[9887]],[2298,"Absent hair",[],[11362]],[2299,"Brittle hair",["Easily breakable hair","Fractured hair","Fragile hair","Reduced tensile strength of hair"],[10719]],[2300,"Mutism",["Inability to speak","Muteness"],[2167]],[2301,"Hemiplegia",["Paralysis on one side of body"],[4374]],[2304,"Akinesia",[],[2374]],[2305,"Athetosis",["Athetoid movements","Involuntary writhing movements","Involuntary writhing movements in fingers, hands, toes, and feet"],[4305]],[2307,"Drooling",["Dribbling","Sialorrhea"],[100755]],[2308,"Chiari malformation",["Arnold-Chiari malformation","Cerebellar tonsillar ectopia"],[1317]],[2310,"Orofacial dyskinesia",["Orofacial dyskinesias"],[100660]],[2311,"Incoordination",["Difficulties in coordination","Incoordination of limb movements","Limb incoordination","Poor coordination","Poor motor coordination"],[11443]],[2312,"Clumsiness",[],[11443]],[2313,"Spastic paraparesis",[],[2061,2385]],[2314,"Degeneration of the lateral corticospinal tracts",["Degeneration of lateral corticospinal tracts"],[7372]],[2315,"Headache",["Headaches"],[12638]],[2317,"Unsteady gait",["Gait instability","Unsteady walk"],[1288]],[2318,"Cervical myelopathy",["Cervical spondylotic myelopathy","Degenerative cervical myelopathy"],[2196]],[2321,"Vertigo",["Dizzy spell","Dizziness"],[1751]],[2322,"Resting tremor",["Rest tremor","Tremor at rest","Parkinsonian tremor"],[1337]],[2323,"Anencephaly",["Embryonic anencephaly","Fetal anencephaly","Foetal anencephaly"],[7364,34237]],[2324,"Hydranencephaly",["Hydrancephaly"],[2323]],[2326,"Transient ischemic attack",["Mini stroke","TIA","Transient ischaemic attack","Transient ischaemic attacks","Transient ischemic attacks"],[1297,2637]],[2329,"Drowsiness",["Abnormal drowsiness","Sleepiness","Sleepy","Somnolence"],[4372]],[2330,"Sleep attack",["Paroxysmal drowsiness","Sleep attacks"],[25288]],[2331,"Recurrent paroxysmal headache",[],[2315]],[2332,"Lack of peer relationships",[],[5200016]],[2333,"Motor deterioration",["Progressive degeneration of movement"],[1268]],[2334,"Abnormal cerebellar vermis morphology",["Abnormality of the cerebellar vermis"],[1317]],[2335,"Agenesis of cerebellar vermis",["Cerebellar vermis aplasia","Vermian agenesis"],[6817]],[2339,"Abnormal caudate nucleus morphology",["Abnormality of the caudate nucleus"],[10994]],[2340,"Caudate atrophy",["Caudate degeneration"],[7374]],[2341,"Cervical cord compression",["Cervical cord compression myelopathy"],[2176]],[2342,"Moderate intellectual disability",["IQ between 34 and 49","Intellectual disability, moderate","Mental retardation, moderate","Moderate mental deficiency","Moderate mental retardation"],[1249]],[2343,"Normal pressure hydrocephalus",["Normal-pressure hydrocephalus"],[238]],[2344,"Progressive neurologic deterioration",["Neurologic deterioration","Neurologic deterioration, progressive","Progressive mental deterioration","Progressive neurodegeneration","Worsening neurological symptoms"],[1268]],[2345,"Action tremor",["Ataxic tremor"],[1337]],[2346,"Head tremor",[],[30188]],[2349,"Focal aware seizure",["Focal aware seizures","Focal seizure with retained awareness","Focal seizure without impairment of awareness","Focal seizure without impairment of consciousness or awareness","Focal seizures without impairment of consciousness or awareness","Partial seizure with retained awareness","Partial seizure without impairment of awareness","Simple partial seizure","Simple partial seizures"],[7359]],[2350,"Cerebellar cyst",["Cerebellar cysts"],[1317,10576]],[2352,"Leukoencephalopathy",[],[2060]],[2353,"EEG abnormality",["Abnormal EEG","Abnormal electroencephalogram","EEG abnormalities","Electroencephalogram abnormal","Electroencephalogram abnormalities"],[30178]],[2354,"Memory impairment",["Amnesia","Forgetfulness","Memory loss","Memory problems","Poor memory"],[100543]],[2356,"Writer's cramp",[],[4373]],[2359,"Frequent falls",[],[4302]],[2360,"Sleep disturbance",["Difficulty sleeping","Sleep abnormality","Sleep disturbances","Sleep dysfunction","Sleep-wake disturbance","Trouble sleeping"],[11446]],[2361,"Psychomotor deterioration",["Psychomotor degeneration"],[1268]],[2362,"Shuffling gait",["Shuffled walk"],[1288]],[2363,"Abnormal brainstem morphology",["Abnormal shape of brainstem","Abnormality of brainstem morphology","Abnormality of the brainstem"],[12443]],[2365,"Hypoplasia of the brainstem",["Brainstem hypoplasia","Hypoplastic brain stem","Hypoplastic brainstem","Small brainstem","Underdeveloped brainstem"],[7362]],[2366,"Abnormal lower motor neuron morphology",["Lower motor neuron disease","Lower motor neuron manifestations","Lower motor neuron signs"],[759,2450]],[2367,"Visual hallucination",["Visual hallucinations"],[738]],[2371,"Loss of speech",[],[2167]],[2372,"Normal interictal EEG",[],[25373]],[2373,"Febrile seizure (within the age range of 3 months to 6 years)",["Febrile convulsion","Febrile seizures","Seizures, febrile, in early childhood","Seizures, generalized, associated with fever"],[32894]],[2374,"Diminished movement",[],[100022]],[2375,"Hypokinesia",["Decreased muscle movement","Decreased spontaneous movement","Decreased spontaneous movements"],[2374]],[2376,"Developmental regression",["Loss of acquired milestones","Loss of developmental milestones","Loss of milestones","Mental deterioration in childhood","Neurodevelopmental regression","Psychomotor regression","Psychomotor regression beginning in infancy","Psychomotor regression in infants","Psychomotor regression, progressive"],[12759]],[2378,"Hand tremor",["Tremor of hand","Tremor of hands","tremors in hands"],[30188]],[2380,"Fasciculations",["Fasciculation","Muscle fasciculation","Muscle twitch"],[4305]],[2381,"Aphasia",["Difficulty finding words","Losing words","Loss of words"],[2167]],[2383,"Infectious encephalitis",["Brain inflammation"],[11450]],[2384,"Focal impaired awareness seizure",["Complex focal seizures","Complex partial seizure","Complex partial seizures","Dyscognitive seizures","Focal dyscognitive seizure","Focal impaired awareness seizures","Focal seizure with impairment of awareness","Focal seizure with loss of awareness","Focal seizures with impairment of consciousness or awareness","Localised dyscognitive seizure","Localised seizure with impaired awareness","Localised seizure with loss of awareness","Localized dyscognitive seizure","Localized seizure with impaired awareness","Localized seizure with loss of awareness","Partial dyscognitive seizure","Partial seizure with impairment of awareness","Partial seizure with loss of awareness"],[7359,11146]],[2385,"Paraparesis",["Partial paralysis of legs"],[10551]],[2389,"Cavum septum pellucidum",["Large cavum septi pellucidi","Persistent cavum septum pellucidum","Widened cavum septum pellucidum"],[7375]],[2390,"Spinal arteriovenous malformation",[],[2143,100026]],[2392,"EEG with polyspike wave complexes",["EEG: spike and multispike waves, 3-4 hz"],[10850]],[2395,"Lower limb hyperreflexia",["Brisk lower extremity reflexes","Hyperreflexia in lower limbs","Hyperreflexia in the lower limbs","Increased deep tendon reflexes in the lower limbs","Leg hyperreflexia","Overactive lower leg reflex"],[1347]],[2396,"Cogwheel rigidity",[],[2063]],[2398,"Degeneration of anterior horn cells",["Anterior horn cell loss","Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord","Degeneration of spinal cord anterior horn cells","Loss of spinal cord anterior horn cells","Progressive loss of anterior horn cells","Spinal cord anterior horn cell degeneration"],[6802,7373]],[2401,"Stroke-like episode",["Stroke-like episodes","Strokelike episodes"],[1297]],[2403,"Positive Romberg sign",[],[10831]],[2404,"Thickened superior cerebellar peduncle",["Thick cerebellar peduncles"],[11932]],[2406,"Limb dysmetria",["Uncoordinated limb movement"],[1310]],[2408,"Cerebral arteriovenous malformation",["Cerebral AV malformation"],[100026,100659]],[2410,"Aqueductal stenosis",["Aqueduct of Sylvius stenosis","Aqueduct stenosis","Narrowing of aqueduct of Sylvius"],[2118]],[2411,"Myokymia",[],[100022]],[2414,"Spina bifida",["Split spine"],[10301]],[2415,"Leukodystrophy",["Degeneration of white matter of brain"],[11400]],[2416,"Subependymal cysts",["Subependymal germinolytic cyst","Subependymal pseudocyst"],[2118,10576]],[2418,"Abnormal midbrain morphology",["Abnormal shape of midbrain","Abnormality of midbrain morphology","Abnormality of the mesencephalon","Abnormality of the midbrain"],[12443]],[2419,"Molar tooth sign on MRI",["Molar tooth sign","Molar tooth sign on brain imaging","Molar tooth sign on imaging"],[2418]],[2421,"Poor head control",["Delay in head control","Delay in head righting","Infant head lag"],[1324]],[2423,"Long-tract sign",["Long tract signs","Long-tract signs"],[34482]],[2425,"Anarthria",["Loss of articulate speech"],[2167]],[2427,"Expressive aphasia",["Broca's aphasia","Loss of expressive speech","Motor aphasia","Non-fluent aphasia"],[2381]],[2435,"Meningocele",[],[10651,34238]],[2436,"Occipital meningocele",[],[2435]],[2439,"Frontolimbic dementia",[],[726]],[2442,"Dyscalculia",["Difficulty making arithmetical calculations","Acalculia"],[1328]],[2444,"Hypothalamic hamartoma",[],[9731,12286]],[2445,"Tetraplegia",["Paralysis of all four limbs","Quadriplegia"],[30182]],[2446,"Astrocytosis",["Increase in astrocyte number"],[100707]],[2448,"Progressive encephalopathy",["Progressive brain disease"],[1298]],[2450,"Abnormal motor neuron morphology",["Abnormal shape of motor neuron"],[12757]],[2451,"Limb dystonia",[],[1332]],[2453,"Abnormal globus pallidus morphology",[],[2134]],[2454,"Eye of the tiger anomaly of globus pallidus",[],[2453,12675]],[2457,"Abnormal head movements",[],[100022]],[2460,"Distal muscle weakness",["Distal limb muscle weakness","Distal limb weakness","Distal muscular weakness","Distal paresis","Muscle weakness, distal","Muscle weakness, distal limbs, due to neuronopathy","Weakness of distal muscles","Weakness of outermost muscles","Distal limb muscle weakness due to peripheral neuropathy"],[1324]],[2461,"Cerebellar dentate nucleus calcification",[],[7352,100321]],[2463,"Language impairment",["Language disorder"],[34434]],[2464,"Spastic dysarthria",["Rigid dysarthria"],[1257,1260]],[2465,"Poor speech",["Problems speaking","Difficulty speaking"],[2167]],[2470,"Nonprogressive cerebellar ataxia",[],[1251]],[2472,"Small cerebral cortex",["Decreased volume of cerebral cortex"],[2538]],[2474,"Expressive language delay",["Communication delay","Deficit in expressive language"],[750]],[2475,"Myelomeningocele",["Meningomyelocele","Spina bifida cystica"],[34237]],[2476,"Primitive reflex",["Archaic reflex","Primitive reflexes"],[31826]],[2478,"Progressive spastic quadriplegia",["Progressive spastic quadriparesis"],[2191]],[2480,"Hepatic encephalopathy",[],[1298]],[2483,"Bulbar signs",[],[12638]],[2486,"Myotonia",["Delayed relaxation of muscle fibers after contraction","Delayed relaxation of muscle fibres after contraction"],[11804]],[2487,"Hyperkinetic movements",["Hyperactive movements","Hyperkinesia","Hyperkinesis"],[100022]],[2488,"Acute leukemia",["Acute blood cancer","Acute leukaemia","Acute leukemias"],[1909]],[2490,"Increased CSF lactate",["Hyperlactatorachia","Increased CSF lactic acid","Increased cerebrospinal fluid lactate"],[30085]],[2491,"Spasticity of facial muscles",["Spasticity of the facial muscles","Increased stiffness of facial muscles","Increased tone of facial muscles"],[301,1257]],[2492,"Abnormal corticospinal tract morphology",["Morphological abnormality of the corticospinal tract","Abnormality of the corticospinal tract","Involvement of the corticospinal pathways"],[2062]],[2493,"Upper motor neuron dysfunction",["Corticospinal tract dysfunction","Pyramidal tract dysfunction"],[11442]],[2494,"Abnormal rapid eye movement sleep",["Abnormal REM sleep"],[2360]],[2495,"Impaired vibratory sensation",["Decreased vibration sense","Decreased vibratory sense","Diminished vibratory sense","Hypopallesthesia","Impaired vibratory sense"],[10831]],[2497,"Spastic ataxia",[],[1251]],[2500,"Abnormal cerebral white matter morphology",["Abnormality of subcortical white matter","Abnormality of the cerebral white matter","Cerebral white matter abnormalities","Leukoaraiosis","White matter abnormalities","White matter alterations","Cortical white matter abnormalities seen on MRI"],[10993]],[2501,"Spasticity of pharyngeal muscles",[],[1257]],[2503,"Spinocerebellar tract degeneration",["Degeneration of the spinocerebellar tracts","Spinocerebellar degeneration"],[3133]],[2504,"Calcification of the small brain vessels",[],[9145,31306]],[2505,"Loss of ambulation",["Loss of ability to walk"],[2540]],[2506,"Diffuse cerebral atrophy",["Cerebral atrophy, diffuse"],[2059]],[2507,"Semilobar holoprosencephaly",[],[1360]],[2508,"Brainstem dysplasia",["Brainstem hypoplasia/dysplasia","Malformation of brainstem structures"],[2363]],[2509,"Limb hypertonia",["Appendicular hypertonia","Increased muscle tone of arm or leg"],[1276,9127]],[2510,"Spastic tetraplegia",["Spastic quadriplegia"],[34353,100021]],[2511,"Alzheimer disease",["Late-onset form of familial Alzheimer disease"],[2011]],[2512,"Brain stem compression",[],[2363]],[2514,"Cerebral calcification",["Abnormal deposits of calcium in the brain"],[2060,430048]],[2515,"Waddling gait",["Waddling walk"],[1288]],[2516,"Increased intracranial pressure",["Intracranial hypertension","Intracranial pressure elevation","Rise in pressure inside skull","Pseudotumor cerebri"],[12640]],[2518,"Abnormal periventricular white matter morphology",["Abnormality of the periventricular white matter","Periventricular white matter abnormalities"],[2352,2500]],[2519,"Hypnagogic hallucination",["Hallucinations while falling asleep"],[4000063,5200296]],[2521,"Hypsarrhythmia",["Hypsarrhythmia by EEG"],[11198]],[2522,"Areflexia of lower limbs",["Absent lower limb tendon reflexes","Areflexia in lower limbs","Areflexia of the lower limbs","Areflexia, lower limbs"],[1284,2814]],[2524,"Cataplexy",["Narcolepsy"],[11442]],[2526,"Deficit in nonword repetition",[],[2167]],[2527,"Falls",[],[1288]],[2528,"Granulovacuolar degeneration",[],[2060,2180]],[2529,"Neuronal loss in central nervous system",["Loss of brain cells","Neuronal loss","Neuronal loss in CNS"],[7367]],[2530,"Axial dystonia",["Truncal dystonia"],[1332]],[2533,"Abnormal posturing",[],[100022]],[2536,"Abnormal cortical gyration",["Gyral disorganisation","Gyral disorganization","Abnormal gyration","Cerebral gyral anomalies"],[2269,2538]],[2538,"Abnormal cerebral cortex morphology",["Abnormality of the cerebral cortex"],[2060]],[2539,"Cortical dysplasia",["Neocortical dysplasia"],[2538]],[2540,"Inability to walk",["Non-ambulatory"],[1288]],[2542,"Olivopontocerebellar atrophy",["Olivopontocerebellar degeneration"],[1317]],[2544,"Retrocollis",[],[473]],[2545,"Patchy demyelination of subcortical white matter",[],[7305]],[2546,"Incomprehensible speech",[],[2167]],[2548,"Parkinsonism with favorable response to dopaminergic medication",["Parkinsonism with favourable response to dopaminergic medication","Favorable response to levodopa","Favourable response to levodopa"],[1300]],[2549,"Deficit in phonologic short-term memory",["Deficit in non-word repetition","Impaired non-word repetition"],[33687]],[2550,"Absent facial hair",[],[2298]],[2552,"Trichodysplasia",["Generalised trichodysplasia","Generalized trichodysplasia"],[1595]],[2553,"Highly arched eyebrow",["Arched eyebrows","Broad, arched eyebrows","High, rounded eyebrows","High-arched eyebrows","Thick, flared eyebrows","Bowed and upward slanting eyebrows","High arched eyebrows"],[534]],[2555,"Absent pubic hair",[],[2298,100133]],[2557,"Hypoplastic nipples",["Nipple hypoplasia","Small nipples"],[6709]],[2558,"Supernumerary nipple",["Accessory nipple","Increased nipple number","accessory mamilla","Accessory nipples","Supernumerary nipples","accessory mamillas"],[4404]],[2561,"Absent nipple",["Absent nipples","Athelia"],[6709]],[2562,"Low-set nipples",[],[4404]],[2563,"Constrictive pericarditis",[],[1701]],[2566,"Intestinal malrotation",["Malrotation","Gut malrotation"],[2242]],[2570,"Steatorrhea",["Fat in faeces","Fat in feces","Fatty stool","Greasy stools"],[2630]],[2571,"Achalasia",["Achalasia of the esophagus","Achalasia of the oesophagus"],[31857]],[2572,"Episodic vomiting",["Frequent vomiting"],[2013]],[2573,"Hematochezia",["Rectal bleeding","Recurrent rectal bleeding"],[2239,25085]],[2574,"Episodic abdominal pain",["Intermittent abdominal pain"],[2027,32148]],[2575,"Tracheoesophageal fistula",["Abnormal connection between trachea and esophagus","Abnormal connection between trachea and oesophagus"],[2031,2778]],[2576,"Intussusception",[],[2242]],[2577,"Abnormal stomach morphology",["Abnormality of the stomach"],[12718]],[2578,"Gastroparesis",["Delayed gastric emptying"],[11804,25032]],[2579,"Gastrointestinal dysmotility",["GI dysmotility"],[30895]],[2580,"Volvulus",[],[2242]],[2582,"Atrophic gastritis",["Chronic atrophic gastritis"],[5263]],[2583,"Colitis",[],[2037]],[2584,"Intestinal bleeding",["Intestinal haemorrhage","Intestinal hemorrhage"],[2239,2242]],[2585,"Abnormal peritoneum morphology",["Abnormality of the peritoneum"],[2012]],[2586,"Peritonitis",["Inflammation of the peritoneum"],[2585,45073]],[2587,"Projectile vomiting",[],[2013]],[2588,"Duodenal ulcer",[],[2246,34274]],[2589,"Gastrointestinal atresia",["GI atresia"],[12718]],[2590,"Paralytic ileus",[],[2595]],[2591,"Polyphagia",["Hyperphagia","Voracious appetite","Increased appetite"],[100738]],[2592,"Gastric ulcer",["Stomach ulcer"],[4295,4398]],[2593,"Intestinal lymphangiectasia",[],[2242,31842]],[2594,"Pancreatic hypoplasia",["Hypoplastic pancreas","Underdeveloped pancreas"],[100800]],[2595,"Ileus",["Gastrointestinal atony"],[2579,5214]],[2597,"Abnormality of the vasculature",["Abnormality of blood vessels","Vascular abnormalities"],[1626]],[2599,"Head titubation",[],[2346,2457,30187]],[2600,"Hyporeflexia of lower limbs",["Hyporeflexia in lower limbs","Hyporeflexia of the lower limbs","Hyporeflexia, lower limbs","Hyporeflexia/areflexia in lower limbs"],[1265,2814]],[2601,"Paresis of extensor muscles of the big toe",[],[1844,2460]],[2604,"Gastrointestinal telangiectasia",["GI telangiectasia","Small, enlarged blood vessels near skin"],[4296,100579]],[2605,"Hepatic necrosis",[],[410042]],[2607,"Bowel incontinence",["Anal incontinence","Faecal incontinence","Fecal incontinence","Loss of bowel control"],[12700,31064]],[2608,"Celiac disease",["Celiac sprue","Coeliac disease","Coeliac sprue"],[2244,100326]],[2611,"Cholestatic liver disease",[],[1396]],[2612,"Congenital hepatic fibrosis",["Congenital liver fibrosis","Excessive buildup of connective tissue and scarring of liver at birth"],[1395]],[2613,"Biliary cirrhosis",["Primary biliary cirrhosis"],[12440]],[2614,"Hepatic periportal necrosis",[],[2605]],[2615,"Hypotension",["Arterial hypotension","Low blood pressure"],[30972]],[2616,"Aortic root aneurysm",["Aortic root dilatation","Bulge in wall of root of large artery that carries blood away from heart","Enlarged aortic root","Increased aortic root diameter"],[12727]],[2617,"Vascular dilatation",["Aneurysmal dilatation","Wider than typical opening or gap","Aneurysm","Aneurysms","Aneurysmal disease"],[33353]],[2619,"Varicose veins",[],[5293]],[2621,"Atherosclerosis",["Plaque build-up in arteries","Atherosclerotic cardiovascular disease","Narrowing and hardening of arteries"],[2634]],[2623,"Overriding aorta",["Dextroposition of aorta","Overriding aortic valve"],[1679]],[2624,"Abnormal venous morphology",["Abnormal vein","Venous abnormality"],[33353]],[2625,"Deep venous thrombosis",["Blood clot in a deep vein","Deep vein thrombosis","Multiple deep venous thrombosis"],[4936]],[2626,"Venous varicosities of celiac and mesenteric vessels",["Venous varicosities of coeliac and mesenteric vessels"],[2619]],[2627,"Right aortic arch with mirror image branching",[],[12020]],[2629,"Gastrointestinal arteriovenous malformation",["GI arteriovenous malformation"],[4296,100026]],[2630,"Fat malabsorption",[],[2024]],[2632,"Low-to-normal blood pressure",["Low-to-normal BP"],[2615]],[2633,"Vasculitis",["Angiitis","Inflammation of blood vessel"],[33353]],[2634,"Arteriosclerosis",["Hardened artery wall"],[11004]],[2635,"Type IV atherosclerotic lesion",["Atheromatosis"],[31678]],[2636,"Dilatation of an abdominal artery",["Aneurysm of an abdominal artery"],[2617,11004]],[2637,"Cerebral ischemia",["Brain ischemia","Cerebrovascular ischemia","Disruption of blood oxygen supply to brain"],[33401]],[2638,"Superficial thrombophlebitis",[],[4418]],[2639,"Budd-Chiari syndrome",[],[30846]],[2640,"Hypertension associated with pheochromocytoma",[],[822]],[2641,"Peripheral thrombosis",["Peripheral blood clot"],[1977]],[2642,"Arteriovenous fistulas of celiac and mesenteric vessels",["Arteriovenous fistulas of coeliac and mesenteric vessels"],[2624,4947]],[2643,"Neonatal respiratory distress",["Infantile respiratory distress","Newborn respiratory distress","Respiratory distress, neonatal"],[2093]],[2644,"Abnormal pelvic girdle bone morphology",["Abnormal shape of pelvic girdle bone","Abnormality of pelvic girdle bone morphology","Abnormality of the pelvic girdle"],[11844]],[2645,"Wormian bones",["Extra bones within cranial sutures","Intra sutural bones","Intrasutural bones","Islands of bone within cranial sutures"],[11329]],[2647,"Aortic dissection",["Tear in inner wall of large artery that carries blood away from heart"],[1679]],[2650,"Scoliosis",["Cobb angle greater than ten degrees"],[10674]],[2651,"Spondyloepimetaphyseal dysplasia",[],[2652]],[2652,"Skeletal dysplasia",["Abnormal skeletal development"],[11842]],[2653,"Bone pain",[],[11843,12531]],[2654,"Multiple epiphyseal dysplasia",[],[2652]],[2655,"Spondyloepiphyseal dysplasia",[],[2652]],[2656,"Epiphyseal dysplasia",["Abnormal development of end part of bone","Abnormal development of the ends of long bones in arms and legs"],[2652,5930]],[2657,"Spondylometaphyseal dysplasia",[],[2652]],[2659,"Increased susceptibility to fractures",["Abnormal susceptibility to fractures","Bone fragility","Frequent broken bones","Increased bone fragility","Increased tendency to fractures"],[11843]],[2661,"Painless fractures due to injury",[],[2659,10832]],[2663,"Delayed epiphyseal ossification",["Delayed epiphyseal maturation","Delayed opacification of the epiphyses","Epiphyseal ossification delay","Delayed maturation of end part of long bone"],[5930,10656]],[2664,"Neoplasm",["Abnormal tissue mass","Neoplasia","Oncological abnormality","Tumor","Tumour","Cancer","Oncology"],[118]],[2665,"Lymphoma",["Cancer of lymphatic system"],[4377]],[2666,"Pheochromocytoma",["Chromaffin tumors","Chromaffin tumours"],[100634]],[2667,"Nephroblastoma",["Wilms tumor","Wilms tumour"],[11794]],[2668,"Paraganglioma",["Carotid body tumors","Carotid body tumours","Paragangliomas"],[100634]],[2669,"Osteosarcoma",["Bone cell cancer","Osteogenic sarcoma"],[10622,100242]],[2671,"Basal cell carcinoma",["Basal cell carcinomas","Basal cell epithelioma","Basal cell nevus","Basalioma"],[8069]],[2672,"Gastrointestinal carcinoma",["GI carcinoma"],[6749]],[2673,"Coxa valga",["Valgus hip","Coxa valga deformity"],[3367]],[2676,"Cloverleaf skull",["Cloverleaf cranium shape","Cloverleaf skull shape","Trilobar cranium shape","Trilobar skull shape","Kleeblattschaedel"],[2683]],[2677,"Small foramen magnum",["Foramen magnum stenosis","Little foramen magnum","Narrow foramen magnum","Hypoplasia of foramen magnum","Stenosis of foramen magnum"],[2699]],[2678,"Skull asymmetry",["Abnormality of skull shape","Unequal skull shape","Uneven skull shape","Asymmetry of skull","Malformation of skull shape"],[2683]],[2679,"Abnormal sella turcica morphology",["Abnormality of the sella turcica","Anomaly of the sella turcica","Abnormality of the hypophysial fossa","Abnormality of the pituitary fossa","Anomaly of the hypophysial fossa","Anomaly of the pituitary fossa"],[929]],[2680,"J-shaped sella turcica",["Hour glass shaped hypophysial fossa","Hour glass shaped pituitary fossa","Hour glass shaped sella turcica","J-shaped sella","Omega shaped sella turcica","J-shaped hypophysial fossa","J-shaped pituitary fossa","Omega shaped hypophysial fossa","Omega shaped pituitary fossa"],[2681]],[2681,"Deformed sella turcica",["Abnormal shape of hypophysial fossa","Abnormal shape of pituitary fossa","Abnormal shape of sella turcica","Deformity of hypophysial fossa","Deformity of pituitary fossa","Malformation of hypophysial fossa","Malformation of pituitary fossa","Malformation of sella turcica"],[2679]],[2682,"Broad skull",["Broad cranium","Increased width of cranium","Increased width of skull","Wide cranium","Wide skull"],[2683]],[2683,"Abnormal calvaria morphology",["Abnormality of cranium","Abnormality of calvarium","Abnormality of cranial vault","Abnormality of the calvaria","Abnormality of the shape of calvarium","Abnormality of the skull cap","Abnormality of the skullcap"],[929]],[2684,"Thickened calvaria",["Increased thickness of cranium","Calvarial thickening","Calvarium thickened","Increased calvarial thickness","Increased thickness of calvaria","Increased thickness of calvarium","Increased thickness of cranial vault","Increased thickness of skull cap","Thick calvaria","Thick calvarium","Thickened calvarium","Thickened cranial vault","Thickened cranium","Thickened skull cap","Thickening of the calvaria"],[2683]],[2686,"Pregnancy history",["Prenatal maternal abnormality","Maternal health problem"],[32443]],[2687,"Abnormality of frontal sinus",["Abnormality of sinus frontalis","Abnormality of the forehead sinus"],[245]],[2688,"Absent frontal sinuses",["Absence of frontal sinuses","Absent frontal sinus","Missing frontal sinus","Aplasia of frontal sinus","Aplasia sinus frontalis"],[9119]],[2689,"Absent paranasal sinuses",["Missing sinuses","Absence of paranasal sinuses","Missing paranasal sinuses","Aplasia of paranasal sinuses"],[5453]],[2690,"Large sella turcica",["Big sella turcica","Enlarged sella turcica","Hyperplasia of sella turcica","Prominent sella turcica","Hyperplasia of hypophysial fossa","Hyperplasia of pituitary fossa","Large hypophysial fossa","Large pituitary fossa"],[2679]],[2691,"Platybasia",["Flattening of the skull base","Increased basal angle of skull base","Obtuse basal angle of skull base"],[2683]],[2692,"Hypoplastic facial bones",["Hypoplasia of facial skeleton","Small facial bones","Small facial skeleton","Underdevelopment of facial bones","Underdevelopment of facial skeleton","Decreased size of facial bones","Decreased size of facial skeleton","Flattening of facial bones","Flattening of facial skeleton","Hypotrophic facial bones","Hypotrophic facial skeleton"],[34261]],[2693,"Abnormal skull base morphology",["Abnormality of cranial base","Abnormality of the skull base"],[929]],[2694,"Sclerosis of skull base",["Dense bone of skull base","Hyperossification of skull base","Hyperostosis of skull base","Marked sclerosis of skull base","Sclerosis of cranial base","Sclerosis of the skull base","Sclerotic skull base","HyperCalcification of skull base","HyperMineralization of skull base"],[2693,11001]],[2696,"Abnormal parietal bone morphology",["Abnormality of the parietal bone","Abnormality of the parietal bone of skull"],[2683]],[2697,"Parietal foramina",["Persistent foramina of the parietal bones","Symmetrical, oval defects in the parietal bone","Symmetrical, oval parietal bone defects","Holes in parietal bones","Openings in parietal bones"],[2696]],[2699,"Abnormal foramen magnum morphology",["Abnormality of the foramen magnum"],[929]],[2700,"Large foramen magnum",["Big foramen magnum","Dilation of foramen magnum","Enlarged foramen magnum","Wide foramen magnum","Increased circumference of foramen magnum","Increased diameter of foramen magnum"],[2699]],[2703,"Abnormality of skull ossification",["Abnormality of skull bone formation","Abnormality of ossification of calvarium","Abnormality of ossification of cranium","Abnormality of bone calcification of calvarium","Abnormality of bone calcification of cranium","Abnormality of bone calcification of skull","Abnormality of bone formation of calvarium","Abnormality of bone formation of cranium","Abnormality of bone mineralization of calvarium","Abnormality of bone mineralization of cranium","Abnormality of bone mineralization of skull"],[929]],[2705,"High, narrow palate",["Gothic palate","High narrow palate","High vaulted palate","Narrow and high arched palate","Narrow, high-arched palate","Narrow, high-arched roof of mouth","Narrow, highly arched palate","Narrow, highly arched roof of mouth"],[189,218]],[2707,"Palate telangiectasia",["Palatal angioectasia","Palatal telangiectasia","Palate telangiectases","Palate teleangiectases","Telangiectasia of the roof of the mouth","Palatal spider veins","Spider veins of the roof of the mouth"],[174,228]],[2708,"Prominent median palatal raphe",["Prominent central palatal ridge","Prominent central ridge on roof of the mouth","Prominent medial palatal suture"],[174]],[2710,"Commissural lip pit",["Commissural labial pits","Commissural pit","Lip pits at corners of the mouth","Pits at the corners of the lips"],[100267]],[2711,"Exaggerated median tongue furrow",["Deep central lingual furrow","Deep central lingual groove","Deep central tongue furrow","Deep central tongue groove","Deep median lingual furrow","Deep median lingual groove","Deep median tongue furrow","Deep median tongue groove","Exaggerated median lingual furrow"],[221]],[2714,"Downturned corners of mouth",["Downturned corners of the mouth","Downturned mouth","Downturned oral commisures","Drooping corners of mouth"],[11338]],[2715,"Abnormality of the immune system",["Immunological abnormality"],[118]],[2716,"Lymphadenopathy",["Lymph node hyperplasia","Swollen lymph nodes"],[2733]],[2717,"Adrenal overactivity",[],[11733]],[2718,"Recurrent bacterial infections",["Bacterial infections, recurrent","Frequent bacterial infections","Frequent pyogenic infections","Increased susceptibility to bacterial infections","Recurrent major bacterial infections","Recurrent pyogenic infections","Susceptibility to pyogenic infection","Prone to bacterial infection"],[2719]],[2719,"Recurrent infections",["Frequent infections","Frequent, severe infections","Increased frequency of infection","Predisposition to infections","Susceptibility to infection","infections, recurrent"],[32101]],[2720,"Decreased circulating IgA concentration",["Decreased IgA","Decreased circulating IgA level","Decreased immunoglobulin A","Gamma-A globulin deficiency","IgA deficiency","Low levels of immunoglobulin A","Reduced IgA levels"],[4313,410240]],[2721,"Immunodeficiency",["Decreased immune function","Immune deficiency"],[10978]],[2722,"Recurrent abscess formation",[],[2719]],[2723,"Absence of bactericidal oxidative respiratory burst in phagocytes",[],[10977]],[2724,"Recurrent Aspergillus infection",["Aspergillus infections, recurrent","Chronic aspergillosis","Persistent aspergillus infection","Recurrent Aspergillus infections","Recurrent aspergillosis"],[2841,5210099]],[2725,"Systemic lupus erythematosus",["SLE"],[2960]],[2726,"Recurrent Staphylococcus aureus infection",["Staphylococcus aureus infections, recurrent","Chronic staphylococcus aureus infection","Persistent staphylococcus aureus infection"],[7499,5210003]],[2728,"Recurrent mucocutaneous candidiasis",["Chronic candidiasis of mucosa, skin and nails","Chronic mucocutaneous candidiasis","Mucocutaneous candidiasis","Persistent mucocutaneous candidiasis"],[11370,5210236]],[2729,"Follicular hyperplasia",[],[2716]],[2730,"Chronic noninfectious lymphadenopathy",[],[2716]],[2731,"Decreased T cell apoptosis",["Defective lymphocyte apoptosis"],[30886]],[2732,"Lymph node hypoplasia",["Small lymph nodes"],[2733]],[2733,"Abnormal lymph node morphology",["Abnormal lymph node histology","Abnormality of the lymph nodes"],[100763]],[2737,"Thick skull base",["Increased thickness of bone of skull base","Increased thickness of skull base"],[2693]],[2738,"Hypoplastic frontal sinuses",["Decreased volume of frontal sinuses","Small frontal sinuses","Underdeveloped frontal sinuses","Decreased pneumatization of frontal sinus","Hypotrophic frontal sinus"],[9119]],[2740,"Recurrent Escherichia coli infection",["Chronic E. coli infection","E coli infections","E coli infections, recurrent","Persistent E. coli infection","Recurrent E. coli infection","Recurrent E. coli infections"],[5420,5210091]],[2741,"Recurrent Serratia infection",["Chronic Serratia infection","Persistent Serratia infection","Recurrent Serratia marcescens infections","Recurrent infection with Serratia species","Recurrent infection with Serratia spp"],[5420,5210046]],[2742,"Recurrent Klebsiella infection",["Chronic Klebsiella infection","Klebsiella infections, recurrent","Persistent Klebsiella infection","Recurrent Klebsiella infections","Recurrent infection with Klebsiella species","Recurrent infection with Klebsiella spp"],[5420,5210040]],[2743,"Recurrent enteroviral infections",[],[4429]],[2745,"Oral leukoplakia",["Oral idiopathic keratosis","Oral idiopathic leukoplakia","Oral idiopathic white patch","Oral leucoplakia","Oral leukokeratosis","Oral leukoplasia","Oral white patch","Oral white plaque","leukokeratosis"],[25125]],[2747,"Respiratory insufficiency due to muscle weakness",["Decreased lung function due to weak breathing muscles","Decreased respiratory function due to muscle weakness","Respiratory distress due to muscle weakness","Respiratory failure due to muscle weakness","Respiratory muscle weakness"],[2093,4347]],[2748,"Rickets",["Weak and soft bones"],[4349]],[2749,"Osteomalacia",["Softening of the bones"],[4349]],[2750,"Delayed skeletal maturation",["Delayed bone age","Delayed bone age before puberty","Delayed bone maturation","Delayed skeletal development","Retarded bone age","Skeletal maturation retardation","Retarded ossification"],[927]],[2751,"Kyphoscoliosis",[],[2650,2808]],[2752,"Sparse bone trabeculae",[],[100671]],[2753,"Thin bony cortex",["Thin cortices"],[3103]],[2754,"Osteomyelitis",["Bone infection"],[11843,12649]],[2756,"Pathologic fracture",["Spontaneous fracture","Pathologic fractures","Spontaneous fractures"],[2659]],[2757,"Recurrent fractures",["Frequent fractures","Increased fracture rate","Increased fractures","Multiple fractures","Multiple spontaneous fractures","Varying degree of multiple fractures"],[2659]],[2758,"Osteoarthritis",["Degenerative joint disease"],[1369]],[2761,"Generalized joint hypermobility",["Generalised joint laxity","Generalized joint laxity","Hypermobility of all joints","Joint laxity, generalised","Joint laxity, generalized"],[1382]],[2762,"Multiple exostoses",[],[100777]],[2763,"Abnormal cartilage morphology",["Abnormal shape of cartilage","Abnormality of cartilage morphology"],[11842]],[2764,"Stippled chondral calcification",[],[2832,100593]],[2766,"Relatively short spine",[],[8518]],[2777,"Tracheal stenosis",["Narrowing of windpipe"],[2778]],[2778,"Abnormal tracheal morphology",["Abnormal trachea morphology","Abnormality of the trachea","Tracheal disease"],[5607]],[2779,"Tracheomalacia",["Floppy windpipe"],[2778]],[2780,"Bronchomalacia",[],[25426]],[2781,"Upper airway obstruction",[],[6536]],[2783,"Recurrent lower respiratory tract infections",["Chronic lung infections","Lower respiratory tract infections","Recurrent chest infections"],[2205]],[2786,"Tracheobronchomalacia",[],[2779,2780]],[2787,"Tracheal calcification",["Calcification of the trachea","Tracheal calcifications","Tracheal ectopic calcification"],[2778,10766]],[2788,"Recurrent upper respiratory tract infections",["Frequent upper respiratory infections","Frequent upper respiratory tract infections","Recurrent URI","Recurrent colds","Recurrent upper respiratory and lower respiratory infections","Recurrent upper respiratory infection","Recurrent upper respiratory infections","Upper respiratory tract infections","Upper respiratory tract infections, recurrent"],[1739,2205]],[2789,"Tachypnea",["Increased respiratory rate or depth of breathing","Polypnea"],[2793]],[2790,"Neonatal breathing dysregulation",["Impaired breathing in newborn"],[5957]],[2791,"Hypoventilation",["Alveolar hypoventilation","Slow breathing","Under breathing","Respiratory depression"],[2793]],[2792,"Reduced vital capacity",["Decreased vital capacity"],[30878]],[2793,"Abnormal pattern of respiration",["Abnormal respiratory patterns","Unusual breathing patterns"],[2795]],[2795,"Abnormal respiratory system physiology",["Abnormal respiration","Functional respiratory abnormality","Impaired pulmonary function","Respiratory problem"],[2086]],[2797,"Osteolysis",["Breakdown of bone","Increased bone resorption","Osteolytic defects of bones"],[3330]],[2803,"Congenital contracture",["Congenital joint contractures","congenital contractures"],[1371]],[2804,"Arthrogryposis multiplex congenita",["Arthrogryposis","Arthrogryposis multiplex","Arthrogryposis, congenital","Multiple congenital contractures"],[2803]],[2805,"Accelerated bone age after puberty",[],[5616]],[2808,"Kyphosis",["Gibbus deformity","Hunched back","Hyperkyphosis","Round back"],[10674]],[2810,"Dumbbell-shaped metaphyses",["Dumbbell shaped metaphyses","Dumbbell shaped metaphysis","Dumbbell shaped wide portion of long bone"],[944]],[2812,"Coxa vara",[],[3367]],[2813,"Abnormal limb bone morphology",["Abnormal shape of limb bone","Abnormality of limb bone morphology","Arm and/or leg bone differences","Limb abnormality"],[11844,40068]],[2814,"Abnormality of the lower limb",["Abnormality of the leg","Lower limb deformities"],[40064]],[2815,"Abnormality of the knee",[],[100491]],[2816,"Genu recurvatum",["Back knee","Genu recurvata","Knee hyperextension"],[10500]],[2817,"Abnormality of the upper limb",["Abnormality of the arm"],[40064]],[2818,"Abnormal morphology of the radius",["Abnormality of the radius"],[40072]],[2821,"Neuropathic arthropathy",["Charcot arthropathy","Charcot joint"],[3040]],[2822,"Hyperplasia of the femoral trochanters",["Hyperplastic femoral trochanters"],[3366]],[2823,"Abnormal femur morphology",["Abnormality of femur morphology","Abnormality of the femora","Abnormality of the thighbone"],[40069]],[2825,"Caudal appendage",["Coccygeal tail","Human tail","Sacral appendage"],[8519]],[2826,"Halberd-shaped pelvis",["Halberd-shaped pelvis bone"],[40163]],[2827,"Hip dislocation",["Dislocated femoral heads","Dislocated hips","Dislocation of hip","Dislocation of the femoral head"],[1384,30311]],[2828,"Multiple joint contractures",[],[1371]],[2829,"Arthralgia",["Arthralgias","Joint pain","Arthritic pain","Joint pains"],[12531]],[2831,"Long coccyx",["Long tailbone"],[8519]],[2832,"Calcific stippling",["Discrete calcific stippling"],[10766]],[2833,"Cystic angiomatosis of bone",["Lytic cystic lesions in appendicular bones"],[12062]],[2834,"Flared femoral metaphysis",["Flared metaphysis of thigh bone"],[6489,30307]],[2835,"Aspiration",["Pulmonary aspiration"],[2795]],[2836,"Bladder exstrophy",["Ectopia vesicae"],[25487,100548]],[2837,"Recurrent bronchitis",["Bronchitis, recurrent"],[2783,12387,25426]],[2839,"Urinary bladder sphincter dysfunction",["Sphincter disturbance","Sphincter disturbances"],[9]],[2840,"Lymphadenitis",["Inflammation of the lymph nodes"],[2733,12649]],[2841,"Recurrent fungal infections",[],[2719,20100]],[2842,"Recurrent Burkholderia cepacia infection",["Chronic Burkholderia cepacia infection","Persistent Burkholderia cepacia infection","Recurrent Burkholderia cepacia infections"],[5420,5210079]],[2843,"Abnormal T cell morphology",["Abnormal T cells","Abnormality of T cells","Cellular immune defect","Defective cellular immunity"],[4332]],[2846,"Abnormal B cell morphology",["Abnormal B cells","Abnormality of B cells"],[4332]],[2847,"Impaired memory B cell generation",[],[5372]],[2848,"Decreased specific anti-polysaccharide antibody concentration",["Depressed antibody response to polysaccharide antigens","Low specific anti-polysaccharide antibody titer","Specific anti-polysaccharide antibody deficiency"],[12475]],[2849,"Absence of lymph node germinal center",["Absence of lymph node germinal centre","Lymph nodes lack germinal center","Lymph nodes lack germinal centre","Lymphoid germinal center defect","Lymphoid germinal centre defect"],[2733]],[2850,"Decreased circulating IgM concentration",["Decreased IgM","Decreased IgM level","IgM deficiency","Reduced IgM levels"],[4313,410243]],[2851,"Increased double-negative T cell number",["Elevated double-negative T cell proportion","Elevated proportion of CD4-negative, CD8-negative T cells","Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors"],[31399]],[2853,"Increased HLA-DR+ CD4+ T cell proportion",["Increased HLA DR+ CD4+ T cell proportion","Increased HLA DR+ T cell proportion","Increased proportion of HLA DR+ T cells"],[25840,5200033]],[2857,"Genu valgum",["Genu valga","Genu valgus","Genua valga","Knee joint valgus deformity","Knock knees"],[2979,34669]],[2858,"Meningioma",["Noncancerous growth of membranes covering brain"],[10651,100835]],[2859,"Rhabdomyosarcoma",[],[9728,30448]],[2860,"Squamous cell carcinoma",["Squamous cell cancer"],[8069]],[2861,"Melanoma",["Cancer of skin pigment cells","Skin cancer (melanoma)","Malignant melanoma"],[11792]],[2862,"Bladder carcinoma",[],[9725]],[2863,"Myelodysplasia",["Myelodysplastic syndrome","Hypoplastic myelodysplasia"],[4377]],[2864,"Paraganglioma of head and neck",["Paragangliomas, head and neck"],[2668]],[2865,"Medullary thyroid carcinoma",["Medullary thyroid cancer"],[2890]],[2866,"Hypoplastic iliac wing",["Hypoplastic iliac alae","Hypoplastic iliac wings","Small iliac wings"],[946,11867]],[2867,"Abnormal ilium morphology",["Abnormality of the ilium","Iliac abnormalities"],[3272]],[2868,"Narrow iliac wing",["Narrow iliac wings"],[11867]],[2869,"Flared iliac wing",["Flared iliac wings"],[11867]],[2870,"Obstructive sleep apnea",["Obstructive sleep apnoea"],[10535]],[2871,"Central apnea",["Central apnoea"],[2104]],[2872,"Apneic episodes precipitated by illness, fatigue, stress",["Episodic apnea induced by febrile illness or stress"],[2104]],[2875,"Exertional dyspnea",["Exertional breathlessness","Exertional dyspnoea","Shortness of breathing upon physical activity"],[2094]],[2876,"Episodic tachypnea",["Hyperpnea, episodic"],[2789]],[2877,"Nocturnal hypoventilation",["Hypoventilation during sleep","Nocturnal hypopnea","Nocturnal slow breathing","Nocturnal under breathing"],[2791]],[2878,"Respiratory failure",[],[2093]],[2879,"Anisospondyly",[],[3312]],[2882,"Sudden episodic apnea",[],[2104]],[2883,"Hyperventilation",["Rapid breathing"],[2793]],[2884,"Hepatoblastoma",[],[2896,2898]],[2885,"Medulloblastoma",[],[100836]],[2886,"Vagal paraganglioma",["Glomus vagale tumor","Glomus vagale tumour","Vagal nerve tumors","Vagal nerve tumours","Glomus vagale paraganglioma"],[2864]],[2888,"Ependymoma",[],[9733]],[2890,"Thyroid carcinoma",[],[100031]],[2891,"Uterine leiomyosarcoma",[],[10784,100243]],[2893,"Pituitary adenoma",["Noncancerous tumor in pituitary gland","Noncancerous tumour in pituitary gland","Pituitary gland adenoma"],[11750]],[2894,"Neoplasm of the pancreas",["Cancer of the pancreas","Pancreatic cancer","Neoplasia of the pancreas","Pancreatic tumor","Pancreatic tumour","increased risk of pancreatic cancer"],[1732,34930]],[2895,"Papillary thyroid carcinoma",["Papillary carcinoma of thyroid","Thyroid papillary carcinoma"],[2890]],[2896,"Neoplasm of the liver",["Liver cancer","Liver tumor","Liver tumour"],[1392,7378]],[2897,"Parathyroid adenoma",["Parathyroid adenomas"],[100733]],[2898,"Embryonal neoplasm",["Embryonal neoplasia","Embryonal tumors","Embryonal tumours"],[11792]],[2900,"Hypokalemia",["Decreased potassium(1+) concentration","Decreased potassium(1+) level","Decreased potassium(1+) level in blood","Low blood potassium levels","Reduced potassium(1+) concentration","Reduced potassium(1+) level","Reduced potassium(1+) level in blood"],[11042]],[2901,"Hypocalcemia",["Decreased calcium(2+) concentration","Decreased calcium(2+) level","Decreased calcium(2+) level in blood","Hypocalcaemia","Low blood calcium levels","Reduced calcium(2+) concentration","Reduced calcium(2+) level","Reduced calcium(2+) level in blood"],[4363]],[2902,"Hyponatremia",["Decreased sodium(1+) concentration","Decreased sodium(1+) level","Decreased sodium(1+) level in blood","Low blood sodium levels","Reduced sodium(1+) concentration","Reduced sodium(1+) level","Reduced sodium(1+) level in blood"],[10931]],[2904,"Hyperbilirubinemia",["High blood bilirubin levels"],[33479]],[2905,"Hyperphosphatemia",["Elevated phosphate ion concentration","Elevated phosphate ion level","Elevated phosphate ion level in blood","High blood phosphate levels","Increased phosphate ion concentration","Increased phosphate ion level","Increased phosphate ion level in blood"],[100529]],[2907,"Microscopic hematuria",["Microhematuria","Occult hematuria","Small amount of blood in urine"],[790]],[2908,"Conjugated hyperbilirubinemia",["Direct hyperbilirubinemia"],[2904]],[2909,"Generalized aminoaciduria",["Generalised aminoaciduria","Generalised nonspecific aminoaciduria","Generalized nonspecific aminoaciduria"],[3355]],[2910,"Elevated circulating hepatic transaminase concentration",["Abnormal liver enzymes","Abnormal liver function","Abnormal liver function tests","Elevated circulating hepatic transaminase activity","Elevated liver enzymes","Elevated serum transaminases","Elevated transaminases","High liver enzymes","Increased liver enzymes","Increased liver function tests","Increased transaminases","Raised liver enzymes","Subclinical abnormal liver function tests","Elevated liver function tests"],[430135]],[2912,"Methylmalonic acidemia",["Elevated circulating methylmalonic acid concentration","Elevated methylmalonic acid concentration","Elevated methylmalonic acid level","Elevated methylmalonic acid level in blood","Increased methylmalonic acid concentration","Increased methylmalonic acid level","Increased methylmalonic acid level in blood"],[40145]],[2913,"Myoglobinuria",[],[33354]],[2914,"Hyperchloriduria",["Increased urinary chloride"],[12600]],[2916,"Abnormality of chromosome segregation",[],[11017]],[2917,"Hypomagnesemia",["Decreased magnesium(2+) concentration","Decreased magnesium(2+) level","Decreased magnesium(2+) level in blood","Low blood Mg levels","Low blood magnesium levels","Reduced magnesium(2+) concentration","Reduced magnesium(2+) level","Reduced magnesium(2+) level in blood"],[4921]],[2918,"Hypermagnesemia",["Elevated magnesium(2+) concentration","Elevated magnesium(2+) level","Elevated magnesium(2+) level in blood","High blood Mg levels","High blood magnesium levels","Increased magnesium(2+) concentration","Increased magnesium(2+) level","Increased magnesium(2+) level in blood"],[4921]],[2919,"Ketonuria",["Ketonaciduria","Ketone bodies in urine","Acetonuria","Ketoaciduria"],[33354]],[2920,"Decreased circulating ACTH concentration",[],[11043]],[2921,"Abnormal cerebrospinal fluid morphology",["Abnormal CSF findings","Abnormality of the CSF","Abnormality of the cerebrospinal fluid"],[2011]],[2922,"Increased CSF protein concentration",["Cerebrospinal fluid protein increased","Cerebrospinal fluid with increased protein","Elevated cerebrospinal fluid protein","Elevated csf protein","Hyperproteinorrhachia","Increased CSF protein","Increased protein in csf","Spinal fluid protein elevated"],[25456]],[2923,"Rheumatoid factor positive",[],[30057]],[2925,"Elevated circulating thyroid-stimulating hormone concentration",["Elevated thyroid stimulating hormone","Elevated thyroid stimulating hormone levels","High TSH","Increased serum thyroid-stimulating hormone","Increased thyroid-stimulating hormone","Increased thyroid-stimulating hormone level","Increased thyrotropin level","TSH excess","Thyroid-stimulating hormone excess"],[31097]],[2926,"Abnormality of thyroid physiology",["Abnormal thyroid function"],[820]],[2927,"Histidinuria",["Elevated histidine in urine","High urine histidine levels"],[33100]],[2928,"Decreased activity of the pyruvate dehydrogenase complex",["Decreased activity of the PDH complex","Pyruvate dehydrogenase complex deficiency"],[3287]],[2929,"Leydig cell insensitivity to gonadotropin",[],[8373]],[2930,"Impaired sensitivity to thyroid hormone",["Elevated serum levels of free thyroid hormone with nonsuppressed TSH","End-organ unresponsiveness to thyroid hormone","Resistance to thyroid hormone","Thyroid hormone receptor defect","Thyroid hormone resistance"],[2926]],[2932,"Aldehyde oxidase deficiency",[],[12379]],[2933,"Ventral hernia",[],[4299]],[2936,"Distal sensory impairment",["Decreased distal sensation","Decreased sensation in extremities","Distal sensation loss","Distal sensory impairment in lower limbs","Distal sensory impairment of the lower extremities","Distal sensory loss","Distal sensory loss, upper and lower limbs","Loss of distal sensation"],[3474]],[2937,"Hemivertebrae",["Hemi-vertebrae","Hemivertebra","Missing part of vertebrae"],[3312,3422]],[2938,"Lumbar hyperlordosis",["Exaggerated lumbar lordosis","Excessive inward curvature of lower spine","Increased lumbar lordosis","Lumbar lordosis","Prominent lumbar lordosis"],[3307]],[2942,"Thoracic kyphosis",["Accentuated thoracic kyphosis","Exaggerated thoracic kyphosis"],[2808,100711]],[2943,"Thoracic scoliosis",[],[2650,100711]],[2944,"Thoracolumbar scoliosis",["Scoliosis, thoracolumbar"],[2650]],[2945,"Intervertebral space narrowing",["Narrow intervertebral disc spaces","Narrow intervertebral disk spaces","Narrow intervertebral spaces"],[5108]],[2946,"Supernumerary vertebrae",[],[9144,30304]],[2947,"Cervical kyphosis",["Rounded neck"],[2808,5905]],[2948,"Vertebral fusion",["Congenital spinal fusion","Congenitally fused vertebrae","Fusion of vertebral bodies","Vertebral body fusion"],[3422,100240]],[2949,"Fused cervical vertebrae",["Cervical spine fusion","Cervical vertebral fusion","Fused neck","Fusion of cervical vertebrae"],[2948]],[2951,"Partial absence of cerebellar vermis",[],[6817]],[2953,"Vertebral compression fracture",["Compression fracture of a vertebral body","Fractures of vertebral bodies","Vertebral body compression","Vertebral collapse","Vertebral compression","Vertebral compression fractures","Vertebral compression or collapse"],[3468]],[2955,"Granulomatosis",[],[4311]],[2958,"Immune dysregulation",["Unregulated immune response"],[10978]],[2959,"Impaired Ig class switch recombination",["Impaired B-lymphocyte isotype switching"],[5372]],[2960,"Autoimmunity",["Autoimmune condition","Autoimmune disease","Autoimmune disorder"],[10978]],[2963,"Abnormal delayed hypersensitivity skin test",[],[11840]],[2965,"Cutaneous anergy",["Absence of delayed hypersensitivity skin test","Lack of delayed skin hypersensitivity reaction"],[2963]],[2967,"Cubitus valgus",["Outward turned elbows"],[20300]],[2970,"Genu varum",["Genu vara","Genua vara","Outward bow-leggedness","Outward bowing at knees"],[2979,34669]],[2971,"Absent microvilli on the surface of peripheral blood lymphocytes",[],[4332]],[2972,"Reduced delayed hypersensitivity",["Decreased reactivity to skin test antigens","Deficiency of delayed skin hypersensitivity","Impaired delayed hypersensitivity"],[2963]],[2973,"Abnormal forearm morphology",["Abnormality of the forearm"],[2817]],[2974,"Radioulnar synostosis",["Fused forearm bones"],[2818,40071,100238]],[2977,"Aplasia/Hypoplasia involving the central nervous system",["Absent/underdeveloped central nervous system tissue","Aplasia/Hypoplasia involving the CNS"],[2011]],[2979,"Bowing of the legs",["Bow legs","Bow-leggedness","Bowed legs","Bowed lower limbs"],[2981,6487]],[2980,"Femoral bowing",["Bowed femur","Bowed femura","Bowed femurs","Bowed thighbone"],[2823,2979]],[2981,"Abnormality of the calf",[],[2814]],[2982,"Tibial bowing",["Bowed shankbone","Bowed shinbone","Bowed tibia","Bowing of the tibia"],[2979,2992]],[2983,"Micromelia",["Smaller or shorter than typical limbs"],[9826]],[2984,"Hypoplasia of the radius",["Hypoplastic radii","Hypoplastic radius","Radial hypoplasia","Short radii","Short radius","Shortening of radius","Underdeveloped outer large forearm bone","Radial ray hypoplasia"],[6501,9821]],[2986,"Radial bowing",["Bowed radii","Bowed radius","Bowing of outer large bone of the forearm","Bowing of radius bone of the forearm"],[3956,45008]],[2987,"Elbow flexion contracture",["Elbow flexion contractures","Elbow flexion deformity","Fixed flexion at the elbow joint"],[2996,34391]],[2990,"Fibular aplasia",["Absent calf bone","Absent fibulae","Absent-hypoplastic fibulae"],[6492]],[2991,"Abnormal fibula morphology",["Abnormality of fibula morphology","Abnormality of the calf bone"],[2981,40069]],[2992,"Abnormal tibia morphology",["Abnormality of the shankbone","Abnormality of the shinbone","Abnormality of tibia morphology"],[2981,40069]],[2996,"Limited elbow movement",["Decreased elbow mobility","Limited elbow mobility","Restricted elbow motion"],[1376,20301]],[2999,"Patellar dislocation",["Dislocated kneecap","Dislocated patellae","Dislocation of patella"],[3045,30311]],[3001,"Glomus jugular tumor",["Glomus jugular tumour","Glomus jugulare tumor","Glomus jugulare tumors","Glomus jugulare tumour","Glomus jugulare tumours"],[2864]],[3002,"Breast carcinoma",["Breast cancer"],[100013]],[3003,"Colon cancer",[],[100273]],[3005,"Ganglioneuroma",[],[30450]],[3006,"Neuroblastoma",["Cancer of early nerve cells"],[4376,30067]],[3009,"Enhanced neurotoxicity of vincristine",[],[759]],[3010,"Prolonged bleeding time",["Increased bleeding time"],[1892]],[3011,"Abnormality of the musculature",["Muscular abnormality"],[33127]],[3013,"Bulging epiphyses",["Bulging end part of bone"],[10580]],[3015,"Flared metaphysis",["Flared wide portion of long bone","Flared, widened metaphyses","Metaphyseal flaring","Metaphyseal flaring of long bones","Metaphyseal splaying","Metaphyses flared","Splayed metaphyses","marked metaphyseal flaring of long bones"],[3016]],[3016,"Metaphyseal widening",["Broad wide portion of long bone","Wide metaphyses","Widened long bone metaphyses","Widened metaphyses"],[944]],[3019,"Abnormality of the wrist",["Abnormalities of the wrists"],[9810]],[3020,"Enlargement of the wrists",[],[25798]],[3021,"Metaphyseal cupping",[],[944]],[3022,"Hypoplasia of the ulna",["Hypoplastic ulna","Short ulna","Short ulnae","Ulnar hypoplasia","Underdeveloped inner large forearm bone","Underdeveloped ulna"],[6495,9821]],[3023,"Bowing of limbs due to multiple fractures",["Bowed limbs due to multiple fractures"],[2659]],[3025,"Metaphyseal irregularity",["Frayed, irregular metaphyses","Frayed, irregular, metaphyses","Irregular metaphyses","Irregular wide portion of a long bone","Metaphyseal fraying","Metaphyseal irregularities"],[944]],[3026,"Short long bone",["Long bone shortening","Short tubular bones","shortened long tubular bones"],[11314]],[3027,"Mesomelia",["Disproportionately short middle portion of limb","Mesomelic limb shortening","Mesomelic shortening of limbs","Symmetric mesomelic limb shortness"],[9826]],[3028,"Abnormality of the ankle",["Abnormality of the ankles"],[100491]],[3029,"Enlargement of the ankles",[],[34673]],[3031,"Ulnar bowing",["Bowed ulna","Curved ulna","Curving of inner forearm bone"],[3956,40071]],[3034,"Diaphyseal sclerosis",["Craniodiaphyseal osteosclerosis","Diaphyseal osteosclerosis","Increased bone density in shaft of long bone"],[940,6392]],[3037,"Enlarged joints",["Prominent joints"],[1367]],[3038,"Fibular hypoplasia",["Hypoplastic fibula","Short calf bone","Short fibula","Short fibulae"],[3026,6492]],[3040,"Arthropathy",["Disease of the joints"],[1367]],[3041,"Humeroradial synostosis",["Fusion of upper and lower arm bones","Humeral radial synostosis","Humeral-radial synostosis","Radiohumeral synostosis of elbow","Synostosis of radius and humerus"],[2818,3938,31095,100744]],[3042,"Elbow dislocation",["Dislocations of the elbows","Elbow dislocations","Radiocapitellar dislocation","Radiohumeral dislocation","Ulnohumeral dislocation"],[30310,6001426]],[3043,"Abnormal shoulder morphology",["Abnormality of the shoulder"],[765,11844]],[3044,"Shoulder flexion contracture",[],[34665]],[3045,"Abnormal patella morphology",["Abnormal kneecap","Abnormality of the patella","Patellar abnormality"],[34669]],[3048,"Radial head subluxation",["Radial subluxation","Radial-head subluxation"],[32153]],[3049,"Ulnar deviation of the wrist",["Ulnar deviation of wrists"],[25798]],[3051,"Enlarged metaphyses",["Enlarged wide portion of a long bone"],[944]],[3053,"Epiphyseal deformities of tubular bones",[],[5930]],[3057,"Tetraamelia",["Tetra-amelia"],[9827]],[3059,"Abnormality of the radioulnar joints",[],[2973]],[3065,"Patellar hypoplasia",["Hypoplastic patellae","Small kneecap","Small patella","Small patellae","Underdeveloped kneecap"],[6498]],[3066,"Limited knee extension",["Limited knee straightening"],[10501]],[3067,"Madelung deformity",["Madelung wrist deformity"],[25798]],[3068,"Madelung-like forearm deformities",[],[2818]],[3070,"Elbow ankylosis",[],[20300,31013]],[3071,"Flattened epiphysis",["Flat end part of bone","Flat epiphyses"],[5930]],[3072,"Hypercalcemia",["Elevated calcium(2+) concentration","Elevated calcium(2+) level","Elevated calcium(2+) level in blood","High blood calcium levels","Hypercalcaemia","Increased calcium in blood","Increased calcium(2+) concentration","Increased calcium(2+) level","Increased calcium(2+) level in blood"],[4363]],[3073,"Hypoalbuminemia",["Low albumin","Decreased albumin concentration","Decreased albumin level","Decreased albumin level in blood","Decreased circulating abumin concentration","Hypoalbuminaemia","Low blood albumin","Reduced albumin concentration","Reduced albumin level","Reduced albumin level in blood"],[12116]],[3074,"Hyperglycemia",["High blood glucose","High blood sugar"],[11015]],[3075,"Hypoproteinemia",["Decreased protein levels in blood"],[10876]],[3076,"Glycosuria",["Glucose in urine","Glucosuria"],[6000531]],[3077,"Hyperlipidemia",["Elevated lipid concentration","Elevated lipid level","Elevated lipid level in blood","Elevated lipids in blood","Increased lipid concentration","Increased lipid level","Increased lipid level in blood"],[3119]],[3079,"Defective DNA repair after ultraviolet radiation damage",[],[3254]],[3080,"Hydroxyprolinuria",["Elevated urinary hydroxyproline"],[33098]],[3081,"Increased urinary potassium",["Hyperkaliuresis","Increased urinary K"],[12598]],[3083,"Dislocated radial head",["Congenital radial head dislocation","Dislocated radius","Dislocation of radial head","Dislocation of the radial head","Radial dislocation","Radial head dislocation","Radial head dislocation/subluxation","Dislocated radial heads"],[3042,3995,100744]],[3084,"Recurrent long bone fractures",["Fractures of the long bones","Increased long bone fracture rate"],[2757,25736]],[3085,"Long fibula",["Disproportionately long fibula","Long calf bone"],[2991]],[3086,"Acromesomelia",[],[3027]],[3088,"Premature osteoarthritis",["Premature arthritis"],[2758]],[3089,"Hamstring contractures",[],[5750]],[3090,"Hypoplasia of the capital femoral epiphysis",["Small capital femoral epiphyses","Small femoral capital epiphyses","Small innermost thighbone end part","Small proximal femoral epiphyses","Underdevelopment of the innermost thighbone end part"],[5003]],[3091,"Trophic limb changes",[],[10834]],[3093,"Limited hip extension",["Restricted hip extension"],[8800]],[3095,"Septic arthritis",["Infected joint"],[1369]],[3097,"Short femur",["Femoral hypoplasia","Hypoplasia of the femora","Short femurs","Short thighbone"],[3026,5613]],[3099,"Fibular overgrowth",["Overgrowth of calf bone"],[2991]],[3100,"Slender long bone",["Gracile long bones","Long bones slender","Slender, gracile long tubular bones","Thin long bones","Thin, gracile long bones","Slender long bones","Thin gracile long bones"],[11314]],[3102,"Increased carrying angle",[],[20301]],[3103,"Abnormal cortical bone morphology",["Abnormal compact bone morphology","Abnormality of cortical bone"],[3330]],[3105,"Protuberances at ends of long bones",[],[11314]],[3106,"Subperiosteal bone resorption",["Subperiosteal erosions"],[2813]],[3107,"Abnormal circulating cholesterol concentration",["Abnormal cholesterol homeostasis","Abnormality of cholesterol metabolism"],[3119]],[3108,"Hyperglycinuria",["Glycinuria","High urine glycine levels"],[33099]],[3109,"Hyperphosphaturia",["High urine phosphate levels","Phosphaturia"],[12599]],[3110,"Abnormality of urine homeostasis",["Pee issues","Urine issues"],[1939,11277]],[3111,"Abnormal circulating electrolyte concentration",["Abnormal blood ion concentration","Abnormality of ion homeostasis","Electrolyte disorders","Electrolyte disturbance"],[1939]],[3112,"Abnormal circulating amino acid concentration",["Abnormal amino acid level","Abnormality of serum amino acid level","Abnormality of serum amino acid levels"],[4354,33405]],[3113,"Hypochloremia",["Decreased chloride concentration","Decreased chloride level","Decreased chloride level in blood","Low blood chloride levels","Reduced chloride concentration","Reduced chloride level","Reduced chloride level in blood"],[11422]],[3115,"Abnormal EKG",["Abnormal ECG","Abnormal electrocardiogram","EKG abnormality"],[30956]],[3117,"Abnormal circulating hormone concentration",["Abnormal circulating hormone level","Abnormality of circulating hormone level"],[818]],[3118,"Increased circulating cortisol level",["Cushing syndrome","Hypercortisolism","Increased cortisol production"],[2717,11731]],[3119,"Abnormal circulating lipid concentration",["Abnormal lipid level","Dyslipidaemia","Dyslipidemia"],[430071]],[3121,"Limb joint contracture",["Limb contractures"],[34392]],[3124,"Hypercholesterolemia",["High cholesterol","Elevated serum cholesterol","Elevated total cholesterol","Increased total cholesterol"],[3107]],[3125,"Reduced factor VIII activity",["Factor VIII deficiency"],[30976]],[3126,"Low-molecular-weight proteinuria",["Tubular proteinuria"],[93]],[3127,"Hypocalciuria",["Low urine calcium levels"],[11280]],[3128,"Lactic acidosis",["Hyperlacticacidemia","Increased lactate in body","Lactic acidemia","Lacticacidemia","Lacticacidosis"],[1941]],[3130,"Abnormal peripheral myelination",[],[759,12447]],[3131,"Cystinuria",["High urine cystine levels","Nitroprusside-cyanide urine test positive"],[33095]],[3133,"Abnormal spinocerebellar tract morphology",["Abnormality of the spinocerebellar tracts"],[2143]],[3134,"Abnormality of peripheral nerve conduction",["Sensory and motor nerve conduction abnormalities","Abnormal peripheral nerve transmission"],[30177]],[3137,"Prolinuria",["Proline high in urine"],[33100]],[3138,"Increased blood urea nitrogen",["Increased BUN"],[2157,31970]],[3139,"Panhypogammaglobulinemia",["Panhypogammaglobulinaemia","Panypogammaglobulinemia"],[4313]],[3140,"T-wave inversion in the right precordial leads",[],[10872]],[3141,"Elevated circulating LDL-C concentration",["Elevated low-density lipoprotein cholesterol concentration","Elevated low-density lipoprotein cholesterol level","Elevated low-density lipoprotein cholesterol level in blood","Hyperbetalipoproteinemia","Increased LDL cholesterol","Increased LDLc concentration","Increased beta-lipoproteins","Increased circulating LDL level","Increased circulating low-density lipoprotein cholesterol","Increased circulating low-density lipoprotein levels","Increased low-density lipoprotein cholesterol concentration","Increased low-density lipoprotein cholesterol level","Increased low-density lipoprotein cholesterol level in blood","Increased plasma LDL levels"],[10980,31886]],[3142,"Excessive purine production",[],[12337]],[3144,"Increased serum serotonin",[],[3117]],[3145,"Decreased circulating adenosylcobalamin concentration",["Decreased ADOCBL"],[4341]],[3146,"Hypocholesterolemia",["Decreased circulating cholesterol level"],[3107]],[3148,"Elevated serum acid phosphatase",["Acid phosphatase elevated"],[4356]],[3149,"Hyperuricosuria",["High urine uric acid level","Increased urinary urate"],[12610]],[3150,"Glutaric aciduria",["Glutarate aciduria","Glutaricaciduria","Increased glutarate level in urine"],[3215]],[3153,"Cystathioninuria",["High urine cystathionine levels"],[33098]],[3154,"Increased circulating ACTH level",["High blood corticotropin levels","Increased plasma ACTH"],[11043]],[3155,"Elevated circulating alkaline phosphatase concentration",["Elevated ALP","Elevated alkaline phosphatase","Greatly elevated alkaline phosphatase","High serum alkaline phosphatase","Hyperphosphatasemia","Hyperphosphatasia","Increased alkaline phosphatase","Increased serum alkaline phosphatase"],[4379]],[3158,"Hyposthenuria",["Reduced urinary osmolality"],[33358]],[3159,"Hyperoxaluria",["High urine oxalate levels","Increased level of oxalate in urine"],[1992]],[3160,"Abnormal isoelectric focusing of serum transferrin",["Abnormal isoelectric focusing of transferrin","Abnormal transferrin isoelectric focusing"],[12347]],[3161,"4-Hydroxyphenylpyruvic aciduria",["Hydroxyphenylpyruvic aciduria"],[40156]],[3162,"Fasting hypoglycemia",["Low blood sugar when fasting"],[1943]],[3163,"Elevated urinary delta-aminolevulinic acid",[],[6000531]],[3164,"Gonadotropin-releasing hormone deficiency",["Hypothalamic GNRH deficiency","Hypothalamic gonadotropin-releasing hormone deficiency"],[12285,500012]],[3165,"Elevated circulating parathyroid hormone level",["Elevated circulating PTH level","Elevated serum parathyroid hormone","Elevated serum parathyroid hormone level","Elevated serum pth","Increased serum parathyroid hormone"],[100530]],[3166,"Increased urinary taurine",[],[33097]],[3167,"Carnosinuria",["High urine carnosine levels"],[33097]],[3168,"Dibasicaminoaciduria",[],[33100]],[3170,"Abnormal acetabulum morphology",["Abnormality of the acetabulum","Abnormality of the hipbone socket","Acetabular abnormality"],[1384]],[3172,"Abnormal pubic bone morphology",["Abnormality of the pubic bone","Abnormality of the pubic bones","Abnormality of the pubis"],[3272]],[3173,"Hypoplastic pubic bone",["Hypoplastic pubic bones","Hypoplastic pubis"],[9104]],[3174,"Abnormal ischium morphology",["Abnormality of the ischial bones","Abnormality of the ischium","Anomaly of the ischium"],[3272]],[3175,"Hypoplastic ischia",["Hypoplastic ischial bones","Hypoplastic ischii","Hypoplastic ischium"],[3174]],[3177,"Squared iliac bones",["Square iliac bones","Squaring of iliac bones"],[2867]],[3179,"Protrusio acetabuli",["Abnormally indented hip sockets","Acetabular protrusion","Protrusio acetabulae"],[3170]],[3180,"Flat acetabular roof",["Acetabular angle flat","Flat acetabular roofs","Flattened acetabular roof","Horizontal acetabulae","Horizontal acetabular roof","Horizontal acetabular roofs"],[3170]],[3182,"Shallow acetabular fossae",["Shallow acetabula","Shallow acetabulae","Shallow acetabular fossa","Shallow acetabulum"],[3170]],[3183,"Wide pubic symphysis",["Wide symphysis of pubis"],[3172]],[3184,"Decreased hip abduction",["Limited hip abduction"],[8800]],[3185,"Short greater sciatic notch",["Short sacroiliac notch","Shortened sacroiliac notches","Small sacroiliac notch"],[10456]],[3186,"Inverted nipples",["Invaginated nipples"],[4404]],[3187,"Breast hypoplasia",["Underdeveloped breasts"],[10311]],[3189,"Long nose",["Elongated nose","Increased height of nose","Increased length of nose","Increased nasal height","Increased nasal length","Nasal elongation"],[5105]],[3191,"Cleft ala nasi",["Ala nasi, cleft","Alar clefts","Cleft nasal alae","Cleft nostril","Notched nasal alae","Nostril coloboma"],[429]],[3193,"Allergic rhinitis",["Hay fever","Hayfever","Nasal allergies"],[12384,12393]],[3194,"Short nasal bridge",["Decreased length of bridge of nose","Decreased length of nasal bridge","Short bridge of nose"],[422]],[3196,"Short nose",["Decreased length of nose","Hypoplastic nose","Nasal hypoplasia","Shortened nose","Small nose"],[5105]],[3198,"Myopathy",["Muscle tissue disease","Myopathic changes"],[11805]],[3199,"Decreased muscle mass",[],[11805]],[3200,"Ragged-red muscle fibers",["Mitochondrial proliferation in muscle tissue","Ragged red muscle fibers","Ragged red muscle fibres","Ragged-red fibers","Ragged-red fibres","Ragged-red muscle fibres"],[4303]],[3201,"Rhabdomyolysis",["Breakdown of skeletal muscle"],[11805]],[3202,"Skeletal muscle atrophy",["Amyotrophy","Amyotrophy involving the extremities","Muscle atrophy","Muscle atrophy, neurogenic","Muscle degeneration","Muscle hypotrophy","Muscle wasting","Muscular atrophy","Neurogenic muscle atrophy","Neurogenic muscle atrophy, especially in the lower limbs","Neurogenic muscular atrophy"],[11805]],[3203,"Decreased neutrophil oxidative burst",["Decreased oxidative burst","Impaired oxidative burst","Negative NBT reduction test","Negative nitroblue tetrazolium reduction test","Reduced reactive oxygen species production in neutrophils"],[11990]],[3204,"Intracellular accumulation of autofluorescent lipopigment storage material",[],[11017]],[3205,"Curvilinear intracellular accumulation of autofluorescent lipopigment storage material",["Curvilinear profiles ultrastructurally","Curvilinear profiles ultrastructurally in cells","Intracellular curvilinear profiles on ultrastructural analysis"],[3204]],[3206,"Decreased activity of NADPH oxidase",[],[4358]],[3207,"Arterial calcification",[],[4934,11004]],[3208,"Fingerprint intracellular accumulation of autofluorescent lipopigment storage material",["Fingerprint profiles ultrastructurally","Fingerprint profiles ultrastructurally in cells"],[3204]],[3209,"Decreased pyruvate carboxylase activity",[],[816]],[3210,"Decreased methylmalonyl-CoA mutase activity",["Decreased methylmalonyl CoA mutase activity"],[816]],[3212,"Increased circulating IgE concentration",["Elevated immunoglobulin E","Elevated serum IgE","High immunoglobulin E","Increased circulating IgE level"],[10702,410241]],[3213,"Deficient excision of UV-induced pyrimidine dimers in DNA",[],[3254]],[3214,"Prolonged G2 phase of cell cycle",[],[11018]],[3215,"Elevated urinary dicarboxylic acid level",["Dicarboxylic aciduria"],[40156]],[3216,"Generalized amyloid deposition",["Generalised amyloid deposition"],[20015]],[3217,"Hyperglutaminemia",["Elevated glutamine concentration","Elevated glutamine level","Elevated glutamine level in blood","High plasma glutamine","Increased glutamine concentration","Increased glutamine level","Increased glutamine level in blood"],[10903]],[3218,"Oroticaciduria",["High urine orotic acid levels","Increased urinary orotic acid concentration","Orotic aciduria"],[31980]],[3219,"Ethylmalonic aciduria",[],[3215]],[3220,"Abnormality of chromosome stability",[],[11017]],[3221,"Chromosomal breakage induced by crosslinking agents",["Chromosomal breakage induced by diepoxybutane","Chromosomal breakage induced by mitomycin C"],[40012]],[3223,"Decreased circulating methylcobalamin concentration",["Decreased methylcobalamin","Methylcobalamin deficiency"],[3145]],[3224,"Increased cellular sensitivity to UV light",[],[11017]],[3225,"Reduced coagulation factor V activity",["Reduced factor V activity","Factor V deficiency"],[31899]],[3226,"Rectilinear intracellular accumulation of autofluorescent lipopigment storage material",["Rectilinear profiles ultrastructurally"],[3204]],[3228,"Hypernatremia",["Elevated sodium(1+) concentration","Elevated sodium(1+) level","Elevated sodium(1+) level in blood","High blood sodium levels","Increased sodium(1+) concentration","Increased sodium(1+) level","Increased sodium(1+) level in blood"],[10931]],[3231,"Hypertyrosinemia",["Elevated tyrosine concentration","Elevated tyrosine level","Elevated tyrosine level in blood","Increased tyrosine concentration","Increased tyrosine in blood","Increased tyrosine level","Increased tyrosine level in blood","Tyrosinemia"],[10917]],[3232,"Mitochondrial malic enzyme reduced",["Decreased mitochondrial malic enzyme"],[3287]],[3233,"Decreased circulating HDL-C concentration",["Decreased HDL cholesterol","Decreased circulating high-density lipoprotein cholesterol","Decreased circulating high-density lipoprotein levels","Decreased high-density lipoprotein cholesterol concentration","Decreased high-density lipoprotein cholesterol level","Decreased high-density lipoprotein cholesterol level in blood","Hypoalphalipoproteinemia","Low HDL-cholesterol","Reduced high-density lipoprotein cholesterol concentration","Reduced high-density lipoprotein cholesterol level","Reduced high-density lipoprotein cholesterol level in blood"],[10981,31888]],[3234,"Decreased circulating carnitine concentration",["Decreased carnitine concentration","Decreased carnitine level","Decreased carnitine level in blood","Decreased plasma carnitine","Reduced carnitine concentration","Reduced carnitine level","Reduced carnitine level in blood","Carnitine deficiency"],[3287,10967]],[3235,"Hypermethioninemia",["Increased methionine in blood","Methioninemia"],[10901]],[3236,"Elevated circulating creatine kinase activity",["Elevated blood creatine phosphokinase","Elevated circulating creatine phosphokinase","Elevated creatine kinase","Elevated creatine kinase concentration","Elevated creatine kinase level","Elevated creatine kinase level in blood","Elevated serum CPK","Elevated serum creatine kinase","Elevated serum creatine phosphokinase","High serum creatine kinase","Increased CPK","Increased creatine kinase","Increased creatine kinase concentration","Increased creatine kinase level","Increased creatine kinase level in blood","Increased creatine phosphokinase","Increased serum CK","Increased serum creatine kinase","Increased serum creatine phosphokinase"],[40081]],[3237,"Increased circulating IgG concentration",["Increased IgG level","Increased circulating IgG level","Increased levels of IgG","Increased total IgG in blood"],[10702,410242]],[3238,"Hyperpepsinogenemia I",[],[10876]],[3239,"Phosphoethanolaminuria",["High urine phosphoethanolamine levels","Increased level of O-phosphoethanolamine in urine","Increased urine O-phosphoethanolamine level"],[33354]],[3240,"Increased phosphoribosylpyrophosphate synthetase level",["Increased PRPS1 activity","Increased phosphoribosyl pyrophosphate synthetase activity"],[32459]],[3241,"External genital hypoplasia",["Hypogenitalism","Small genitalia","Underdevelopment of external reproductive organs"],[811]],[3244,"Penile hypospadias",[],[47]],[3246,"Prominent scrotal raphe",["Prominent perineal raphe"],[45]],[3247,"Overgrowth of external genitalia",[],[811]],[3248,"Gonadal tissue inappropriate for external genitalia or chromosomal sex",[],[62]],[3249,"Genital ulcers",[],[12243]],[3250,"Aplasia of the vagina",["Absent vagina","Congenital absence of the vagina"],[11026]],[3251,"Male infertility",[],[789,12041]],[3252,"Anteriorly displaced genitalia",[],[12243]],[3254,"Abnormality of DNA repair",[],[11017]],[3256,"Abnormality of the coagulation cascade",["Coagulopathy"],[1928]],[3258,"Glyoxalase deficiency",[],[12379]],[3259,"Elevated circulating creatinine concentration",["Elevated creatinine","Elevated serum creatinine","High blood creatinine level","Increased creatinine","Increased serum creatinine"],[2157,12100]],[3260,"Hydroxyprolinemia",["Elevated hydroxyproline concentration","Elevated hydroxyproline level","Elevated hydroxyproline level in blood","High blood hydroxyproline levels","Increased hydroxyproline concentration","Increased hydroxyproline level","Increased hydroxyproline level in blood"],[10907]],[3261,"Increased circulating IgA concentration",["Elevated IgA","Elevated serum IgA","IgA hypergammaglobulinemia","Increased circulating IgA level","Increased levels of IgA","Increased serum IgA"],[10702,410240]],[3262,"Anti-smooth muscle antibody positivity",["Smooth muscle antibody positive","Smooth muscle antibody positivity"],[30057]],[3264,"Deficiency of N-acetylglucosamine-1-phosphotransferase",[],[4356]],[3265,"Neonatal hyperbilirubinemia",["High blood bilirubin levels in neonate","Hyperbilirubinemia, neonatal"],[2904]],[3267,"Reduced orotidine 5-prime phosphate decarboxylase level",["Orotidine-5-prime-phosphate decarboxylase defect"],[12379]],[3268,"Argininuria",["High urine arginine levels"],[33093]],[3269,"Sudanophilic leukodystrophy",[],[2415]],[3270,"Abdominal distention",["Abdominal bloating","Abdominal distension","Abdominal swelling","Belly bloating","Bloating","Distended abdomen"],[11458]],[3271,"Visceromegaly",[],[1438]],[3272,"Abnormal hip bone morphology",["Abnormality of the hip bone","Abnormality of the hips"],[2644]],[3273,"Hip contracture",["Flexion contracture of hips","Flexion contractures of hips","Hip contractures","Hip flexion contractures"],[1384,5750]],[3274,"Hypoplastic acetabulae",["Acetabular hypoplasia","Hypoplastic acetabula"],[3170]],[3275,"Narrow pelvis bone",["Narrow pelvis"],[40163]],[3276,"Pelvic bone exostoses",["Pelvic exostoses"],[40163,100777]],[3277,"Constricted iliac wing",["Constricted iliac wings"],[11867]],[3278,"Square pelvis bone",["Square pelvis","Squared off pelvis"],[40163]],[3279,"Coxa magna",[],[3272]],[3281,"Increased circulating ferritin concentration",["Elevated serum ferritin","High ferritin level","Hyperferritinaemia","Hyperferritinemia","Increased ferritin","Increased plasma ferritin","Increased serum ferritin level"],[33331,40133]],[3282,"Decreased circulating alkaline phosphatase activity",["Decreased serum alkaline phosphatase","Low ALP","Low alkaline phosphatase"],[4379]],[3286,"Cystathioninemia",["Elevated cystathionine concentration","Elevated cystathionine level","Elevated cystathionine level in blood","High blood cystathionine levels","Increased cystathionine concentration","Increased cystathionine level","Increased cystathionine level in blood"],[33108]],[3287,"Abnormality of mitochondrial metabolism",["Mitochondrial dysfunction"],[12103]],[3288,"Mitochondrial propionyl-CoA carboxylase defect",["Mitochondrial PCC defect"],[3287]],[3292,"Decreased serum leptin",["Reduced circulating leptin level"],[4361]],[3296,"Hyperthreoninuria",["High urine threonine levels"],[33096]],[3297,"Hyperlysinuria",["High urine lysine levels","Lysinuria"],[33096]],[3298,"Spina bifida occulta",["Hidden spina bifida"],[2414]],[3300,"Ovoid vertebral bodies",["Oval vertebral bodies","Ovoid vertebrae","Ovoid-shaped vertebral bodies","Bullet vertebral body"],[3312]],[3301,"Irregular vertebral endplates",["Irregular end plates","Irregular endplates","end-plate irregularities","endplate irregularities","endplate irregularity","irregular vertebral plates","vertebral endplate irregularity"],[5106]],[3302,"Spondylolisthesis",["Displacement of one backbone compared to another","Slipped backbone","Spondylolithesis"],[925]],[3304,"Spondylolysis",[],[925]],[3305,"Block vertebrae",[],[2948]],[3306,"Spinal rigidity",["Reduced spine movement","Rigid spine"],[925]],[3307,"Hyperlordosis",["Lordosis","Prominent swayback"],[10674]],[3308,"Cervical subluxation",[],[3319,32153]],[3309,"Ovoid thoracolumbar vertebrae",["Ovoid thoracic and lumbar vertebrae"],[3300]],[3310,"Abnormal odontoid process morphology",["Abnormal odontoid peg","Abnormal odontoid process","Abnormality of the odontoid process"],[925]],[3311,"Hypoplasia of the odontoid process",["Hypoplastic odontoid process","Odontoid hypoplasia","Small odontoid peg","Small odontoid process"],[3310,8518]],[3312,"Abnormal vertebral body morphology",["Abnormal form of the vertebral bodies","Abnormal vertebral bodies","Abnormally shaped vertebrae"],[3468]],[3316,"Butterfly vertebrae",["Anterior rachischisis","Sagittal clefting of vertebrae"],[8428]],[3318,"Cervical spine hypermobility",["Cervical spine joint hypermobility"],[3319]],[3319,"Abnormality of the cervical spine",["Abnormal cervical spine","Abnormality of cervical vertebra","Abnormality of the cervical vertebrae","Cervical spine abnormalities","Cervical vertebral abnormalities","Disorder of cervical vertebra","Cervical vertebral anomalies"],[925]],[3320,"C1-C2 subluxation",[],[3308,8440]],[3321,"Biconcave flattened vertebrae",[],[926,4586]],[3323,"Progressive muscle weakness",["Muscle weakness, progressive","Progressive muscular weakness"],[1324]],[3324,"Generalized muscle weakness",["Generalised muscle weakness","Generalised weakness","Generalized weakness","Muscle weakness, diffuse","Muscle weakness, generalised","Muscle weakness, generalized"],[1324]],[3325,"Limb-girdle muscle weakness",["Limb girdle weakness","Muscle weakness, limb-girdle","Muscular weakness, limb-girdle"],[1324,9127]],[3326,"Myalgia",["Muscle ache","Muscle pain","Myalgias"],[12531]],[3327,"Axial muscle weakness",[],[1324]],[3328,"Abnormal hairshaft morphology",[],[1595]],[3329,"Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes",[],[3328]],[3330,"Abnormal bone structure",[],[11842]],[3332,"Absent primary metaphyseal spongiosa",[],[5089]],[3333,"Elevated circulating beta-hexosaminidase activity",["Elevated beta-hexosaminidase concentration","Elevated beta-hexosaminidase level","Elevated beta-hexosaminidase level in blood","Increased beta-hexosaminidase concentration","Increased beta-hexosaminidase level","Increased beta-hexosaminidase level in blood","Increased circulating beta-hexosaminidase activity"],[11021]],[3334,"Elevated circulating catecholamine level",[],[12099]],[3336,"Abnormal enchondral ossification",[],[11849]],[3337,"Reduced prothrombin consumption",["Poor prothrombin consumption"],[12200]],[3338,"Focal necrosis of right ventricular muscle cells",[],[1637]],[3339,"Pyrimidine-responsive megaloblastic anemia",["Anaemia corrected by uridylic acid and cytidylic acid","Anemia corrected by uridylic acid and cytidylic acid","Pyrimidine-responsive megaloblastic anaemia"],[1889]],[3341,"Lamina lucida cleavage",["Blistering with junctional split","Junctional split","Subepidermal blistering with cleavage in the lamina lucida"],[33804]],[3343,"Reduced glutathione synthetase level",["Glutathione synthetase deficiency"],[12379]],[3344,"3-Methylglutaric aciduria",["3-methylglutaricaciduria"],[31980]],[3345,"Elevated urinary norepinephrine level",[],[11976]],[3348,"Hyperalaninemia",["Increased blood alanine","Increased serum alanine"],[10916]],[3349,"Low cholesterol esterification rate",[],[12379]],[3351,"Decreased circulating renin concentration",["Decreased circulating renin level","Decreased plasma renin activity","Low plasma renin activity","Suppressed plasma renin activity"],[40084]],[3352,"Endopolyploidy on chromosome studies of bone marrow",[],[2916]],[3353,"Propionyl-CoA carboxylase deficiency",[],[12379]],[3354,"Hyperthreoninemia",["Elevated circulating threonine","Elevated threonine concentration","Elevated threonine level","Elevated threonine level in blood","High blood threonine levels","Increased threonine concentration","Increased threonine level","Increased threonine level in blood"],[10900]],[3355,"Aminoaciduria",["High urine amino acid levels","Hyperaminoaciduria","Increased levels of animo acids in urine","Abnormal urinary amino-acid findings"],[25745]],[3357,"Thymic hormone decreased",["Decreased thymic hormone"],[777]],[3358,"Elevated intracellular cystine",[],[11017]],[3359,"Decreased urinary sulfate",["Decreased urinary sulphate"],[12612]],[3361,"Tryptophanuria",["High urine tryptophan levels"],[33090]],[3362,"Elevated circulating VLDL-C concentration",["Elevated very-low-density lipoprotein cholesterol concentration","Elevated very-low-density lipoprotein cholesterol level","Elevated very-low-density lipoprotein cholesterol level in blood","Increased circulating very-low-density lipoprotein cholesterol","Increased circulating very-low-density lipoprotein levels","Increased plasma VLDL cholesterol","Increased very-low-density lipoprotein cholesterol concentration","Increased very-low-density lipoprotein cholesterol level","Increased very-low-density lipoprotein cholesterol level in blood"],[10980,31889]],[3363,"Abdominal situs inversus",["Situs inversus visceralis","Situs inversus viscerum"],[11620]],[3365,"Arthralgia of the hip",["Coxalgia","Hip arthralgia","Hip joint pain"],[3272]],[3366,"Abnormal femoral neck/head morphology",["Abnormal neck or head of thigh bone","Abnormality of the femoral neck or head region"],[2823]],[3367,"Abnormal femoral neck morphology",["Abnormal neck of thigh bone","Abnormality of the femoral neck"],[3366]],[3368,"Abnormal femoral head morphology",["Abnormal head of thigh bone","Abnormality of the femoral head"],[3366]],[3370,"Flat capital femoral epiphysis",["Flat capital femoral epiphyses","Flat end part of innermost thighbone","Flat femoral capital epiphyses","Flat proximal femoral epiphyses","Flattened proximal femoral epiphyses"],[10574,30289]],[3371,"Enlargement of the proximal femoral epiphysis",["Enlarged capital femoral epiphyses","Enlarged end part of innermost thighbone"],[10574,10580]],[3375,"Narrow greater sciatic notch",["Narrow greater sacrosciatic notches","Narrow sacroiliac notch","Narrow sacrosciatic notch","Narrow sciatic notches","Narrowed greater sciatic notch","Narrowed sacrosciatic notch","Small sacrosciatic notch","Small sacrosciatic notches"],[10456]],[3376,"Steppage gait",["High stepping"],[1288]],[3378,"Axonal degeneration/regeneration",["Axon degeneration and regeneration"],[764]],[3380,"Decreased number of peripheral myelinated nerve fibers",["Decreased number of large and small myelinated fibers","Decreased number of large and small myelinated fibres","Decreased number of peripheral myelinated nerve fibres","Loss of myelinated fibers","Loss of myelinated fibres"],[3130]],[3382,"Hypertrophic nerve changes",[],[759]],[3383,"Onion bulb formation",["Onion bulb formations"],[3130]],[3384,"Peripheral axonal atrophy",[],[764]],[3387,"Decreased number of large peripheral myelinated nerve fibers",["Decreased number of large peripheral myelinated nerve fibres","Depletion of large myelinated fibers","Depletion of large myelinated fibres","Loss of large myelinated fibers","Loss of large myelinated fibres","Loss of larger myelinated nerve fibers","Loss of larger myelinated nerve fibres"],[3380]],[3388,"Easy fatigability",["Tired easily"],[4302,12638]],[3390,"Sensory axonal neuropathy",["Axonal sensory neuropathy","Peripheral sensory axonal neuropathy"],[763,3477]],[3391,"Gowers sign",["Gower sign","Positive Gower sign","Positive Gowers sign"],[3701]],[3392,"First dorsal interossei muscle weakness",[],[2460]],[3393,"Thenar muscle atrophy",["Thenar atrophy"],[9130]],[3394,"Muscle spasm",["Muscle cramps","Muscle spasms","Nocturnal hand and foot cramps","Nocturnal leg cramp","Sleep-related dystonia"],[11804]],[3396,"Syringomyelia",["Fluid-filled cyst in spinal cord","Syrinx"],[100561]],[3397,"Generalized hypotonia due to defect at the neuromuscular junction",["Generalised hypotonia due to defect at the neuromuscular junction"],[1290,3398]],[3398,"Abnormal synaptic transmission at the neuromuscular junction",["Abnormality of neuromuscular transmission"],[30191]],[3400,"Basal lamina onion bulb formation",["Basal lamina 'onion bulb' formations on nerve biopsy"],[3383]],[3401,"Paresthesia",["Paresthesias","Pins and needles feeling","Tingling"],[33747]],[3402,"Decreased miniature endplate potentials",["Decreased MEPP","Small miniature endplate currents","Small miniature endplate potentials"],[3398]],[3403,"EMG: decremental response of compound muscle action potential to repetitive nerve stimulation",["EMG: decremental response of CMAP to repetitive nerve stimulation","EMG: decrement at repetitive stimulation"],[100285]],[3405,"Diffuse axonal swelling",[],[759]],[3406,"Peripheral nerve compression",[],[759]],[3409,"Distal sensory impairment of all modalities",["Distal sensory loss to all modalities"],[763]],[3411,"Proximal femoral metaphyseal irregularity",["Irregular proximal femoral metaphyses"],[3366,6431,30291]],[3413,"Atlantoaxial abnormality",[],[925]],[3414,"Atlantoaxial dislocation",["Atlanto-axial subluxation","Atlantoaxial subluxation"],[3413]],[3416,"Spinal canal stenosis",["Narrow spinal canal","Spinal stenosis"],[925]],[3417,"Coronal cleft vertebrae",["Coronal clefts","Coronal vertebral clefts","Vertebral coronal clefts","coronal cleft of vertebrae"],[8428]],[3418,"Back pain",[],[925,12531]],[3419,"Low back pain",["Lower back pain","Lumbago"],[3418]],[3422,"Vertebral segmentation defect",["Abnormal spinal segmentation"],[3468]],[3423,"Thoracolumbar kyphoscoliosis",["Dorsolumbar kyphosis"],[2751,2944,5619]],[3426,"First dorsal interossei muscle atrophy",[],[7181]],[3427,"Thenar muscle weakness",[],[30237]],[3429,"CNS hypomyelination",[],[11400]],[3431,"Decreased motor nerve conduction velocity",["Decreased motor NCV","Decreased motor nerve conduction velocities","Reduced motor nerve conduction velocity"],[762,40131]],[3434,"Sensory ataxic neuropathy",[],[763]],[3435,"Cold-induced hand cramps",[],[3449]],[3436,"Prolonged miniature endplate currents",["Prolonged MEPC","Prolonged MEPP","Prolonged miniature endplate potentials"],[3398]],[3438,"Absent Achilles reflex",["Absent ankle reflexes"],[200101]],[3440,"Horizontal sacrum",[],[5107]],[3443,"Decreased size of nerve terminals",[],[759]],[3444,"EMG: chronic denervation signs",[],[3445]],[3445,"EMG: neuropathic changes",["EMG: neurogenic abnormalities","EMG: neurogenic changes","EMG: neurogenic findings"],[3457]],[3447,"Axonal loss",[],[764]],[3448,"Decreased sensory nerve conduction velocity",["Decreased sensory NCV","Decreased sensory nerve conduction velocities"],[762,40132]],[3449,"Cold-induced muscle cramps",[],[3394]],[3450,"Axonal regeneration",["Regenerative activity on nerve biopsy"],[764]],[3451,"Increased rate of premature chromosome condensation",[],[11019]],[3452,"Elevated circulating iron concentration",["Elevated iron cation concentration","Elevated iron cation level","Elevated iron cation level in blood","Increased circulating iron concentration","Increased iron cation concentration","Increased iron cation level","Increased iron cation level in blood","Increased serum iron"],[40130]],[3453,"Antineutrophil antibody positivity",["Antineutrophil antibodies","Neutrophil antibody positive"],[30057]],[3454,"Platelet antibody positive",["Platelet antibody"],[30057]],[3455,"Elevated circulating long chain fatty acid concentration",["Elevated long chain fatty acids","Elevated serum long-chain fatty acids","Increased serum long-chain fatty acids"],[10964]],[3456,"Low urinary cyclic AMP response to PTH administration",[],[3110]],[3457,"EMG abnormality",["Abnormal EMG","Abnormal electromyography finding","EMG abnormalities","Electromyogram abnormal"],[11804]],[3458,"EMG: myopathic abnormalities",["EMG: myopathic changes","EMG: myopathy","Myopathic electromyogram"],[3198,3457]],[3459,"Polyclonal elevation of circulating IgM concentration",[],[3496]],[3460,"Chronic decreased circulating IgA concentration",["Decreased total IgA in blood","Total immunoglobulin A deficiency"],[2720]],[3461,"Increased urinary O-linked sialopeptides",[],[12067]],[3462,"Elevated 8-dehydrocholesterol",[],[3107]],[3463,"Increased extraneuronal autofluorescent lipopigment",["Lipopigment in extraneuronal cells"],[11813]],[3465,"Elevated 8(9)-cholestenol",[],[3107]],[3466,"Paradoxical increased cortisol secretion on dexamethasone suppression test",[],[11731]],[3467,"Atlantoaxial instability",[],[3413]],[3468,"Abnormal vertebral morphology",["Abnormal vertebrae","Abnormality of the vertebrae","Vertebral anomalies","Multiple vertebral anomalies"],[925]],[3469,"Peripheral dysmyelination",[],[3130]],[3470,"Paralysis",["Inability to move"],[11442]],[3472,"Hypocalcemic tetany",[],[12638]],[3473,"Fatigable weakness",["Fatigable weakness of limb muscles","Generalised muscle weakness due to defect at the neuromuscular junction","Generalized muscle weakness due to defect at the neuromuscular junction","Myasthenia","Myasthenic weakness","Proximal muscle weakness due to defect at the neuromuscular junction"],[1324,3398]],[3474,"Somatic sensory dysfunction",["Sensory impairment"],[12638]],[3477,"Peripheral axonal neuropathy",["Axonal neuropathy","Axonal peripheral neuropathy"],[764,9830]],[3481,"Segmental peripheral demyelination/remyelination",["Segmental demyelination/remyelination"],[11096]],[3482,"EMG: axonal abnormality",[],[3457]],[3484,"Upper limb muscle weakness",["Decreased arm strength","Weak arm"],[3690]],[3487,"Babinski sign",["Extensor plantar reflexes","Extensor plantar response","Extensor plantar responses","Positive Babinski sign"],[7256,31828]],[3489,"Acute episodes of neuropathic symptoms",[],[9830]],[3491,"Elevated urine pyrophosphate",[],[33354]],[3492,"High urinary gonadotropin level",[],[33354]],[3493,"Antinuclear antibody positivity",["Antinuclear antibodies","Antinuclear antibody positive","Elevated antinuclear antibody","Serum antinuclear antibody"],[30057]],[3495,"GM2-ganglioside accumulation",[],[4345]],[3496,"Increased circulating IgM concentration",["Increased IgM levels","Increased levels of IgM"],[10702,410243]],[3498,"Disproportionate short stature",["Short stature, disproportionate","Short stature, severe disproportionate"],[4322]],[3502,"Mild short stature",["short stature, mild","Relative short stature"],[3508]],[3508,"Proportionate short stature",["Proportionate small stature","Short stature, proportionate"],[4322]],[3510,"Severe short stature",["Dwarfism","Proportionate dwarfism","Short stature, extreme","Short stature, severe"],[3508]],[3513,"Reduced ratio of renal calcium clearance to creatinine clearance",["Reduced ration of kidney calcium clearance to creatinine clearance","Reduced ration of renal Ca clearance to creatinine clearance","Reduced ration of renal Ca2+ to creatinine clearance"],[11280]],[3514,"Deficiency or absence of cytochrome b(-245)",["Deficiency or absence of cytochrome b"],[3287]],[3517,"Birth length greater than 97th percentile",["Fetal overgrowth","Foetal overgrowth"],[98]],[3521,"Disproportionate short-trunk short stature",["Disproportionate short-trunked dwarfism","Disproportionate short-trunked short stature","Short-trunked dwarfism"],[3498,9121]],[3524,"Decreased methionine synthase activity",["Decreased activity of methionine synthase","Methionine synthase activity decreased","Methionine synthase deficiency","Reduced methionine synthase activity"],[12379]],[3526,"Orotic acid crystalluria",[],[20074]],[3527,"Hyperprostaglandinuria",["High urine prostaglandin levels"],[6000531]],[3528,"Elevated circulating calcitonin concentration",["Elevated calcitonin"],[34902]],[3529,"Parathormone-independent increased renal tubular calcium reabsorption",["Parathormone-independent increased renal tubular Ca reabsorption","Parathormone-independent increased renal tubular Ca2+ reabsorption"],[3110]],[3530,"Elevated circulating glutaric acid concentration",["Elevated glutaric acid concentration","Elevated glutaric acid level","Elevated glutaric acid level in blood","Glutarate acidemia","Glutaric acidemia","Increased glutaric acid concentration","Increased glutaric acid level","Increased glutaric acid level in blood"],[10995,32368]],[3532,"Ornithinuria",["Ornithine high in urine"],[33098]],[3533,"Reduced acetaldehyde dehydrogenase level",["Delayed oxidation of acetaldehyde"],[12379]],[3534,"Reduced xanthine dehydrogenase level",["Xanthine dehydrogenase deficiency"],[12379]],[3535,"3-Methylglutaconic aciduria",["3-Methylglutaconicaciduria"],[31980]],[3536,"Decreased fumarate hydratase activity",[],[816]],[3537,"Hypouricemia",["Decreased uric acid concentration","Decreased uric acid level","Decreased uric acid level in blood","Low blood uric acid levels","Reduced uric acid concentration","Reduced uric acid level","Reduced uric acid level in blood"],[2157,10932]],[3538,"Increased iduronate sulfatase level",["Increased serum iduronate sulfatase level","Increased serum iduronate sulfatase"],[34202]],[3540,"Impaired platelet aggregation",["Defective platelet aggregation","Deficient platelet aggregation","Platelet aggregation defect"],[30402]],[3541,"Urinary glycosaminoglycan excretion",[],[33354]],[3542,"Increased circulating pyruvate concentration",["Increased serum pyruvate","Increased serum pyruvic acid"],[10996]],[3546,"Exercise intolerance",["Decreased ability to exercise","Inability to exercise","Low exercise endurance","Poor exercise tolerance"],[25142]],[3547,"Shoulder girdle muscle weakness",["Muscle weakness, shoulder-girdle","Shoulder girdle weakness","Shoulder weakness","Weak shoulder muscles"],[1435,3325]],[3548,"Subsarcolemmal accumulations of abnormally shaped mitochondria",[],[3800]],[3549,"Abnormality of connective tissue",[],[33127]],[3550,"Predominantly lower limb lymphedema",[],[1004]],[3551,"Difficulty climbing stairs",["Difficulty walking up stairs"],[4302]],[3552,"Muscle stiffness",[],[11804]],[3554,"Type 2 muscle fiber atrophy",["Type 2 fiber atrophy","Type 2 fibre atrophy","Type 2 muscle fibre atrophy"],[100295]],[3555,"Muscle fiber splitting",["Fiber splitting","Fibre splitting"],[4303]],[3557,"Increased variability in muscle fiber diameter",["Increased fiber size variation","Increased fibre size variation","Increased variability in muscle fiber size","Increased variability in muscle fibre diameter","Increased variability in muscle fibre size","Increased variation in fiber size","Increased variation in fibre size","Increased variation in muscle fiber size","Increased variation in muscle fibre size","Variation in muscle fiber size","Variation in muscle fibre size"],[12084]],[3558,"Viral infection-induced rhabdomyolysis",[],[3201]],[3559,"Muscle hyperirritability",[],[11804]],[3560,"Muscular dystrophy",["Congenital muscular dystrophy","Muscle biopsy shows dystrophic changes"],[11805]],[3561,"Birth length less than 3rd percentile",["Birth length < 3rd percentile","Birth length <3rd percentile"],[4322]],[3562,"Abnormal metaphyseal vascular invasion",[],[944]],[3563,"Decreased circulating LDL-C concentration",["Decreased LDLc concentration","Decreased circulating low-density lipoprotein levels","Decreased low-density lipoprotein cholesterol concentration","Decreased low-density lipoprotein cholesterol level","Decreased low-density lipoprotein cholesterol level in blood","Hypobetalipoproteinemia","Reduced low-density lipoprotein cholesterol concentration","Reduced low-density lipoprotein cholesterol level","Reduced low-density lipoprotein cholesterol level in blood","Decreased LDL"],[10981,31886]],[3564,"Folate-dependent fragile site at Xq28",[],[40012]],[3565,"Elevated erythrocyte sedimentation rate",["Elevated ESR","Elevated sedimentation rate","High ESR","High erythrocyte sedimentation rate","Increased erythrocyte sedimentation rate","Raised erythrocyte sedimentation rate"],[25021,33331]],[3566,"Increased serum prostaglandin E2",["Elevated prostaglandin E2"],[11023]],[3568,"Decreased glucosephosphate isomerase level",["Decreased glucose phosphate isomerase activity","Glucosephosphate isomerase deficiency","Phosphohexose isomerase deficiency"],[12379]],[3570,"Molybdenum cofactor deficiency",[],[12379]],[3571,"Propionic acidemia",[],[32368]],[3572,"Decreased circulating citrulline concentration",["Decreased citrulline concentration","Decreased citrulline level","Decreased citrulline level in blood","Reduced citrulline concentration","Reduced citrulline level","Reduced citrulline level in blood"],[11965]],[3573,"Increased total bilirubin",["High bili total","Increased bilirubin"],[2904]],[3574,"Positive regitine blocking test",[],[2640]],[3575,"Increased intracellular sodium",["High intracellular Na","Increased intracellular Na+ levels"],[11017]],[3577,"Congenital onset",["Onset at birth","Symptoms present at birth"],[3674]],[3581,"Adult onset",["Onset in adulthood","Onset in early adulthood","Symptoms begin in adulthood"],[3674]],[3584,"Late onset",[],[3581]],[3587,"Insidious onset",["Gradual onset"],[11008]],[3593,"Infantile onset",["Onset in first year of life","Onset in infancy"],[410280]],[3596,"Middle age onset",[],[3581]],[3606,"Absent urinary urothione",[],[33354]],[3607,"4-hydroxyphenylacetic aciduria",["Elevated urine 4-hydroxyphenylacetic acid level"],[40156]],[3609,"Foam cells with lamellar inclusion bodies",[],[3651]],[3610,"Fibroblast metachromasia",[],[3653]],[3612,"Positive ferric chloride test",["Positive FeCl3 test"],[10893]],[3613,"Antiphospholipid antibody positivity",["Antiphospholipid antibodies","Antiphospholipid antibody","Phospholipid antibody positivity"],[30057]],[3614,"Trimethylaminuria",["High urine trimethylamine levels"],[33354]],[3616,"Premature separation of centromeric heterochromatin",[],[200024]],[3621,"Juvenile onset",["Signs and symptoms begin before 15 years of age"],[410280]],[3623,"Neonatal onset",["Onset in first weeks of life","Onset in neonatal period"],[3674]],[3634,"Amyoplasia",["Absent muscles since birth","Congenital absence of muscles"],[100854]],[3635,"Loss of subcutaneous adipose tissue in limbs",["Loss of fat tissue below the skin in limbs","Loss of subcutaneous adipose tissue from extremities"],[8887]],[3637,"Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity",["Reduced 4-Hydroxyphenylpyruvate dioxygenase level","Reducted HPPD activity"],[12379]],[3639,"Elevated urinary epinephrine level",["Increased urinary epinephrine"],[11976]],[3640,"CNS foam cells",[],[3651]],[3641,"Hemoglobinuria",["Haemoglobin in urine","Hemoglobin in urine"],[33354]],[3642,"Type I transferrin isoform profile",["Abnormal isoelectric focusing of serum transferrin, type I pattern","Isoelectric focusing of serum transferrin consistent with CDG type I","Type 1 transferrin isoform profile"],[3160]],[3643,"Sulfite oxidase deficiency",[],[12379]],[3645,"Prolonged partial thromboplastin time",["Abnormal partial thromboplastin time","Delayed thromboplastin generation","Partial thromboplastin time prolonged","Prolonged PTT","Prolonged activated partial thromboplastin time"],[1928]],[3646,"Bicarbonaturia",["Increased urine HCO3 concentration","Increased urine bicarbonate concentration"],[11279]],[3647,"Electron transfer flavoprotein-ubiquinone oxidoreductase defect",[],[3287]],[3648,"Lacticaciduria",["High urine lactic acid levels","Increased urine lactate"],[12072]],[3649,"Abnormal glycosidase enzyme activity",["Abnormality of glycoside metabolism"],[12379]],[3651,"Foam cells",["Foamy histiocytes","Foamy macrophages","Lipid-laden histiocytes","Presence of foam cells"],[2621]],[3652,"Recurrent myoglobinuria",["Myoglobinuria, episodic","Myoglobinuria, recurrent"],[2913]],[3653,"Cellular metachromasia",[],[11020]],[3654,"Reduced dihydropyrimidine dehydrogenase level",["Dihydropyrimidine dehydrogenase deficiency"],[12379]],[3655,"Reduced level of N-acetylglucosaminyltransferase II",["Deficient N-acetylglucosaminyltransferase II"],[12379]],[3656,"Decreased beta-glucocerebrosidase level",["Decreased lysosomal acid glucosylceramidase activity"],[12379]],[3657,"Vascular granular osmiophilic material deposition",["Granular osmiophilic deposits (GROD) in cells"],[25015]],[3658,"Hypomethioninemia",["Decreased plasma methionine","Decreased serum methionine"],[10901]],[3665,"Amyotrophy of the musculature of the pelvis",[],[8988]],[3674,"Onset",["Age of onset","Age symptoms begin"],[31797]],[3676,"Progressive",["Worsens with time","Progressive disorder"],[3679]],[3677,"Slowly progressive",["Signs and symptoms worsen slowly with time","Slow disease progression","Slow progression","Slowly progressive disorder"],[3676]],[3678,"Rapidly progressive",["Rapid progression","Worsening quickly","Rapidly progressive disorder"],[3676]],[3679,"Pace of progression",[],[31797]],[3680,"Nonprogressive",["Does not worsen","Non-progressive","Nonprogressive course","Nonprogressive disorder","Stationary"],[3679]],[3682,"Variable progression rate",[],[3676]],[3687,"Centrally nucleated skeletal muscle fibers",["Central nuclei","Centralised nuclei","Centralised sarcomeric nuclei","Centralized nuclei","Centralized sarcomeric nuclei","Centrally nucleated skeletal muscle fibres"],[4303]],[3688,"Cytochrome C oxidase-negative muscle fibers",["Cytochrome C oxidase-negative muscle fibres","Cytochrome c oxidase deficiency in skeletal muscle","Decreased activity of cytochrome C oxidase in muscle tissue","Decreased skeletal muscle cytochrome c oxidase activity"],[3800]],[3689,"Multiple mitochondrial DNA deletions",["Multiple mtDNA deletions"],[9141]],[3690,"Limb muscle weakness",["Limb weakness"],[1324,9127]],[3691,"Scapular winging",["Scapula alata","Winged scapulae","Winged scapulas","Winged shoulder blade","Scapular weakness"],[782,1435]],[3693,"Distal amyotrophy",["Amyotrophy of distal limb muscles","Distal amyotrophy, especially of the hands and feet","Distal limb muscle atrophy","Distal muscle atrophy","Distal muscle atrophy, upper and lower limbs","Distal muscle degeneration","Distal muscle wasting","Distal muscular atrophy","Muscle atrophy, distal"],[3202]],[3694,"Late-onset proximal muscle weakness",[],[3701]],[3696,"Absent epiphysis of the distal phalanx of the 5th finger",["Absent end part of the outermost bone of the little finger","Absent end part of the outermost bone of the pinkie finger","Absent end part of the outermost bone of the pinky finger"],[9198,9382,10246]],[3697,"Scapuloperoneal amyotrophy",["Scapuloperoneal atrophy"],[3202]],[3698,"Difficulty standing",["Difficulty in standing","Standing instability"],[4302]],[3700,"Generalized amyotrophy",["Diffuse amyotrophy","Diffuse muscle atrophy","Diffuse muscle wasting","Diffuse skeletal muscle wasting","Generalised amyotrophy","Generalised muscle atrophy","Generalised muscle degeneration","Generalized muscle atrophy","Generalized muscle degeneration","Muscle atrophy, diffuse","Muscle atrophy, generalised","Muscle atrophy, generalized","Muscular atrophy, generalised","Muscular atrophy, generalized"],[3202]],[3701,"Proximal muscle weakness",["Muscle weakness, proximal","Proximal limb muscle weakness","Proximal limb weakness","Weakness in muscles of upper arms and upper legs","Proximal neurogenic muscle weakness"],[1324]],[3704,"Scapuloperoneal weakness",["Neurogenic scapuloperoneal syndrome"],[1324]],[3707,"Calf muscle pseudohypertrophy",["Pseudohypertrophy of the calves"],[1430]],[3710,"Exercise-induced muscle cramps",["Exercise-induced muscle cramping","Muscle cramps following exercise","Muscle cramps on exercise","Muscle cramps on exertion","Muscle cramps with exertion"],[3394]],[3712,"Skeletal muscle hypertrophy",["Hypertrophic muscles","Increased skeletal muscle cells","Muscle hypertrophy","Muscular hypertrophy"],[30236]],[3713,"Muscle fiber necrosis",["Muscle fibre necrosis"],[4303]],[3715,"Myofibrillar myopathy",["Myofibrillar changes"],[3198]],[3716,"Generalized muscular appearance from birth",["Generalised muscular appearance from birth"],[11805]],[3717,"Minimal subcutaneous fat",["Minimal fat below the skin"],[3758]],[3719,"Muscle mounding",[],[10548]],[3720,"Generalized muscle hypertrophy",["Generalised increase in muscle cell size","Generalised muscle hypertrophy","Generalized increase in muscle cell size"],[3712]],[3722,"Neck flexor weakness",["Neck flexion weakness","Neck flexor muscle weakness"],[467]],[3724,"Shoulder girdle muscle atrophy",["Shoulder girdle atrophy","Shoulder girdle muscle wasting","Shoulder-girdle muscle atrophy"],[3797]],[3725,"Firm muscles",[],[11805]],[3729,"Enteroviral dermatomyositis syndrome",[],[2743]],[3730,"EMG: myotonic runs",["EMG: spontaneous, repetitive electrical activity"],[2486,3457]],[3731,"Quadriceps muscle weakness",["Quadriceps weakness"],[8994]],[3733,"Thigh hypertrophy",["Increased thigh size"],[8968]],[3736,"Autophagic vacuoles",[],[4303]],[3737,"Mitochondrial myopathy",[],[3800]],[3738,"Exercise-induced myalgia",["Exercise-induced muscle pain","Muscle pain on exercise","Muscle pain with exercise","Muscle pain, exercise-induced"],[3326]],[3739,"Myoclonic spasms",[],[1336]],[3740,"Myotonia with warm-up phenomenon",[],[2486]],[3743,"Genetic anticipation",["Autosomal dominant with genetic anticipation"],[34335]],[3744,"Genetic anticipation with paternal anticipation bias",["Paternal anticipation bias"],[3743]],[3745,"Sporadic",["Isolated cases","No previous family history"],[5]],[3749,"Pelvic girdle muscle weakness",["Hip girdle muscle weakness","Hip girdle weakness","Hip-girdle muscle weakness","Pelvic girdle weakness"],[3325]],[3750,"Increased muscle fatiguability",["Muscle fatigue"],[11804]],[3752,"Episodic flaccid weakness",[],[10547]],[3755,"Type 1 fibers relatively smaller than type 2 fibers",["Type 1 fibres relatively smaller than type 2 fibres"],[12084]],[3756,"Skeletal myopathy",[],[3198]],[3758,"Reduced subcutaneous adipose tissue",["Decreased subcutaneous adipose tissue","Decreased subcutaneous fat","Reduced fat tissue below the skin","Reduced subcutaneous fat","Scanty adipose tissue"],[1001,40063]],[3759,"Hypoplasia of lymphatic vessels",["Underdeveloped lymphatic vessels"],[100766]],[3760,"Percussion-induced rapid rolling muscle contractions",[],[10548]],[3761,"Calcinosis",["Calcium buildup in soft tissues of body"],[11805]],[3762,"Uterus didelphys",["Didelphic uteri","Didelphic uterus","Didelphyc uterus","Doubling of uterus","Duplex uterus","Duplicated uterus","Duplication of uterus","Uterine didelphis","Uterine didelphys","Uterus didelphis","Uterus didelphus","Uterus duplex","Double uterus"],[31105]],[3763,"Bruxism",["Teeth grinding","Grinding teeth during sleep"],[5200017,5200300]],[3764,"Nevus",["Mole","Naevus","Naevi","Nevi"],[11355]],[3765,"Psoriasiform dermatitis",["Psoriasis"],[11123]],[3768,"Periodic paralysis",["Episodic paralysis"],[3470]],[3771,"Pulp calcification",["Pulp calcifications","Pulp denticles","Pulp stones","Pulpoliths","False denticles","False pulp stones","True denticles","True pulp stones"],[6479]],[3774,"Stage 5 chronic kidney disease",["Chronic renal failure","End stage renal disease","End stage renal failure","End-stage renal disease","End-stage renal failure","Renal failure, endstage"],[12622]],[3777,"Pili torti",["Flattened and twisted hair"],[3328]],[3778,"Short mandibular rami",["Decreased size of mandibular ramus","Short body and ramus of mandible","Short mandibular ramus","Underdeveloped mandibular rami","Decreased height of mandibular ramus"],[347,3000003]],[3779,"Antegonial notching of mandible",["Deep antegonial notch of mandible","Large antegonial notch of mandible"],[10753]],[3781,"Excessive salivation",["Excessive production of saliva","Hypersalivation","Mouth watering","Oversalivation","Ptyalism","Watery mouth"],[100755]],[3782,"Eunuchoid habitus",[],[4325]],[3784,"Type 1 collagen overmodification",[],[11862]],[3785,"Decreased CSF homovanillic acid concentration",[],[34200]],[3787,"Type 1 and type 2 muscle fiber minicore regions",["Type 1 and type 2 muscle fibre minicore regions"],[3789]],[3789,"Minicore myopathy",[],[3198]],[3791,"Deposits immunoreactive to beta-amyloid protein",[],[4303]],[3795,"Short middle phalanx of toe",["Short middle bones (feet)","Short middle phalanges of toes"],[1831,10183]],[3796,"Irregular iliac crest",[],[2867]],[3797,"Limb-girdle muscle atrophy",["Limb-girdle myopathy","Wasting of limb-girdle muscle"],[3202,9127]],[3798,"Nemaline bodies",["Nemaline rods"],[100303]],[3799,"Marked delay in bone age",["Marked retardation in skeletal maturation","Markedly retarded bone age"],[2750]],[3800,"Muscle abnormality related to mitochondrial dysfunction",[],[11804]],[3803,"Type 1 muscle fiber predominance",["Type 1 muscle fibre predominance","Type I muscle fiber predominance","Type I muscle fibre predominance"],[33684]],[3805,"Rimmed vacuoles",["Rimmed vacuoles on biopsy"],[4303]],[3808,"Abnormal muscle tone",[],[11804]],[3809,"Reduced intrathoracic adipose tissue",[],[40063]],[3810,"Late-onset distal muscle weakness",[],[2460]],[3811,"Neonatal death",["Neonatal lethal"],[11420]],[3812,"Phenotypic variability",["Clinical heterogeneity","Highly variable clinical phenotype","Highly variable phenotype","Highly variable phenotype and severity","Highly variable phenotype, even within families","Variable phenotype","Variable phenotypic severity"],[12823]],[3819,"Death in childhood",[],[11420]],[3826,"Stillbirth",["Late fetal death","Late foetal death","Stillborn","Fetal death","Fetal demise","Foetal death","Foetal demise"],[34241]],[3828,"Variable expressivity",["Variable severity","Highly variable severity"],[3812]],[3829,"Typified by incomplete penetrance",["Incomplete penetrance","Reduced penetrance"],[34335]],[3831,"Typified by age-related disease onset",["Age dependent penetrance","Age-dependent penetrance","Typified by age-related penetrance"],[34335]],[3832,"Abnormality of the tibial plateaux",[],[2992]],[3833,"Laterally deficient tibial plateaux",[],[3832]],[3834,"Shoulder dislocation",[],[3043,30310]],[3835,"Shoulder subluxation",["Partial shoulder dislocation"],[32153]],[3836,"Stippled calcification of the shoulder",[],[3043]],[3837,"Soft-tissue ossification around the shoulders",["Calcification of the soft-tissue around the shoulders"],[11986]],[3839,"Abnormal upper limb epiphysis morphology",["Abnormal shape of end part of upper limb long bones","Abnormality involving the epiphyses of the upper limbs","Abnormality of upper limb epiphysis morphology","Epihyseal plate abnormality of the upper limbs"],[2817,6505]],[3840,"Delayed upper limb epiphyseal ossification",["Delayed maturation of the end part of the upper limb bone"],[2663,3839]],[3841,"Fragmented upper limb epiphysis",["Fragmented end part of upper limb bones","Fragmented epiphyses of the upper limbs"],[3839,100168]],[3842,"Irregular epiphyses of the upper limbs",["Irregular end part of upper limb bones"],[3839,10582]],[3843,"Round epiphyses of the upper limbs",["Round end part of upper limb bones"],[3839]],[3844,"Small epiphyses of the upper limbs",["Small end part of upper limb bones"],[3839,10585]],[3846,"Wide epiphyseal plates of the upper limbs",["Broad epiphyseal plates of the upper limbs","Broad growth plates of upper limbs"],[3839]],[3848,"Cupped metaphyses of the upper limbs",["Cupped wide portion of the upper limb bone"],[3021,9809]],[3849,"Flared upper limb metaphysis",["Flared metaphyses of the upper limbs","Flared wide portion of the upper limb bone"],[3015,3856]],[3850,"Upper-limb metaphyseal irregularity",["Irregular metaphyses of the upper limbs","Irregular wide portion of upper limb bones"],[3025,9809]],[3851,"Lytic defects in metaphyses of the upper limbs",[],[9809]],[3852,"Normal density transverse bands in metaphyses of the upper limbs",[],[9809]],[3853,"Sclerosis with transverse striations in metaphyses of the upper limbs",[],[3854]],[3854,"Sclerosis of metaphyses of the upper limbs",["Increased bone density in wide portion of the upper limb bones"],[9809]],[3855,"Spurred metaphyses of the upper limbs",["Spurred wide portion of upper limb bone"],[5054,9809]],[3856,"Upper limb metaphyseal widening",["Broad wide portion of upper limb bone","Wide/broad metaphyses of the upper limbs"],[3016,9809]],[3858,"Cortical diaphyseal irregularity of the upper limbs",[],[9808]],[3859,"Cortical diaphyseal thickening of the upper limbs",[],[9808]],[3860,"Diaphyseal sclerosis of the upper limbs",["Increased bone density in central part of long bone of upper limbs"],[3034,9808]],[3861,"Broad diaphyses of the upper limbs",["Broad shaft of long bone of the upper limbs","Wide diaphyses of the upper limbs","Wide shaft of long bone of the upper limbs"],[9808]],[3862,"Absent humerus",["Absent long bone in upper arm","Aplasia of the humerus","Aplastic humerus"],[6507]],[3863,"Angulated humerus",["Angulated long bone in upper arm"],[31095]],[3864,"Bifid humerus",["Notched long bone in upper arm"],[31095]],[3865,"Bowed humerus",["Bowed long bone in upper arm","Bowing of the humerus","Humeral bowing"],[6488,31095]],[3866,"Coarse humeral trabeculae",[],[31095]],[3867,"Humeral cortical irregularity",[],[5731,10629]],[3868,"Humeral cortical thickening",[],[935,10629]],[3869,"Humeral cortical thinning",[],[2753,10629]],[3870,"Crumpled humerus",["Crumpled long bone in upper arm"],[31095]],[3871,"Deformed humerus",["Deformed long bone in upper arm"],[31095]],[3872,"Humeral exostoses",[],[2762,31095]],[3874,"Humerus varus",[],[31095]],[3875,"Humeral lytic defects",["Lytic defects of the humerus"],[31095]],[3876,"Osteoporotic humerus",[],[31095]],[3877,"Oval transradiancy of humerus",["Humeral oval transradiancy"],[31095]],[3878,"Periosteal new bone of humerus",[],[30314,31095]],[3879,"Humeral pseudarthrosis",["False joint (long bone in upper arm)"],[31095]],[3880,"Sclerotic foci of the humerus",["Humeral sclerotic foci"],[3881]],[3881,"Humeral sclerosis",["Increased bone density in long bone of upper arm","Sclerosis of humerus"],[6392,31095]],[3882,"Slender humerus",["Slender long bone of upper arm"],[3100,31095]],[3883,"Tapered humerus",["Tapered long bone of upper arm"],[31095]],[3884,"Triangular humerus",["Triangular long bone of upper arm"],[31095]],[3885,"Undermodeled humerus",[],[31095]],[3886,"Wide humerus",["Broad humerus","Wide long bone of upper arm"],[5622,31095]],[3887,"Abnormal humeral head morphology",["Abnormal head of long bone in upper arm","Abnormality of the humeral heads"],[31095]],[3888,"Flattened humeral heads",["Flattended head of long bone in upper arm"],[3887]],[3889,"Abnormal deltoid tuberosity morphology",["Abnormality of the deltoid tuberosities"],[3926]],[3890,"Prominent deltoid tuberosities",[],[3889]],[3891,"Abnormal humeral epiphysis morphology",["Abnormality of end part of the long bone of the upper arm","Abnormality of the humeral epiphyses","Abnormality of the humeral epiphysis"],[3839,31095]],[3892,"Absent humeral epiphyseal ossification",["Absent maturation of end part of long bone in upper arm","Absent ossification of the humeral epiphyses"],[3891,12791]],[3893,"Advanced ossification of the humeral epiphysis",["Accelerated maturation of end part of long bone in upper arm","Advanced maturation of the humeral epiphyses"],[3891,10656]],[3894,"Delayed humeral epiphyseal ossification",["Delayed maturation/delayed ossification of the humeral epiphyses","Delayed maturation of the end part of the long bone in upper arm"],[3840,3891]],[3895,"Flattened humeral epiphyses",["Flattened end part of long bone in upper arm"],[3071,3891]],[3896,"Irregular humeral epiphyses",["Irregular end part of long bone in upper arm"],[3842,3891]],[3897,"Irregular ossification of the humeral epiphyses",["Irregular maturation of the end part of the long bone in upper arm"],[3891,10656,12791]],[3898,"Large humeral epiphyses",["Large end part of long bone in upper arm"],[3891,10580]],[3899,"Round humeral epiphyses",["Round end part of long bone in upper arm"],[3843,3891]],[3900,"Small humeral epiphyses",["Small end part of long bone in upper arm"],[3844,3891]],[3901,"Stippled calcification of the humeral epiphyses",[],[3891]],[3902,"Epiphyseal stippling of the humerus",["Stippled ossification of the humeral epiphyses"],[3897,10655]],[3903,"Broad humeral epiphyses",["Wide end part of long bone in upper arm","Wide humeral epiphyses"],[3891,3904]],[3904,"Wide epiphyses of the upper limbs",["Broad epiphyses of the upper limbs","Wide end part of upper limb bones"],[3839,10580]],[3905,"Abnormality of the humeral epiphyseal plate",["Abnormality of arm long bone growth plate"],[3891]],[3906,"Broad humeral epiphyseal plate",["Wide long bone of arm growth plate","Wide humeral epiphyseal plate"],[3846,3905]],[3907,"Abnormal humeral metaphysis morphology",["Abnormality of the humeral metaphyses","Abnormality of the wide portion of the long bone in upper arm"],[9809,31095]],[3908,"Corner fracture of metaphysis",["Bucket handle fracture","Metaphyseal corner fracture"],[944]],[3909,"Cortical subperiosteal resorption of humeral metaphyses",[],[3907]],[3910,"Enlarged humeral metaphyses",["Enlarged wide portion of long bone of upper arm","Expanded humeral metaphyses"],[3051,3907]],[3911,"Flared humeral metaphysis",["Flared wide portion of long bone of upper arm","Wide/broad humeral metaphysis","Flared humerus"],[3849,3907]],[3912,"Frayed humeral metaphyses",[],[3907]],[3913,"Humeral metaphyseal irregularity",["Irregular humeral metaphyses","Irregular wide portion of long bone in upper arm"],[3850,3907]],[3914,"Irregular ossification of humeral metaphyses",["Irregular bone maturation of the wide portion of the long bone in upper arm"],[3907,12791]],[3915,"Lytic defects of the humeral metaphysis",[],[3851,3907]],[3916,"Normal-density transverse humeral bands",[],[3852,3907]],[3917,"Pointed humeral metaphysis",["Pointed wide portion of long bone of upper arm"],[3907]],[3918,"Sclerotic humeral metaphysis",["Hardening of wide portion of long bone of upper arm","Stiffening of wide portion of long bone of upper arm"],[3907]],[3919,"Sclerotic humeral metaphysis with longitudinal striations",[],[3918]],[3920,"Sloping humeral metaphysis",["Sloping metaphysis of long bone of upper arm"],[3907]],[3921,"Laterally sloping humeral metaphysis",["Laterally sloping metaphysis of long bone of upper arm"],[3920]],[3922,"Spurred humeral metaphysis",["Spurred metaphysis of long bone of upper arm"],[3907]],[3923,"Square humeral metaphysis",["Square metaphysis of long bone of upper arm"],[3907]],[3924,"Stippled calcification of humeral metaphysis",["Speckled calcification in metaphysis of long bone of upper arm"],[3907]],[3926,"Abnormal humeral diaphysis morphology",["Abnormality of shaft of long bone in upper arm","Abnormality of the humeral diaphysis"],[9808,31095]],[3927,"Cortical irregularity of humeral diaphysis",[],[3858,3867,3926]],[3928,"Cortical thickening of humeral diaphysis",[],[3859,3926]],[3929,"Ground glass opacity of humeral diaphysis",[],[3926]],[3930,"Lytic defects of humeral diaphysis",["Humeral diaphyseal lysis"],[3926]],[3931,"Periosteal new bone of humeral diaphysis",[],[3926,30314]],[3932,"Sclerotic foci of humeral diaphysis",[],[3926]],[3933,"Sclerosis of humeral diaphysis",["Increased bone density in shaft of long bone in upper arm"],[3860,3926]],[3934,"Slender humeral diaphysis",["Slender shaft of long bone in upper arm"],[3926]],[3935,"Wide humeral diaphysis",["Broad humeral diaphysis","Broad shaft of long bone in upper arm","Wide shaft of long bone in upper arm"],[3861,3926]],[3938,"Synostosis involving the elbow",["Bone fusion involving the elbow"],[20300,100238]],[3939,"Humeroulnar synostosis",["Humeral ulnar synostosis"],[3938,100745]],[3940,"Osteoarthritis of the elbow",[],[2758,20300]],[3941,"Stippled calcification of the elbow",[],[20300]],[3942,"Synovial chondromatosis of the elbow",[],[20300]],[3943,"Abnormality of the joint spaces of the elbow",[],[20300]],[3944,"Narrow joint spaces of the elbow",[],[3943]],[3945,"Irregular articular surfaces of the elbow joints",[],[20300]],[3946,"Abnormal elbow epiphysis morphology",["Abnormality of end part of the elbow bone","Abnormality of the epiphyses of the elbow"],[3839,20300]],[3947,"Delayed elbow epiphyseal ossification",["Delayed maturation of the end part of the elbow bone"],[3840,3946]],[3948,"Irregular epiphyses of the elbow",["Irregular end part of the elbow bone"],[3842,3946]],[3949,"Abnormal elbow metaphysis morphology",["Abnormal wide portion of elbow bone"],[9809,20300]],[3950,"Flared elbow metaphyses",["Flared wide portion of elbow bone"],[3849,3949]],[3951,"Distal humeral metaphyseal irregularity",["Irregular metaphyses of elbow","Irregular wide portion of elbow bone"],[3913,3949]],[3952,"Sclerotic foci of metaphyses of the elbow",["Vertical linear mixed lucent and sclerotic pattern of metaphyses"],[3854,3949]],[3953,"Absent forearm bone",["Absent forearm bones","Aplasia involving forearm bones","Aplasia of the forearm bones"],[6503]],[3954,"Angulated forearm bones",[],[40072]],[3955,"Bone-in-a-bone appearance of forearm",[],[2973]],[3956,"Bowed forearm bones",[],[6488,40072]],[3957,"Cortical thickening of the forearm bones",[],[40072]],[3958,"Cross-fusion of the forearm bones",[],[40072]],[3959,"Deformed forearm bones",[],[40072]],[3960,"Exostoses of the forearm bones",[],[40072,100777]],[3961,"Fractured forearm bone",["Broken forearm","Fracture of the forearm","Fractured forearm bones"],[20110,40072]],[3963,"Lytic defects of the forearm bones",[],[40072]],[3964,"Osteoporotic forearm bones",[],[40072]],[3965,"Pseudarthrosis of the forearm bones",[],[40072]],[3966,"Sclerotic foci in forearm bones",[],[40072]],[3967,"Sclerotic forearm bones",["Increased bone density of forearm bones"],[40072]],[3969,"Slender forearm bones",[],[40072]],[3970,"Undermodelled forearm bones",[],[40072]],[3971,"Broad forearm bones",["Wide forearm bones"],[40072]],[3973,"Wide radioulnar joints",["Broad radioulnar joints"],[3037,3059]],[3974,"Absent radius",["Absent ossification/absence of radius","Aplasia of the radius","Missing outer large bone of forearm","Radial aplasia","absence of radius and ulna"],[3953,6501]],[3976,"Constricted radius",[],[2818,3330]],[3977,"Deformed radius",[],[2818,3959]],[3978,"Fractured radius",[],[2818,3961,25736]],[3979,"Lytic defects of the radius",[],[2818,3963]],[3980,"Pseudarthrosis of the radius",[],[2818,3965]],[3981,"Broad radius",["Wide radius"],[2818,3971,5622]],[3982,"Aplasia of the ulna",["Absent ossification/absent ulna","Absent ulna","Absent ulnae"],[3953,6495]],[3984,"Posteriorly dislocated ulna",[],[40071]],[3985,"Exostoses of the ulna",[],[3960,40071]],[3986,"Exostoses of the radius",[],[2818,3960]],[3987,"Fractured ulna",[],[3961,25736,40071]],[3988,"Long ulna",["Disproportionately long ulnae"],[40071]],[3989,"Notched ulna",[],[40071]],[3990,"Pointed ulna",[],[40071]],[3991,"Osteosclerosis of the ulna",["Sclerotic ulna"],[3967,6392,40071]],[3992,"Slender ulna",[],[3100,3969,40071]],[3993,"Broad ulna",["Wide ulna"],[3971,5622,40071]],[3994,"Dislocated wrist",["Dislocations of the wrists"],[25799,30310]],[3995,"Abnormality of the radial head",["Deformity of radial heads"],[2818]],[3996,"Flattened radial head",[],[3995]],[3997,"Hypoplastic radial head",["Small radial head"],[3995]],[3998,"Constricted radial neck",[],[3999]],[3999,"Abnormal radial epiphysis morphology",["Abnormality of radial epiphyseal plates","Abnormality of radial epiphyses"],[2818,3839]],[4000,"Cone-shaped distal radial epiphysis",["Chevron-shaped distal radial epiphysis"],[3999,10579]],[4001,"Medially deficient radial epiphyses",[],[3999]],[4002,"Flattened radial epiphyses",[],[3071,3999]],[4003,"Medially flattened radial epiphyses",[],[4002]],[4004,"Irregular radial epiphyses",[],[3999,10582]],[4005,"Large radial epiphyses",[],[3999,10580]],[4006,"Round radial epiphyses",[],[3999]],[4007,"Sclerotic radial epiphyses",[],[3999]],[4008,"Sloping radial epiphyses",[],[3999]],[4009,"Medially sloping radial epiphyses",[],[4008]],[4010,"Small radial epiphyses",[],[3999,10585]],[4012,"Premature fusion of the radial epiphyseal plates",[],[3999]],[4013,"Medially fused radial epiphyseal plates",[],[4012]],[4014,"Broad radial epiphyseal plate",["Wide radial epiphyseal plates"],[3999]],[4015,"Abnormal radial metaphysis morphology",["Abnormality of radial metaphyses"],[2818,9809]],[4016,"Cupped radial metaphyses",[],[3848,4015]],[4017,"Exostoses of the radial metaphysis",[],[3986,4015]],[4018,"Flared radial metaphysis",["Broadening of the distal radius"],[3849,4015]],[4019,"Radial metaphyseal irregularity",["Irregular radial metaphysis"],[3850,4015]],[4020,"Irregular ossification of the radial metaphysis",[],[3336,4015]],[4021,"Lytic defects of radial metaphysis",[],[3851,4015]],[4022,"Sclerotic radial metaphysis with longitudinal striations",[],[3854,4015]],[4023,"Sloping radial metaphysis",[],[4015]],[4024,"Medially sloping radial metaphysis",[],[4023]],[4025,"Spurred radial metaphysis",[],[4015]],[4026,"Broad radial metaphysis",["Wide radial metaphysis"],[3856,3981,4015]],[4027,"Abnormality of radial diaphysis",[],[2818,9808]],[4028,"Spurs of radial diaphysis",[],[4027]],[4029,"Lytic defects of radial diaphysis",[],[4027]],[4030,"Patchy sclerosis of radial diaphysis",[],[4027]],[4031,"Broad radial diaphysis",["Wide radial diaphysis"],[4027]],[4032,"Abnormal olecranon morphology",["Abnormality of the olecranon"],[40071]],[4033,"Curved olecranon",[],[4032]],[4034,"Irregular olecranon",[],[4032]],[4035,"Abnormal ulnar styloid process morphology",["Abnormality of the styloid process of ulna"],[4037]],[4036,"Long styloid process of ulna",[],[4035]],[4037,"Abnormal ulnar epiphysis morphology",["Abnormality of the epiphyseal plate of the ulna","Abnormality of the ulnar epiphyses"],[3839,40071]],[4039,"Abnormal ulnar metaphysis morphology",["Abnormality of ulnar metaphysis"],[9809,40071]],[4040,"Corner fragments of ulnar metaphysis",[],[4039]],[4041,"Cupped ulnar metaphysis",[],[4039]],[4042,"Ulnar metaphyseal irregularity",["Irregular ulnar metaphysis"],[3850,4039]],[4043,"Lytic defects of ulnar metaphysis",[],[4039,45039]],[4044,"Pointed ulnar metaphysis",[],[4039]],[4045,"Sloping ulnar metaphysis",[],[4039]],[4046,"Spurred ulnar metaphysis",[],[3855,4039]],[4047,"Wide ulnar metaphysis",["Broad ulnar metaphysis"],[3856,4039]],[4048,"Narrow joint spaces of wrist",[],[25798]],[4049,"Decreased carpal angles of wrist",[],[25798]],[4050,"Absent hand",["Acheiria"],[5927,6000918]],[4051,"Advanced ossification of the hand bones",["Accelerated maturation of hand bones","Advanced maturation of the hand bones"],[10660]],[4052,"Delayed ossification of the hand bones",["Delay maturation/delayed ossification of the hand","Delayed maturation of the hand bones"],[10660]],[4053,"Dysharmonic maturation of the hand bones",["Disharmonic maturation of the hand bones","Dysharmonic ossification of the hand bones"],[10660,200000]],[4054,"Sclerosis of hand bone",["Generalised sclerosis of hand bones","Generalized sclerosis of hand bones","Hand bone sclerosis","Increased bone density in hand bone","Increased bone density in hand bones"],[11001]],[4057,"Mitten deformity",["Pseudosyndactyly"],[5922]],[4058,"Hand monodactyly",[],[9380]],[4060,"Trident hand",["trident abnormality","trident deformity"],[1167]],[4095,"Curved fingers",[],[1167,5922]],[4097,"Deviation of finger",["Atypical position of finger","Deviated fingers","Finger pointing in a different direction than usual"],[1167,9484]],[4099,"Macrodactyly",["Finger overgrowth","Megalodactyly"],[11297]],[4100,"Abnormal 2nd finger morphology",["Abnormality of index finger","Abnormality of the 2nd finger"],[1167]],[4112,"Midline nasal groove",["Central nasal groove"],[4122]],[4122,"Midline defect of the nose",["Central defect of nose","Central nasal defect","Midline nasal defect","Central cleft of nose","Midline cleft of nose"],[5105]],[4132,"Dimple on nasal tip",["Dimpled tip of nose"],[436]],[4150,"Abnormal 3rd finger morphology",["Abnormality of the 3rd finger","Abnormality of the middle finger"],[1167]],[4172,"Abnormality of the middle phalanx of the 3rd finger",["Abnormal middle finger bone of the middle finger"],[9316]],[4180,"Short distal phalanx of the 3rd finger",["Hypoplastic/small distal phalanx of the 3rd finger","Short distal phalanx of the third finger","Short outermost bone of the middle finger","Short terminal phalanx of middle finger"],[9421,9461,9882]],[4188,"Abnormal 4th finger morphology",["Abnormality of the 4th finger","Abnormality of the ring finger"],[1167]],[4195,"Osteolytic defects of the phalanges of the 4th finger",["Lytic defects of the phalanges of the ring finger"],[9172,9771]],[4197,"Fourth finger symphalangism",["Fused ring finger bones","Symphalangism of the ring finger"],[9172,9700]],[4207,"Abnormal 5th finger morphology",["Abnormality of the 5th finger","Abnormality of the little finger","Abnormality of the pinkie finger","Abnormality of the pinky finger"],[1167]],[4209,"Clinodactyly of the 5th finger",["Curvature of little finger","Curvature of pinkie finger","Curvature of pinky finger","Bilateral fifth digit clinodactyly","Bilateral fifth finger clinodactyly","Clinodactyly of fifth digit","Clinodactyly of the little finger","Fifth finger clinodactyly","Permanent curving of the pinkie finger"],[9179,40019]],[4213,"Abnormal 5th finger phalanx morphology",["Abnormality of the little finger bone","Abnormality of the phalanges of the 5th finger","Abnormality of the pinkie finger bone","Abnormality of the pinky finger bone"],[4207,5918]],[4214,"Curved phalanges of the 5th finger",["Curved little finger bone","Curved pinkie finger bone","Curved pinky finger bone"],[4095,4213,9770]],[4216,"Osteolytic defects of the phalanges of the 5th finger",["Lytic defects of the phalanges of the little finger"],[4213,9771]],[4218,"Fifth finger symphalangism",["Fused little finger bones","Fused pinkie finger bones","Fused pinky finger bones","Symphalagism of the little finger"],[4213,9700]],[4219,"Abnormality of the middle phalanx of the 5th finger",["Abnormality of the middle bone of little finger","Abnormality of the middle bone of pinkie finger","Abnormality of the middle bone of pinky finger"],[4213]],[4220,"Short middle phalanx of the 5th finger",["5th finger middle phalangeal hypoplasia","Brachymesophalangism V","Brachymesophalangy V (finger)","Fifth finger mid-phalanx hypoplasia","Hypoplastic fifth finger middle phalanx","Hypoplastic middle phalanx of the 5th finger","Hypoplastic/small middle phalanx of the 5th finger","Hypoplastic/small middle phalanx of the little finger","Short middle bone of the little finger","Short middle bone of the pinkie finger","Short middle bone of the pinky finger","Short middle phalanx of the little finger","Type A3 brachydactyly"],[5819,9161,9237,9370]],[4222,"Cone-shaped epiphysis of the distal phalanx of the 5th finger",["Cone-shaped end part of the outermost little finger bone","Cone-shaped end part of the outermost pinkie finger bone","Cone-shaped end part of the outermost pinky finger bone","Cone-shaped epiphysis of the distal phalanx of the little finger"],[9198,9384,10248]],[4223,"Ivory epiphysis of the distal phalanx of the 5th finger",["Increased bone density of end part of the outermost little finger bone","Increased bone density of end part of the outermost pinkie finger bone","Increased bone density of end part of the outermost pinky finger bone","Ivory epiphysis of the distal phalanx of the little finger","Ivory epiphysis of the terminal phalanx of the little finger"],[9198,9388,10252]],[4224,"Abnormality of the epiphysis of the middle phalanx of the 5th finger",["Abnormality of the end part of middle little finger bone","Abnormality of the end part of middle pinkie finger bone","Abnormality of the end part of middle pinky finger bone"],[4219,9152,10244]],[4225,"Abnormality of the distal phalanx of the 5th finger",["Abnormality of the distal phalanx of the little finger","Abnormality of the outermost little finger bone","Abnormality of the outermost pinkie finger bone","Abnormality of the outermost pinky finger bone","Abnormality of the terminal phalanx of the little finger"],[4213]],[4226,"Curved distal phalanx of the 5th finger",["Curved outermost little finger bone","Curved outermost pinkie finger bone","Curved outermost pinky finger bone","Curved terminal phalanx of the little finger"],[4214,4225,9838]],[4227,"Short distal phalanx of the 5th finger",["Brachytelophalangism V","Fifth digit distal phalangeal hypoplasia","Hypoplastic/small terminal phalanx of the little finger","Short distal phalanx of the fifth finger","Short outermost little finger bone","Short outermost pinkie finger bone","Short outermost pinky finger bone"],[9237,9239,9882]],[4230,"Subluxation of the proximal interphalangeal joint of the little finger",["Partially dislocated innermost hinge joint of little finger","Partially dislocated innermost hinge joint of pinkie finger","Partially dislocated innermost hinge joint of pinky finger"],[4207,32153]],[4231,"Carpal bone aplasia",["Absent wrist bone","Missing wrist bone","Absent carpal bone","Absent carpal bones","Absent carpal ossification center","Absent carpal ossification centre","Aplastic carpal bone"],[6502]],[4232,"Accessory carpal bones",["Extra wrist bones","Supernumerary carpal bones"],[1191,4275]],[4233,"Advanced ossification of carpal bones",["Accelerated wrist bone maturation","Accelerated carpal bone maturation","Advanced carpal bone age","Advanced carpal ossification","Precociously ossified carpal bones"],[6257]],[4234,"Bone-in-a-bone appearance of carpal bones",["Bone-in-a-bone appearance of wrist bones"],[9164,11001]],[4235,"Comma-shaped carpal bones",["Comma-shaped wrist bones"],[6014]],[4236,"Irregular carpal bones",["Irregular wrist bones"],[6014]],[4237,"Large carpal bones",["Large wrist bones","Large carpals"],[6014]],[4238,"Lytic defects of carpal bones",[],[1495]],[4239,"Proximally placed carpal bones",[],[1191]],[4240,"Sclerotic foci within carpal bones",["Hardened spots within wrist bones","Stiffened spots within wrist bones"],[4054,9164]],[4241,"Stippled calcification in carpal bones",["Punctate calcifications of carpals"],[4054,9164]],[4242,"Broad carpal bones",["Wide wrist bones","Wide carpal bones"],[4237]],[4243,"Abnormal scaphoid morphology",["Abnormality of the scaphoid"],[1191]],[4244,"Accessory scaphoid",["Bipartite scaphoid"],[4232,4243]],[4245,"Comma-shaped scaphoid",[],[4235,4243]],[4246,"Delayed ossification of the scaphoid",["Delayed maturation of the scaphoid"],[1216,45003]],[4247,"Small scaphoid",[],[1498,4243]],[4248,"Abnormal lunate bone morphology",[],[1191]],[4249,"Accessory lunate",[],[4232,4248]],[4250,"Proximally placed lunate",[],[4239,4248]],[4251,"Lunate-triquetral fusion",["Lunotriquetral synostosis"],[4248]],[4252,"Abnormal trapezium morphology",[],[1191]],[4253,"Absent trapezium",["Absent trapezium bone"],[4252,6257]],[4254,"Delayed ossification of the trapezium",["Delayed maturation of the trapezium"],[1216,45001]],[4255,"Small trapezium",[],[1498,4252]],[4256,"Abnormal trapezoid bone morphology",["Abnormality of the trapezoid bone"],[1191]],[4257,"Delayed ossification of the trapezoid bone",["Delayed maturation of the trapezoid bone"],[1216,45004]],[4258,"Small trapezoid bone",[],[1498,4256]],[4259,"Abnormal hamate bone morphology",["Abnormality of the hamate bone"],[1191]],[4260,"Large hamate bone",["Large unciform bone"],[4237,4259]],[4261,"Wide hamate bone",["Broad hamate bone","Wide unciform bone"],[4242,4260]],[4262,"Abnormal capitate bone morphology",["Abnormality of the capitate bone"],[1191]],[4263,"Large capitate bone",[],[4237,4262]],[4264,"Narrow carpal joint spaces",["Decreased carpal joint angles"],[1191]],[4267,"Narrow small joints of the hand",[],[6261]],[4268,"Osteoarthritis of the small joints of the hand",[],[2758,6261]],[4269,"Subluxation of the small joints of the hand",["Partial dislocation of small joints of hand"],[6261,32153]],[4271,"Cortical thickening of hand bones",[],[5926,100039]],[4272,"Cortical thinning of hand bones",[],[2753,5926]],[4273,"Cupped metaphyses of hand bones",["Cupped metaphysis of hand bones","Cupped wide portion of hand bones"],[5923]],[4274,"Deficient ossification of hand bones",["Deficient maturation of hand bones"],[10660]],[4275,"Duplication of hand bones",[],[5922,9142]],[4276,"Exostoses of hand bones",[],[5922,100777]],[4277,"Fractured hand bones",["Broken hand bones"],[5922,20110]],[4278,"Synostosis involving bones of the hand",["Fused hand bones"],[5922,100238]],[4279,"Short palm",["Hypoplastic hands","Short hands","Short palms"],[5927,100871]],[4280,"Irregular ossification of hand bones",["Irregular maturation of hand bones"],[10660]],[4281,"Irregular sclerosis of hand bones",[],[4054]],[4283,"Narrow palm",["Narrow hand","Narrow hands"],[100871]],[4284,"Notched hand bones",[],[5922]],[4285,"Overmodelled hand bones",[],[5922]],[4286,"Patchy sclerosis of hand bones",["Uneven increase in bone density in hand bones"],[4281]],[4287,"Pointed hand bones",[],[5922]],[4288,"Pseudoepiphyses of hand bones",[],[5924,10584]],[4289,"Sclerotic foci in hand bones",[],[4281]],[4290,"Sclerosis of hand bones with transverse striations",[],[4281]],[4291,"Stippled calcification of hand bones",[],[4280]],[4292,"Undermodelled hand bones",[],[5922]],[4293,"Synostosis of second metacarpal-trapezoid",["Fusion of second metacarpal-trapezoid"],[9705,100328]],[4294,"Subluxation of metacarpal phalangeal joints",["Partial knuckle dislocation","Subluxation of metacarpophalangeal joints"],[11911,32153]],[4295,"Abnormal gastric mucosa morphology",["Abnormality of the gastric mucosa","Abnormality of the mucous membrane layer of stomach"],[2577]],[4296,"Abnormal gastrointestinal vascular morphology",["Abnormality of GI blood vessels","Abnormality of GI vasculature","Abnormality of gastrointestinal vasculature"],[12718,25015]],[4297,"Abnormality of the biliary system",[],[1392]],[4298,"Abnormal abdominal wall morphology",["Abnormality of external features of the abdomen","Abnormality of the abdominal wall"],[25031]],[4299,"Hernia of the abdominal wall",["Herniated abdominal wall"],[10866,100790]],[4302,"Functional motor deficit",["Functional motor problems"],[11804]],[4303,"Abnormal muscle fiber morphology",["Abnormal muscle fibre morphology","Abnormal skeletal muscle fiber morphology","Abnormal skeletal muscle fibre morphology","Abnormality of muscle fibers","Abnormality of muscle fibres"],[11805]],[4305,"Involuntary movements",["Involuntary muscle contractions"],[11442,100022]],[4306,"Abnormal endocardium morphology",["Abnormality of the endocardium","Abnormality of the endomycoardium"],[1627]],[4307,"Abnormal anatomic location of the heart",[],[1627]],[4308,"Ventricular arrhythmia",["Ventricular arrhythmias"],[11675]],[4309,"Ventricular preexcitation",["Pre-excitation syndrome","Preexcitation","Ventricular pre-excitation"],[4308]],[4311,"Abnormal macrophage morphology",["Abnormality of histiocytes","Abnormality of macrophages"],[10974]],[4312,"Abnormal reticulocyte morphology",["Abnormality of reticulocytes"],[1877]],[4313,"Decreased circulating immunoglobulin concentration",["Decreased antibody level in blood","Decreased circulating antibody level","Decreased immunoglobulin level","Decreased serum immunoglobulin","Hypogammaglobulinemia","Immunoglobulin deficiency","Reduced immunoglobulin levels"],[10701]],[4315,"Decreased circulating IgG concentration",["Decreased IgG level","Decreased IgG level in blood","Decreased circulating IgG level","Decreased gamma-globin expression","Decreased immunoglobulin G","Decreased serum IgG","IgG deficiency","Reduced IgG levels"],[4313,410242]],[4319,"Decreased circulating aldosterone concentration",["Decreased aldosterone","Decreased aldosterone production","Decreased serum aldosterone","Hypoaldosteronism","Low blood aldosterone level","Mineralocorticoid insufficiency"],[40085]],[4320,"Vaginal fistula",[],[142,100589]],[4321,"Bladder fistula",[],[25487,100589]],[4322,"Short stature",["Decreased body height","Height less than 3rd percentile","Small stature","Stature below 3rd percentile"],[2,1510]],[4323,"Abnormality of body weight",["Abnormality of habitus"],[1507]],[4324,"Increased body weight",["Weight gain"],[4323]],[4325,"Decreased body weight",["Decreased weight","Low body weight","Low weight","Weight less than 3rd percentile"],[4323]],[4326,"Cachexia",["Wasting syndrome"],[1824]],[4327,"Abnormal vitreous humor morphology",["Abnormal vitreous humour morphology"],[4329]],[4328,"Abnormal anterior eye segment morphology",["Abnormal anterior segment morphology","Abnormality of the anterior segment of the eye","Abnormality of the anterior segment of the eyeball","Abnormality of the anterior segment of the globe"],[12372]],[4329,"Abnormal posterior eye segment morphology",["Abnormal morphology of the posterior segment of the globe","Abnormality of the posterior segment of the eye","Abnormality of the posterior segment of the eyeball","Abnormality of the posterior segment of the globe"],[12372]],[4330,"Increased skull ossification",["Hyperossification of skull","Hyperostosis of skull","Sclerosis of bones of skull","Sclerosis of skull","Increased Mineralization of skull","Increased calcification of skull"],[2703,11001]],[4331,"Decreased skull ossification",["Decreased bone formation of skull","Deficient skull ossification","Hypoossification of skull","Ossification defect of skull","Poorly mineralized skull","Poorly ossified skull","Poorly ossified skull bones","Decreased calcification of skull","Decreased mineralization of skull"],[2703,11849]],[4332,"Abnormal lymphocyte morphology",["Abnormal lymphocytes","Abnormality of cells of the lymphoid lineage"],[1881]],[4333,"Bone-marrow foam cells",["Bone marrow foam cells","Large vacuolated foam cells ('NP cells') on bone marrow biopsy","Large vacuolated foam cells on bone marrow biopsy"],[3651,4311]],[4334,"Dermal atrophy",["Atrophic skin","Skin atrophy","Skin degeneration"],[8065]],[4336,"Myelin outfoldings",["Excessive focal folding of myelin sheaths","Irregular myelin foldings"],[30173]],[4337,"Abnormality of amino acid metabolism",["Amino acid levels abnormal"],[32245]],[4338,"Abnormal circulating aromatic amino acid concentration",["Abnormal aromatic amino acid level","Abnormality of aromatic amino acid family metabolism"],[33107]],[4339,"Abnormal circulating sulfur-containing amino acid concentration",["Abnormal circulating sulfur amino acid concentration","Abnormal circulating sulphur amino acid concentration","Abnormal sulfur-containing amino acid level","Abnormality of sulfur-containing amino acids"],[33107]],[4340,"Abnormal circulating vitamin B concentration",["Abnormality of B-vitamin metabolism"],[20350]],[4341,"Abnormal vitamin B12 concentration",["Abnormal serum cobalamin level","Abnormal vitamin B12 level","Abnormality of the vitamin B12 metabolism"],[4340]],[4342,"Abnormal galactosidase enyzme activity",["Abnormality of galactoside metabolism"],[3649]],[4343,"Abnormal glycosphingolipid metabolism",["Abnormality of glycosphingolipid metabolism"],[10969]],[4344,"Abnormality of cerebrosidase metabolism",[],[4343]],[4345,"Ganglioside accumulation",[],[4343]],[4347,"Weakness of muscles of respiration",[],[1324,2795]],[4348,"Abnormality of bone mineral density",["Abnormality of bone mineralisation and ossification"],[11849]],[4349,"Reduced bone mineral density",["Decreased bone mineral density","Decreased bone mineral density Z score","Low solidness and mass of the bones"],[4348]],[4352,"Abnormal circulating purines concentration",["Abnormal circulating purine concentration","Abnormal circulating purine level","Abnormal purines level"],[10932]],[4353,"Abnormal circulating pyrimidine concentration",["Abnormal circulating pyrimidines concentration","Abnormal pyrimidines level"],[10932]],[4354,"Abnormal circulating carboxylic acid concentration",["Abnormal carboxylic acid level"],[430071]],[4356,"Abnormality of lysosomal metabolism",[],[11017]],[4357,"Abnormal circulating leucine concentration",["Abnormal leucine level"],[10892]],[4358,"Abnormality of superoxide metabolism",[],[12379]],[4359,"Abnormal circulating fatty acid concentration",["Abnormal fatty acid level","Abnormality of fatty acid metabolism","Fatty acids abnormal"],[3119,10996]],[4360,"Abnormality of acid-base homeostasis",["Acid base imbalance"],[12337]],[4361,"Abnormal circulating leptin concentration",["Abnormality of circulating leptin level"],[3117]],[4362,"Abnormal enteric ganglion morphology",["Abnormality of enteric ganglion morphology","Abnormality of the enteric ganglia"],[25028]],[4363,"Abnormal circulating calcium concentration",["Abnormal blood calcium concentration","Abnormal blood calcium levels","Abnormal calcium(2+) level","Abnormal circulating Ca concentration","Abnormal circulating Ca2+ concentration"],[10927]],[4364,"Abnormal circulating nitrogen compound concentration",["Abnormal nitrogen compound level"],[430071]],[4365,"Abnormal circulating tryptophan concentration",["Abnormal tryptophan level","Abnormality of tryptophan metabolism"],[4338]],[4368,"Elevated circulating purine concentration",["Elevated purine concentration","Elevated purines level","Increased circulating purine concentration","Increased purine level","Increased purine levels","Increased purines concentration","Increased purines level"],[4352]],[4369,"Decreased circulating purines concentration",["Decreased circulating purine concentration","Decreased purine level","Decreased purine levels","Decreased purines concentration","Decreased purines level","Reduced purines concentration","Reduced purines level"],[4352]],[4370,"Abnormality of temperature regulation",["Impaired temperature control","Impaired temperature regulation","Inability to control temperature","Inability to regulate temperature","Poor control of temperature","Poor regulation of temperature","Poor temperature control","Poor temperature regulation","Unable to control temperature","Body temperature changes"],[12337]],[4371,"Abnormality of glycosaminoglycan metabolism",[],[11017]],[4372,"Reduced consciousness",["Disturbances of consciousness","Lowered consciousness","Reduced consciousness/confusion"],[11446]],[4373,"Focal dystonia",[],[1332]],[4374,"Hemiplegia/hemiparesis",["Paralysis or weakness of one side of body"],[10549]],[4375,"Neoplasm of the nervous system",["Tumor of the nervous system","Tumour of the nervous system","Neoplasia of the nervous system","Nervous system cancer"],[11793,12639]],[4376,"Neuroblastic tumor",["Neuroblastic tumour"],[100836]],[4377,"Hematological neoplasm",["Blood tumor","Blood tumour","Haematological neoplasm"],[1871,11793]],[4378,"Abnormality of the anus",[],[25031]],[4379,"Abnormality of alkaline phosphatase level",["Abnormality of ALP level","Abnormality of alkaline phosphatase activity","Alkaline phosphatase abnormal"],[12379]],[4380,"Aortic valve calcification",[],[1646,5146]],[4381,"Supravalvular aortic stenosis",[],[31652]],[4382,"Mitral valve calcification",[],[1633,5146]],[4383,"Hypoplastic left ventricle",["Heart left ventricle hypoplasia","Left ventricular hypoplasia","Underdeveloped left heart"],[1961,45017]],[4384,"Type I truncus arteriosus",["Persistent truncus arteriosus type I","Type 1 truncus arteriosus"],[1660]],[4385,"Protracted diarrhea",["Protracted diarrhoea"],[2014]],[4386,"Gastrointestinal inflammation",["GI inflammation"],[12649,12719]],[4387,"Enterocolitis",[],[2583]],[4388,"Microcolon",["Microcolon on contrast enema"],[100811]],[4389,"Intestinal pseudo-obstruction",["Intestinal pseudoobstruction"],[2242,2579]],[4390,"Hamartomatous polyposis",["Gastrointestinal hamartoma","Hamartomatous polyps","Gastrointestinal hamartomatous polyps"],[5266,10566]],[4392,"Prune belly",[],[4298]],[4394,"Multiple gastric polyps",[],[6753]],[4395,"Malnutrition",[],[11458]],[4396,"Poor appetite",["Decreased appetite","Loss of appetite","No appetite"],[11458]],[4397,"Ectopic anus",["Abnormal anus position","Anus malposition"],[34915]],[4398,"Peptic ulcer",["Sore in the lining of gastrointestinal tract"],[34274]],[4399,"Congenital pyloric atresia",[],[4400]],[4400,"Abnormality of the pylorus",[],[2577]],[4401,"Meconium ileus",["Meconium ileus in neonates","Distal intestinal obstruction syndrome","Meconium ileus on ultrasonography"],[10676]],[4403,"Proximal esophageal atresia",[],[2032]],[4404,"Abnormal nipple morphology",["Abnormality of the nipple"],[31093]],[4405,"Prominent nipples",[],[4404]],[4406,"Spontaneous, recurrent epistaxis",["Recurrent epistaxes","Recurrent epistaxis","Recurring nosebleed","Spontaneous, recurrent nosebleed"],[421]],[4407,"Bony paranasal bossing",[],[12812]],[4408,"Abnormality of the sense of smell",["Abnormal sense of smell","Abnormality of olfaction","Smell defect"],[366,12638]],[4409,"Hyposmia",["Decreased smell sensation","Sense of smell impaired"],[4408]],[4411,"Deviated nasal septum",["Crooked nasal septum","Crooked septum of nose","Deviated septum of nose"],[419]],[4414,"Abnormality of the pulmonary artery",["Abnormality of lung artery"],[4930]],[4415,"Pulmonary artery stenosis",["Narrowing of lung artery"],[30966]],[4416,"Precocious atherosclerosis",["Premature plaque build-up in arteries","Premature atherosclerosis"],[2621]],[4417,"Intermittent claudication",[],[25323]],[4418,"Thrombophlebitis",[],[4936]],[4419,"Recurrent thrombophlebitis",["Recurrent phlebitis","Recurrent thrombosis"],[4418]],[4420,"Arterial thrombosis",["Blood clot in artery"],[1977]],[4421,"Elevated systolic blood pressure",["Elevated systolic BP"],[32263]],[4422,"Biparietal narrowing",["Decreased width of the skull"],[2683]],[4423,"Cranium bifidum occultum",[],[2084]],[4425,"Flat forehead",["Flattened forehead","Frontal flattening"],[290]],[4426,"Abnormal cheek morphology",["Abnormality of the cheek","Abnormality of the cheeks","Anomaly of the cheeks","Deformity of the cheeks","Malformation of the cheeks"],[309]],[4428,"Elfin facies",["Elf-like facial appearance","Elf-like facial features","Leprechaun facies"],[1999]],[4429,"Recurrent viral infections",[],[2719]],[4430,"Severe combined immunodeficiency",["Immunodeficiency, severe combined"],[5387]],[4431,"Reduced circulating complement concentration",["Complement deficiency"],[5339]],[4432,"Agammaglobulinemia",["Agammaglobulinaemia"],[4313]],[4433,"Decreased secretory IgA concentration",[],[41078]],[4434,"Decreased circulating complement C8 concentration",["C8 deficiency","Decreased serum complement C8"],[33057]],[4437,"Cranial hyperostosis",["Enlargement of skull bones","Excessive growth of skull bones","Hypertrophy of cranial bones","Overgrowth of skull bones","Thick skull bones","Hyperostosis of cranial bones","Hyperostosis of cranial vault","Increased ossification of cranial bones"],[2683,100774]],[4438,"Hyperostosis frontalis interna",["Enlargement of the inner surface of the frontal bone","Hypertrophy of the internal surface of the frontal bone","Increased ossification of the internal surface of the frontal bone","Overgrowth of the inside of the frontal bone","Thick inner surface of the frontal bone","Thick internal surface of the frontal bone","Excessive growth of inner surface of the frontal bone","Hyperostosis of the internal surface of the frontal bone","Overgrowth of the inner surface of the frontal bone"],[4437]],[4439,"Craniofacial dysostosis",["Crouzon syndrome"],[271,929]],[4440,"Coronal craniosynostosis",["Coronal suture craniosynostosis","Coronal suture synostosis","Craniosynostosis of coronal suture"],[1363]],[4442,"Sagittal craniosynostosis",["Craniosynostosis, sagittal","Craniosynostosis, sagittal suture","Early closure of midline skull joint","Midline skull joint closes early","Sagittal suture synostosis"],[1363]],[4443,"Lambdoidal craniosynostosis",["Lambdoid suture craniosynostosis","Lambdoid suture synostosis"],[1363]],[4444,"Spherocytosis",[],[4447]],[4445,"Elliptocytosis",["Ovalocytes","Ovalocytosis","Elliptocyte","Hereditary elliptocytosis"],[4447]],[4446,"Stomatocytosis",["Red cell stomatocytosis","erythrocyte stomatocytes"],[4447]],[4447,"Poikilocytosis",[],[1877]],[4448,"Fulminant hepatic failure",[],[6554]],[4450,"Preauricular skin furrow",["Preauricular skin furrows","Preauricular skin groove","Preauricular skin sulcus","Skin groove in front of the ear","Skin sulcus in front of the ear"],[383]],[4451,"Postauricular skin tag",["Postauricular acrochordon","Postauricular fibroepithelial polyp","Skin tag behind the ear"],[383]],[4452,"Abnormality of the middle ear ossicles",["Malformed ossicles","Ossicular malformation"],[8609]],[4453,"Overfolding of the superior helices",["Overfolding of superior helix"],[396]],[4454,"Abnormal middle ear reflexes",[],[11452]],[4458,"Dilatated internal auditory canal",["Bulbous internal auditory canal","Enlarged internal auditory canal"],[11384]],[4459,"Exostosis of the external auditory canal",["External auditory canal exostoses"],[372,40095,100777]],[4461,"Congenital earlobe sinuses",[],[363]],[4463,"Absent brainstem auditory responses",["No auditory brainstem response"],[6958]],[4464,"Postauricular pit",["Pit behind the ear","Postauricular earpits","Postauricular fistula","Posterior auricular pit","Posterior auricular sinus"],[100277]],[4466,"Delayed brainstem auditory evoked response conduction time",[],[6958]],[4467,"Preauricular pit",["Ear pit","Pit in front of the ear","Preauricular earpits","Preauricular fistulas","Preauricular pits","Preauricular sinus"],[100277]],[4468,"Anomalous tracheal cartilage",["Abnormal tracheal cartilaginous ring"],[2778]],[4469,"Chronic bronchitis",[],[12387]],[4470,"Atretic occipital cephalocele",[],[11815]],[4471,"Aplasia cutis congenita over the scalp vertex",["Absent cutis congenita of vertex","Aplasia cutis congenita of vertex"],[7385]],[4472,"Mandibular hyperostosis",["Excessive growth of mandibular bone","Overgrowth of mandibular bone","Thick lower jaw bone","Thick mandibular bone","Hyperostosis of lower jaw","Hyperostosis of mandibular bone","Increased ossification of mandibular bone","Increased ossification of lower jaw","Increased ossification of mandible"],[5465]],[4474,"Persistent open anterior fontanelle",["Front fontanelle stays open","Persistent, open anterior fontanel","Anterior fontanelle open in adults"],[1476]],[4476,"Aplasia cutis congenita over parietal area",["Absent cutis congenita over parietal area"],[7385]],[4481,"Progressive macrocephaly",["Macrocephaly, progressive","Progressively abnormally enlarging cranium","Progressively abnormally enlarging skull"],[256]],[4482,"Relative macrocephaly",["Disproportionately large head","Macrocephaly, relative","Relatively large head"],[256]],[4484,"Craniofacial asymmetry",["Uneven craniofacial structures","Abnormality of craniofacial shape","Malformation of craniofacial shape"],[267,324,11821]],[4485,"Cessation of head growth",["Skull stopped growing","Cranium stopped growing","Head stopped growing"],[5484]],[4487,"Acrobrachycephaly",[],[248]],[4488,"Macrocephaly at birth",["Big head present at birth","Big head present since birth","Congenital large head","Large head present at birth","Large head present since birth","Big cranium present at birth","Big cranium present since birth","Big skull present at birth","Big skull present since birth","Congenital large cranium","Congenital large skull","Congenital macrocephaly","Head circumference large for gestational age","Large cranium present at birth","Large cranium present since birth","Large skull present at birth","Large skull present since birth"],[256]],[4490,"Calvarial hyperostosis",["Enlargement of calvarial bones","Excessive growth of calvarial bones","Hypertrophy of calvarial bones","Overgrowth of calvarial bones","Thick calvarial bones","Hyperostosis of calvarial bones","Increased ossification of calvarial bones","Overgrowth of skullcap"],[4437]],[4491,"Large posterior fontanelle",["Large posterior fontanel"],[239]],[4492,"Widely patent fontanelles and sutures",["Widely patent fontanels and sutures"],[239,10537]],[4493,"Craniofacial hyperostosis",["Enlargement of craniofacial bones","Excessive growth of craniofacial bones","Hypertrophy of craniofacial bones","Overgrowth of craniofacial bones","Thick craniofacial bones","Excessive bone growth of the skull and face","Hyperostosis of craniofacial bones","Increased ossification of craniofacial bones"],[271,4437,11821]],[4499,"Chronic rhinitis due to narrow nasal airway",["Chronic nasal inflammation due to narrow nasal airway"],[2257]],[4502,"Bilateral choanal atresia",["Bilateral blockage of the rear opening of the nasal cavity","Bilateral obstruction of the rear opening of the nasal cavity"],[453]],[4510,"Pancreatic islet-cell hyperplasia",["Hyperplastic islets of langerhans","Hypertrophic pancreatic islets","Islet of Langerhans hyperplasia","Islets of langerhans hypertrophy","Pancreatic islet-cell hypertrophy"],[6476]],[4523,"Long eyebrows",["Elongated eyebrow","Increased horizontal length of eyebrow","Increased transverse length of eyebrow"],[534]],[4524,"Temporal hypotrichosis",["Reduced hair growth in temporal region"],[11361]],[4527,"Large clumps of pigment irregularly distributed along hair shaft",[],[2220]],[4528,"Generalized hypotrichosis",["Generalised hypotrichosis","Hypotrichosis, generalised","Hypotrichosis, generalized"],[8070]],[4529,"Atrophic, patchy alopecia",[],[2232]],[4532,"Sacral hypertrichosis",[],[998]],[4535,"Anterior cervical hypertrichosis",["Congenital cervical hypertrichosis","Hypertrichosis, congenital anterior cervical"],[998]],[4540,"Congenital, generalized hypertrichosis",["Congenital generalised hypertrichosis","Congenital generalized hypertrichosis","Congenital, generalised hypertrichosis","Hypertrichosis universalis"],[998]],[4552,"Scarring alopecia of scalp",["Cicatricial alopecia","Hair loss on scalp from scarring condition"],[987,2293]],[4554,"Generalized hypertrichosis",["Generalised hypertrichosis"],[998]],[4557,"Anterior vertebral fusion",[],[2948]],[4558,"Cervical platyspondyly",["Flattened cervical vertebral bodies"],[926,46508]],[4562,"Beaking of vertebral bodies T12-L3",[],[4568]],[4563,"Increased spinal bone density",["Increased density of spinal bone","Ivory spinal bone","Compact spinal bone","Concrete spinal bone","Dense spinal bone","Eburnation of spinal bone","Increased spinal bone density Z-score","Sclerosis of spinal bone"],[4330]],[4565,"Severe platyspondyly",["platyspondyly, extreme"],[926]],[4566,"Pear-shaped vertebrae",["Pear-shaped vertebral bodies"],[3312]],[4568,"Beaking of vertebral bodies",["Anterior beaking of vertebrae","Anterior beaking of vertebral bodies","Beaked vertebral bodies","Vertebral tongue-like protrusion","anterior beaking"],[3312]],[4570,"Increased vertebral height",["Tall vertebral bodies"],[3312]],[4571,"Widening of cervical spinal canal",[],[46508]],[4573,"Anterior wedging of T11",["Anterior wedging of the 11th thoracic vertebra","Wedge-shaped 11th thoracic vertebra"],[8422]],[4575,"Fusion of midcervical facet joints",[],[2949]],[4576,"Sclerotic vertebral endplates",["Endplate sclerosis"],[5106]],[4580,"Anterior scalloping of vertebral bodies",["Anterior scalloping vertebral bodies"],[4586]],[4581,"Increased anterior vertebral height",[],[4570]],[4582,"Irregularity of vertebral bodies",[],[3312]],[4586,"Biconcave vertebral bodies",["Biconcave 'codfish' vertebrae","Biconcave vertebrae","Codfish vertebrae","Fish vertebrae","Scalloping of vertebral bodies"],[3312]],[4589,"Dysplasia of second lumbar vertebra",[],[3468]],[4590,"Hypoplastic sacrum",["Small sacrum"],[8517]],[4591,"Disc-like vertebral bodies",[],[3312]],[4592,"Thoracic platyspondyly",[],[926]],[4594,"Hump-shaped mound of bone in central and posterior portions of vertebral endplate",[],[3301]],[4598,"Supernumerary vertebral ossification centers",["Supernumerary vertebral ossification centres"],[926,100569]],[4599,"Absent or minimally ossified vertebral bodies",[],[100569]],[4601,"Spina bifida occulta at L5",[],[3298]],[4602,"Cervical C2/C3 vertebral fusion",["Fusion of cervical vertebrae c2-3","Klippel-Feil anomaly","Klippel-Feil syndrome"],[2949]],[4603,"Hyperconvex vertebral body endplates",[],[5106]],[4605,"Absent vertebral body mineralization",[],[4599]],[4606,"Unossified vertebral bodies",[],[4599]],[4607,"Anterior beaking of lower thoracic vertebrae",[],[4568]],[4608,"Anteriorly placed odontoid process",[],[3310]],[4609,"Patchy distortion of vertebrae",[],[3312]],[4610,"Lumbar spinal canal stenosis",["Lumbar spinal stenosis","Narrow lumbar spinal canal"],[3416]],[4611,"Anterior concavity of thoracic vertebrae",["Anteriorly concave vertebrae"],[3312]],[4614,"Spina bifida occulta at S1",[],[3298]],[4616,"Cleft vertebral arch",["Cleft vertebral arches"],[8438]],[4617,"Butterfly vertebral arch",[],[8438]],[4618,"Sandwich appearance of vertebral bodies",[],[3312]],[4619,"Lumbar kyphoscoliosis",[],[2751,4626,8454]],[4621,"Enlarged vertebral pedicles",["Hyperplastic vertebral pedicles"],[30277]],[4622,"Progressive intervertebral space narrowing",[],[2945]],[4625,"Biconvex vertebral bodies",[],[3312]],[4626,"Lumbar scoliosis",[],[2944]],[4629,"Small cervical vertebral bodies",["Small cervical vertebrae"],[8479]],[4630,"Anterior beaking of thoracic vertebrae",[],[4568]],[4631,"Decreased cervical spine flexion due to contractures of posterior cervical muscles",["Inability to touch chin to chest","Contracture of post-cervical muscles"],[1371]],[4632,"Cervical segmentation defect",["Cervical spine segmentation defect"],[3422]],[4633,"Lower thoracic kyphosis",["Round mid-back"],[2942]],[4634,"Cuboid-shaped vertebral bodies",["Cuboid vertebral bodies"],[3312]],[4635,"Cervical C5/C6 vertebrae fusion",[],[2949]],[4637,"Decreased cervical spine mobility",["Limited neck movement"],[3319]],[4639,"Elevated amniotic fluid alpha-fetoprotein concentration",["Elevated amniotic fluid alpha fetal protein","Elevated amniotic fluid alpha foetal protein","Elevated amniotic fluid alpha-1-fetoprotein","Elevated amniotic fluid alpha-fetoglobulin"],[34899]],[4646,"Hypoplasia of the nasal bone",["Small nasal bone","Decreased size of nasal bone","Deficiency of nasal bone","Nasal bone hypoplasia","Underdevelopment of nasal bone","Hypotrophic nasal bone"],[9924,10940]],[4660,"Hypoplasia of facial musculature",["Small facial muscles","Decreased size of facial muscles","Deficiency of facial musculature","Underdevelopment of facial muscles","Atrophy of facial musculature","Hypotrophic facial musculature"],[301]],[4661,"Frontalis muscle weakness",["Weak frontalis muscle","Weakness of forehead muscle"],[10628,3000004]],[4664,"Facial midline hemangioma",[],[329]],[4673,"Decreased facial expression",[],[5346]],[4676,"Prominent supraorbital arches in adult",[],[336]],[4679,"Large tarsal bones",["Large ankle bones"],[1850]],[4681,"Deep longitudinal plantar crease",["Foot crease","Longitudinal groove on soles"],[1869]],[4684,"Talipes valgus",[],[34673,5210430]],[4686,"Short third metatarsal",["Hypoplasia of the 3rd metatarsal bone","Short 3rd long bone of foot"],[10672,10743]],[4688,"Irregular tarsal bones",["Abnormal shape of ankle bones"],[1850]],[4689,"Short fourth metatarsal",["Bilateral fourth metatarsal shortening","Short 4th long bone of foot","Short fourth metatarsus","Short fourth metatarsals"],[10743,40035]],[4690,"Thickened Achilles tendon",[],[5109,32523]],[4691,"2-3 toe syndactyly",["2-3 syndactyly of feet","2-3 toe soft tissue syndactyly","2-3 toes syndactyly","Syndactyly of second and third toes","Toe syndactyly, 2-3","Webbed 2nd and 3rd toes","partial or complete syndactyly 2nd-3rd toes"],[1770]],[4692,"4-5 toe syndactyly",["Symmetric syndactyly, toes 4 and 5","Syndactyly of toes 4 and 5","Webbed 4th-5th toes"],[1770]],[4695,"Calcaneal epiphyseal stippling",[],[10655]],[4696,"Talipes cavus equinovarus",[],[1762]],[4699,"Osteoporotic metatarsal",[],[1832]],[4704,"Short fifth metatarsal",["Hypoplasia of the fifth metatarsal bone","Short 5th long bone of foot"],[8089,10743]],[4712,"Renal malrotation",["Abnormal rotation of the kidneys","Malrotation of the kidney"],[12210]],[4713,"Reversible renal failure",["Reversible kidney failure"],[83]],[4717,"Axial malrotation of the kidney",[],[4712]],[4719,"Hyperechogenic kidneys",["Echogenic kidneys","Increased echogenicity of the renal parenchyma"],[33130]],[4722,"Thickened glomerular basement membrane",["Thickening of the glomerular basement membrane"],[33282]],[4724,"Calcium nephrolithiasis",["Ca kidney stone","Ca nephrolithiasis","Ca2+ kidney stone","Ca2+ nephrolithiasis","Calcium kidney stone"],[787]],[4727,"Impaired renal concentrating ability",["Urine concentrating defect","Urine concentration defect"],[11038]],[4729,"Acute tubulointerstitial nephritis",[],[1970]],[4732,"Impaired renal uric acid clearance",["Uric acid fractional excretion decreased"],[11036]],[4734,"Renal cortical microcysts",["Cortical microcysts","Multiple renal cortical microcysts","Multiple small renal cortical cysts"],[803]],[4736,"Crossed fused renal ectopia",["Crossed-fused renal ectopia","Ectopic kidney with fusion"],[86]],[4737,"Global glomerulosclerosis",[],[96]],[4742,"Abnormal renal collecting system morphology",["Abnormal collecting system","Abnormality of the renal collecting system","Renal collecting system anomalies"],[12210]],[4743,"Chronic tubulointerstitial nephritis",[],[1970]],[4746,"Glomerular subendothelial electron-dense deposits",["Dense deposit disease","Membranoproliferative glomerulonephritis type II"],[30949]],[4749,"Atrial flutter",[],[1692]],[4751,"Paroxysmal ventricular tachycardia",["Episodes of ventricular tachycardia"],[4756]],[4752,"Congenital atrioventricular dissociation",[],[11709]],[4754,"Permanent atrial fibrillation",["Chronic atrial fibrillation"],[5110]],[4755,"Supraventricular tachycardia",["SVT","Supraventricular tachyarrhythmia"],[1649,5115]],[4756,"Ventricular tachycardia",[],[1649]],[4757,"Paroxysmal atrial fibrillation",["Atrial fibrillation, paroxysmal","Intermittent atrial fibrillation","Paroxysmal AF"],[5110]],[4758,"Effort-induced polymorphic ventricular tachycardia",["Catecholaminergic polymorphic ventricular tachycardia","Exercise-induced polymorphic ventricular tachycardia"],[4756]],[4761,"Post-angioplasty coronary artery restenosis",[],[1677]],[4762,"Hypoplasia of right ventricle",["Heart right ventricle hypoplasia","Small right heart chamber","Underdeveloped right heart chamber"],[1707]],[4763,"Paroxysmal supraventricular tachycardia",["Episodic rapid heart beat","Episodic supraventricular tachycardia","PSVT"],[4755]],[4764,"Myxomatous mitral valve degeneration",[],[1634]],[4768,"Sparse anterior scalp hair",["Sparse scalp hair at front of head","Thin scalp hair at front of head"],[599,2209]],[4771,"Premature graying of body hair",["Premature greying of body hair"],[2216]],[4779,"Brittle scalp hair",[],[2299]],[4780,"Elbow hypertrichosis",["Hairy elbow","Hairy elbow syndrome","Hypertrichosis cubiti","Pilosity of elbow"],[998]],[4783,"Duodenal polyposis",["Multiple duodenal polyps"],[30256]],[4784,"Juvenile gastrointestinal polyposis",["Juvenile GI polyposis"],[4390]],[4785,"Malrotation of colon",[],[2250,2566]],[4786,"Jejunal diverticula",[],[2256]],[4787,"Fulminant hepatitis",[],[4448,12115]],[4788,"Intestinal lymphedema",[],[1004,5225]],[4789,"Lactose intolerance",["Milk intolerance"],[2024]],[4790,"Hypoplasia of the small intestine",["Underdeveloped small intestine"],[2244,5245]],[4791,"Esophageal ulceration",["Esophagus ulcer","Oesophagus ulcer","Oesophagus ulceration"],[2031,34274]],[4792,"Rectoperineal fistula",[],[4871,100590]],[4794,"Malrotation of small bowel",["Malrotation of the small intestine"],[2244,2566]],[4795,"Hamartomatous stomach polyps",[],[4390,6753]],[4796,"Gastrointestinal obstruction",["GI obstruction","Obstruction in digestive tract"],[12719]],[4797,"Multiple small bowel atresias",[],[11100]],[4798,"Recurrent infection of the gastrointestinal tract",["Recurrent gastrointestinal infections","Recurrent infection of the GI tract","Gastrointestinal infections","Gastrointestinal infections, recurrent"],[2719,32166]],[4799,"Jejunoileal diverticula",[],[2256]],[4800,"Duodenal diverticula",[],[2256]],[4802,"Episodic hemolytic anemia",["Episodic hemolysis","Episodic hemolytic anaemia"],[1878]],[4804,"Congenital hemolytic anemia",["Congenital haemolytic anaemia","Congenital haemolytic anemia","Congenital hemolytic anaemia","Neonatal hemolytic anaemia","Neonatal hemolytic anemia"],[1878]],[4808,"Acute myeloid leukemia",["AML","Acute myeloblastic leukaemia","Acute myeloblastic leukemia","Acute myelocytic leukaemia","Acute myelocytic leukemia","Acute myelogenous leukaemia","Acute myelogenous leukemia","Acute myeloid leukaemia"],[2488]],[4809,"Neonatal alloimmune thrombocytopenia",[],[1873]],[4810,"Congenital hypoplastic anemia",["Congenital dyserythropoietic anaemia","Congenital dyserythropoietic anemia","Congenital hypoplastic anaemia"],[1908]],[4812,"B Acute Lymphoblastic Leukemia",["B Acute Lymphoblastic Leukaemia","Pre-B-cell acute lymphoblastic leukaemia","Pre-B-cell acute lymphoblastic leukemia"],[6721]],[4813,"Post-transfusion thrombocytopenia",["Post-transfusion purpura"],[1873]],[4814,"Fava bean-induced hemolytic anemia",["Fava bean-induced hemolytic anaemia","Hemolytic anaemia following ingestion of fava beans","Hemolytic anemia following ingestion of fava beans"],[1878]],[4817,"Drug-sensitive hemolytic anemia",["Drug-sensitive hemolytic anaemia"],[1878]],[4818,"Paroxysmal nocturnal hemoglobinuria",["Paroxysmal nocturnal haemoglobinuria"],[3641]],[4819,"Normocytic hypoplastic anemia",["Normocytic hypoplastic anaemia"],[1908]],[4820,"Acute myelomonocytic leukemia",["Acute myelomonocytic leukaemia"],[2488,12324]],[4821,"Hypersegmentation of neutrophil nuclei",["Hypermature neutrophils","Hypersegmentation of neutrophil nuclei in peripheral blood"],[11992]],[4822,"Atypical elliptocytosis",[],[4445]],[4823,"Anisopoikilocytosis",[],[4447]],[4825,"Increased hemoglobin oxygen affinity",["Increased Hb O2 affinity","Increased Hb oxygen affinity","Increased haemoglobin O2 affinity","Increased hemoglobin O2 affinity"],[20054]],[4826,"Folate-unresponsive megaloblastic anemia",["Folate-unresponsive megaloblastic anaemia"],[1889]],[4828,"Refractory anemia with ringed sideroblasts",["Myelodysplasia with sideroblastosis","Refractory anaemia with ringed sideroblasts"],[12130,12150]],[4831,"Recurrent thromboembolism",["Recurrent thromboembolic disease"],[1907]],[4835,"Microspherocytosis",[],[4444]],[4836,"Acute promyelocytic leukemia",["Acute promyelocytic leukaemia"],[2488]],[4839,"Pyropoikilocytosis",["hereditary pyropoikilocytosis"],[4447]],[4840,"Hypochromic microcytic anemia",["Hypochromic microcytic anaemia","Hypochromic, microcytic anaemia","Hypochromic, microcytic anemia"],[1931,1935]],[4841,"Reduced factor XII activity",["Factor XII deficiency","Hageman factor deficiency"],[10989]],[4844,"Coombs-positive hemolytic anemia",["Coombs-positive hemolytic anaemia","Direct Coombs positive"],[1878]],[4845,"Acute monocytic leukemia",["AML-M5","AMoL","Acute monoblastic leukaemia","Acute monoblastic leukemia","Acute monocytic leukaemia"],[2488]],[4846,"Prolonged bleeding after surgery",["Excessive bleeding during surgery","Protracted bleeding after surgery"],[11890]],[4848,"Ph-positive acute lymphoblastic leukemia",["Ph-positive acute lymphoblastic leukaemia","Philadelphia-positive acute lymphoblastic leukaemia","Philadelphia-positive acute lymphoblastic leukemia"],[6721]],[4850,"Recurrent deep vein thrombosis",["Recurrent deep vein blood clot","Recurrent venous thrombosis"],[2625]],[4851,"Folate-responsive megaloblastic anemia",["Folate-responsive megaloblastic anaemia"],[1889]],[4852,"Reduced leukocyte alkaline phosphatase",["Low leukocyte alkaline phosphatase","Reduced leukocyte ALP"],[3282]],[4854,"Intermittent thrombocytopenia",[],[1873]],[4855,"Reduced protein S activity",["Protein S deficiency"],[30780]],[4856,"Normochromic microcytic anemia",["Normochromic microcytic anaemia"],[1935]],[4857,"Hyperchromic macrocytic anemia",["Hyperchromic macrocytic anaemia"],[1972]],[4859,"Amegakaryocytic thrombocytopenia",[],[1873]],[4860,"Thiamine-responsive megaloblastic anemia",["Thiamine-responsive megaloblastic anaemia"],[1889]],[4861,"Refractory macrocytic anemia",["Refractory macrocytic anaemia"],[1972]],[4863,"Compensated hemolytic anemia",["Compensated hemolytic anaemia"],[1878]],[4864,"Elevated bone marrow ring sideroblast count",["Refractory sideroblastic anaemia"],[12130]],[4866,"Impaired ADP-induced platelet aggregation",[],[3540]],[4870,"Chronic hemolytic anemia",["Chronic hemolytic anaemia","hemolytic anemia, chronic"],[1878]],[4871,"Perineal fistula",[],[100589]],[4872,"Incisional hernia",["Recurrent abdominal hernia"],[4299]],[4875,"Neonatal inspiratory stridor",[],[2643,5348]],[4876,"Spontaneous neonatal pneumothorax",["Neonatal pneumothorax"],[2108]],[4878,"Intercostal muscle weakness",["Muscle weakness between ribs","Dependence on diaphragmatic breathing"],[1324,2093]],[4879,"Intermittent hyperventilation",["Episodic hyperventilation","Intermittent overbreathing"],[2883]],[4880,"Respiratory infections in early life",[],[2205]],[4881,"Episodic hypoventilation",["Episodic slow breathing","Episodic under breathing"],[2791]],[4885,"Episodic respiratory distress",["Episodic difficulty breathing","respiratory distress, episodic"],[2098]],[4886,"Congenital laryngeal stridor",[],[5348]],[4887,"Respiratory failure requiring assisted ventilation",["Respiratory distress necessitating mechanical ventilation","Respiratory distress requiring endotracheal intubation","Respiratory distress requiring mechanical ventilation"],[2093]],[4889,"Intermittent episodes of respiratory insufficiency due to muscle weakness",[],[2747]],[4890,"Elevated pulmonary artery pressure",["Elevated lung artery pressure","increased pulmonary artery pressure"],[30875]],[4891,"Recurrent infections due to aspiration",[],[2205]],[4894,"Laryngotracheal stenosis",[],[1602,2777]],[4897,"Stress/infection-induced lactic acidosis",["Metabolic crises during febrile infections"],[3128]],[4898,"Persistent lactic acidosis",[],[3128]],[4900,"Severe lactic acidosis",[],[3128]],[4901,"Exercise-induced lactic acidemia",["Exercise-induced lactic acidosis"],[3128]],[4902,"Congenital lactic acidosis",[],[3128]],[4904,"Maturity-onset diabetes of the young",["Maturity onset diabetes of the young","MODY"],[819]],[4905,"Reduced circulating vitamin A concentration",["Low levels of vitamin A","Vitamin A deficiency"],[8372]],[4906,"Hypernatremic dehydration",[],[1986]],[4909,"Hypokalemic hypochloremic metabolic alkalosis",[],[1960,5977]],[4910,"Bicarbonate-wasting renal tubular acidosis",["HCO3-wasting renal tubular acidosis","Renal bicarbonate wasting"],[1947]],[4911,"Episodic metabolic acidosis",["Recurrent episodes of acidosis"],[1942]],[4912,"Hypophosphatemic rickets",[],[2748]],[4913,"Intermittent lactic acidemia",[],[3128]],[4914,"Recurrent infantile hypoglycemia",["Episodic infantile hypoglycemia","Recurrent low blood sugar in infant"],[1988]],[4915,"Impairment of galactose metabolism",["Impaired galactose metabolism"],[32245]],[4916,"Generalized distal tubular acidosis",["Generalised distal tubular acidosis"],[8341]],[4918,"Hyperchloremic metabolic acidosis",["Non-gap acidosis"],[1942,1995]],[4919,"Galactose intolerance",[],[4915]],[4920,"Phenylpyruvic acidemia",[],[32368]],[4921,"Abnormal circulating magnesium concentration",["Abnormal Mg concentration","Abnormal magnesium concentration","Abnormal magnesium(2+) level","Abnormality of magnesium homeostasis","Abnormal magnesium metabolism"],[10927]],[4922,"Atypical hyperphenylalaninemia",[],[10893]],[4923,"Hyperphenylalaninemia",["Elevated phenylalanine concentration","Elevated phenylalanine level","Elevated phenylalanine level in blood","Increased phenylalanine concentration","Increased phenylalanine level","Increased phenylalanine level in blood"],[10893]],[4924,"Abnormal oral glucose tolerance",["Abnormal glucose oral tolerance test"],[40270]],[4925,"Chronic lactic acidosis",[],[3128,12468]],[4926,"Orthostatic hypotension due to autonomic dysfunction",[],[1278]],[4927,"Pulmonary artery dilatation",[],[30966]],[4930,"Abnormality of the pulmonary vasculature",["Abnormality of the lung blood vessels"],[2088,2597]],[4931,"Arteriosclerosis of small cerebral arteries",["Hardened artery wall in small cerebral arteries"],[2634,9145]],[4933,"Ascending aortic dissection",["Type A aortic dissection"],[2647,31784]],[4934,"Vascular calcification",[],[11915,33353]],[4935,"Pulmonary artery atresia",["Atresia of the pulmonary artery","Pulmonary atresia"],[30966]],[4936,"Venous thrombosis",["Blood clot in vein"],[1977]],[4937,"Pulmonary artery aneurysm",[],[4927]],[4938,"Tortuous cerebral arteries",["Twisted cerebral arteries"],[5116,9145]],[4940,"Generalized arterial calcification",["Generalised arterial calcification"],[3207]],[4941,"Extrahepatic portal hypertension",[],[1409]],[4942,"Aortic aneurysm",["Aortic dilatation","Enlarged aorta","Bulge in wall of large artery that carries blood away from heart"],[1679,2617]],[4943,"Accelerated atherosclerosis",["Accelerated plaque build-up in arteries"],[2621]],[4944,"Dilatation of the cerebral artery",["Brain aneurysm","Intracranial aneurysm","Cerebral aneurysm","Cerebral artery aneurysm"],[2617,9145]],[4945,"Extracranial internal carotid artery dissection",[],[5294,12159]],[4947,"Arteriovenous fistula",["Arteriovenous fistulas"],[100026]],[4948,"Vascular tortuosity",["Twisted blood vessels"],[33353]],[4950,"Peripheral arterial stenosis",["Peripheral artery disease","Arterial disease of legs","Occlusive arterial disease","Occlusive vascular disease","Peripheral artery occlusive disease","Peripheral vascular disease"],[100545]],[4952,"Pulmonary arteriovenous fistulas",[],[4947]],[4955,"Generalized arterial tortuosity",["Generalised arterial tortuosity","Generalised twisted arteries","Generalized twisted arteries","Arterial tortuosity, general","Arterial tortuosity, generalised","Arterial tortuosity, generalized"],[5116]],[4959,"Descending thoracic aorta aneurysm",["Dilatation of the descending thoracic aorta"],[12727]],[4960,"Absent pulmonary artery",["Absent lung artery","Missing pulmonary artery"],[30966]],[4961,"Pulmonary artery sling",[],[30966]],[4962,"Thoracic aorta calcification",[],[4963]],[4963,"Calcification of the aorta",[],[1679,3207]],[4964,"Pulmonary arterial medial hypertrophy",["Hypertrophy of the pulmonary artery wall"],[30966]],[4966,"Medial calcification of large arteries",[],[12456]],[4968,"Recurrent cerebral hemorrhage",["Recurrent cerebral haemorrhage","Recurrent hemorrhagic stroke"],[1342]],[4969,"Peripheral pulmonary artery stenosis",["Narrowing of peripheral lung artery","Peripheral pulmonic stenosis","peripheral pulmonary stenosis","Occlusion of small pulmonary arteries"],[4415]],[4970,"Ascending tubular aorta aneurysm",["Ascending aorta dilation","Aneurysm of the ascending tubular aorta","Ascending aortic aneurysm","Ascending aortic dilation","Bulging of wall of large artery located above heart","Dilatation of ascending aorta"],[12727]],[4971,"Pulmonary artery hypoplasia",["Underdeveloped lung artery","Underdeveloped pulmonary artery"],[30966]],[4972,"Elevated mean arterial pressure",[],[32263]],[4974,"Coarctation of abdominal aorta",[],[1680]],[4975,"Erlenmeyer flask deformity of the femurs",["Erlenmeyer flask deformity of distal femur","Erlenmeyer flask femora","Erlenmeyer flask shaped thighbone"],[2823]],[4976,"Knee dislocation",["Dislocations of the knees","Knee dislocations"],[30311,34670]],[4977,"Bilateral radial aplasia",["Bilateral absence of radius"],[3974]],[4979,"Metaphyseal sclerosis",["Increased bone density in wide portion of long bone","Sclerotic metaphyses"],[944]],[4980,"Metaphyseal rarefaction",["Rarefaction of the metaphyses"],[944]],[4981,"Prominent styloid process of ulna",[],[4035]],[4987,"Mesomelic leg shortening",["Mesomelia of the lower limbs","Mesomelic lower limb shortening"],[3027]],[4990,"Epiphyseal streaking",[],[5930]],[4991,"Rhizomelic arm shortening",[],[8905]],[4993,"Slender long bones with narrow diaphyses",["Slender long bones with narrow shaft"],[940,3100]],[4997,"Multicentric ossification of proximal humeral epiphyses",[],[3897]],[5001,"Recurrent patellar dislocation",["Recurrent dislocation of patellas"],[2999,31869]],[5003,"Aplasia/Hypoplasia of the capital femoral epiphysis",["Absent/small end part of innermost thighbone","Absent/underdeveloped end part of innermost thighbone"],[10574,10577]],[5004,"Flattened proximal radial epiphyses",[],[4002,10597]],[5005,"Femoral bowing present at birth, straightening with time",["Bowing of thighbone at birth, straightening with time"],[2980]],[5008,"Large joint dislocations",[],[1373]],[5009,"Dumbbell-shaped humerus",["Dumbbell-shaped long bone in upper arm"],[947]],[5010,"Osteomyelitis leading to amputation due to slow healing fractures",[],[2754]],[5011,"Mesomelic arm shortening",["Mesomelia of the upper limbs","Upper limb brachymesomelia"],[3027]],[5013,"Dysplastic distal radial epiphyses",[],[10597]],[5017,"Polyarticular chondrocalcinosis",[],[934]],[5019,"Diaphyseal undertubulation",["Diaphyseal widening","Thickening of shaft or central part of long bones","Undertubulated long bones","Undertubulation of diaphyses"],[940]],[5021,"Bilateral elbow dislocations",["Dislocated elbows on both sides"],[3042]],[5025,"Hypoplastic distal humeri",[],[6507]],[5026,"Mesomelic/rhizomelic limb shortening",[],[8905]],[5028,"Widened proximal tibial metaphyses",["Wide innermost wide portion of shankbone bone","Wide innermost wide portion of shinbone bone"],[3016]],[5033,"Distal ulnar hypoplasia",["Distal shortening of ulna","Hypoplastic distal ulna"],[3022]],[5035,"Shortening of all phalanges of the toes",["Short toe bones"],[1831,10161]],[5036,"Unilateral ulnar hypoplasia",[],[3022]],[5037,"Proximal radio-ulnar synostosis",[],[2974]],[5039,"Multiple long-bone exostoses",["Multiple exostoses of long tubular bones"],[2762]],[5041,"Irregular capital femoral epiphysis",["Irregular end part of innermost thighbone","Irregular proximal femoral epiphyses","Irregular capital femoral epiphyses"],[6361,10574]],[5042,"Irregular, rachitic-like metaphyses",[],[3025]],[5043,"Proximal humeral metaphyseal irregularity",["Irregular proximal humeral metaphyses"],[3913]],[5045,"Diaphyseal cortical sclerosis",[],[3034]],[5048,"Synostosis of carpal bones",["Fusion of wrist bones"],[9702]],[5050,"Anterolateral radial head dislocation",["Anterior/lateral radial head dislocation"],[3083]],[5054,"Metaphyseal spurs",[],[944]],[5059,"Arthralgia/arthritis",["Joint pain/Joint inflammation"],[1369,2829]],[5060,"Limited elbow flexion/extension",[],[1377,6376]],[5063,"Fragmented, irregular epiphyses",["Fragmented, irregular end part of bone"],[10582,100168]],[5066,"Cone-shaped epiphyses fused within their metaphyses",["Cone-shaped end part of long bone fused within their wide portion of wide bone"],[10579]],[5067,"Proximal fibular overgrowth",["Overgrowth of innermost part of calf bone"],[3099]],[5068,"Absent styloid process of ulna",[],[4035]],[5069,"Rhizo-meso-acromelic limb shortening",[],[8905]],[5070,"Proximal radial head dislocation",[],[3083]],[5072,"Wrist hypermobility",["Hyperextensibility at wrists","Increased laxity of wrists","Increased wrist mobility"],[430046]],[5084,"Anterior radial head dislocation",["Anterior dislocation of radial head"],[3083]],[5085,"Limited knee flexion/extension",[],[10501]],[5086,"Knee osteoarthritis",[],[2758,34669]],[5089,"Abnormal metaphyseal trabeculation",[],[944]],[5090,"Lateral femoral bowing",[],[2980]],[5092,"Streaky metaphyseal sclerosis",["Streak increase in bone density in wide portion of wide bone"],[4979]],[5093,"Absent proximal radial epiphyses",[],[10577,10596]],[5096,"Distal femoral bowing",[],[2980]],[5100,"Premature birth following premature rupture of fetal membranes",["Premature birth following premature rupture of foetal membranes"],[1622,1788]],[5101,"High-frequency hearing impairment",["Hearing loss, high-frequency","High frequency hearing loss","High-frequency deafness","Progressive high frequency hearing loss","Progressive high-frequency hearing loss"],[365]],[5102,"Cochlear degeneration",["Progressive cochlear degeneration"],[375]],[5103,"Calcification of the auricular cartilage",["Cartilaginous ossification of pinnae","Ossification of pinnae","Petrified ear","Ear cartilage calcification"],[377,100593]],[5104,"Hypoplastic nasal septum",["Decreased size of nasal septum","Decreased size of septum of nose","Hypoplasia of septum of nose","Small nasal septum","Small septum of nose"],[9935]],[5105,"Abnormal nasal morphology",["Abnormal nose morphology","Abnormal of morphology of nose","Abnormal of nasal shape","Abnormal of shape of nose"],[366]],[5106,"Abnormality of the vertebral endplates",[],[3312]],[5107,"Abnormal sacrum morphology",["Abnormality of the sacrum"],[925]],[5108,"Abnormal intervertebral disk morphology",["Abnormality of the intervertebral disc","Abnormality of the intervertebral disk"],[925]],[5109,"Abnormal Achilles tendon morphology",["Abnormality of the Achilles tendon","Abnormality of the calcaneal tendon"],[1760,100261]],[5110,"Atrial fibrillation",["Quivering upper heart chambers resulting in irregular heartbeat"],[1692]],[5112,"Abdominal aortic aneurysm",["Dilatation of the abdominal aorta"],[4942]],[5113,"Aortic arch aneurysm",["Aortic arch dilatation","Dilatation of the aortic arch"],[12727]],[5115,"Supraventricular arrhythmia",["Supraventricular arrhythmias"],[11675]],[5116,"Arterial tortuosity",[],[4948,11004]],[5117,"Elevated diastolic blood pressure",["Elevated diastolic BP"],[32263]],[5120,"Abnormal cardiac atrium morphology",["Abnormality of cardiac atrium morphology","Abnormality of heart atrium"],[1627]],[5121,"Posterior scalloping of vertebral bodies",["Posterior vertebral body scalloping"],[4586]],[5129,"Congenital hypertrophy of left ventricle",[],[1712]],[5132,"Pericardial constriction",[],[1697]],[5133,"Right ventricular dilatation",["Dilated heart right ventricle"],[1707]],[5134,"Absence of the pulmonary valve",["Absent pulmonary valve"],[1641]],[5135,"Abnormal T-wave",["EKG: T-wave abnormalities","T-wave abnormalities"],[3115]],[5136,"Mitral annular calcification",["Premature calcification of mitral annulus"],[4382]],[5143,"Anomalous origin of right pulmonary artery from ascending aorta",[],[11660]],[5144,"Ventricular septal hypertrophy",["Thickened interventricular septum"],[10438]],[5145,"Coronary artery stenosis",["Narrowing of coronary artery"],[6704]],[5146,"Cardiac valve calcification",["Calcifications of the cardiac valves"],[1654,11915]],[5147,"Bidirectional ventricular ectopy",[],[6682]],[5148,"Pulmonary valve defects",[],[1641]],[5150,"Abnormal atrioventricular conduction",[],[31546]],[5151,"Preductal coarctation of the aorta",["Proximal aortic coarctation"],[12305]],[5152,"Histiocytoid cardiomyopathy",["Arachnocytosis of the myocardium","Foamy myocardial transformation","Focal lipid cardiomyopathy","Infantile cardiomyopathy with histiocytoid changes","Infantile xanthomatous cardiomyopathy","Isolated cardiac lipidosis","Myocardial or conduction system hamartoma","Oncocytic cardiomyopathy"],[1638]],[5155,"Ventricular escape rhythm",["Idioventricular escape rhythm"],[4308]],[5156,"Hypoplastic left atrium",["Left atrium hypoplasia","Underdeveloped left heart atrium"],[25579]],[5157,"Concentric hypertrophic cardiomyopathy",["Symmetric, concentric, hypertrophic cardiomyopathy"],[1639]],[5160,"Total anomalous pulmonary venous return",["TAPVC","TAPVD","TAPVR","Total anomalous pulmonary venous connection","Total anomalous pulmonary venous drainage"],[10772]],[5162,"Abnormal left ventricular function",["Impaired left ventricular function","Left ventricular dysfunction","Left ventricular failure","Left ventricular impairment","Left-sided heart failure"],[30872]],[5164,"Dysplastic pulmonary valve",["Dysplasia of pulmonary valve","Pulmonary valve dysplasia"],[1641]],[5165,"Shortened PR interval",["Electrocardiographic short PR interval","Short P-R interval","Shortened PR interval on EKG"],[31593]],[5168,"Elevated right atrial pressure",[],[25443]],[5170,"Complete heart block with broad QRS complexes",[],[1709]],[5172,"Left posterior fascicular block",["Left posterior hemiblock"],[11713]],[5174,"Membranous subvalvular aortic stenosis",[],[1682]],[5176,"Dysplastic aortic valve",[],[1646]],[5177,"Premature arteriosclerosis",["Premature hardening of arteries"],[2634]],[5178,"Complete heart block with narrow QRS complexes",[],[1709]],[5180,"Tricuspid regurgitation",["Tricuspid insufficiency","Tricuspid valve regurgitation"],[31651,34376]],[5181,"Premature coronary artery atherosclerosis",["Premature coronary artery disease"],[1677]],[5182,"Bicuspid pulmonary valve",[],[31566]],[5183,"Pericardial lymphangiectasia",[],[1697,31842]],[5184,"Prolonged QTc interval",[],[1657]],[5185,"Global systolic dysfunction",[],[6673]],[5186,"Synovial lining hyperplasia",["Synovial hyperplasia","Synovial hypertrophy"],[5262]],[5187,"Progressive joint destruction",[],[1367]],[5190,"Proximal finger joint hyperextensibility",[],[1187]],[5191,"Congenital knee dislocation",["Dislocated knee since birth"],[4976]],[5193,"Restricted large joint movement",[],[1376]],[5194,"Flattened metatarsal heads",["Flattened head of long bone of foot"],[1832]],[5195,"Polyarticular arthropathy",[],[3040]],[5197,"Generalized morning stiffness",["Generalised morning stiffness"],[1387]],[5198,"Stiff interphalangeal joints",["Stiff hinge joints"],[1387]],[5199,"Aplasia of the abdominal wall musculature",["Absent abdominal musculature"],[10318]],[5200,"Retroperitoneal fibrosis",[],[2585]],[5201,"Anomalous splenoportal venous system",[],[31941]],[5202,"Helicobacter pylori infection",[],[4798]],[5203,"Spontaneous esophageal perforation",["Spontaneous esophageal rupture","Boerhaave syndrome"],[2031]],[5206,"Pancreatic pseudocyst",[],[12090]],[5207,"Gastric hypertrophy",["Increased stomach size"],[2577]],[5208,"Secretory diarrhea",["Secretory diarrhoea"],[2014]],[5209,"Intrahepatic bile duct cysts",[],[11040]],[5210,"Hypoplastic colon",["Hypoplasia of the colon","Underdeveloped colon"],[100811]],[5211,"Midgut malrotation",[],[2566]],[5212,"Anal mucosal leukoplakia",[],[32186]],[5213,"Pancreatic calcification",["Pancreatic calcifications"],[10766,12090]],[5214,"Intestinal obstruction",["Bowel obstruction","Intestinal blockage"],[2242,4796]],[5215,"Frequent Giardia lamblia infestation",[],[4798]],[5216,"Impaired mastication",["Chewing difficulties","Chewing difficulty","Difficulty chewing"],[31815]],[5217,"Abdominal organ duplication",[],[1438]],[5218,"Anoperineal fistula",["Perianal fistula"],[4871,10447]],[5219,"Absence of intrinsic factor",["Intrinsic factor absent from gastric juice"],[2577]],[5220,"Multiple intestinal neurofibromatosis",[],[1067,2242,7378]],[5222,"Bowel diverticulosis",["Bowel diverticula"],[2242]],[5223,"Duplicated colon",[],[2250,100668]],[5224,"Rectal abscess",["Perirectal abscess"],[2034,25615]],[5225,"Intestinal edema",["Intestinal oedema"],[969,2242]],[5227,"Adenomatous colonic polyposis",["Multiple adenomatous colon polyps","Multiple colonic adenomatous polyps"],[30255,100273]],[5229,"Jejunoileal ulceration",[],[1549,5265,34274]],[5230,"Biliary tract obstruction",[],[12440]],[5231,"Chronic gastritis",[],[5263]],[5232,"Pancreatic dysplasia",[],[12090]],[5233,"Hypoplasia of the gallbladder",["Hypoplastic gallbladder"],[11466]],[5234,"Neonatal intestinal obstruction",[],[5214]],[5235,"Jejunal atresia",[],[5265,11100]],[5236,"Chronic calcifying pancreatitis",[],[1733]],[5237,"Degenerative liver disease",[],[410042]],[5238,"Discrete intestinal polyps",[],[200008]],[5240,"Esophageal obstruction",[],[2031,4796]],[5241,"Total intestinal aganglionosis",[],[4362]],[5242,"Extrahepatic biliary duct atresia",["Biliary atresia, extrahepatic"],[5912,35013]],[5243,"Partial abdominal muscle agenesis",[],[10318]],[5244,"Gastrointestinal infarctions",["Death of digestive organ tissue due to poor blood supply","GI infarctions"],[12719]],[5245,"Intestinal hypoplasia",["Hypoplastic intestines","Underdeveloped instestine"],[2242]],[5246,"Giant hypertrophic gastritis",["Menetrier disease"],[5263]],[5247,"Hypoplasia of the abdominal wall musculature",["Abdominal muscular hypoplasia"],[10318]],[5248,"Intrahepatic biliary atresia",["Bile duct paucity","Intrahepatic atresia of biliary duct"],[5912,11040]],[5249,"Functional intestinal obstruction",[],[4796]],[5250,"High intestinal obstruction",[],[5214]],[5253,"Increased anterioposterior diameter of thorax",["Increased anterioposterior diameter of chest"],[100625]],[5254,"Unilateral chest hypoplasia",["Small chest on one side","Underdeveloped chest on one side"],[5257]],[5255,"Absence of pectoralis minor muscle",["Pectoralis minor aplasia"],[11957]],[5256,"Unilateral absence of pectoralis major muscle",["Unilateral aplasia of pectoralis major muscle"],[11957]],[5257,"Thoracic hypoplasia",["Small chest","Small thorax"],[765]],[5258,"Pectoral muscle hypoplasia/aplasia",["Small/absent pec muscle","Underdeveloped/absent pec muscle"],[1435]],[5259,"Abnormal facility in opposing the shoulders",[],[1547]],[5261,"Joint hemorrhage",["Bleeding within a joint","Hemarthroses","Hemarthrosis","Spontaneous joint haemorrhage","Spontaneous joint hemorrhage"],[1367,11029]],[5262,"Abnormal synovial membrane morphology",[],[1367]],[5263,"Gastritis",["Stomach inflammation"],[4295]],[5264,"Abnormality of the gallbladder",["Anomaly of the gallbladder"],[4297]],[5265,"Abnormal jejunum morphology",["Abnormality of the jejunum"],[2244]],[5266,"Intestinal polyp",["Intestinal polyps"],[2242,7378]],[5267,"Premature delivery because of cervical insufficiency or membrane fragility",[],[1622]],[5268,"Miscarriage",["Early fetal demise","Early foetal demise","Spontaneous abortion"],[34241]],[5272,"Prominent nasolabial fold",["Deep laugh lines","Deep nasolabial crease","Deep nasolabial fold","Deep nasolabial groove","Deep smile lines","Nasolabial crease, prominent","Prominent laugh lines","Prominent nasolabial groove","Prominent smile lines"],[5289]],[5273,"Absent nasal septal cartilage",["Absent nasal septum","Ageneis of nasal septal cartilage","Failure of development of nasal septal cartilage"],[9935,3000034]],[5274,"Prominent nasal tip",["Large nasal tip","Large tip of nose","Prominent tip of nose","Pronounced nasal tip","Pronounced tip of nose","Bulbous tip of nose","Hyperplasia of nasal tip","Hyperplasia of tip of nose","Hypertrophy of nasal tip","Hypertrophy of tip of nose"],[436]],[5275,"Cartilaginous ossification of nose",["Cartilaginous nasal ossification"],[429]],[5278,"Hypoplastic nasal tip",["Decreased size of nasal tip","Decreased size of tip of nose","Hypoplasia of tip of nose","Small nasal tip","Small tip of nose","Underdevelopment of nasal tip","Underdevelopment of tip of nose","Aplasia of nasal tip","Deficient nasal tip","Hypotrophic nasal tip","Hypotrophic tip of nose"],[436]],[5280,"Depressed nasal bridge",["Depressed bridge of nose","Depressed nasal root","Flat bridge of nose","Flat nasal bridge","Flat nasal root","Flat, nasal bridge","Flattened nasal bridge","Low nasal bridge","Low nasal root","Retruded bridge of nose","Retruded nasal bridge","Concave bridge of nose","Concave nasal bridge","Depressed nasal root/bridge"],[422]],[5281,"Hypoplastic nasal bridge",["Decreased size of bridge of nose","Decreased size of nasal bridge","Hypoplastic bridge of nose","Small bridge of nose","Small nasal bridge","Hypotrophic bridge of nose","Hypotrophic nasal bridge"],[422]],[5285,"Absent nasal bridge",["Absent bridge of nose","Agenesis of bridge of nose","Agenesis of nasal bridge","Missing bridge of nose","Missing nasal bridge"],[422]],[5288,"Abnormal nostril morphology",["Abnormal naris morphology","Abnormality of the nares","Abnormality of the nostrils","Anomaly of the nares","Deformity of the nares","Deformity of the nostrils","Malformation of the nares","Malformation of the nostrils"],[5105]],[5289,"Abnormal nasolabial region morphology",["Abnormality of the nasolabial region","Anomaly of the nasolabial region","Deformity of the nasolabial region","Malformation of the nasolabial region"],[366]],[5290,"Internal carotid artery hypoplasia",["Decreased size of internal carotid artery","Small internal carotid artery","Aplasia of internal carotid artery","Deficiency of internal carotid artery","Hypotrophic internal carotid artery"],[3000062]],[5291,"Inflammatory arteriopathy",[],[34785]],[5292,"Intimal thickening in the coronary arteries",[],[6704]],[5293,"Venous insufficiency",["Poorly functioning veins"],[2624]],[5294,"Arterial dissection",[],[11004]],[5295,"Pseudocoarctation of the aorta",[],[12303]],[5297,"Premature occlusive vascular stenosis",[],[4950]],[5300,"Nodular inflammatory vasculitis",[],[34785]],[5301,"Persistent left superior vena cava",["PLSVC"],[25575]],[5302,"Carotid artery tortuosity",["Tortuous carotid arteries"],[5116,5344]],[5303,"Aortic arch calcification",[],[4962]],[5304,"Hypoplastic pulmonary veins",["Underdeveloped lung veins"],[30968]],[5305,"Cerebral venous thrombosis",["Blood clot in cerebral vein","Cerebral thrombosis","Cerebral vein thrombosis"],[4936]],[5306,"Capillary hemangioma",["Capillary hemangiomata","Strawberry birthmark"],[1028]],[5307,"Postural hypotension with compensatory tachycardia",[],[1278]],[5308,"Pulmonary artery vasoconstriction",[],[30967]],[5310,"Large vessel vasculitis",[],[34784]],[5311,"Agenesis of pulmonary vessels",["Absent lung vessels"],[4930]],[5312,"Pulmonary aterial intimal fibrosis",[],[30966]],[5313,"Arterial fibromuscular dysplasia",[],[11004]],[5314,"Anomalous branches of internal carotid artery",[],[5344]],[5316,"Peripheral pulmonary vessel aplasia",[],[4930]],[5317,"Increased pulmonary vascular resistance",[],[30875]],[5318,"Cerebral vasculitis",[],[34784,100659]],[5320,"Lack of facial subcutaneous fat",["Lack of facial fat below the skin"],[3717]],[5321,"Mandibulofacial dysostosis",["Treacher Collins syndrome"],[4439]],[5322,"Prominent nasal septum",["Prominent septum of nose","Low hanging nasal septum","Low hanging septum of nose","Visible nasal septum","Visible septum of nose"],[419]],[5323,"Hemifacial hypertrophy",["Enlargement of half of face","Facial hemihypertophy","Hemifacial enlargement","Hypertrophy of half of face","Increase in size of half of face","Overgrowth of half of face","Facial hemihyperplasia","Friedreich's disease"],[324]],[5324,"Disturbance of facial expression",[],[5346]],[5325,"Extension of hair growth on temples to lateral eyebrow",["Unusual hairline with hair growth on temples extending to lateral eyebrow"],[599]],[5326,"Hypoplastic philtrum",["Small philtrum"],[288]],[5327,"Loss of facial expression",[],[4673]],[5328,"Progeroid facial appearance",["Aged facial appearance","Premature aged appearance","Prematurely aged face","Prematurely aged facial appearance","Wizened face"],[7495]],[5329,"Fixed facial expression",["Unchanging facial expression"],[4673]],[5332,"Recurrent mandibular subluxations",[],[277,32153]],[5335,"Sleepy facial expression",["Somnolent facial expression"],[5324]],[5336,"Forehead hyperpigmentation",["Darkening of the forehead"],[290,7400]],[5338,"Sparse lateral eyebrow",["Lateral hypoplasia of eyebrows","Lateral thinning of eyebrows","Laterally sparse eyebrow","Laterally sparse eyebrows","Limited hair on end of eyebrow","Sparse lateral eyebrows"],[45075]],[5339,"Abnormality of complement system",[],[5368]],[5340,"Spastic/hyperactive bladder",[],[9]],[5341,"Autonomic bladder dysfunction",[],[12332]],[5343,"Hypoplasia of the bladder",["Hypoplastic bladder","Underdeveloped bladder"],[10476]],[5344,"Abnormal carotid artery morphology",["Abnormality of the carotid arteries"],[11004]],[5345,"Abnormal vena cava morphology",["Abnormality of the vena cava"],[2624,30962]],[5346,"Abnormal facial expression",[],[271]],[5347,"Tracheal cartilaginous sleeve",[],[4468]],[5348,"Inspiratory stridor",[],[10307]],[5349,"Hypoplasia of the epiglottis",["Hypoplastic epiglottis"],[10565]],[5352,"Severe T-cell immunodeficiency",[],[5374]],[5353,"Recurrent herpes",["Susceptibility to herpesvirus"],[34318]],[5356,"Decreased circulating complement factor I concentration",["Decreased serum complement factor I"],[4431]],[5357,"Defective B cell differentiation",[],[5384]],[5359,"Aplasia of the thymus",["Absent thymus","Athymia","Absent thymic shadow","Lack of thymic shadow"],[10515]],[5360,"Susceptibility to chickenpox",[],[4429]],[5363,"Humoral immunodeficiency",[],[2721]],[5366,"Recurrent streptococcus pneumoniae infections",[],[2205,20096]],[5368,"Abnormality of humoral immunity",["Defective humoral immunity"],[10978]],[5369,"Decreased circulating complement factor H concentration",["Decreased serum complement factor H"],[4431]],[5372,"Abnormal B cell physiology",["Abnormality of B cell physiology","Reduced B cell function"],[31409]],[5374,"Cellular immunodeficiency",[],[2721]],[5376,"Recurrent Haemophilus influenzae infection",["Chronic Haemophilus influenzae infection","Persistent Haemophilus influenzae infection","Recurrent H. influenzae infections","Recurrent Haemophilus influenzae infections"],[5420,5210070]],[5381,"Recurrent Neisseria meningitidis infection",["Chronic menigococcal infection","Increased susceptibility to neisseria meningitidis infections","Persistent Neisseria meningitidis infection","Recurrent meningococcal disease","Recurrent meningococcal infection"],[5430,5210067]],[5384,"Defective B cell activation",[],[5372]],[5386,"Recurrent protozoan infections",[],[2719]],[5387,"Combined immunodeficiency",[],[2721]],[5389,"Depletion of components of the alternative complement pathway",[],[5482]],[5390,"Recurrent opportunistic infections",["Frequent opportunistic infections"],[2719,31690]],[5396,"Susceptibility to coronavirus 229e",[],[4429]],[5400,"Reduction of neutrophil motility",[],[11990]],[5401,"Recurrent Candida infection",["Chronic candidiasis","Frequent candida infections","Persistent Candida infection","Recurrent candida infections","Recurrent candidiasis"],[2841,5210102]],[5403,"Decreased total T cell count",["Decrease in T cell count","Decreased absolute count of circulating T cells","Low T cell count","T cell lymphopenia","T lymphocytopenia","Decreased CD3+ T cell proportion"],[5210411]],[5404,"Increased total B cell count",["B cell lymphocytosis","Increase in B cell count","Increase in B cell number","Increased number of B cells"],[10975]],[5406,"Recurrent bacterial skin infections",["Recurrent cutaneous pyogenic infections","Recurrent episodes of impetigo","Recurrent episodes of infectious dermatitis","Recurrent pyogenic skin infections"],[1581,2718]],[5411,"Chronic intestinal candidiasis",["Candida overgrowth syndrome"],[2728]],[5413,"Elevated circulating alpha-globulin concentration",[],[32311]],[5415,"Decreased total CD8+ T cell proportion",["Decreased proportion of CD8+ T cells","Decreased proportion of CD8-positive T cells","Decreased proportion of CD8-positive, alpha-beta T cells"],[5210425]],[5416,"Decreased circulating complement factor B concentration",["Decreased serum complement factor B","Decreased serum factor b"],[4431]],[5419,"Decreased T cell activation",["Decreased T lymphocyte activation","Decreased T-cell activation","Decreased T-lymphocyte activation","Defective T cell activation","Profound depletion of T4+ lymphocytes"],[410035]],[5420,"Recurrent gram-negative bacterial infections",[],[2718]],[5421,"Decreased circulating complement C3 concentration",["Decreased serum C3","Decreased serum complement C3","Decreased serum complement C3 level"],[4431]],[5422,"Absence of CD8+ T cells",["Absence of CD8-positive T cells"],[5415]],[5423,"Dysfunctional alternative complement pathway",[],[5482]],[5424,"Absent specific antibody response",[],[12475]],[5425,"Recurrent sinopulmonary infections",["Chronic sinopulmonary infection","Recurrent sinus and lung infections"],[2205]],[5428,"Severe recurrent varicella",[],[4429]],[5429,"Recurrent systemic pyogenic infections",[],[2718]],[5430,"Recurrent Neisserial infections",["Episodes of neisserial infection","Recurrent neisseria infections"],[5420]],[5432,"Transient hypogammaglobulinemia of infancy",["Newborn gammaglobulin deficiency"],[4313]],[5437,"Recurrent infections in infancy and early childhood",[],[2719]],[5439,"Maxillozygomatic hypoplasia",["Decreased size of zygomaticomaxillary bone complex","Deficiency of zygomaticomaxillary bone complex","Hypoplasia of malar bone complex","Hypoplasia of zygomaticomaxillary complex","Underdevelopment of zygomaticomaxillary bone complex","Decreased projection of zygomaticomaxillary bone complex"],[327,10669]],[5441,"Sclerotic cranial sutures",[],[11329]],[5442,"Widely patent coronal suture",[],[11329]],[5445,"Enlarged posterior fossa",["Widened posterior fossa"],[932]],[5446,"Obtuse angle of mandible",["High mandibular plane angle","Steep mandibular plane angle"],[277]],[5449,"Bridged sella turcica",[],[2681]],[5450,"Calvarial osteosclerosis",[],[5464]],[5451,"Decreased cranial base ossification",[],[4331]],[5453,"Absent/hypoplastic paranasal sinuses",[],[9120]],[5456,"Absent ethmoidal sinuses",["Agenesis of ethmoid sinuses","Failure of development of ethmoid sinuses","Missing ethmoid sinuses"],[2689,3000040]],[5458,"Premature closure of fontanelles",["Early closure of the cranial sutures","Premature closure of the cranial sutures","Early closure of the fontanelles","Obliterated fontanelles","Premature fontanel closure","Early closure of the bregma sutures","Premature closure of the bregma sutures"],[11328]],[5461,"Craniofacial disproportion",[],[1999]],[5462,"Calcification of falx cerebri",[],[2514,10653]],[5463,"Elongated sella turcica",[],[2681]],[5464,"Craniofacial osteosclerosis",["Cranial sclerosis"],[11001,11821]],[5465,"Facial hyperostosis",["Enlargement of facial bones","Enlargement of facial skeleton","Hypertrophy of facial bones","Hypertrophy of facial skeleton","Enlargement of the facial bones","Excessive growth of facial bones","Excessive growth of facial skeleton","Hyperostosis of facial bones","Hyperostosis of facial skeleton","Hypertrophy of the facial bones","Increase in size of the facial bones","Overgrowth of facial bones","Overgrowth of facial skeleton","Overgrowth of the facial bones","Increased ossification of facial bones","Increased ossification of facial skeleton"],[4493]],[5466,"Hypoplasia of the frontal bone",["Decreased size of bone of forehead","Hypoplastic frontal bones","Small bone of forehead","Underdevelopment of bone of forehead","Hypotrophic frontal bone","Hypotrophic frontal bones","Thin bone of forehead"],[2692,11218]],[5469,"Flat occiput",["Flat back of skull","Flat back of the head","Flat back of the skull","Flat posterior head","Flat posterior cranium","Posterior flattening of the skull"],[11217]],[5472,"Orbital craniosynostosis",[],[1363,3000030]],[5473,"Fusion of middle ear ossicles",["Fused ossicles"],[4452,100240]],[5474,"Decreased calvarial ossification",["Poorly ossified calvaria","Poorly ossified calvarium","Soft calvaria","Soft skullcap","Undermineralized calvarium","Skull soft on palpation"],[2683,4331]],[5476,"Widely patent sagittal suture",[],[11329]],[5477,"Progressive sclerosis of skull base",[],[2694]],[5478,"Prominent frontal sinuses",["Large frontal sinus","Hyperplasia of frontal sinus","Hypertrophy of frontal sinus","Increased size of frontal sinus","Increased volume of frontal sinus"],[2687]],[5479,"Decreased circulating IgE concentration",["Decreased IgE","Decreased circulating IgE","IgE deficiency"],[4313,410241]],[5482,"Abnormality of the alternative complement pathway",[],[5339]],[5483,"Abnormal epiglottis morphology",["Abnormality of the epiglottis"],[25423]],[5484,"Secondary microcephaly",["Development of small head that was not present at birth","Acquired microcephaly","Deceleration of head growth","Microcephaly, acquired","Microcephaly, postnatal","Postnatal deceleration of head circumference","Postnatal microcephaly"],[252]],[5486,"Small fontanelle",["Little cranial sutures","Small cranial sutures","Little fontanelle","Microfontanelle","Small soft spot","Small bregma sutures"],[11328]],[5487,"Prominent metopic ridge",["Prominent frontal ridge","Prominent metopic suture","Ridging of metopic suture","Prominent frontal suture","Ridging of frontal suture"],[5556]],[5490,"Postnatal macrocephaly",["Macrocephaly, postnatal"],[256]],[5494,"Premature posterior fontanelle closure",[],[5458]],[5495,"Metopic suture patent to nasal root",[],[5556]],[5498,"Midline skin dimples over anterior/posterior fontanelles",[],[236]],[5502,"Increased red cell osmotic fragility",["Increased erythrocyte osmotic fragility","Increased red cell fragility"],[20054]],[5505,"Refractory anemia",["Refractory anaemia"],[1903]],[5506,"Chronic myelogenous leukemia",["Chronic myelocytic leukaemia","Chronic myelocytic leukemia","Chronic myelogenous leukaemia","Chronic myeloid leukaemia","Chronic myeloid leukemia"],[5558]],[5507,"Hemoglobin Barts",["Haemoglobin Barts","Hb Barts"],[11902]],[5508,"Monoclonal elevation of circulating IgM concentration",["Waldenstrom macroglobulinemia"],[3496,5523,31047]],[5510,"Transient erythroblastopenia",["Transient decrease in blood erythrocyte number"],[1903]],[5511,"Heinz body anemia",["Heinz body anaemia"],[1878]],[5513,"Increased megakaryocyte count",[],[12143]],[5517,"T-cell lymphoma/leukemia",[],[12190]],[5518,"Increased mean corpuscular volume",["Erythrocyte macrocytosis","Increased MCV"],[25065]],[5520,"Chronic disseminated intravascular coagulation",["Chronic consumption coagulopathy","Compensated disseminated intravascular coagulation"],[5521]],[5521,"Disseminated intravascular coagulation",[],[1977]],[5522,"Pyridoxine-responsive sideroblastic anemia",["Pyridoxine-responsive sideroblastic anaemia"],[1924]],[5523,"Lymphoproliferative disorder",["Lymphoproliferative disorders"],[4377]],[5524,"Macrocytic hemolytic disease",[],[1878]],[5525,"Spontaneous hemolytic crises",[],[1878]],[5526,"Lymphoid leukemia",["Lymphoid leukaemia"],[1909]],[5527,"Reduced kininogen activity",["Fitzgerald factor deficiency","Kininogen deficiency","Williams factor deficiency","Williams-Fitzgerald-Flaujeac factor deficiency"],[5559,10989]],[5528,"Bone marrow hypocellularity",["Bone marrow failure","Bone marrow hypoplasia","Hypoplastic bone marrow","Myeloid hypoplasia"],[12145]],[5531,"Biphenotypic acute leukemia",["Acute biphenotypic leukaemia","Biphenotypic acute leukaemia","Myeloid/lymphoid leukaemia","Myeloid/lymphoid leukemia"],[2488]],[5532,"Macrocytic dyserythropoietic anemia",["Macrocytic dyserythropoietic anaemia"],[1972]],[5534,"Transient myeloproliferative syndrome",["TMD","Transient leukaemia of Down syndrome","Transient leukemia of Down syndrome","Transient myeloproliferative disorder"],[5547]],[5535,"Exercise-induced hemolysis",[],[1878]],[5537,"Decreased mean platelet volume",["Small platelet size","Small platelets","Small platelets size"],[11876]],[5539,"T cell chronic lymphocytic lymphoma/leukemia",[],[5526]],[5541,"Congenital agranulocytosis",[],[12234]],[5542,"Prolonged whole-blood clotting time",["Prolonged clotting time"],[1928]],[5543,"Reduced protein C activity",["Protein C deficiency"],[30780]],[5546,"Increased red cell osmotic resistance",[],[20054]],[5547,"Myeloproliferative disorder",[],[1909]],[5548,"Megakaryocytopenia",["Megakaryocytes decreased in bone marrow"],[12143]],[5550,"Chronic lymphatic leukemia",["Chronic lymphatic leukaemia","Chronic lymphocytic leukaemia","Chronic lymphocytic leukemia"],[5558]],[5556,"Abnormality of the metopic suture",[],[290,11329]],[5557,"Abnormal zygomatic arch morphology",["Abnormality of the malar arch","Abnormality of the zygomatic arch","Anomaly of the malar arch","Anomaly of the zygomatic arch","Deformity of the malar arch","Deformity of the zygomatic arch","Malformation of the malar arch","Malformation of the zygomatic arch"],[10668]],[5558,"Chronic leukemia",["Chronic blood cancer","Chronic leukaemia"],[1909]],[5559,"Abnormal kinin-kallikrein system component activity",[],[10876]],[5560,"Imbalanced hemoglobin synthesis",["Imbalanced Hb synthesis","Imbalanced haemoglobin synthesis"],[11902]],[5561,"Abnormal bone marrow cell morphology",["Abnormality of bone marrow cell morphology","Anomaly of the bone marrow cells","Bone marrow disease"],[1871]],[5562,"Multiple renal cysts",["Multiple kidney cysts"],[107]],[5563,"Decreased numbers of nephrons",["Oligonephronia","Decreased numbers of glomeruli"],[12575]],[5564,"Absence of renal corticomedullary differentiation",["Absent renal corticomedullary differentiation","Loss of corticomedullary differentiation"],[5932]],[5565,"Reduced renal corticomedullary differentiation",["Loss of definition of corticomedullary differentiation"],[5932]],[5567,"Renal magnesium wasting",[],[12607]],[5571,"Increased renal tubular phosphate reabsorption",["Increased percent tubular reabsorption of phosphorus"],[11038]],[5572,"Decreased renal tubular phosphate excretion",[],[11036]],[5574,"Non-acidotic proximal tubulopathy",[],[114]],[5575,"Hemolytic-uremic syndrome",["Hemolytic uremic syndrome"],[12211]],[5576,"Tubulointerstitial fibrosis",["Tubulointerstitial renal fibrosis","Tubulointerstitial scarring"],[1969,30760]],[5579,"Impaired renal tubular reabsorption of chloride",["Impaired reabsorption of Cl","Impaired reabsorption of Cl-"],[11038]],[5580,"Duplication of renal pelvis",[],[75,10944]],[5583,"Tubular basement membrane disintegration",["Disintegration of the tubular basement membrane"],[20131]],[5584,"Renal cell carcinoma",["Cancer starting in small tubes in kidneys","Hypernephroma","Renal carcinoma"],[9726]],[5585,"Spotty hyperpigmentation",["Patchy hyperpigmentation","Spotty increased pigmentation"],[7400]],[5586,"Hyperpigmentation in sun-exposed areas",["Hyperpigmentation of exposed areas","Increased pigmentation in sun-exposed areas"],[953]],[5588,"Patchy palmoplantar hyperkeratosis",["Palmoplantar keratoderma, patchy","Patchy palmoplantar keratoderma"],[972]],[5590,"Spotty hypopigmentation",["Patchy depigmentation","Patchy hypopigmentation","Spotty decreased pigmentation"],[1053]],[5592,"Giant melanosomes in melanocytes",["Macromelanosomes"],[11125]],[5593,"Macular hypopigmented whorls, streaks, and patches",[],[1053]],[5595,"Generalized hyperkeratosis",["Generalised hyperkeratosis","Hyperkeratosis, generalised","Hyperkeratosis, generalized"],[962]],[5597,"Congenital alopecia totalis",[],[7418]],[5598,"Facial telangiectasia in butterfly midface distribution",["Butterfly facial telangiectasia"],[7380]],[5599,"Hypopigmentation of hair",["Hair hypopigmentation","Loss of hair color","Loss of hair colour"],[9887]],[5600,"Congenital giant melanocytic nevus",["Giant pigmented hairy nevus","Giant pigmented mole","Giant pigmented nevus"],[995]],[5602,"Progressive vitiligo",[],[1045]],[5603,"Numerous congenital melanocytic nevi",[],[995]],[5605,"Large cafe-au-lait macules with irregular margins",[],[1034]],[5606,"Hyperpigmented nevi and streak",[],[995]],[5607,"Abnormal tracheobronchial morphology",["Tracheobronchial anomalies"],[12252]],[5608,"Bilobate gallbladder",["Bilobed gallbladder","Double gallbladder","Gallbladder duplication","Gallbladder septated"],[34504]],[5609,"Gallbladder dysfunction",[],[12438]],[5612,"Arthrogryposis-like hand anomaly",[],[5684]],[5613,"Aplasia/hypoplasia of the femur",["Absent/small thighbone","Absent/underdeveloped thighbone","Hypoplastic to absent femora","Hypoplastic/aplastic femora"],[2823,6493]],[5616,"Accelerated skeletal maturation",["Advanced bone age","Early bone maturation","Premature epiphyseal closure","Premature epiphyseal ossification","Premature fusion of the epiphyseal growth plate"],[927]],[5617,"Bilateral camptodactyly",[],[100490]],[5619,"Thoracolumbar kyphosis",["Thoracolumbar gibbus","Thoracolumbar gibbus deformity"],[2942,100712]],[5620,"Hypermobility of interphalangeal joints",["Increased mobility of hinge joints"],[430046]],[5621,"Trapezoidal vertebral body",["Trapezoidal shaped vertebral bodies","Trapezoidal vertebral bodies"],[3312]],[5622,"Broad long bones",["Wide long bones","Widened long bones"],[11314]],[5623,"Absent ossification of calvaria",["Absent bone maturation of skullcap","Absent ossification of skull vault","Acalvaria"],[5474]],[5625,"Osteoporosis of vertebrae",[],[3468,40161]],[5626,"Posterior fusion of lumbosacral vertebrae",[],[2948]],[5627,"Type D brachydactyly",["Brachydactyly type D"],[1156]],[5632,"Absent forearm",["Absent forearms"],[2973]],[5638,"Decreased anterioposterior diameter of lumbar vertebral bodies",[],[8473]],[5639,"Hyperextensible hand joints",[],[430046]],[5640,"Abnormal vertebral segmentation and fusion",[],[2948]],[5643,"Short 3rd toe",["Brachydactyly of third toes","Short third toe"],[1831]],[5645,"Intervertebral disk calcification",["Intervertebral disc calcification","Multiple intervertebral disc calcifications","Multiple intervertebral disk calcifications"],[5108,10766]],[5648,"Bilateral ulnar hypoplasia",[],[3022]],[5650,"2-5 finger cutaneous syndactyly",["Cutaneous syndactyly between fingers 2 and 5","Webbed 2nd-5th fingers"],[10554]],[5652,"Cortical sclerosis",[],[3103,11001]],[5653,"Moderate generalized osteoporosis",["Moderate generalised osteoporosis"],[40160]],[5655,"Multiple digital exostoses",[],[2762]],[5656,"Positional foot deformity",[],[1760]],[5659,"Thoracic kyphoscoliosis",[],[2943]],[5661,"Salmonella osteomyelitis",["Salmonella bone infection"],[2754]],[5665,"Massively thickened long bone cortices",[],[935]],[5667,"Os odontoideum",[],[3310]],[5671,"Bilateral intracerebral calcifications",["Bilateral intracranial calcifications"],[2514]],[5676,"Rudimentary postaxial polydactyly of hands",[],[1162]],[5678,"Anterior atlanto-occipital dislocation",[],[3414]],[5679,"Dupuytren contracture",[],[9473]],[5680,"Tongue-like lumbar vertebral deformities",[],[8430]],[5681,"Juvenile idiopathic arthritis",["Juvenile RA","Juvenile rheumatoid arthritis","Rheumatoid arthritis, juvenile"],[1370]],[5682,"Talocalcaneal synostosis",["Fusion of foot joint","Fusion of the subtalar joint"],[8368]],[5684,"Distal arthrogryposis",[],[2803]],[5686,"Patchy osteosclerosis",["Patchy increase of bone mineral density","Uneven increase in bone density"],[10658,11001]],[5687,"Deformed humeral heads",["Deformed head of long bone in upper arm"],[3871]],[5688,"Dysplastic distal thumb phalanges with a central hole",[],[9617]],[5689,"Dermatoglyphic ridges abnormal",[],[1018]],[5694,"Partial fusion of proximal row of carpal bones",["Partial fusion of innermost row of wrist bones"],[9702]],[5696,"Postaxial polydactyly type A",[],[1162]],[5700,"Increased bone density with cystic changes",[],[11001]],[5701,"Multiple enchondromatosis",[],[2763,30038]],[5707,"Bilateral triphalangeal thumbs",["Bilateral digitalized thumb"],[1199]],[5709,"2-3 toe cutaneous syndactyly",["Complete cutaneous syndactyly of second and third toes","Cutaneous 2,3 toe syndactyly","Cutaneous syndactyly of second and third toes","Webbed skin of 2nd-3rd toes"],[10621]],[5715,"Flattened knee epiphyses",["Flattened end part of knee bone"],[3071,34669]],[5716,"Lethal skeletal dysplasia",["Lethal dwarfism identifiable at birth"],[2652]],[5720,"Shortening of all metacarpals",[],[10049]],[5722,"Hyperextensible thumb",["Double jointed thumb"],[5639]],[5723,"Shoe-shaped sella turcica",[],[2681]],[5725,"Nonopposable triphalangeal thumb",[],[1199]],[5726,"Thumbs hypoplastic with bulbous tips",["Short thumbs with bulbous tips"],[9778]],[5731,"Cortical irregularity",[],[3103]],[5733,"Spinal stenosis with reduced interpedicular distance",["Spinal stenosis due to short pedicles"],[3416]],[5736,"Short tibia",["Hypoplasia of the tibia","Hypoplastic tibia","Short shinbone","Short skankbone","Short tibiae","Shortening of the shankbone","Shortening of the shinbone","Shortening of the tibia"],[3026,5772]],[5739,"Posterior subluxation of radial head",[],[3048]],[5743,"Avascular necrosis of the capital femoral epiphysis",["Osteochondrosis of the femoral head","Osteonecrosis of the femoral head","Perthes-like femoral head changes","Coxa plana","Legg-Calve-Perthes syndrome","Legg-Perthes disease","Morbus Legg-Calve-Perthes"],[10574,100323]],[5745,"Congenital foot contractures",[],[2803,5750]],[5746,"Osteosclerosis of the base of the skull",["Osteosclerosis of the skull base"],[5464]],[5747,"Easily subluxated first metacarpophalangeal joints",[],[4294]],[5750,"Lower-limb joint contracture",["Contractures of the joints of the lower limbs","Contractures, lower limbs"],[3121]],[5752,"Flattened moderately deformed vertebrae",[],[926]],[5756,"Neonatal epiphyseal stippling",["Epiphyseal stippling in neonates","Speckled calcifications in bone end parts in neonates"],[10655]],[5758,"Basilar impression",[],[932]],[5759,"Small flat posterior fossa",["Small and flat posterior fossa of skull","Small and flat posterior skull bones"],[40010,40011]],[5764,"Polyarticular arthritis",[],[5195]],[5765,"Sacral meningocele",[],[5107]],[5766,"Disproportionate shortening of the tibia",["Disproportionate shortening of the shankbone","Disproportionate shortening of the shinbone","Marked shortening of tibia"],[5736]],[5767,"1-2 toe complete cutaneous syndactyly",[],[10621]],[5768,"2-4 toe cutaneous syndactyly",["Soft tissue syndactyly of toes 2, 3, and 4","Webbed 2nd, 3rd and 4th toes","Webbed second, third and fourth toes"],[10621]],[5769,"Fifth finger distal phalanx clinodactyly",["Curvature of outermost bone of little finger","Curvature of outermost bone of pinkie finger","Curvature of outermost bone of pinky finger"],[4209,4225]],[5772,"Aplasia/Hypoplasia of the tibia",["Absent/hypoplastic tibia","Absent/small shankbone","Absent/small shinbone","Absent/underdeveloped shankbone","Absent/underdeveloped shinbone","Aplastic/hypoplastic tibia"],[2992,6493]],[5773,"Short forearm",["Hypoplasia of both radius and ulna"],[9821]],[5775,"Multiple skeletal anomalies",[],[2652]],[5776,"Carpal bone malsegmentation",[],[1191]],[5780,"Absent fourth finger distal interphalangeal crease",["No fourth finger distal interphalangeal crease"],[1032]],[5781,"Contractures of the large joints",[],[1371]],[5787,"Lumbar platyspondyly",[],[926]],[5789,"Generalized osteosclerosis",["Increased bone density in skeletal bones","Diffuse, symmetrical osteosclerosis","Generalised osteosclerosis","Osteosclerosis, diffuse symmetrical"],[11001]],[5790,"Short mandibular condyles",["Bilateral hypoplasia of condylar process of mandible","Bilateral hypoplasia of mandibular condylar head","Bilateral hypoplasia of mandibular condylar neck","Decreased height of condylar process of mandible","Decreased length of condylar process of mandible","Short condylar process of mandible","Short condylar head of mandible","Short condylar neck of mandible"],[3778,3000077]],[5791,"Cortical thickening of long bone diaphyses",[],[935,940]],[5792,"Short humerus",["Humeral hypoplasia","Humeral shortening","Hypoplastic humerus","Short humeri","Short long bone of upper arm","Short upper arms"],[3026,6507]],[5793,"Shortening of all distal phalanges of the toes",["Shortening of all outermost bone of the toes"],[1857]],[5798,"Posterior radial head dislocation",[],[3083]],[5802,"Coalescence of tarsal bones",[],[8368]],[5815,"Supernumerary ribs",["Extra ribs"],[772,9144]],[5817,"Postaxial polysyndactyly of foot",[],[1830]],[5819,"Short middle phalanx of finger",["Brachymesophalangy","Disproportionately short middle phalanges","Hypoplasia of the middle phalanges of the hand","Hypoplastic middle phalanges","Hypoplastic middle phalanx","Midphalangeal hypoplasia","Short middle bone of finger","Short middle phalanges","Shortened middle finger bones"],[9381,9803,9843]],[5820,"Superior rib anomalies",[],[772]],[5824,"Clinodactyly of the 2nd toe",["Curvature of 2nd toe","Clinodactyly of second toes"],[1863,10326]],[5825,"Mixed sclerosis of humeral metaphyses",[],[3918]],[5828,"Transient pulmonary infiltrates",[],[2113]],[5829,"Maldevelopment of radioulnar joint",[],[3059]],[5830,"Flexion contracture of toe",["Contractures involving the toes","Contractures of the toes","Toe contractures"],[8366,30044,34675]],[5831,"Type B brachydactyly",[],[1156]],[5832,"Dysharmonic delayed bone age",[],[2750,200000]],[5841,"Calcific stippling of infantile cartilaginous skeleton",[],[3336]],[5844,"Rounded middle phalanx of finger",["Rounded middle bone of finger"],[9833]],[5849,"Diffuse cerebral calcification",[],[2514]],[5850,"Congenital talipes calcaneovalgus",[],[1884]],[5852,"Limited elbow extension and supination",[],[1377]],[5853,"Congenital foot contraction deformities",[],[2803]],[5855,"Multiple prenatal fractures",["Congenital bone fractures","Multiple fractures present at birth","Multiple fractures, present at birth","Numerous multiple fractures present at birth","Numerous multiple fractures that are present at birth"],[2659]],[5856,"Ulnar radial head dislocation",["Ulnar dislocation of radial heads"],[3083]],[5857,"Cervical spina bifida",[],[2414]],[5863,"Type E brachydactyly",[],[1156]],[5864,"Pseudoarthrosis",["Pseudoarthroses"],[11314]],[5866,"Opposable triphalangeal thumb",[],[1199]],[5867,"4-5 metacarpal synostosis",["Fused 4th-5th long bones of hand","Fused 4th-5th metacarpals","Fused fourth and fifth metacarpals","Ring finger and little finger metacarpal synostosis","Synostosis of the fourth and fifth metacarpal bones"],[9707,9708]],[5868,"Metaphyseal enchondromatosis",[],[944]],[5871,"Metaphyseal chondrodysplasia",[],[100255]],[5872,"Brachytelomesophalangy",["Progressive brachydactyly of middle and distal phalanges","Short middle and distal phalanges of digits ii through v"],[1156]],[5873,"Polysyndactyly of hallux",["Polysyndactyly of big toe","Polysyndactyly of great toe"],[1841]],[5875,"Increased dermatoglyphic whorls",[],[1018]],[5876,"Progressive flexion contractures",["Joint contractures, progressive"],[1371]],[5877,"Multiple small vertebral fractures",[],[3468]],[5878,"Enlarged sagittal diameter of the cervical canal",[],[3319]],[5879,"Congenital finger flexion contractures",["Congenital finger contractures"],[2803,100490]],[5880,"Metacarpophalangeal synostosis",["Fused long bone of hand with innermost finger bone"],[9701,11911]],[5881,"Spinal instability",[],[925]],[5882,"Dermatoglyphic variants",[],[1018]],[5885,"Absent ossification of cervical vertebral bodies",[],[4599]],[5886,"Aphalangy of the hands",[],[9767]],[5890,"Hyperostosis cranialis interna",["Enlargement of the inner surface of the skull bones","Hypertrophy of the internal surface of the cranial bones","Increased ossification of the internal surface of the cranial bones","Overgrowth of the inside of the skull","Thick inner surface of the skull bones","Thick internal surface of the cranial bones","Excessive growth of inner surface of the skull bones","Hyperostosis of the internal surface of the cranial bone","Hyperostosis of the internal surface of the cranial bones","Overgrowth of the inner surface of the skull bones"],[4437]],[5891,"Progressive forearm bowing",["Progressive forearm curvature"],[3956,6383]],[5892,"Proximal tibial and fibular fusion",["Fusion of innermost shinbone and calf bone","Proximal tibiofibular synostosis"],[5928,5929]],[5894,"Double first metacarpals",["Double 1st long bones of hand"],[5917]],[5895,"Radial deviation of thumb terminal phalanx",[],[9617]],[5897,"Severe generalized osteoporosis",["Severe generalised osteoporosis","Severe, generalised osteoporosis","Severe, generalized osteoporosis"],[40160]],[5900,"Fifth metacarpal with ulnar notch",["Fifth metacarpal notched on ulnar side"],[10013]],[5905,"Abnormal cervical curvature",["Abnormal neck curve"],[10674,46508]],[5906,"Delayed pneumatization of the mastoid process",["Mastoid processes poorly pneumatized"],[264]],[5910,"Rhomboid or triangular shaped 5th finger middle phalanx",["Rhomboid or triangular shaped fifth finger middle phalanx"],[9182]],[5912,"Biliary atresia",["Atresia of bile ducts","Biliary duct atresia"],[12440]],[5913,"Abnormal metacarpal epiphysis morphology",["Abnormality of end part of long bone of hand","Abnormality of metacarpal epiphyses"],[5916,5924]],[5914,"Aplasia/Hypoplasia involving the metacarpal bones",["Absent or hypoplastic metacarpals","Absent/small long bones of hand","Absent/underdeveloped long bones of hand","Aplastic/hypoplastic metacarpals","Hypoplastic metacarpals","Hypoplastic/absent metacarpal bones","Hypoplastic/absent metacarpals","Metacarpal aplasia/hypoplasia"],[5916,5927]],[5916,"Abnormal metacarpal morphology",["Abnormal shape of long bones of hand","Abnormal shape of metacarpal bones"],[5922,40070]],[5917,"Supernumerary metacarpal bones",["Extra long bones of hand"],[5916]],[5918,"Abnormal finger phalanx morphology",["Abnormal form of phalanges of the hand","Abnormality of phalanx of finger","Abnormality of the finger bones","Abnormality of the phalanges","Abnormality of the phalanges of the hand"],[1167]],[5920,"Abnormal epiphysis morphology of the phalanges of the hand",[],[5918,5924]],[5922,"Abnormal hand morphology",["Abnormal shape of hand"],[1155]],[5923,"Abnormal hand metaphysis morphology",["Abnormalities of the metaphyses of the hand","Abnormality of the wide portion of the hand bone"],[5922,9809]],[5924,"Abnormal hand epiphysis morphology",["Abnormality of the end part of the hand bone","Abnormality of the end part of the hand bones","Abnormality of the epiphyses of the fingers","Abnormality of the epiphyses of the hand","Abnormality of the epiphyses of the phalanges of the hand"],[3839,5922]],[5925,"Abnormal hand diaphysis morphology",["Abnormalities of shaft of long bone of the hand","Abnormalities of the diaphyses of the hand"],[5922,9808]],[5926,"Abnormal hand cortical bone morphology",["Abnormality of hand cortical bone","Abnormality of the cortex of hand bones"],[3103,5922]],[5927,"Aplasia/hypoplasia involving bones of the hand",["Absent/small hand bones","Absent/underdeveloped hand bones","Hypoplasia/absence of hand bones"],[5922,6496]],[5928,"Synostosis involving the fibula",["Bone fusion involving the calf bones"],[2991,9138]],[5929,"Synostosis involving the tibia",["Bone fusion involving the shinbone"],[2992,9138]],[5930,"Abnormal epiphysis morphology",["Abnormal shape of end part of bone","Abnormality of epiphysis morphology","Abnormality of the epiphyses","Anomaly of the epiphyses","Epiphyseal abnormality"],[11314]],[5932,"Abnormal renal corticomedullary differentiation",[],[11035,100957]],[5934,"Imperfect vocal cord adduction",[],[31801]],[5938,"Abnormal respiratory motile cilium morphology",[],[12253]],[5939,"Multiple bilateral pneumothoraces",[],[2107]],[5941,"Intermittent hyperpnea at rest",[],[4879]],[5942,"Desquamative interstitial pneumonitis",["Filling of the alveoli with alveolar macrophages","Filling of the alveoli with desquamated epithelial cells","Intra-alveolar accumulation of macrophages"],[6530]],[5943,"Respiratory arrest",["Breathing cessation"],[2093]],[5944,"Bilateral lung agenesis",["Absent lungs","Bilateral pulmonary agenesis"],[6703]],[5945,"Laryngeal obstruction",[],[25423]],[5946,"Ventilator dependence with inability to wean",[],[4887]],[5947,"Decreased sensitivity to hypoxemia",["Decreased sensitivity to hypoxaemia"],[5957]],[5948,"Multiple pulmonary cysts",["Cystic lung disease","Multiple lung cysts"],[32445]],[5949,"Apneic episodes in infancy",[],[2104]],[5950,"Laryngeal web",["Laryngeal webs","Partial laryngeal atresia","Glottic web"],[25423]],[5951,"Progressive inspiratory stridor",[],[5348]],[5954,"Pulmonary capillary hemangiomatosis",["Pulmonary hemangiomas"],[4930,5306,7461]],[5956,"Anteroposteriorly shortened larynx",[],[25423]],[5957,"Breathing dysregulation",[],[2795]],[5959,"Impaired gluconeogenesis",["Gluconeogenesis impaired"],[11014]],[5961,"Hypoargininemia",["Decreased arginine concentration","Decreased arginine level","Decreased arginine level in blood","Low blood arginine levels","Reduced arginine concentration","Reduced arginine level","Reduced arginine level in blood","Arginine deficiency"],[10909]],[5964,"Intermittent hypothermia",["Intermittent abnormally low body temperature"],[2045]],[5967,"Mixed respiratory and metabolic acidosis",[],[1942]],[5968,"Temperature instability",["Body temperature instability"],[4370]],[5972,"Respiratory acidosis",[],[1941]],[5973,"Fructose intolerance",["Fructose malabsorption"],[11033]],[5974,"Episodic ketoacidosis",["Ketoacidosis, episodic"],[1993]],[5976,"Hyperkalemic metabolic acidosis",[],[1942]],[5977,"Hypochloremic metabolic alkalosis",[],[1948]],[5978,"Type II diabetes mellitus",["Diabetes mellitus Type II","Diabetes mellitus, noninsulin-dependent","NIDDM","NIDDM diabetes mellitus","Non-insulin dependent diabetes","Noninsulin dependent diabetes mellitus","Noninsulin-dependent diabetes","Type 2 diabetes","Type II diabetes","Diabetes mellitus type 2","Noninsulin-dependent diabetes mellitus"],[819]],[5979,"Metabolic ketoacidosis",["Starvation ketoacidosis"],[1942,1993]],[5982,"Reduced phenylalanine hydroxylase level",["Phenylalanine hydroxylase deficiency"],[12379]],[5986,"Limitation of neck motion",["Limited neck mobility","Restricted neck movement"],[25669]],[5987,"Multinodular goiter",["Multinodular goitre"],[5994]],[5988,"Congenital muscular torticollis",["Torticollis, congenital"],[11006]],[5989,"Redundant neck skin",["Excess neck skin","Excess skin over the neck","Excessive nuchal skin","Redundant nuchal skin","Redundant skin folds of neck","Redundant skin over the neck"],[1582,25668]],[5990,"Thyroid hypoplasia",["Hypoplastic thyroid","Small thyroid gland"],[33079]],[5991,"Limited neck flexion",["Limited cervical flexion","Limited neck flexibility"],[5986]],[5994,"Nodular goiter",["Nodular goitre"],[853]],[5995,"Decreased adipose tissue around neck",["Loss of adipose tissue around the neck","Loss of fat around neck"],[3758]],[5997,"Neck joint contracture",["Restricted neck mobility due to contractures","Restricted neck movement due to contractures"],[5986,34392]],[5999,"Ureteral atresia",[],[25633]],[6000,"Ureteral obstruction",[],[25634]],[6006,"Hypotrophy of the small hand muscles",["Degeneration of small hand muscles"],[1421]],[6008,"Unilateral brachydactyly",["Short digits on one side"],[1156]],[6009,"Broad phalanx",["Broad phalanges","Wide digital bones","Wide phalanges","Widened phalanges"],[5622,11297]],[6011,"Cuboidal metacarpal",["Short, cube shaped long bone of hand"],[10049]],[6012,"Widened metacarpal shaft",["Broad shaft of long bone of hand"],[5916]],[6014,"Abnormally shaped carpal bones",["Abnormally shaped wrist bones"],[1191]],[6016,"Delayed phalangeal epiphyseal ossification",["Delayed phalangeal epiphyseal bone maturation","Delayed bone maturation of end part of digital bone"],[2663]],[6019,"Reduced proximal interphalangeal joint space",["Decreased space in hinge joint"],[6261]],[6026,"Rounded epiphyses",["Rounded end part of bone"],[5924]],[6028,"Metaphyseal cupping of metacarpals",["Cupping of wide portion of long bone of hand","Metacarpal/metaphyseal cupping"],[3021]],[6035,"Cone-shaped epiphyses of phalanges 2 to 5",["Cone-shaped end part of digital bones 2 to 5"],[10230]],[6040,"Long second metacarpal",["Long 2nd long bone of hand"],[10036]],[6042,"Y-shaped metacarpals",["Y-shaped long bone of hand"],[5916]],[6045,"Short pointed phalanges",["Short pointed digital bones"],[9803]],[6048,"Distal widening of metacarpals",["Wide outermost end of long bone"],[5916]],[6051,"Metacarpal periosteal thickening",[],[5916,30313]],[6055,"Ulnar deviated club hands",[],[9487]],[6059,"Cone-shaped metacarpal epiphyses",["Cone-shaped end part of long bone","Metacarpal cone-shaped epiphyses"],[5913,10579]],[6060,"Tombstone-shaped proximal phalanges",["Tombstone-shaped innermost digital bones"],[9834]],[6064,"Limited interphalangeal movement",["Limited movement of hinge joints"],[1376,6261]],[6067,"Multiple carpal ossification centers",["Multiple carpal ossification centres"],[6257]],[6070,"Metacarpophalangeal joint contracture",["Metacarpal/phalangeal joint contractures"],[11911]],[6077,"Absent proximal finger flexion creases",[],[6109]],[6086,"Thin metacarpal cortices",[],[5916]],[6088,"1-5 finger complete cutaneous syndactyly",[],[10554]],[6089,"Palmar hyperhidrosis",["Excessive sweating of hands"],[975,40211]],[6092,"Malaligned carpal bone",["Incorrect alignment of wrist bone"],[1191]],[6094,"Finger joint hypermobility",["Increased mobility in finger joint"],[1167,6256,430046]],[6095,"Wide tufts of distal phalanges",["Wide tips of outermost digital bone"],[6200]],[6097,"3-4 finger osseus syndactyly",["Partial or complete syndactyly 3rd-4th fingers","Webbed 3rd-4th finger","Webbed 3rd-4th fingers"],[10492]],[6099,"Metacarpophalangeal joint hyperextensibility",[],[11911]],[6101,"Finger syndactyly",["Partial syndactyly"],[1159]],[6106,"Absent trapezoid bone",[],[4256]],[6107,"Fingerpad telangiectases",["Finger pad telangiectases","Small dilated blood vessels in fingerpads"],[100585]],[6108,"Tapered metacarpals",["Tapered long bones of hand"],[5916]],[6109,"Absent phalangeal crease",["Absent interphalangeal creases","Aplasia of the interphalangeal creases"],[6143]],[6110,"Shortening of all middle phalanges of the fingers",[],[5819]],[6112,"Expanded phalanges with widened medullary cavities",[],[9768]],[6114,"Multiple palmar creases",["Multiple palm lines"],[10490]],[6118,"Shortening of all distal phalanges of the fingers",["Shortening of all outermost bones of the fingers","Brachytelephalangy"],[9882]],[6119,"Proximal tapering of metacarpals",["Pointed innermost long bone of hand","Pointed proximal metacarpals"],[5916]],[6121,"Acral ulceration",[],[31917]],[6127,"Long proximal phalanx of finger",["Long innermost finger bone"],[6155,9834]],[6129,"Drumstick terminal phalanges",["Drumstick shaped digital bones"],[9832]],[6134,"Enlarged metacarpal epiphyses",["Enlarged end part of long bone of hand"],[5913,10580]],[6135,"Decreased finger mobility",["Decreased finger movement"],[6256]],[6136,"Bilateral postaxial polydactyly",[],[1162]],[6140,"Premature fusion of phalangeal epiphyses",["Premature fusion of end part of digital bone"],[5920,10656]],[6143,"Abnormal finger flexion crease",["Abnormal finger flexion creases"],[1167]],[6144,"Shortening of all proximal phalanges of the fingers",["Shortening of all innermost bones of the fingers"],[10241]],[6145,"Central Y-shaped metacarpal",["Y-shaped central long bones of hand"],[6042]],[6146,"Broad metacarpal epiphyses",["Broad end part of long bone of hand"],[5913]],[6147,"Progressive fusion 2nd-5th proximal interphalangeal joints",[],[9700]],[6149,"Increased laxity of fingers",[],[6094]],[6150,"Swan neck-like deformities of the fingers",[],[1167]],[6152,"Proximal finger symphalangism",["Fused innermost hinge joints","Proximal interphalangeal joint synostoses","Proximal symphalangism of hands"],[9700,100264]],[6155,"Long phalanx of finger",["Long finger bone"],[5918]],[6156,"Ulnar deviation of thumb",["Curved thumb deviated towards palm","Ulnar deviation of the 1st finger"],[9465,9603]],[6157,"Prominent palmar flexion creases",["Prominent life line"],[10490]],[6159,"Mesoaxial hand polydactyly",["Interdigital finger polydactyly","Central hand polydactyly"],[1161,100260]],[6160,"Irregular metacarpals",["Irregular long bones of hand"],[5916]],[6161,"Short metacarpals with rounded proximal ends",["Short long bone of hand with rounded innermost ends"],[10049]],[6162,"Soft tissue swelling of interphalangeal joints",["Soft tissue swelling of hinge joints"],[6261]],[6163,"Enlarged metacarpophalangeal joints",[],[6261]],[6165,"Proportionate shortening of all digits",[],[6265]],[6166,"Tubular metacarpal bones",["Cylindrical shaped long bones of hand"],[5916]],[6167,"Prominent proximal interphalangeal joints",["Prominent innermost hinge joints"],[6237]],[6169,"Decreased mobility 3rd-5th fingers",[],[6135]],[6170,"Chess-pawn distal phalanges",["Chess-pawn shaped outermost bone"],[9832]],[6172,"Flattened, squared-off epiphyses of tubular bones",["Flattened, squared-off end part of tubular bones"],[3053,3071]],[6174,"Metacarpal diaphyseal endosteal sclerosis",[],[5916,11001]],[6175,"Proximal phalangeal periosteal thickening",["Thickening of connective tissue of innermost finger bone"],[9834,30313]],[6176,"Two carpal ossification centers present at birth",["Two carpal ossification centres present at birth"],[6257]],[6179,"Pseudoepiphyses of second metacarpal",["Extra bone on end of second long bone of hand","Pseudoepiphysis of the 2nd metacarpal"],[9193,10220]],[6180,"Crowded carpal bones",["Crowded wrist bones"],[1191]],[6184,"Decreased palmar creases",["Hypoplastic palmar creases","Poorly formed palmar creases","Shallow palm line","Shallow palmar creases"],[10488]],[6185,"Enlarged proximal interphalangeal joints",["Enlarged innermost hinge joint"],[6247]],[6189,"Prominent interdigital folds",[],[1018]],[6190,"Radially deviated wrists",[],[9486]],[6191,"Deep palmar crease",["Deep palm line","Deep palmar creases"],[10490]],[6192,"Tapered phalanx of finger",["Tapered finger bone"],[5918]],[6193,"Thimble-shaped middle phalanges of hand",["Thimble-shaped middle bones of hand"],[9833]],[6200,"Widened distal phalanges",["Widened outermost bone of limb"],[6009]],[6201,"Hypermobility of distal interphalangeal joints",["Increased mobility of outermost hinge joint"],[5620]],[6202,"Osteolysis of scaphoids",[],[4243,9699]],[6203,"Decreased movement range in interphalangeal joints",["Decreased range of movement range in hinge joints"],[1376,6135]],[6205,"Irregular phalanges",["Irregular finger bones"],[5918]],[6206,"Hypersegmentation of proximal phalanx of second finger",[],[9544]],[6207,"Partial fusion of carpals",[],[9702]],[6208,"Metaphyseal cupping of proximal phalanges",[],[3021]],[6209,"Partial-complete absence of 5th phalanges",["Partial-complete absence of 5th digital bone"],[6262]],[6210,"Postaxial oligodactyly",[],[9380]],[6213,"Thin proximal phalanges with broad epiphyses of the hand",["Thin proximal phalanges with broad epiphyses","Thin innermost bone with broad end part of the hand bone"],[5920,9834]],[6216,"Single interphalangeal crease of fifth finger",["Fifth finger single interphalangeal crease"],[6109]],[6217,"Limited mobility of proximal interphalangeal joint",["Limited mobility of innermost hinge joint"],[6261]],[6224,"Tapering pointed ends of distal finger phalanges",[],[9884]],[6226,"Osteoarthritis of the first carpometacarpal joint",[],[4268]],[6228,"Valgus hand deformity",[],[5922]],[6230,"Unilateral oligodactyly",[],[9380]],[6232,"Expanded metacarpals with widened medullary cavities",[],[5916]],[6233,"Osteoarthritis of the distal interphalangeal joint",[],[4268]],[6234,"Osteolysis involving tarsal bones",["Tarsal bone osteolysis","Tarsal osteolysis"],[1850,9134]],[6236,"Slender metacarpals",["Slender long bones of hand"],[5916]],[6237,"Prominent interphalangeal joints",["Prominent hinge joints"],[6261]],[6239,"Shortening of all middle phalanges of the toes",["Brachymesophalangy of feet","Shortening of all the middle bones of the toes"],[3795]],[6243,"Phalangeal dislocation",[],[1373,5918]],[6247,"Enlarged interphalangeal joints",["Enlarged hinge joints"],[3037,6261]],[6248,"Limited wrist movement",["Limited movement of the wrist"],[1376,25799]],[6251,"Limited wrist extension",[],[6248]],[6252,"Interphalangeal joint erosions",[],[6261]],[6253,"Swelling of proximal interphalangeal joints",["Swelling of innermost hinge joints"],[6261]],[6254,"Elevated circulating alpha-fetoprotein concentration",["Elevated alpha-fetoprotein concentration","Elevated alpha-fetoprotein level","Elevated alpha-fetoprotein level in blood","Increased alpha-fetoprotein concentration","Increased alpha-fetoprotein level","Increased alpha-fetoprotein level in blood","Increased levels of alpha fetoprotein","Increased serum alpha-fetoprotein","Serum alpha-fetoprotein increased","Alpha fetoprotein abnormal"],[45056]],[6256,"Abnormality of hand joint mobility",[],[1155,11729]],[6257,"Abnormality of carpal bone ossification",["Abnormal wrist bone maturation"],[1191,10660]],[6261,"Abnormal phalangeal joint morphology of the hand",["Abnormality of phalangeal joints of the hand","Abnormality of the small joints of the hand"],[5918]],[6262,"Aplasia/Hypoplasia of the 5th finger",["Absent/small little finger","Absent/small pinkie finger","Absent/small pinky finger","Absent/underdeveloped little finger","Absent/underdeveloped pinkie finger","Absent/underdeveloped pinky finger"],[4207,6265]],[6263,"Abnormality of the epiphyses of the 2nd finger",["Abnormality of the end part of the index finger bone"],[4100,5920]],[6264,"Aplasia/Hypoplasia of the 2nd finger",["Absent/small index finger","Absent/underdeveloped index finger"],[4100,6265]],[6265,"Aplasia/Hypoplasia of fingers",["Absent/small fingers","Absent/underdeveloped fingers"],[1167,5927]],[6266,"Small placenta",[],[12767]],[6267,"Large placenta",["Placental enlargement"],[12767]],[6268,"Fluctuating splenomegaly",[],[1744]],[6270,"Hypoplastic spleen",["Underdeveloped spleen"],[10451]],[6273,"Pancreatic lymphangiectasis",[],[12090,31842]],[6274,"Reduced pancreatic beta cells",[],[6476]],[6276,"Hyperechogenic pancreas",[],[12090]],[6277,"Pancreatic hyperplasia",[],[12094]],[6278,"Ectopic pancreatic tissue",["Abnormal pancreas location"],[12090]],[6279,"Beta-cell dysfunction",[],[6476]],[6280,"Chronic pancreatitis",["Chronic pancreas inflammation"],[1733]],[6282,"Generalized hypoplasia of dental enamel",["Generalised hypoplasia of dental enamel","Generalised hypoplasia of tooth enamel","Generalized hypoplasia of tooth enamel","Generalised dysplasia of tooth enamel","Generalized dysplasia of tooth enamel"],[6297]],[6283,"Multiple unerupted teeth",["Failure of eruption of multiple teeth","Multiple non-erupting teeth"],[706]],[6285,"Enamel hypomineralization",["Decreased enamel mineralisation","Hypomineralization of enamel","Mottled tooth enamel","Poorly mineralized tooth enamel","Increased porosity of tooth enamel","Fluorosis of tooth enamel","White spot lesions of tooth enamel"],[682]],[6286,"Yellow-brown discoloration of the teeth",["Yellow-brown discolored teeth","Yellow-brown discoloured teeth","Yellow-brown tooth shade"],[11073]],[6288,"Advanced eruption of teeth",["Advanced dental eruption","Advanced tooth eruption","Early dental eruption","Early eruption of teeth","Eruption, advanced","Premature dental eruption","Premature eruption of teeth","Premature tooth eruption"],[6292]],[6289,"Agenesis of central incisor",["Absent central incisor","Failure of development of central incisor","Absent central incisors","Missing central incisors"],[6485]],[6290,"Discolored lateral incisors",["Abnormality of color of front teeth","Abnormality of color of lateral incisor","Abnormality of colour of front teeth","Abnormality of colour of lateral incisor","Abnormality of shade of lateral incisor","Discolored front teeth","Discoloured front teeth","Discoloured lateral incisors"],[11063]],[6291,"Marked delay in eruption of permanent teeth",["Severe delay of eruption of adult teeth","Severe delay of eruption of permanent teeth","Very late eruption of adult teeth","Very late eruption of permanent teeth"],[696]],[6292,"Abnormality of dental eruption",["Abnormal dental eruption","Abnormality of tooth eruption","Anomaly of dental eruption","Anomaly of tooth eruption","Disorder of dental eruption","Disorder of tooth eruption","Disturbance of dental eruption","Disturbance of tooth eruption"],[20354]],[6293,"Agenesis of maxillary central incisor",["Failure of development of maxillary central incisor","Absence of maxillary central incisor","Missing maxillary central incisor","Missing upper central incisor"],[6289,200160]],[6297,"Enamel hypoplasia",["Defective enamel matrix","Thin dental enamel","Thin tooth enamel","Dental enamel hypoplasia","Enamel hypotrophy","Enamel, underdeveloped","Hypoplasia of dental enamel","Hypoplasia of tooth enamel","Underdeveloped teeth enamel","Dysplasia of tooth enamel","Enamel dysplasia"],[682,685]],[6298,"Prolonged bleeding after dental extraction",[],[11890]],[6302,"Dagger-shaped pulp calcifications",["Dagger shaped pulp denticles","Dagger shaped pulp stones"],[3771]],[6304,"Widely-spaced incisors",["Anterior diastema of teeth","Gap between front teeth","Widely spaced front teeth","Diastema between front teeth","Diastema between incisors"],[699,40159]],[6308,"Atrophy of alveolar ridges",["Atrophy of alveolar margins","Atrophy of alveolar processes of jaw","Resorption of alveolar margins","Resorption of alveolar processes of jaw","Resorption of alveolar ridges","Shrinking of alveolar ridges","Shrinking of gum ridges","Alveolar bone loss","Flattening of alveolar margin","Flattening of alveolar processes of jaw","Flattening of alveolar ridges","Flattening of gum ridges"],[6477]],[6311,"Generalized microdontia",["Decreased size of all teeth","Hypotrophy of all teeth","Tooth mass insufficiency","Decreased tooth mass","Decreased width of all teeth","Generalised microdontia"],[691]],[6313,"Widely spaced primary teeth",["Generalised spacing of primary teeth","Generalized spacing of primary teeth","Wide gaps between baby teeth","Wide gaps between primary teeth","Widely spaced baby teeth","Widely spaced deciduous teeth","Widely spaced milk teeth"],[687,6481]],[6315,"Solitary median maxillary central incisor",["Only one upper front tooth","Single central incisor","Single central upper incisor","Single maxillary central incisor","Single median incisor","Single median maxillary incisor","Single midline maxillary incisor","Single midline upper front tooth","Solitary midline maxillary central incisor","Solitary median maxillary central incisor syndrome"],[11064]],[6316,"Irregularly spaced teeth",["Irregular dental spacing","Variability of dental spacing","Variability of spacing between teeth"],[692]],[6321,"Multiple non-erupting secondary teeth",["Failure of eruption of multiple adult teeth","Failure of eruption of multiple permanent teeth","Multiple non-erupting adult teeth","Multiple non-erupting permanent teeth","Multiple unerupted adult teeth","Multiple unerupted permanent teeth"],[696]],[6323,"Premature loss of primary teeth",["Early loss of baby teeth","Early loss of deciduous teeth","Early loss of primary teeth","Premature deciduous tooth loss","Premature loss of baby teeth","Premature loss of deciduous teeth","Premature exfoliation of deciduous teeth","Premature exfoliation of primary teeth"],[6480,6481]],[6326,"Buried teeth encased in mucopolysaccharide",["Failure of dental eruption due to mucopolysaccharidoses","Failure of tooth eruption due to mucopolysaccharidoses","Impacted teeth due to mucopolysaccharidoses","Unerupted dentition due to mucopolysaccharidoses","Unerupted teeth due to mucopolysaccharidoses"],[6482]],[6329,"Alveolar process hypoplasia",["Decreased size of alveolar process of jaw","Decreased size of alveolar ridge","Hypoplasia of alveolar ridge","Hypoplastic alveolar bone","Small alveolar process of jaw","Small alveolar ridge","Underdevelopment of alveolar process of jaw","Underdevelopment of alveolar ridge","Deficiency of alveolar process of jaw","Deficiency of alveolar ridge","Hypotrophic alveolar process of jaw","Hypotrophic alveolar ridge"],[6477]],[6330,"Rotated maxillary central incisors",["Rotated upper central incisors","Rotated upper front teeth","Turned upper front teeth","Twisted upper front teeth"],[11062]],[6332,"Supernumerary maxillary incisor",["Extra upper front tooth"],[11064,11069]],[6333,"Crowded maxillary incisors",["Crowded upper front teeth","Crowded upper incisors","Overlapped maxillary incisors","Overlapped upper front teeth"],[11062]],[6335,"Persistence of primary teeth",["Deciduous teeth retention","Delayed loss of baby teeth","Delayed loss of deciduous teeth","Delayed loss of primary teeth","Failure to exfoliate deciduous teeth","Failure to exfoliate primary teeth","Failure to lose baby teeth","Persistence of deciduous teeth","Persistent deciduous dentition","Persistent primary dentition","Persistent primary teeth","Retained baby teeth","Retained deciduous teeth","Retained primary teeth"],[6292,6481]],[6336,"Short dental root",["Underdeveloped tooth roots","Decreased length of dental roots","Decreased length of tooth roots","Dental root hypoplasia","Dental root hypotrophy","Rhizomicry","Root dwarfism","Short dental roots","Short tooth roots","Underdeveloped dental roots"],[40220]],[6337,"Premature eruption of permanent teeth",["Early eruption of adult teeth","Early eruption of permanent teeth","Precocious eruption of secondary dentition","Precocious eruption of secondary teeth","Premature eruption of adult teeth"],[6288]],[6338,"Malformation of mandibular premolar",["Malformation of lower premolar","Malformation of mandibular bicuspid"],[11080]],[6339,"Conical mandibular incisor",["Cone shaped lower front tooth","Conoid mandibular incisor","Lower front shark tooth","Peg shaped lower front tooth","Peg shaped mandibular incisor","Pointed mandibular incisor","Pointed mandibular incisors"],[11065]],[6342,"Peg-shaped maxillary lateral incisors",["Peg laterals","Peg shaped upper lateral incisors","Cone shaped upper lateral incisors","Conical maxillary lateral incisors","Conoid upper lateral incisors","Pointed upper lateral incisors"],[11065]],[6344,"Abnormal primary molar morphology",["Abnormality of deciduous molar morphology","Abnormality of primary molar morphology","Abnormality of shape of baby molar","Abnormality of shape of primary molar"],[6481,11070]],[6346,"Screwdriver-shaped incisors",["Screwdriver shaped front teeth"],[11063]],[6347,"Microdontia of primary teeth",["Decreased size of primary tooth","Decreased width of baby teeth","Decreased width of deciduous teeth","Decreased width of milk teeth","Decreased width of primary tooth","Microdontia of deciduous teeth","Small deciduous teeth","Underdevelopment of primary teeth"],[691,6481]],[6349,"Agenesis of permanent teeth",["Absence of adult teeth","Absence of permanent teeth","Absence of secondary dentition","Absent permanent teeth","Agenesis of permanent dentition","Agenesis of secondary dentition","Failure of development of permanent teeth","Failure of development of secondary teeth","Missing permanent teeth","No permanent dentition"],[9804,11044]],[6350,"Pulp obliteration",["Obliteration of the pulp chamber","Pulp canal obliteration","Reduced size of pulp chamber of tooth","Small pulp chamber of tooth","Narrowing of pulp chamber of tooth","Crescent/chevron-shaped pulp chambers"],[6479]],[6352,"Failure of eruption of permanent teeth",["Unerupted adult dentition","Unerupted adult teeth","Unerupted permanent dentition","Unerupted permanent teeth","Failure of eruption of adult teeth"],[706]],[6353,"Hypoplasia of the tooth germ",["Underdevelopment of tooth bud","Underdevelopment of tooth germ","Decreased size of tooth bud","Decreased size of tooth germ","Hypotrophic tooth germ","Small tooth bud","Small tooth germ","Hypoplastic tooth buds"],[685]],[6355,"Agenesis of mandibular central incisor",["Failure of development of mandibular central incisor","Absence of lower central incisor","Absence of mandibular central incisor","Missing lower central incisor","Missing mandibular central incisor"],[6289,200161]],[6357,"Premature loss of permanent teeth",["Early loss of adult teeth","Early loss of permanent teeth","Early loss of secondary dentition","Premature loss of adult teeth","Premature loss of secondary teeth"],[6480]],[6358,"Shovel-shaped maxillary central incisors",["Shovel tooth","Shovel-shaped upper front teeth"],[11063]],[6361,"Irregular femoral epiphysis",["Irregular thighbone end part"],[6499,10582]],[6362,"Varus deformity of humeral neck",[],[3887]],[6366,"Adductor longus contractures",[],[5750]],[6367,"Crumpled long bones",[],[11314]],[6368,"Forearm reduction defects",[],[2973]],[6369,"Irregular patellae",["Irregular patellar contour","Irregular patellar margins"],[3045]],[6370,"Distal ulnar epiphyseal stippling",["Distal ulnar epiphyseal calcifications"],[10600,10655]],[6371,"Broad long bone diaphyses",["Broad shaft of long bone","Wide shaft of long bone"],[940]],[6375,"Dumbbell-shaped femur",["Dumbbell-shaped thighbone"],[947,2823]],[6376,"Limited elbow flexion",[],[2996]],[6378,"Osteolysis of patellae",[],[3045,9139]],[6379,"Proximal tibial hypoplasia",["Proximal tibial hypopolasia"],[5736]],[6380,"Knee flexion contracture",["Inability to straighten knee","Flexion contracture of knees","Flexion contractures at both knees","Flexion contractures of knees","Flexion deformity of the knee","Knee flexion contractures","Knee flexion deformity"],[5750,34671]],[6381,"Rudimentary fibula",["Rudimentary to absent fibulae","Small to absent calf bone","Small to absent fibula"],[3038]],[6383,"Progressive bowing of long bones",[],[6487]],[6384,"Club-shaped distal femur",["Club-shaped distal femora","Club-shaped outermost end of thighbone"],[2823]],[6385,"Short lower limbs",["Short legs"],[9816]],[6386,"Hypoplastic distal radial epiphyses",[],[10597]],[6387,"Wide distal femoral metaphysis",["Broad outermost wide portion of thighbone","Wide distal metaphysis of femur"],[6417,30299]],[6389,"Limited knee flexion",[],[10501]],[6390,"Anterior tibial bowing",["Anterior bowing of tibia","Saber shin","Saber tibia","Sabre shin"],[2982]],[6391,"Overtubulated long bones",[],[11314]],[6392,"Increased density of long bones",[],[11001,11314]],[6394,"Limited pronation/supination of forearm",[],[2996]],[6397,"Lateral displacement of patellae",[],[3045]],[6398,"Flat distal femoral epiphysis",["Flat end part of outermost thighbone","Flattened distal femoral epiphyses"],[10590,30289]],[6400,"Absent knee epiphyses",["Absent knee end part"],[10577,34669]],[6402,"Distal shortening of limbs",["Short outer part of limbs"],[9826]],[6406,"Club-shaped proximal femur",["Club-shaped innermost end of thighbone"],[2823]],[6407,"Irregular distal femoral epiphysis",["Irregular outermost thighbone end part"],[6361,10590]],[6408,"Distal tapering femur",["Tapering of outermost end of thighbone"],[2823]],[6409,"Progressive leg bowing",[],[6383]],[6413,"Broad tibial metaphyses",["Broad wide portion of shankbone","Broad wide portion of shinbone"],[6491]],[6414,"Distal tibial bowing",["Bowing of the distal tibia","Tibial bowing at ankle"],[2982,34673]],[6415,"Cortically dense long tubular bones",[],[935]],[6417,"Wide femoral metaphysis",["Broad femoral metaphyses","Broad femoral metaphysis","Broad wide portion of thigh bone"],[6489]],[6423,"Peg-like central prominence of distal tibial metaphyses",[],[6491]],[6424,"Elongated radius",[],[2818]],[6426,"Rudimentary to absent tibiae",[],[5772]],[6429,"Broad femoral neck",["Broadening of femoral neck","Wide femoral neck","Wide neck of thigh bone","Widened femoral necks"],[3367]],[6431,"Abnormal proximal femoral metaphysis morphology",["Abnormal wide portion of innermost thighbone","Proximal femoral metaphyseal abnormality"],[6489]],[6432,"Trapezoidal distal femoral condyles",[],[2823]],[6433,"Radial ray deficiency",["Abnormal radial ray morphology","Deformity of radial ray","Dysplastic radii","Radial club hand","Radial dysplasia","Radial longitudinal deficiency","Radial ray anomaly","Radial ray deformity"],[2818]],[6434,"Hypoplasia of proximal radius",["Proximal radial shortening"],[2984]],[6437,"Disproportionate prominence of the femoral medial condyle",[],[2823]],[6438,"Enlargement of the distal femoral epiphysis",["Enlargement of the outermost thighbone end part","Large distal femoral epiphyses"],[10590]],[6439,"Radioulnar dislocation",["Dislocated radioulnar joints"],[3059]],[6440,"Increased density of long bone diaphyses",["Increased density of shaft of long bone"],[940,6392]],[6441,"Lateral humeral condyle aplasia",[],[31095]],[6442,"Hypoplasia of proximal fibula",["Small innermost upper end of calf bone","Underdeveloped innermost upper end of calf bone"],[3038]],[6443,"Patellar aplasia",["Absent kneecap","Absent patella","Absent patellae","Absent patellas","Aplastic patellae"],[6498]],[6446,"Dysplastic patella",[],[3045,3330]],[6449,"Distal radial epiphyseal osteolysis",[],[10597]],[6450,"Multicentric ossification of proximal femoral epiphyses",[],[9107,10574]],[6453,"Lateral displacement of the femoral head",["Laterally displaced femoral heads"],[3368]],[6454,"Delayed patellar ossification",["Delayed patellae ossification","Delayed bone maturation of the knee cap"],[3045,3336]],[6456,"Irregular proximal tibial epiphyses",["Irregular innermost shankbone end part","Irregular innermost shinbone end part"],[10582,10591]],[6459,"Dorsal subluxation of ulna",[],[40071]],[6460,"Ankle hypermobility",["Increased laxity of ankles"],[1382,34674]],[6461,"Proximal femoral epiphysiolysis",["Slipped capital femoral epiphyses","Slipped capital femoral epiphysis","Slipped end part of innermost thighbone"],[10574]],[6462,"Generalized bone demineralization",["Generalised bone demineralization"],[4349]],[6463,"Rickets of the lower limbs",[],[2748,2814]],[6465,"Periosteal thickening of long tubular bones",[],[11314,30313]],[6466,"Ankle flexion contracture",[],[34677]],[6467,"Limited shoulder movement",[],[1376,33129]],[6470,"Thin long bone diaphyses",["Thin diaphyses of long bones","Thin shaft of long bone"],[940]],[6471,"Fixed elbow flexion",[],[6376]],[6473,"Anterior bowing of long bones",[],[6487]],[6476,"Abnormality of the pancreatic islet cells",[],[12093]],[6477,"Abnormal alveolar ridge morphology",["Abnormality of the alveolar ridges","Abnormality of alveolar margin","Abnormality of dentoalveolar ridges","Abnormality of gum ridge","Defect in alveolar ridge","Abnormality of alveolar processes of jaw"],[163]],[6479,"Abnormal dental pulp morphology",["Abnormality of the dental pulp","Abnormality of tooth pulp","Endodontic abnormality"],[11061]],[6480,"Spontaneous tooth loss",["Early tooth loss","Loss of teeth","Premature loss of teeth","Premature teeth loss","Premature tooth loss","Premature exfoliation of teeth"],[20354]],[6481,"Abnormal primary tooth morphology",["Abnormality of baby teeth","Abnormality of deciduous teeth","Abnormality of milk teeth","Abnormality of primary teeth"],[6482]],[6482,"Abnormal dental morphology",["Abnormality of dental morphology","Abnormality of dental shape","Abnormality of shape of tooth","Abnormally shaped teeth","Deformity of teeth","Dental deformity","Dental malformations","Malformation of teeth","Malformed teeth","Misshapen teeth","Misshapened teeth"],[164,31816]],[6483,"Abnormal number of teeth",["Abnormal complement of teeth","Abnormal tooth count"],[6482]],[6485,"Agenesis of incisor",["Failure of development of incisor","Absence of front tooth","Absence of incisors","Missing front tooth","Missing incisors"],[1592,11064]],[6486,"Abnormal dental root morphology",["Abnormality of the dental root","Abnormality of tooth root","Dental root anomaly"],[6482]],[6487,"Bowing of the long bones",["Bowed long bones","Bowing of long bones","Camptomelia","Diaphyseal bowing","Diaphyseal bowing of long bones"],[940]],[6488,"Bowing of the arm",["Bending of the arm"],[2817,6487]],[6489,"Abnormal femoral metaphysis morphology",["Abnormality of the wide portion of the femoral bone","Abnormality of the femoral metaphysis"],[2823,6490]],[6490,"Abnormal lower-limb metaphysis morphology",["Abnormality of lower-limb metaphyses","Abnormality of the wide portion of the lower-limb bone"],[944,2814]],[6491,"Abnormal tibial metaphysis morphology",["Abnormality of the wide portion of shankbone","Abnormality of the wide portion of shinbone","Abnormality of the tibial metaphysis"],[2992,6490]],[6492,"Aplasia/Hypoplasia of the fibula",["Absent/small calf bone","Absent/underdeveloped calf bone","Fibular aplasia/hypoplasia","Hypoplastic/aplastic fibulae"],[2991,6493]],[6493,"Aplasia/hypoplasia involving bones of the lower limbs",["Absent/small lower limb bones","Absent/underdeveloped lower limb bones"],[40069,45060]],[6494,"Aplasia/Hypoplasia involving bones of the feet",["Absent/small foot bones","Absent/underdeveloped foot bones"],[1760,6493]],[6495,"Aplasia/Hypoplasia of the ulna",["Absence/underdevelopment of inner forearm bone","Absent-hypoplastic ulnae","Absent/small ulna","Hypoplasia or unilateral/bilateral absence of ulna","Ulnar hypoplasia/aplasia"],[6503,40071]],[6496,"Aplasia/hypoplasia involving bones of the upper limbs",["Absent/small bones of the upper limbs","Absent/underdeveloped bones of the upper limbs"],[2817,45060]],[6498,"Aplasia/Hypoplasia of the patella",["Absent or hypoplastic patellae","Absent/hypoplastic patella","Absent/small kneecap","Absent/underdeveloped kneecap","Aplastic or hypoplastic patellae","Hypoplastic or absent patella","Patellar aplasia/hypoplasia","Small to absent patellae"],[3045,6493]],[6499,"Abnormal femoral epiphysis morphology",["Abnormality of femoral epiphysis","Abnormality of thighbone end part"],[2823,6500]],[6500,"Abnormal lower limb epiphysis morphology",["Abnormal shape of end part of lower limb end bone","Abnormality involving the epiphyses of the lower limbs","Abnormality of lower limb epiphysis morphology"],[2814,6505]],[6501,"Aplasia/Hypoplasia of the radius",["Absence or underdevelopment of the radius bone of the arm","Absent/small radius","Absent/underdeveloped radius","Radial aplasia/hypoplasia"],[2818,6503]],[6502,"Aplasia/Hypoplasia involving the carpal bones",["Absent/small wrist bones","Absent/underdeveloped wrist bones"],[1191,5927]],[6503,"Aplasia/hypoplasia involving forearm bones",["Absent/small forearm bones","Absent/underdeveloped forearm bones"],[6496,40072]],[6505,"Abnormal limb epiphysis morphology",["Abnormal shape of end part of limb bones","Abnormality involving the epiphyses of the limbs","Abnormality of limb epiphysis morphology"],[2813,5930]],[6507,"Aplasia/hypoplasia of the humerus",["Absent/small long bone in upper arm","Absent/underdeveloped long bone in upper arm"],[6496,31095]],[6508,"Abnormality of tibial epiphyses",["Abnormality of end part of shinbone"],[2992,6500]],[6509,"Diverticulosis of trachea",["Tracheal diverticulosis","Tracheal diverticulum","Tracheocele","Paratracheal air cyst"],[2778]],[6510,"Chronic pulmonary obstruction",["COPD","Chronic obstructive pulmonary disease"],[6536]],[6511,"Laryngeal stridor",["Laryngeal stidor"],[25424]],[6514,"Intraalveolar nodular calcifications",[],[10766,33137]],[6515,"Interstitial pneumonitis",[],[6530]],[6516,"Hypersensitivity pneumonitis",[],[6530]],[6517,"Intraalveolar phospholipid accumulation",["Alveolar proteinosis","Detection of PAS-positive extracellular material in broncho-alveolar lavage","Pulmonary alveolar proteinosis"],[32973]],[6518,"Pulmonary venous occlusion",["Pulmonary venous stenosis","Pulmonary venoocclusive disease"],[30968]],[6519,"Alveolar cell carcinoma",[],[100552]],[6520,"Progressive pulmonary function impairment",[],[2795]],[6521,"Pulmonary lymphangiectasia",["Pulmonary lymphangiectasis"],[6529,31842]],[6522,"Repeated pneumothoraces",["Repeated pneumothorax"],[2107]],[6524,"Tracheobronchial leiomyomatosis",[],[100552]],[6527,"Lymphocytic interstitial pneumonia",["Lymphocytic interstitial pneumonitis","Lymphoid interstitial pneumonia","Lymphoid interstitial pneumonitis"],[6515,33582]],[6528,"Chronic lung disease",[],[2795]],[6529,"Abnormal pulmonary lymphatics",[],[2088,100763]],[6530,"Abnormal pulmonary interstitial morphology",["Abnormal lung parenchyma morphology","Abnormality in area between air sacs in lung","Interstitial lung disease","Interstitial pulmonary disease"],[2088]],[6531,"Pleural lymphangiectasia",[],[2103,31842]],[6532,"Recurrent pneumonia",["Multiple pulmonary infections","Pneumonia, recurrent","Pneumonia, recurrent episodes","Pulmonary infection","Pulmonary infections","Recurrent pulmonary infections","pulmonary infections, recurrent"],[2090,2783]],[6533,"Bronchodysplasia",[],[25426]],[6535,"Recurrent intrapulmonary hemorrhage",["Recurrent bleeding into lungs","Recurrent intrapulmonary haemorrhage","Recurrent pulmonary haemorrhage","Recurrent pulmonary hemorrhage"],[40223]],[6536,"Airway obstruction",["Obstructive lung disease","Pulmonary obstruction"],[2795]],[6538,"Recurrent bronchopulmonary infections",["Recurrent infections in bronchi and lungs","Recurrent bronchopneumonia"],[2205]],[6539,"Bronchial cartilage hypoplasia",["Underdevelopment of the bronical cartilage"],[25426]],[6543,"Cardiorespiratory arrest",[],[5943]],[6544,"Extrapulmonary lobar sequestration",["Extralobar sequestration","Extrapulmonary sequestrum","Diaphragmatic sequestrum"],[100632]],[6548,"Pulmonary arteriovenous malformation",["Pulmonary AV malformation"],[4930,100026]],[6549,"Unilateral primary pulmonary dysgenesis",["Primary pulmonary dysgenesis, unilateral"],[4000059]],[6552,"Fibrocystic lung disease",[],[5948]],[6554,"Acute hepatic failure",["Acute liver failure"],[1399]],[6555,"Diffuse hepatic steatosis",["Hepatic steatosis, diffuse"],[1397]],[6557,"Polycystic liver disease",[],[6706]],[6558,"Decreased mitochondrial complex III activity in liver tissue",[],[25155]],[6559,"Hepatic calcification",["Liver calcifications"],[10766,410042]],[6560,"Biliary hyperplasia",["Bile duct hyperplasia"],[12440]],[6561,"Lipid accumulation in hepatocytes",[],[31137]],[6562,"Viral hepatitis",[],[5210139]],[6563,"Malformation of the hepatic ductal plate",[],[4297]],[6564,"Fluctuating hepatomegaly",[],[2240]],[6565,"Increased hepatocellular lipid droplets",[],[6561]],[6566,"Neonatal cholestatic liver disease",[],[2611]],[6568,"Increased hepatic glycogen content",["Increased liver glycogen content"],[500030]],[6571,"Reduced number of intrahepatic bile ducts",["Hepatic ductopenia","Intrahepatic duct deficiency"],[11040]],[6572,"Subacute progressive viral hepatitis",[],[6562]],[6573,"Acute hepatic steatosis",["Acute fatty liver"],[1397]],[6574,"Hepatic arteriovenous malformation",["Liver arteriovenous malformation"],[6707,100026]],[6575,"Intrahepatic cholestasis with episodic jaundice",[],[1406]],[6576,"Hepatic vascular malformations",["Liver vascular malformations"],[6707]],[6577,"Macronodular cirrhosis",[],[1394]],[6579,"Prolonged neonatal jaundice",["Neonatal jaundice","Prolonged yellowing of skin in newborn","Jaundice, neonatal"],[952]],[6580,"Portal fibrosis",["Portal fibrosis shown on biopsy"],[4297]],[6581,"Depletion of mitochondrial DNA in liver",[],[30059,410042]],[6582,"Reye syndrome-like episodes",[],[6846,25155]],[6583,"Fatal liver failure in infancy",[],[1399]],[6584,"Small abnormally formed scapulae",["Small abnormally formed scapula","Small abnormally formed shoulder blade"],[882]],[6585,"Congenital pseudoarthrosis of the clavicle",["Clavicle pseudoarthrosis","Pseudoarthrosis of clavicle","Bipartite clavicle"],[5864,6710]],[6587,"Straight clavicle",["Straight clavicles","Straight collarbone"],[889]],[6589,"Flaring of lower rib cage",[],[904]],[6590,"Premature sternal synostosis",["Prematurely closed sternal sutures"],[6714]],[6591,"Absent glenoid fossa",["Aplasia of the glenoid fossa"],[11912]],[6593,"Anomalous rib insertion to vertebrae",[],[772]],[6595,"Scapulohumeral synostosis",["Fusion of shoulder blade to long bone in upper arm","Humero-scapulo synostosis","Humeroscapular synostosis","Synostosis of shoulder joint"],[782,1376,3043,31095,100238]],[6596,"Restricted chest movement",[],[1376,1547]],[6597,"Diaphragmatic paralysis",["Paralysed diaphragm","Paralyzed diaphragm"],[3470,9113]],[6598,"Irregular ossification at anterior rib ends",[],[12306]],[6599,"Medial widening of clavicle",["Medial widening of clavicles"],[889]],[6600,"Progressive calcification of costochondral cartilage",[],[919,100593]],[6603,"Flared, irregular rib ends",[],[887]],[6606,"Irregular chondrocostal junctions",["Irregular costochondral margins"],[919]],[6607,"Precocious costochondral ossification",[],[919,4348,12306]],[6608,"Midclavicular hypoplasia",["Underdeveloped middle portion of the collarbone"],[894]],[6610,"Wide intermamillary distance",["Wide-spaced nipples","Widely spaced nipples","Widely-spaced nipples"],[40157]],[6611,"Decreased number of sternal ossification centers",["Decreased number of sternal ossification centres"],[11863]],[6615,"Absent in utero rib ossification",["Absent rib calcification in utero"],[12306]],[6619,"Anterior rib punctate calcifications",[],[12306,40059]],[6623,"Costochondral joint sclerosis",["Sclerotic costochondral joints"],[919]],[6625,"Multifocal breast carcinoma",["Multifocal breast cancer"],[3002]],[6628,"Absent sternal ossification",["Absent sternal mineralization","Lack of sternal ossification","Absent bone maturation in sternum"],[6714,11863]],[6631,"Hypoplastic distal segments of scapulae",["Small outermost segments of shoulder blade","Small distal segments of the shoulder blade","Underdeveloped outermost segments of shoulder blade"],[882]],[6633,"Glenoid fossa hypoplasia",["Glenoid hypoplasia","Hypoplastic glenoid fossa"],[11912]],[6634,"Osteosclerosis of ribs",["Increased bone density in ribs"],[12306]],[6637,"Sternal punctate calcifications",[],[766,10766]],[6638,"Midclavicular aplasia",["Missing middle part of collarbone"],[6710]],[6640,"Multiple rib fractures",[],[772]],[6641,"Prominent floating ribs",[],[772]],[6642,"Large sternal ossification centers",["Large sternal ossification centres"],[11863]],[6643,"Fused sternal ossification centers",["Fused sternal ossification centres"],[11863]],[6644,"Thoracic dysplasia",[],[1547]],[6645,"Thin clavicle",["Thin clavicles","Thin collarbone"],[889]],[6646,"Costal cartilage calcification",["Cartilaginous ossification of rib"],[12306,100593]],[6647,"Congenital microthorax",[],[5257]],[6649,"Costochondral pain",["Costochondral junction pain"],[919,12531]],[6650,"Thickening of the lateral border of the scapula",["Thickening of the lateral border of the shoulder blade"],[782]],[6655,"Rib segmentation abnormalities",[],[772]],[6657,"Hypoplasia of first ribs",["Hypoplastic first rib","Hypoplastic first ribs","Small first rib","Underdeveloped first rib"],[773]],[6659,"Internally rotated shoulders",[],[3043]],[6660,"Aplastic clavicle",["Absent clavicles","Absent collarbone","Aplastic clavicles"],[6710]],[6665,"Coat hanger sign of ribs",[],[772]],[6668,"Twelfth rib hypoplasia",["Small twelfth rib","Underdeveloped twelfth rib"],[773]],[6670,"Impaired myocardial contractility",[],[6673]],[6671,"Paroxysmal atrial tachycardia",[],[4763]],[6673,"Reduced systolic function",[],[11025]],[6677,"Prolonged QRS complex",["Intraventricular conduction delay","Prolonged QRS complex on EKG","QRS widening"],[25074]],[6679,"Granulomatous coronary arteritis",[],[6704,12089]],[6681,"Absent atrioventricular node",[],[1678]],[6682,"Premature ventricular contraction",["Extra heart beat","Premature ventricular beat","Premature ventricular contractions","Ventricular ectopics","Ventricular extrasystoles","Ventricular premature beat","Missed heartbeat","Skipped heartbeat"],[4308]],[6683,"Abnormal ventricular filling",[],[30872]],[6684,"Ventricular preexcitation with multiple accessory pathways",[],[4309]],[6685,"Endocardial fibrosis",["Endomyocardial fibrosis"],[4306]],[6687,"Aortic tortuosity",[],[1679]],[6688,"Paroxysmal tachycardia",[],[1649]],[6689,"Bacterial endocarditis",["Infective endocarditis"],[100584]],[6690,"Myocardial calcification",["Calcified myocardium"],[1713,11915]],[6691,"Pulmonic valve myxoma",[],[1641]],[6692,"Short chordae tendineae of the tricuspid valve",[],[31442]],[6693,"Myocardial steatosis",[],[1713]],[6694,"Early progressive calcific cardiac valvular disease",[],[5146]],[6695,"Atrioventricular canal defect",["Hole in center of heart","Hole in centre of heart","Atrioventricular septal defect","Endocardial cushion defect"],[1671]],[6696,"Polymorphic and polytopic ventricular extrasystoles",[],[6682]],[6698,"Dilatation of the ventricular cavity",["Ventricular aneurysm"],[1713]],[6699,"Premature atrial contractions",["Atrial ectopic beats","Atrial premature complex","Ectopic supraventricular rhythms","PACs","Premature supraventricular beats"],[5115]],[6702,"Coronary artery dissection",[],[6704]],[6703,"Aplasia/Hypoplasia of the lungs",["Absent/small lungs","Absent/underdeveloped lungs"],[4000059]],[6704,"Abnormal coronary artery morphology",[],[11004]],[6705,"Abnormal atrioventricular valve morphology",["Abnormality of the atrioventricular valves"],[1654]],[6706,"Cystic liver disease",[],[410042]],[6707,"Abnormality of the hepatic vasculature",["Abnormality of liver blood vessels","Abnormality of the liver vasculature"],[2597,410042]],[6709,"Aplasia/Hypoplasia of the nipples",["Absent/rudimentary nipples","Absent/small nipples","Absent/underdeveloped nipples","Nipples absent or rudimentary"],[4404]],[6710,"Aplasia/Hypoplasia of the clavicles",["Absent/small collarbone","Absent/underdeveloped collarbone"],[889,6711]],[6711,"Aplasia/Hypoplasia involving bones of the thorax",["Absent/small outermost thorax bone","Absent/underdeveloped thorax bone"],[765,9122]],[6712,"Aplasia/Hypoplasia of the ribs",["Absent/small ribs","Absent/underdeveloped ribs","Hypoplastic or missing ribs"],[772,6711]],[6713,"Aplasia/Hypoplasia of the scapulae",["Absent/small shoulder blade","Absent/underdeveloped shoulder blade"],[782,6711]],[6714,"Aplasia/Hypoplasia of the sternum",["Absent/small sternum","Absent/underdeveloped sternum"],[766,6711]],[6715,"Glomus tympanicum paraganglioma",["Tympanic nerve tumor","Tympanic nerve tumors","Tympanic nerve tumour","Tympanic nerve tumours"],[2864]],[6716,"Hereditary nonpolyposis colorectal carcinoma",[],[2672,100834]],[6717,"Peripheral neuroepithelioma",[],[100007]],[6719,"Benign gastrointestinal tract tumors",["Benign GI tract tumors","Benign GI tract tumours","Benign gastrointestinal tract tumours","Non-cancerous GI tumors","Non-cancerous GI tumours"],[7378]],[6721,"Acute lymphoblastic leukemia",["Acute lymphatic leukaemia","Acute lymphatic leukemia","Acute lymphoblastic leukaemia","Acute lymphocytic leukaemia","Acute lymphocytic leukemia","Acute lymphoid leukaemia","Acute lymphoid leukemia"],[2488]],[6722,"Small intestine carcinoid",[],[100570,100833]],[6723,"Intestinal carcinoid",[],[7378,100570]],[6725,"Pancreatic adenocarcinoma",[],[2894]],[6727,"T-cell acute lymphoblastic leukemias",[],[6721]],[6729,"Retroperitoneal paraganglioma",["Retroperitoneal chemodectoma"],[100568]],[6731,"Follicular thyroid carcinoma",[],[2890]],[6732,"Papillary renal cell carcinoma type 2",[],[6766]],[6733,"Acute megakaryocytic leukemia",["AMegL","Acute megakaryocytic leukaemia"],[2488]],[6735,"Renal cortical adenoma",["Kidney cortical adenoma"],[9726]],[6737,"Extraadrenal pheochromocytoma",["Pheochromocytoma, extraadrenal"],[2666]],[6739,"Squamous cell carcinoma of the skin",["Squamous skin carcinoma"],[2860]],[6740,"Transitional cell carcinoma of the bladder",["Transitional cell bladder carcinoma"],[2862]],[6742,"Congenital neuroblastoma",[],[3006]],[6743,"Embryonal rhabdomyosarcoma",[],[2859,2898]],[6744,"Adrenocortical carcinoma",["Adrenal carcinoma","Adrenal gland carinoma"],[100641]],[6747,"Ganglioneuroblastoma",[],[3006]],[6748,"Adrenal pheochromocytoma",["Pheochromocytoma, adrenal","Pheochromocytomas, adrenal"],[2666,100642]],[6749,"Malignant gastrointestinal tract tumors",["Malignant GI tract tumors","Malignant GI tract tumours","Malignant gastrointestinal tract tumours"],[7378]],[6751,"Paraspinal neurofibroma",["Paraspinal neurofibromas"],[34761]],[6753,"Neoplasm of the stomach",["Stomach tumor","Stomach tumour","Neoplasia of the stomach"],[2577,7378]],[6755,"Cutaneous leiomyosarcoma",[],[8069,100243]],[6756,"Diffuse leiomyomatosis",[],[31459]],[6758,"Malignant genitourinary tract tumor",["Malignant GU tract tumor","Malignant GU tract tumour","Malignant genitourinary tract tumour"],[7379]],[6762,"Renal pelvic carcinoma",[],[9726]],[6763,"Anal canal squamous carcinoma",[],[30437]],[6765,"Chondrosarcoma",[],[10622,100242]],[6766,"Papillary renal cell carcinoma",[],[5584]],[6767,"Pituitary prolactin cell adenoma",["Pituitary prolactinoma","Prolactin-secreting pituitary adenoma","Prolactinoma"],[2893]],[6768,"Localized neuroblastoma",["Localised neuroblastoma"],[3006]],[6769,"Myxoid subcutaneous tumors",["Myxoid subcutaneous tumours"],[8069]],[6770,"Clear cell renal cell carcinoma",["Nonpapillary renal cell carcinoma"],[5584]],[6771,"Duodenal adenocarcinoma",["Duodenal cancer"],[40274]],[6772,"Renal angiomyolipoma",["Angiomyolipoma","Kidney angiomyolipoma"],[8696]],[6773,"Cutaneous angiolipomas",[],[1012,8069]],[6774,"Ovarian papillary adenocarcinoma",[],[100615]],[6775,"Multiple myeloma",["Kahler's disease","Plasmocytoma"],[4377]],[6778,"Benign genitourinary tract neoplasm",["Benign GU tract neoplasm","Benign genitourinary tract tumor","Benign genitourinary tract tumour"],[7379]],[6779,"Alveolar rhabdomyosarcoma",[],[2859]],[6780,"Parathyroid carcinoma",["Parathyroid Cancer"],[100733]],[6781,"Hurthle cell thyroid adenoma",[],[854]],[6782,"Malignant eosinophil proliferation",[],[4377]],[6783,"Posterior pharyngeal cleft",[],[600]],[6784,"Paranasal sinus hypoplasia",["Small paranasal sinus","Decreased size of paranasal sinus","Decreased volume of paranasal sinus","Underdevelopment of paranasal sinus","Decreased growth of paranasal sinus","Decreased pneumatization of paranasal sinus","Atelectasis of paranasal sinus","Hypotrophic paranasal sinus"],[5453]],[6785,"Limb-girdle muscular dystrophy",["limb girdle muscular dystrophy"],[3560,3797]],[6789,"Mitochondrial encephalopathy",[],[1298]],[6790,"Cerebral cortex with spongiform changes",[],[2538]],[6794,"Loss of ability to walk in first decade",[],[2505]],[6799,"Basal ganglia cysts",["Cystic lesions in the basal ganglia"],[2134,10576]],[6801,"Hyperactive deep tendon reflexes",[],[1347]],[6802,"Abnormal anterior horn cell morphology",["Abnormality of the anterior horn cell","Abnormality of the anterior horn cells","Anomaly of the anterior horn cells","Anterior horn cell disease"],[759,2450]],[6803,"Vivid hallucination",[],[2367]],[6808,"Cerebral hypomyelination",["Hypomyelination of the brain"],[3429]],[6812,"Abnormal posterior periventricular white matter morphology",["White matter abnormalities in the posterior periventricular region"],[2500]],[6813,"Focal hemiclonic seizure",["Hemiclonic seizure","Hemiclonic seizures","Unilateral clonic seizure","Unilateral clonic seizures"],[2266]],[6817,"Aplasia/Hypoplasia of the cerebellar vermis",["Cerebellar vermis aplasia/hypoplasia","Hypo/aplastic vermis","Cerebellar vermis aplasia or hypoplasia"],[2334,7360]],[6818,"4-layered lissencephaly",["Classic lissencephaly","Four-layered lissencephaly","Lissencephaly, type I","Type 1 lissencephaly","Type I lissencephaly"],[1339]],[6821,"Frontal polymicrogyria",["Polymicrogyria, anterior to posterior gradient"],[2126]],[6824,"Cranial nerve paralysis",["Cranial nerve palsies","Cranial nerve palsy","Cranial nerve paresis"],[31910]],[6825,"Pallor of dorsal columns of the spinal cord",[],[11397]],[6827,"Atrophy of the spinal cord",["Degeneration of the spinal cord"],[7344]],[6829,"Severe muscular hypotonia",["Hypotonia, severe","Severely decreased muscle tone"],[1252]],[6834,"Developmental stagnation at onset of seizures",[],[7281]],[6837,"Congenital Horner syndrome",[],[2277]],[6844,"Absent patellar reflexes",["Absent knee jerk reflex"],[2522]],[6846,"Acute encephalopathy",[],[1298]],[6849,"Hypodysplasia of the corpus callosum",[],[2079]],[6850,"Hypoplasia of the ventral pons",["Underdeveloped ventral pons"],[12110]],[6851,"Symmetric spinal nerve root neurofibromas",["Spinal nerve root neurofibromas, symmetric, multiple"],[9735]],[6852,"Episodic generalized hypotonia",["Episodic generalised hypotonia"],[1290]],[6855,"Cerebellar vermis atrophy",["Atrophy of cerebellar vermis","Atrophy of the cerebellar vermis","Vermian atrophy"],[1272,2334]],[6858,"Impaired distal proprioception",["Distal sensory loss of proprioception"],[2936,10831]],[6859,"Posterior leukoencephalopathy",[],[2352]],[6863,"Severe expressive language delay",[],[2474]],[6865,"Sensorimotor polyneuropathy affecting arms more than legs",[],[9830]],[6866,"Midline central nervous system lipomas",["Midline CNS lipomas"],[100251]],[6870,"Lobar holoprosencephaly",[],[1360]],[6872,"Cerebral hypoplasia",["Small cerebrum","Underdeveloped cerebrum"],[7364]],[6873,"Symmetrical progressive peripheral demyelination",[],[7262]],[6879,"Pontocerebellar atrophy",["Cerebellopontine atrophy"],[1272,7361]],[6880,"Cerebellar hemangioblastoma",["Hemangioblastoma, sporadic cerebellar"],[1317,10797]],[6881,"Diffuse peripheral demyelination",[],[11096]],[6882,"Severe hydrocephalus",[],[238]],[6886,"Impaired distal vibration sensation",["Decreased distal vibration sense"],[2495]],[6888,"Meningoencephalocele",[],[2084]],[6889,"Borderline intellectual disability",["Intellectual disability, borderline","Mental retardation, borderline"],[1249]],[6891,"Thick cerebral cortex",[],[2538]],[6892,"Frontotemporal cerebral atrophy",["Cerebral atrophy, frontotemporal"],[2059]],[6894,"Hypoplastic olfactory lobes",[],[2977,25057]],[6895,"Lower limb hypertonia",[],[2509]],[6896,"Hypnopompic hallucination",["Hallucinations while awaking"],[4000063,5200297]],[6897,"Abducens palsy",["Abducens nerve palsy","Abducens nerve paralysis","Abducens nerve paresis","Cranial nerve VI palsy","Lateral rectus muscle denervation paresis","Sixth nerve palsy"],[6824]],[6899,"Fusion of the cerebellar hemispheres",[],[1317]],[6903,"Congenital peripheral neuropathy",[],[9830]],[6904,"Late-onset spinocerebellar degeneration",[],[2503]],[6906,"Congenital intracerebral calcification",[],[2514]],[6913,"Frontal cortical atrophy",["Frontal cortex degeneration"],[2120]],[6915,"Inability to walk by childhood/adolescence",[],[2540]],[6916,"Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material",["Intraaxonal accumulation of curvilinear profiles"],[3205]],[6918,"Diffuse cerebral sclerosis",[],[2060]],[6921,"Axial muscle stiffness",[],[3552,40286]],[6927,"Unilateral polymicrogyria",[],[2126]],[6929,"Hypoglycemic encephalopathy",[],[1298]],[6930,"Frontoparietal cortical dysplasia",[],[2539]],[6931,"Pericallosal lipoma",["Lipoma of corpus callosum"],[1273,6866]],[6932,"Transient psychotic episodes",["Brief psychotic episodes","Brief reactive psychosis"],[5200430]],[6934,"Congenital nystagmus",["Nystagmus, congenital"],[639]],[6937,"Impaired distal tactile sensation",["Decreased distal touch sense","Decreased touch sensation in extremities"],[2936,10830]],[6938,"Impaired vibration sensation at ankles",["Decreased vibration sense at ankles","Decreased vibration sense in feet"],[2166,6886]],[6943,"Diffuse spongiform leukoencephalopathy",[],[2352]],[6944,"Abolished vibration sense",["Apallesthesia"],[2495]],[6946,"Recurrent meningitis",[],[11450]],[6949,"Episodic peripheral neuropathy",[],[9830]],[6951,"Retrocerebellar cyst",[],[2350]],[6955,"Olivopontocerebellar hypoplasia",[],[1321,12110]],[6956,"Lateral ventricle dilatation",["Dilatation of lateral cerebral ventricles","Dilation of lateral ventricles","Enlarged lateral ventricles"],[2119,30047]],[6958,"Abnormal auditory evoked potentials",["Abnormal brainstem auditory-evoked potentials"],[30177,430106]],[6959,"Proximal spinal muscular atrophy",[],[7269]],[6960,"Choroid plexus calcification",["Calcified choroid plexus"],[7376,430048]],[6961,"Jerky head movements",["Head jerking","Jerking head movements"],[2457]],[6962,"Gait instability, worse in the dark",["Unstable walking, worse in the dark"],[2317]],[6964,"Cerebral cortical neurodegeneration",[],[7369]],[6965,"Acute necrotizing encephalopathy",[],[6846]],[6970,"Periventricular leukomalacia",["PVL"],[2518]],[6976,"Necrotizing encephalopathy",[],[1298]],[6977,"Deficit in grammar",["Grammar-specific speech disorder"],[2463]],[6978,"Dysmyelinating leukodystrophy",[],[2415]],[6979,"Sleep-wake cycle disturbance",["Internal-clock disorders","Sleep phase disturbance","Sleep-wake cycle disorders","Sleep-wake mistiming"],[2360]],[6980,"Progressive leukoencephalopathy",["Leukoencephalopathy, progressive"],[2352]],[6986,"Upper limb spasticity",["Spastic upper extremities","Spastic upper extremity","Spastic upper limb","Spastic upper limbs","Spasticity in upper extremities","Spasticity in upper extremity","Spasticity in upper limb","Spasticity in upper limbs","Spasticity of upper extremities","Spasticity of upper extremity","Spasticity of upper limb","Spasticity of upper limbs","Uncontrollable movement in upper arms","Upper extremities spasticity","Upper extremity spasticity"],[34353]],[6988,"Alobar holoprosencephaly",[],[1360]],[6989,"Dysplastic corpus callosum",["Dysgenesis of corpus callosum","Dysplasia of corpus callosum"],[1273]],[6990,"Myelin-dependent gliosis",[],[2171]],[6992,"Anterior basal encephalocele",[],[7035]],[6994,"Diffuse leukoencephalopathy",[],[2352]],[6999,"Basal ganglia gliosis",["Gliosis in the basal ganglia"],[2134,2171]],[7000,"Morning myoclonic jerks",[],[1336]],[7001,"Loss of Purkinje cells in the cerebellar vermis",[],[2334]],[7002,"Motor axonal neuropathy",["Distal motor neuropathy","Length dependent motor neuropathy"],[3477]],[7006,"Dorsal column degeneration",[],[11397]],[7007,"Cavitation of the basal ganglia",[],[2134]],[7009,"Central nervous system degeneration",["CNS degeneration"],[7367]],[7010,"Poor fine motor coordination",["Fine motor disability","Fine motor impairment","Fine motor skill dysfunction","Impaired fine motor skills"],[2311]],[7011,"Fourth cranial nerve palsy",["Trochlear nerve palsy"],[6824]],[7015,"Poor gross motor coordination",["Gross motor impairment"],[2311]],[7016,"Corticospinal tract hypoplasia",[],[7365]],[7017,"Progressive forgetfulness",["Forgetfullness"],[2354]],[7018,"Attention deficit hyperactivity disorder",["ADHD","Attention deficit","Attention deficit disorder","Attention deficit-hyperactivity disorder","Attention deficits","Childhood attention deficit/hyperactivity disorder"],[736,752]],[7020,"Progressive spastic paraplegia",[],[1258]],[7021,"Pain insensitivity",["Absence of pain sensation"],[7328]],[7023,"Antenatal intracerebral hemorrhage",["Antenatal intracerebral haemorrhage"],[1342]],[7024,"Pseudobulbar paralysis",["Pseudobulbar palsy","Pseudobulbar syndrome"],[1260,1618,2015,2200,3470]],[7027,"Poorly formed metencephalon",[],[11283]],[7029,"Cerebral berry aneurysm",["Cerebral saccular aneurysm"],[4944]],[7030,"Nonprogressive encephalopathy",[],[1298]],[7033,"Cerebellar dysplasia",[],[1317]],[7034,"Generalized hyperreflexia",["Generalised hyperreflexia"],[1347]],[7035,"Anterior encephalocele",["Sincipital encephalocele"],[2084]],[7036,"Hypoplasia of olfactory tract",["Underdeveloped olfactory tract"],[2977]],[7039,"Symmetric T2-signal increase with T1-signal decrease in the putamen",[],[2134]],[7041,"Chronic lymphocytic meningitis",[],[1287]],[7042,"Focal white matter lesions",[],[2500]],[7045,"Midline brain calcifications",[],[2514]],[7047,"Atrophy of the dentate nucleus",[],[100321]],[7048,"Large basal ganglia",[],[2134]],[7052,"Multifocal cerebral white matter abnormalities",[],[2500]],[7054,"Proximal hyperreflexia",["Hyperreflexia proximally"],[1347]],[7057,"Poor hand-eye coordination",[],[2311]],[7058,"Generalized cerebral atrophy/hypoplasia",["Generalised cerebral atrophy/hypoplasia","Generalised cerebral degeneration/underdevelopment","Generalized cerebral degeneration/underdevelopment"],[2059]],[7063,"Aplasia of the inferior half of the cerebellar vermis",["Absent inferior half of the cerebellar vermis"],[6817]],[7064,"Progressive language deterioration",[],[2344]],[7065,"Disorganization of the anterior cerebellar vermis",["Disorganisation of the anterior cerebellar vermis"],[2334]],[7066,"Proximal limb muscle stiffness",[],[3552,9127]],[7067,"Distal peripheral sensory neuropathy",["Peripheral sensory neuropathy, distal"],[763]],[7068,"Inferior cerebellar vermis hypoplasia",["Hypoplasia of inferior vermis","Inferior vermis hypoplasia"],[1320]],[7069,"Profound static encephalopathy",[],[7030]],[7074,"Thick corpus callosum",["Abnormal size of corpus callosum","Large corpus callosum"],[1273]],[7076,"Extrapyramidal muscular rigidity",[],[2063,2071]],[7078,"Decreased amplitude of sensory action potentials",[],[30179]],[7082,"Dilated third ventricle",[],[2119,10951]],[7083,"Hyperactive patellar reflex",["Hyperreflexia in knees","Overactive knee reflex","Brisk knee jerk"],[2395,7054]],[7086,"Social and occupational deterioration",[],[1268]],[7089,"Facial-lingual fasciculations",[],[2380,10546]],[7096,"Hypoplasia of the optic tract",["Underdeveloped optic tract"],[11000]],[7097,"Cranial nerve motor loss",[],[1291]],[7098,"Paroxysmal choreoathetosis",["Choreoathetosis, episodic","Choreoathetosis, intermittent"],[1266]],[7099,"Chiari type I malformation",["Arnold Chiari type I malformation","Arnold-Chiari type I malformation","Chiari I malformation"],[2308]],[7100,"Progressive ventriculomegaly",[],[2119]],[7103,"Hypointensity of cerebral white matter on MRI",["White matter hypointensities on MRI"],[2500]],[7104,"Prolonged somatosensory evoked potentials",[],[7377]],[7105,"Infantile encephalopathy",[],[1298]],[7107,"Segmental peripheral demyelination",[],[11096]],[7108,"Demyelinating peripheral neuropathy",[],[9830,12447]],[7109,"Periventricular cysts",[],[2518,10576]],[7110,"Central hypoventilation",[],[2791]],[7111,"Chronic hepatic encephalopathy",[],[2480]],[7112,"Temporal cortical atrophy",[],[2120]],[7115,"Naso-orbital encephalocele",["Orbital encephalocele"],[7330]],[7117,"Corticospinal tract atrophy",[],[7372]],[7123,"Subcortical dementia",[],[726]],[7126,"Proximal amyotrophy",["Muscle atrophy, proximal","Proximal muscle atrophy","Proximal muscle wasting","Symmetric proximal muscular atrophy","Symmetrical, proximal limb muscle atrophy","Wasting of muscles near the body"],[3202]],[7129,"Cerebellar medulloblastoma",[],[2885]],[7131,"Acute demyelinating polyneuropathy",[],[7108]],[7132,"Pallidal degeneration",[],[2453,12157]],[7133,"Progressive peripheral neuropathy",["Progressive polyneuropathy"],[9830]],[7141,"Sensorimotor neuropathy",["Mixed polyneuropathy","Nerve damage causing decreased feeling and movement","Sensorimotor peripheral neuropathy"],[9830]],[7146,"Bilateral basal ganglia lesions",[],[2134]],[7149,"Distal upper limb amyotrophy",["Distal upper limb muscle atrophy"],[3693,9129]],[7153,"Progressive extrapyramidal movement disorder",[],[2071]],[7156,"Asymmetric limb muscle stiffness",[],[3552,9127]],[7158,"Progressive extrapyramidal muscular rigidity",["Progressive extrapyramidal rigidity"],[7076]],[7159,"Fluctuations in consciousness",[],[4372]],[7162,"Diffuse demyelination of the cerebral white matter",[],[7305]],[7164,"Slowed slurred speech",[],[1350]],[7165,"Periventricular heterotopia",["Periventricular gray matter heterotopia","Periventricular grey matter heterotopia","Periventricular neuronal heterotopia","Subependymal gray matter heterotopia","Subependymal grey matter heterotopia","Subependymal neuronal heterotopia"],[2282]],[7166,"Paroxysmal dyskinesia",["Involuntary dystonic or choreiform movements"],[4305]],[7178,"Motor polyneuropathy",["Peripheral motor neuropathy"],[9830]],[7179,"Absent smooth pursuit",[],[7772]],[7181,"Interosseus muscle atrophy",["Interosseous muscular atrophy"],[3693]],[7182,"Peripheral hypomyelination",[],[3130]],[7183,"Focal T2 hyperintense basal ganglia lesion",["Hyperintense lesions in the basal ganglia on MRI"],[12751]],[7185,"Loss of consciousness",["Fainting","Passing out"],[4372]],[7187,"Focal lissencephaly",[],[1339]],[7188,"Congenital facial diplegia",["Congenital bilateral facial palsy","Congenital bilateral facial weakness"],[1349]],[7190,"Neuronal loss in the cerebral cortex",[],[2538]],[7193,"Bilateral tonic-clonic seizure on awakening",["Generalised tonic-clonic seizures on awakening","Generalized tonic-clonic seizures on awakening","Morning generalised tonic-clonic seizures","Morning generalized tonic-clonic seizures"],[2069]],[7199,"Progressive spastic paraparesis",[],[2313]],[7200,"Episodic hypersomnia",["Idiopathic hypersomnia","Recurrent hypersomnia"],[1262]],[7201,"Cerebral artery atherosclerosis",["Plaque build-up in cerebral artery"],[2621,9145]],[7204,"Diffuse white matter abnormalities",[],[2500]],[7206,"Hemimegalencephaly",[],[1355]],[7207,"Photosensitive tonic-clonic seizure",["Photically induced tonic-clonic seizure","Photosensitive tonic-clonic seizures","Seizures, tonic-clonic, photosensitive"],[20216,25190]],[7208,"Irregular myelin loops",[],[30173]],[7209,"Facial paralysis",["Facial paresis"],[1293,3470,30319]],[7210,"Lower limb amyotrophy",[],[3202]],[7215,"Periodic hyperkalemic paralysis",["Hyperkalemic periodic paralysis"],[3768]],[7220,"Demyelinating motor neuropathy",[],[7108,7178]],[7221,"Progressive truncal ataxia",[],[2078]],[7229,"Intracerebral periventricular calcifications",[],[2514]],[7230,"Decreased distal sensory nerve action potential",[],[7078]],[7232,"Spinocerebellar tract disease in lower limbs",[],[2503]],[7233,"Clusters of axonal regeneration",[],[3450]],[7236,"Recurrent subcortical infarcts",[],[10993]],[7238,"Nonarteriosclerotic cerebral calcification",["Cerebral calcification, nonarteriosclerotic"],[2514]],[7239,"Congenital encephalopathy",[],[1298]],[7240,"Progressive gait ataxia",["Gait ataxia, progressive"],[2066]],[7249,"Decreased number of small peripheral myelinated nerve fibers",["Decreased number of small peripheral myelinated nerve fibres"],[3380]],[7250,"Recurrent external ophthalmoplegia",[],[544]],[7256,"Abnormal pyramidal sign",["Corticospinal signs","Pyramidal signs","Pyramidal tract signs"],[2423,2493]],[7258,"Severe demyelination of the white matter",[],[7305]],[7260,"Type II lissencephaly",["Cobblestone lissencephaly","Lissencephaly type II","Type 2 lissencephaly"],[1339]],[7262,"Symmetric peripheral demyelination",[],[11096]],[7263,"Spinocerebellar atrophy",[],[1272]],[7265,"Absent mesencephalon",[],[34258]],[7266,"Cerebral dysmyelination",["Areas of dysmyelination on MRI","Dysmyelination of the brain","White matter dysmyelination/demyelination"],[2500,11400]],[7267,"Chronic axonal neuropathy",["Chronic sural axonal neuropathy"],[3477]],[7268,"Aprosencephaly",[],[7364]],[7269,"Spinal muscular atrophy",["Spinal muscle degeneration","Spinal muscle wasting"],[3202]],[7270,"Atypical absence seizure",["Atypical absence","Atypical absence seizures","Atypical petit mal seizures"],[2121]],[7271,"Occipital myelomeningocele",[],[2436]],[7272,"Progressive psychomotor deterioration",["Progressive mental and motor deterioration"],[2344]],[7274,"Recurrent bacterial meningitis",[],[6946,5210217]],[7277,"Paucity of anterior horn motor neurons",[],[2450]],[7280,"Acute infantile spinal muscular atrophy",[],[7269]],[7281,"Developmental stagnation",["Developmental arrest"],[12759]],[7285,"Facial palsy secondary to cranial hyperostosis",["Facial palsy caused by enlargement of cranial bones","Facial palsy caused by excessive growth of facial bones","Facial palsy caused by overgrowth of cranial bones","Facial palsy secondary to hypertrophy of cranial bones"],[5465]],[7286,"Horizontal jerk nystagmus",[],[666]],[7289,"Limb fasciculations",["Limb fasciculation"],[2380,10546,40064]],[7291,"Posterior fossa cyst",[],[932,10576]],[7293,"Anterior sacral meningocele",[],[5765]],[7295,"Chaotic rapid conjugate ocular movements",[],[12547]],[7299,"Dysfunction of lateral corticospinal tracts",[],[2493]],[7301,"Oromotor apraxia",["Oral-motor apraxia"],[2186]],[7302,"Bipolar affective disorder",["Bipolar depression","Bipolar disorder","Manic depressive"],[25783]],[7305,"CNS demyelination",["Demyelination in central white matter"],[11400]],[7307,"Rapid neurologic deterioration",[],[2344]],[7308,"Extrapyramidal dyskinesia",[],[2071,100660]],[7311,"Short stepped shuffling gait",["Short stepped shuffling walk"],[2362]],[7313,"Cerebral degeneration",["Neuroaxonal degeneration in the brain"],[7369]],[7321,"Deep white matter hypodensities",["Deep cerebral white matter hypodensities"],[7103]],[7325,"Generalized dystonia",["Generalised dystonia"],[1332]],[7326,"Progressive choreoathetosis",[],[1266]],[7327,"Mixed demyelinating and axonal polyneuropathy",[],[9830,12447]],[7328,"Impaired pain sensation",["Decreased pain sensation","Decreased pinprick sensation"],[10832]],[7330,"Frontoethmoidal encephalocele",["Frontal encephalocele"],[7035]],[7332,"Focal hemifacial clonic seizure",["Hemifacial seizures"],[2266]],[7333,"Hypoplasia of the frontal lobes",["Frontal lobe hypoplasia","Hypoplastic frontal lobes","Underdeveloped frontal lobe"],[2538,6872]],[7334,"Bilateral tonic-clonic seizure with focal onset",["Focal seizure with secondary generalisation","Focal seizure with secondary generalization","Focal to bilateral tonic-clonic seizure","Generalised tonic-clonic seizure with focal onset","Generalised tonic-clonic seizure with partial onset","Generalised tonic-clonic seizures with focal onset","Generalized tonic-clonic seizure with focal onset","Generalized tonic-clonic seizure with partial onset","Generalized tonic-clonic seizures with focal onset","Partial seizure with secondary generalisation","Partial seizure with secondary generalization","Partial seizures with secondary generalisation","Partial seizures with secondary generalization","Secondarily generalised tonic-clonic seizure","Secondarily generalised tonic-clonic seizures","Secondarily generalized tonic-clonic seizure","Secondarily generalized tonic-clonic seizures","Secondary generalised tonic clonic seizures","Secondary generalised tonic-clonic seizures","Secondary generalized tonic clonic seizures","Secondary generalized tonic-clonic seizures"],[2069,7359]],[7335,"Recurrent encephalopathy",["Recurrent cerebellar and extrapyramidal encephalopathy"],[1298]],[7338,"Hypermetric saccades",[],[570]],[7340,"Lower limb muscle weakness",["Leg weakness","Lower extremity weakness","Lower limb weakness","Muscle weakness in lower limbs"],[3690]],[7341,"Diffuse swelling of cerebral white matter",[],[2500]],[7343,"Abnormal morphology of the limbic system",["Limbic malformation"],[100547]],[7344,"Atrophy/Degeneration involving the spinal cord",["Atrophic and degenerative changes in the spinal cord"],[2143,7367]],[7346,"Subcortical white matter calcifications",[],[2500,2514]],[7348,"Hypoplasia of the pyramidal tract",[],[7363]],[7350,"Upper limb hyperreflexia",["Hyperreflexia in upper limbs"],[1347]],[7351,"Upper limb postural tremor",["Postural tremor of arms"],[2174,200085]],[7352,"Cerebellar calcifications",[],[1317,10766]],[7354,"Amyotrophic lateral sclerosis",["Lou Gehrig's disease"],[7373]],[7359,"Focal-onset seizure",["Focal onset seizure","Focal seizure","Focal seizures","Focal-onset seizures","Partial seizure","Partial seizures","Seizure affecting one half of brain"],[1250]],[7360,"Aplasia/Hypoplasia of the cerebellum",["Absent/small cerebellum","Absent/underdeveloped cerebellum","Atrophy/Degeneration affecting the cerebellum","Atrophy/Hypoplasia of the cerebellum","Cerebellar hypoplasia/atrophy"],[1317,2977]],[7361,"Abnormal pons morphology",["Abnormality of the pons"],[2363,11283]],[7362,"Aplasia/Hypoplasia of the brainstem",["Absent/small brainstem","Absent/underdeveloped brainstem"],[2363,2977]],[7363,"Aplasia/Hypoplasia of the pyramidal tract",[],[2062,2977]],[7364,"Aplasia/Hypoplasia of the cerebrum",["Absent/small cerebrum","Absent/underdeveloped cerebrum"],[2060,2977]],[7365,"Aplasia/Hypoplasia involving the corticospinal tracts",[],[2492,2977]],[7366,"Atrophy/Degeneration affecting the brainstem",["Brainstem atrophy"],[2363,7367]],[7367,"Atrophy/Degeneration affecting the central nervous system",["Atrophy/Degeneration affecting the CNS"],[2011]],[7369,"Atrophy/Degeneration affecting the cerebrum",[],[2060,2977,12444]],[7370,"Aplasia/Hypoplasia of the corpus callosum",["Absent/hypoplastic corpus callosum","Agenesis/hypoplastic corpus callosum","Complete or partial absence of the corpus callosum","Hypoplasia or absence of the corpus callosum","Hypoplastic or absent corpus callosum"],[7364,33725]],[7371,"Corpus callosum atrophy",["Atrophic corpus callosum","Atrophy of the corpus callosum","Atrophy/Degeneration of the corpus callosum"],[7369,12762,33725]],[7372,"Atrophy/Degeneration involving the corticospinal tracts",[],[2492,7367]],[7373,"Motor neuron atrophy",["Motor neuron degeneration"],[2450,7367]],[7374,"Atrophy/Degeneration involving the caudate nucleus",[],[2339,7369]],[7375,"Abnormal septum pellucidum morphology",["Abnormality of the septum pellucidum"],[2060]],[7376,"Abnormal choroid plexus morphology",[],[2118]],[7377,"Abnormality of somatosensory evoked potentials",["Abnormality of SSEPs"],[30177,430106]],[7378,"Neoplasm of the gastrointestinal tract",["GI tract tumor","GI tract tumour","Gastrointestinal tract neoplasia","Gastrointestinal tract neoplasm","Gastrointestinal tract tumor","Gastrointestinal tract tumour","Neoplasm of the GI tract"],[11024,34930]],[7379,"Neoplasm of the genitourinary tract",["Genitourinary tract neoplasm","Genitourinary tract tumors","Genitourinary tract tumours","Neoplasm of the GU tract","Genitourinary tract neoplasia"],[119,11793]],[7380,"Facial telangiectasia",["Facial telangiectatic vessels","Telangiectasia, facial"],[100585]],[7381,"Congenital exfoliative erythroderma",[],[1019]],[7383,"Congenital localized absence of skin",["Congenital localised absence of skin","Congenital localised skin absence","Congenital localized skin absence"],[8065]],[7384,"Aberrant melanosome maturation",[],[11125]],[7385,"Aplasia cutis congenita of scalp",["Defect of scalp","Focal absence of scalp tissue","Scalp defect","Solitary scalp defect","Scalp aplasia cutis congenita"],[1057]],[7387,"Hypoplastic sweat glands",["Underdeveloped sweat glands"],[11135]],[7390,"Hyperkeratosis with erythema",[],[962]],[7392,"Excessive wrinkled skin",[],[8067,100678]],[7394,"Prominent superficial blood vessels",["Prominent superficial vasculature"],[11276]],[7395,"Postnatal-onset ichthyosiform erythroderma",["Postnatal-onset ichthyosis"],[8064]],[7396,"Early cutaneous photosensitivity",["Sun sensitivity occurring early in life"],[992]],[7397,"Axillary apocrine gland hypoplasia",[],[11135]],[7398,"Asymmetric, linear skin defects",[],[8065]],[7400,"Irregular hyperpigmentation",[],[953]],[7401,"Macular atrophy",[],[608,1105]],[7402,"Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines",[],[9123]],[7403,"Hypertrophy of skin of soles",["Thick skin of soles"],[100872]],[7404,"Nonepidermolytic palmoplantar hyperkeratosis",["Nonepidermolytic palmoplantar keratoderma"],[972]],[7406,"Hyperpigmentation of eyelids",["Dark eyelids","Brown eyelids","Pigmentation of eyelids"],[492,7400]],[7407,"Excessive skin wrinkling on dorsum of hands and fingers",["Excessive skin wrinkling on back of hands and fingers"],[7392]],[7408,"Tegumentary leishmaniasis susceptibility",[],[5386]],[7410,"Palmoplantar hyperhidrosis",["Excessive sweating of palms and soles","Hyperhidrosis of palms and soles"],[6089,100872]],[7411,"Hypoplastic-absent sebaceous glands",[],[8065]],[7412,"Macular hyperpigmented dermopathy",[],[1034]],[7413,"Nevus flammeus of the forehead",["Port-wine stain on forehead"],[1052]],[7414,"Neonatal wrinkled skin of hands and feet",["Wrinkled skin of hands and feet in newborn"],[100678]],[7417,"Discoid lupus rash",["Discoid lupus erythematosus"],[988]],[7418,"Alopecia totalis",["Total alopecia"],[1596]],[7420,"Spontaneous hematomas",[],[1933]],[7421,"Telangiectases of the cheeks",["Telangiectasia on the cheeks"],[7380]],[7425,"Hyperextensible skin of face",["Hyperelastic face skin","Stretchable face skin"],[7458]],[7427,"Reticulated skin pigmentation",["Reticular pigmentation pattern","Reticulate skin pigmentation"],[1000]],[7428,"Telangiectasia of the oral mucosa",["Angioectasia of the oral mucosa","Angioectasia of the oral mucous membrane","Spider veins of the oral mucosa","Telangiectasia of the oral mucous membrane"],[228]],[7429,"Few cafe-au-lait spots",[],[957]],[7430,"Generalized edema",["Generalised oedema","Generalised tissue oedema","Generalized tissue edema"],[969]],[7431,"Congenital ichthyosiform erythroderma",["Congenital ichthyosis","Ichthyosis, congenital"],[8064]],[7432,"Intermittent generalized erythematous papular rash",["Intermittent generalised erythematous papular rash"],[200034]],[7434,"Plaque-like facial hemangioma",["Hemangioma, facial, plaque-like"],[329]],[7437,"Multiple cutaneous leiomyomas",[],[8069]],[7438,"Mottled pigmentation of the trunk and proximal extremities",[],[1070]],[7439,"Generalized keratosis follicularis",["Generalised keratosis follicularis"],[11368]],[7440,"Generalized hyperpigmentation",["Generalised hyperpigmentation"],[953]],[7441,"Hyperpigmented/hypopigmented macules",[],[9123,12733]],[7443,"Partial albinism",["Congenital partial albinism on face, trunk, or limbs","Congenital partial leucoderma","Partial absent skin pigmentation"],[1010]],[7446,"Palmoplantar blistering",[],[33800,40211,100872]],[7447,"Diffuse palmoplantar hyperkeratosis",["Diffuse palmoplantar keratoderma","Hyperkeratosis, diffuse palmoplantar"],[972]],[7448,"Hyperkeratosis over edematous areas",[],[962,969]],[7449,"Confetti-like hypopigmented macules",[],[20073]],[7450,"Increased groin pigmentation with raindrop depigmentation",[],[7400,9123]],[7451,"Ipsilateral lack of facial sweating",[],[25276]],[7452,"Midface capillary hemangioma",["Midfacial capillary hemangioma"],[996]],[7453,"Flexural lichenification",["Lichenification in skin folds"],[100725]],[7455,"Adermatoglyphia",[],[7477]],[7456,"Progressive reticulate hyperpigmentation",[],[7400]],[7457,"Prominent veins on trunk",[],[1015]],[7458,"Focal hyperextensible skin",[],[974]],[7459,"Generalized anhidrosis",["Generalised anhidrosis","Generalised anhydrosis","Generalised inability to sweat","Generalized anhydrosis","Generalized inability to sweat"],[25276]],[7460,"Autoamputation of digits",[],[1218,5922]],[7461,"Hemangiomatosis",[],[1028]],[7462,"Bitot spots of the conjunctiva",["Bitot's spots"],[502]],[7464,"Sparse facial hair",[],[8070]],[7465,"Honeycomb palmoplantar hyperkeratosis",[],[972]],[7466,"Midfrontal capillary hemangioma",[],[996]],[7468,"Perifollicular hyperkeratosis",[],[962,31285]],[7469,"Palmoplantar cutis gyrata",["Cutis gyrata of palms and soles"],[7477,40211,100872]],[7470,"Periarticular subcutaneous nodules",[],[1482]],[7471,"Axillary and groin hyperpigmentation and hypopigmentation",[],[9123]],[7473,"Crusting erythematous dermatitis",[],[11123]],[7475,"Congenital bullous ichthyosiform erythroderma",["Bullous congenital ichthyosiform erythroderma","Epidermolytic hyperkeratosis"],[7431]],[7477,"Abnormal dermatoglyphics",["Abnormal fingerprints","Dermatoglyphic abnormalities"],[11356]],[7479,"Congenital nonbullous ichthyosiform erythroderma",["Collodion baby","Congenital lamellar ichthyosis","Congenital non-bullous ichthyosis","Ichthyosis lammellaris","Ichthyosis, congenital, nonblistering","Nonbullous congenital ichthyosiform erythroderma","Nonbullous congenital ichthyosis"],[7431]],[7480,"Decreased sweating due to autonomic dysfunction",[],[966]],[7481,"Hyperpigmented nevi",[],[995]],[7482,"Generalized papillary lesions",["Generalised papillary lesions"],[11354]],[7483,"Depigmentation/hyperpigmentation of skin",[],[1000]],[7485,"Absence of subcutaneous fat",["Absent fat below the skin","General absence of subcutaneous fat","Lack of fatty tissue below the skin"],[8887]],[7486,"Cavernous hemangioma of the face",[],[1048]],[7488,"Diffuse skin atrophy",[],[4334]],[7489,"Diffuse telangiectasia",["Diffuse telangiectases","Telangiectases, random body distribution"],[1009]],[7490,"Linear arrays of macular hyperkeratoses in flexural areas",[],[962]],[7494,"Discrete 2 to 5-mm hyper- and hypopigmented macules",[],[7441]],[7495,"Prematurely aged appearance",["Precociously senile appearance"],[11354]],[7497,"Focal friction-related palmoplantar hyperkeratosis",["Hyperkeratosis, palmoplantar, focal friction-related"],[972]],[7499,"Recurrent staphylococcal infections",[],[2718]],[7500,"Decreased number of sweat glands",["Decreased sweat glands","Decreased sweat pores"],[971]],[7501,"Streaks of hyperkeratosis along each finger onto the palm",[],[962]],[7502,"Follicular hyperkeratosis",["Hyperkeratosis follicularis"],[962]],[7503,"Generalized ichthyosis",["Generalised ichthyosis"],[8064]],[7504,"Diffuse slow skin atrophy",[],[7488]],[7505,"Progressive hyperpigmentation",[],[953]],[7506,"Congenital absence of skin of limbs",["Missing skin on limbs since birth"],[7383]],[7508,"Punctate palmar hyperkeratosis",[],[10765]],[7509,"Patchy hypo- and hyperpigmentation",["Patchy hypo- and hyper-pigmentation"],[9123]],[7510,"Focal dermal aplasia/hypoplasia",[],[8065]],[7511,"Mottled pigmentation of photoexposed areas",[],[1070]],[7513,"Generalized hypopigmentation",["Fair skin","Generalised hypopigmentation","Pale pigmentation"],[1010]],[7514,"Edema of the dorsum of hands",["Edema of dorsum of hands","Oedema of dorsum of hands","Oedema of the dorsum of hands"],[969]],[7515,"Hypoplastic pilosebaceous units",[],[8065]],[7516,"Redundant skin on fingers",["Extra skin on fingers"],[1582]],[7517,"Palmoplantar cutis laxa",["Excessive wrinkled skin of palms and soles","Furrowed palms and soles","Increased wrinkles of palms and soles","Wrinkled palms and soles","Wrinkled skin of hands and feet"],[973,7605,100872]],[7521,"Irregular hyperpigmentation of back",[],[7400]],[7522,"Increased number of skin folds",[],[8067]],[7524,"Atypical neurofibromatosis",[],[1067]],[7525,"Yellow subcutaneous tissue covered by thin, scaly skin",[],[1001]],[7526,"Hypopigmented skin patches on arms",["Hypopigmented upper extremeity skin patches","Patchy loss of skin color on arms","Patchy loss of skin colour on arms"],[1053]],[7530,"Punctate palmoplantar hyperkeratosis",[],[972]],[7534,"Congenital posterior occipital alopecia",[],[11361]],[7535,"Hypopigmented streaks",[],[1010]],[7536,"Aplasia cutis congenita of midline scalp vertex",[],[4471]],[7537,"Severe photosensitivity",["Severe sun sensitivity"],[992]],[7541,"Frontal cutaneous lipoma",[],[8069,12032]],[7542,"Absent pigmentation of the ventral chest",[],[40007]],[7544,"Piebald skin depigmentation",["Piebaldism"],[1010]],[7545,"Congenital palmoplantar hyperkeratosis",["Congenital palmoplantar keratoderma","Congenital palmoplantar keratodermia","Congenital palmoplantar keratosis"],[972]],[7546,"Linear hyperpigmentation",[],[7400]],[7549,"Desquamation of skin soon after birth",[],[25723]],[7550,"Hypohidrosis or hyperhidrosis",["Lack of sweating or excessive sweating"],[25276]],[7552,"Abnormal subcutaneous fat tissue distribution",["Abnormal fat tissue distribution below the skin"],[1001]],[7553,"Congenital symmetrical palmoplantar keratosis",[],[972]],[7554,"Confetti hypopigmentation pattern of lower leg skin",[],[1010]],[7556,"Plantar hyperkeratosis",["Plantar hyperkeratoses"],[962,100872]],[7559,"Localized epidermolytic hyperkeratosis",["Localised epidermolytic hyperkeratosis"],[8064]],[7560,"Unusual dermatoglyphics",[],[5882]],[7565,"Multiple cafe-au-lait spots",["Multiple birthmarks","Multiple flat light-brown marks on skin"],[957]],[7566,"Index finger dermatoglyphic radial loop",[],[5882]],[7569,"Generalized seborrheic dermatitis",["Generalised seborrheic dermatitis","Generalised seborrheic eczema","Generalized seborrheic eczema"],[1051]],[7570,"Hyperkeratosis lenticularis perstans",["Flegel disease"],[962]],[7572,"Hyperpigmented streaks",[],[7400]],[7573,"Late onset atopic dermatitis",["Late onset baby eczema"],[1047]],[7574,"Generalized bronze hyperpigmentation",["Bronze skin","Generalised bronze hyperpigmentation"],[7440]],[7576,"Palmar neurofibroma",["Palmar neurofibromas"],[34761,100871]],[7581,"Mediosternal, longitudinal streak of hypopigmentation",[],[7535]],[7583,"Telangiectasia macularis eruptiva perstans",[],[1009]],[7585,"Skin fragility with non-scarring blistering",[],[1030]],[7586,"Telangiectases producing 'marbled' skin",[],[100585]],[7587,"Numerous pigmented freckles",[],[1000]],[7588,"Reticular hyperpigmentation",["Reticulate hyperpigmentation"],[7400]],[7589,"Aplasia cutis congenita on trunk or limbs",[],[1057]],[7590,"Aplasia cutis congenita over posterior parietal area",[],[4476]],[7592,"Aplasia/Hypoplasia of the eccrine sweat glands",["Hypoplastic-absent eccrine sweat glands"],[11135]],[7595,"Redundant skin in infancy",["Excess skin in infancy"],[1582]],[7596,"Painful subcutaneous lipomas",["Painful noncancerous fat tissue tumor under the skin","Painful noncancerous fat tissue tumour under the skin"],[1031]],[7598,"Bilateral single transverse palmar creases",[],[954]],[7599,"Generalized reticulate brown pigmentation",["Generalised reticulate brown pigmentation"],[7440]],[7601,"Midline facial capillary hemangioma",[],[996]],[7602,"Complex palmar dermatoglyphic pattern",[],[1018]],[7603,"Freckles in sun-exposed areas",[],[5586]],[7605,"Excessive wrinkling of palmar skin",["Redundant, wrinkled skin of palms"],[7392,40211]],[7606,"Multiple cutaneous malignancies",[],[8069]],[7608,"Abnormal palmar dermal ridges",[],[1018]],[7609,"Hypoproteinemic edema",["Hypoproteinemic oedema"],[969]],[7610,"Blotching pigmentation of the skin",[],[1000]],[7613,"Spinous keratoses of palms and soles",[],[972]],[7616,"Nevus flammeus nuchae",["Port-wine stain on neck","Stork bite","Angel's kiss","Salmon patch"],[1052]],[7617,"Fine, reticulate skin pigmentation",[],[1000]],[7618,"Subcutaneous calcification",["Skin calcification"],[10766,11354]],[7620,"Cutaneous leiomyoma",["Cutaneous leiomyomas","Cutaneous leiomyomata"],[8069]],[7621,"Telangiectasia of extensor surfaces",[],[100585]],[7623,"Pigmentation anomalies of sun-exposed skin",["Abnormal pigmentation in sun-exposed skin"],[1000]],[7626,"Mandibular osteomyelitis",["Lower jaw bone infection","Osteomyelitis, especially of the mandible"],[277,2754]],[7627,"Mandibular condyle aplasia",["Underdevelopment of condylar process of mandible","Absence of the condylar head of mandible","Absence of the condylar neck of mandible","Absence of the condylar process of mandible","Failure of development of condylar head of mandible","Failure of development of condylar neck of mandible","Failure of development of the condylar process of mandible","Underdevelopment of condylar head of mandible","Underdevelopment of condylar neck of mandible","Agenesis of condylar head of mandible","Agenesis of condylar neck of mandible","Agenesis of condylar process of mandible"],[5790]],[7628,"Mandibular condyle hypoplasia",["Decreased size of condylar process of mandible","Decreased size of mandibular condyle","Hypoplasia of condylar process of mandible","Hypoplasia of mandibular condyle","Hypoplasia of subcondylar region of mandible","Small mandibular condyle","Hypoplasia of condylar head of mandible","Hypoplasia of condylar neck of mandible","Small condylar head of mandible","Small condylar neck of mandible","Hypotrophic condylar process of mandible","Hypotrophic mandibular condyle"],[5790]],[7633,"Bilateral microphthalmos",["Decreased size of both eyeballs","Decreased size of globes of eyes","Abnormally small eyeball on both sides","Microphthalmia, bilateral","Bilateral nanophthalmos"],[568]],[7634,"Nonarteritic anterior ischemic optic neuropathy",["Nonarteritic anterior ischaemic optic neuropathy"],[1138]],[7641,"Dyschromatopsia",["Color blindness","Colour blindness"],[551]],[7642,"Early-onset non-progressive night blindness",["Congenital night blindness","Congenital stationary night blindness","Night blindness since birth","Night blindness, congenital","Night blindness, congenital stationary","Night blindness, congenital stationary, complete","Night blindness, stationary"],[662]],[7643,"Peripheral tractional retinal detachment",["Peripheral traction retinal detachment","Tractional retinal detachment at the periphery of the retina"],[7917]],[7646,"Absent lower eyelashes",["Atrichia of lower eyelashes","Failure of development of lower eyelashes","Agenesis of lower eyelashes","Aplasia of lower eyelashes"],[561]],[7647,"Congenital extraocular muscle anomaly",[],[8049]],[7648,"Punctate cataract",["Punctate lenticular opacities"],[10920]],[7649,"Congenital hypertrophy of retinal pigment epithelium",[],[11512]],[7650,"Progressive ophthalmoplegia",[],[602]],[7651,"Ectropion of lower eyelids",["Lower eyelid folded out","Lower eyelid turned out","Everted lower eyelids"],[656]],[7655,"Eversion of lateral third of lower eyelids",[],[656]],[7656,"Lacrimal gland aplasia",["Absent tear gland"],[8038]],[7657,"Diffuse nuclear cataract",[],[100018]],[7658,"Large hyperpigmented retinal spots",[],[11512]],[7661,"Abnormality of chorioretinal pigmentation",[],[532]],[7663,"Reduced visual acuity",["Decreased central vision","Decreased clarity of vision","Decreased visual acuity","Poor visual acuity"],[505]],[7665,"Curly eyelashes",[],[499]],[7667,"Peripheral cystoid retinal degeneration",["Cystic retinal degeneration","Peripheral cystoid degeneration"],[7769]],[7668,"Impaired pursuit initiation and maintenance",[],[617]],[7670,"Abnormal vestibulo-ocular reflex",["Abnormal vestibuloocular reflex"],[1751]],[7675,"Progressive night blindness",[],[662]],[7676,"Hypoplasia of the iris",["Hypoplastic iris","Iris hypoplasia","Underdeveloped iris"],[8053]],[7677,"Vitelliform macular lesion",["Vitelliform macular lesions","Vitelliform-like macular lesions","Vitelliform macular dystrophy"],[30500]],[7678,"Lacrimal duct stenosis",["Narrowing of the tear duct","Nasolacrimal duct stenosis"],[579]],[7685,"Avascular peripheral retina",["Peripheral avascular retina"],[8046]],[7686,"Abnormal pupillary function",[],[12373]],[7687,"Unilateral ptosis",["Dropping of one upper eyelid"],[508]],[7688,"Undetectable light- and dark-adapted electroretinogram",["Absent cone and rod functions by electroretinogram","Absent rod-and cone-mediated responses on ERG"],[8323]],[7690,"Map-dot-fingerprint corneal dystrophy",[],[200020]],[7695,"Abnormal pupillary light reflex",[],[7686]],[7697,"Hypoplasia of the lower eyelids",["Small lower eyelid","Decreased size of lower eyelid","Underdevelopment of lower eyelid","Short lower eyelid","Hypotrophic lower eyelid"],[430009]],[7700,"Ocular anterior segment dysgenesis",["Anterior chamber cleavage defect","Anterior chamber cleavage disorder","Anterior chamber malformation","Anterior chamber mesodermal anomalies","Anterior segment developmental abnormality","Anterior segment dysgenesis","Anterior segment mesencyhmal dysgenesis","Anterior segment ocular dysgenesis"],[4328]],[7703,"Abnormal retinal pigmentation",["Abnormality of RPE","Abnormality of retinal pigment epithelium","Abnormality of retinal pigmentation","Retinal pigmentary anomaly","Abnormality of the retinal pigment epithelium"],[479]],[7704,"Paroxysmal involuntary eye movements",["Abnormal eye movements, paroxysmal"],[12547]],[7705,"Corneal degeneration",[],[481]],[7707,"Congenital aphakia",["Lens agenesis"],[8063,6001302]],[7708,"Absent inner eyelashes",[],[561]],[7709,"Band-shaped corneal dystrophy",[],[1131]],[7710,"Peripheral vitreous opacities",[],[4327]],[7715,"Weak extraocular muscles",[],[597]],[7716,"Uveal melanoma",["Intraocular melanoma"],[2861,100012]],[7717,"Chronic irritative conjunctivitis",[],[509]],[7720,"Flat cornea",["Cornea plana"],[100691]],[7721,"Saccular conjunctival dilatations",["Saccular conjunctival aneurysms"],[8054]],[7722,"Retinal pigment epithelial atrophy",[],[1105]],[7727,"Opacification of the corneal epithelium",["Superficial corneal opacities"],[7957]],[7728,"Congenital miosis",[],[616]],[7730,"Iris hypopigmentation",["Light eye color","Light eye colour","Reduced iris pigmentation"],[8034]],[7731,"Chorioretinal dysplasia",[],[532]],[7732,"Lacrimal gland hypoplasia",["Hypoplastic lacrimal gland","Underdeveloped tear gland"],[8038]],[7733,"Laterally curved eyebrow",[],[534]],[7734,"Enlarged lacrimal glands",["Enlarged tear gland"],[11482]],[7737,"Spicular pigmentation of the retina",["Bone corpuscle fundus pigmentation","Bone spicule pigmentation of the retina","Fundus with peripheral bony spicules","Retinal bone corpuscle pigmentation","Retinal pigmented bone spicules","Retinal 'bone corpuscle' pigmentation"],[580]],[7738,"Uncontrolled eye movements",[],[12547]],[7740,"Long eyelashes in irregular rows",[],[527]],[7747,"Monocular horizontal nystagmus",[],[666]],[7750,"Hypoplasia of the fovea",["Foveal hypoplasia"],[8060]],[7754,"Macular dystrophy",[],[556,1103]],[7755,"Juvenile epithelial corneal dystrophy",[],[200020]],[7759,"Opacification of the corneal stroma",["Cloudy cornea","Corneal stromal opacity","Cloudy corneas"],[7957,11492]],[7761,"Pericentral scotoma",[],[575]],[7763,"Retinal telangiectasia",[],[1009,8046]],[7765,"Deep anterior chamber",[],[593]],[7766,"Optic disc hypoplasia",["Hypoplastic optic discs"],[8058]],[7768,"Central retinal vessel vascular tortuosity",["Tortuosity of main retinal vessels"],[631]],[7769,"Peripheral retinal degeneration",[],[546]],[7772,"Impaired smooth pursuit",["Abnormality of visual tracking","Impairment of visual pursuit","Abnormal visual pursuit"],[617]],[7773,"Vitreoretinopathy",["Vitreoretinal abnormality","Vitreoretinal degeneration"],[4327]],[7774,"Hypoplasia of the ciliary body",[],[8055,12776]],[7776,"Sparse lower eyelashes",["Hypotrichosis of lower eyelashes","Partial absence of lower eyelashes","Scanty lower eyelashes","Thin lower eyelashes"],[653,40052]],[7777,"Chorioretinal scar",[],[532,100699]],[7778,"Posterior retinal neovascularization",["Neovascularization of peripheral and posterior retina","Posterior retinal neovascularisation"],[30666]],[7779,"Anterior segment of eye aplasia",[],[8062]],[7780,"Cortical pulverulent cataract",["Cataracts, cortical pulverulent"],[10693]],[7787,"Posterior subcapsular cataract",["Posterior subcapsular opacities of the lens","Posterior subcapsular cataracts"],[523]],[7791,"Patchy atrophy of the retinal pigment epithelium",[],[7722]],[7792,"Microsaccadic pursuit",[],[1152]],[7793,"Granular macular appearance",["Macular retinal pigment epithelial mottling"],[7814,8002]],[7795,"Anterior cortical cataract",[],[100019]],[7797,"Developmental retinal vascular malformation",["Retinal vascular malformation"],[8046]],[7799,"Conjunctival whitish salt-like deposits",[],[502]],[7800,"Increased axial length of the globe",["Globe elongated","Increased axial globe length","Increased front to back length of eyeball"],[1090]],[7802,"Granular corneal dystrophy",[],[1131]],[7803,"Monochromacy",["Complete achromatopsia","Total colorblindness"],[551]],[7807,"Optic nerve compression",[],[587,1293]],[7809,"Punctate corneal dystrophy",[],[1131]],[7811,"Horizontal pendular nystagmus",[],[666,6934,12043]],[7812,"Herpetiform corneal ulceration",["Dendritic corneal epithelial ulcer","Herpetiform corneal ulcers"],[12804]],[7813,"Nongranulomatous uveitis",[],[554]],[7814,"Retinal pigment epithelial mottling",["Focal hypopigmentation of the retinal pigment epithelium","RPE irregularity","RPE mottling","Retinal pigment epithelium irregularity","Salt and pepper retinal pigmentation","Salt and pepper retinopathy"],[7703]],[7817,"Horizontal supranuclear gaze palsy",[],[605]],[7818,"Central heterochromia",["Ring iris heterochromia"],[1100]],[7819,"Presenile cataracts",["Presenile cataract"],[518]],[7820,"Lacrimal punctal atresia",["Atretic lacrimal puncta","Atretic lacrimal punctum"],[11479]],[7822,"Central retinal exudate",[],[1147]],[7824,"Total ophthalmoplegia",["Complete ophthalmoplegia","Global paralysis of gaze","Total internal and external ophthalmoplegia"],[602]],[7827,"Nodular corneal dystrophy",[],[11494]],[7830,"Adult-onset night blindness",[],[662]],[7831,"Nonprogressive restrictive external ophthalmoplegia",[],[544]],[7832,"Pigmentation of the sclera",["Pigmentation of the outer white part of the eyeball"],[591]],[7833,"Anterior chamber synechiae",[],[593]],[7834,"Progressive cataract",["Cataract, progressive"],[518]],[7835,"S-shaped palpebral fissures",["S-shaped eyes","S-shaped opening between the eyelids"],[200005]],[7836,"Mosaic corneal dystrophy",[],[1131]],[7838,"Progressive ptosis",["Progressive drooping of upper eyelid"],[508]],[7840,"Long upper eyelashes",["Ciliary trichomegaly of upper eyelashes","Increased length of upper eyelashes"],[527,40051]],[7841,"Amyloid deposition in the vitreous humor",["Amyloid deposition in the vitreous humour","Vitreous amyloid deposits"],[4327,20015]],[7843,"Attenuation of retinal blood vessels",["Narrowing of blood vessels in back of eye"],[8046]],[7854,"Glaucomatous visual field defect",[],[1123]],[7856,"Punctate opacification of the cornea",["Punctate corneal opacities"],[7759]],[7858,"Chorioretinal lacunae",["Lacunar retinal depigmentation"],[532]],[7859,"Congenital horizontal nystagmus",["Nystagmus, congenital horizontal"],[666,6934]],[7862,"Retinal calcification",[],[10766,30506]],[7866,"Retinal infarction",[],[479]],[7867,"Restrictive partial external ophthalmoplegia",[],[7936]],[7872,"Choroidal hemangioma",[],[610,1028]],[7873,"Abnormally prominent line of Schwalbe",["Prominent Schwalbe lines"],[8048]],[7874,"Almond-shaped palpebral fissure",["Almond shaped eyes","Almond-shaped opening between the eyelids"],[200005]],[7875,"Congenital blindness",["Blindness present at birth","Congenital amaurosis"],[618]],[7879,"Allergic conjunctivitis",[],[509,12393]],[7880,"Marginal corneal dystrophy",[],[1131]],[7881,"Central corneal dystrophy",[],[11493]],[7885,"Slowed horizontal saccades",[],[514]],[7886,"Absent extraocular muscles",["Missing eye muscles","Absent ocular muscles"],[8049]],[7889,"Iridescent posterior subcapsular cataract",["Cataracts, posterior, subcapsular, iridescent"],[7787]],[7892,"Hypoplasia of the lacrimal punctum",["Hypoplasia of the lacrimal puncta","Hypoplastic lacrimal puncta"],[11479]],[7894,"Fundus hypopigmentation",["Decreased fundus pigmentation","Depigmented fundus","Hypopigmentation of the fundus"],[31605]],[7899,"Retinal nonattachment",["Congenital retinal non-attachment","Congenital retinal detachment"],[541]],[7900,"Hypoplastic lacrimal duct",["Underdeveloped tear duct"],[11481]],[7902,"Vitreous hemorrhage",["Vitreous haemorrhage"],[4327,11885]],[7903,"Paravenous chorioretinal atrophy",[],[533]],[7905,"Abnormal iris vasculature",["Abnormality of iris blood vessels"],[525,8047]],[7906,"Ocular hypertension",["Elevated IOP","Elevated intraocular pressure","High eye pressure","Increased IOP","Increased intraocular pressure","Raised IOP","Raised intraocular pressure"],[12633]],[7911,"Congenital bilateral ptosis",["Congenital drooping of both upper eyelids","Ptosis, bilateral congenital","Ptosis, congenital bilateral"],[1488,7970]],[7913,"Reticular retinal dystrophy",[],[7963]],[7915,"Polymorphous posterior corneal dystrophy",[],[11489,11491]],[7917,"Tractional retinal detachment",[],[541]],[7922,"Hypermyelinated retinal nerve fibers",["Hypermyelinated retinal nerve fibres","MRNF","Retinal striation"],[12447,20119,32028]],[7924,"Slow decrease in visual acuity",["Slow decrease in sharpness of vision","Subacute deterioration of visual acuity","Decreased visual acuity, slowly progressive"],[529]],[7925,"Lacrimal duct aplasia",["Absent tear duct"],[11481]],[7928,"Abnormal flash visual evoked potentials",[],[649]],[7929,"Peripheral retinal detachment",[],[541]],[7932,"Bilateral congenital mydriasis",[],[11499]],[7933,"Broad lateral eyebrow",["Lateral eyebrow flare","Wide lateral eyebrow"],[11229]],[7935,"Juvenile posterior subcapsular lenticular opacities",[],[7787]],[7936,"Restrictive external ophthalmoplegia",["Restrictive ophthalmoplegia","Restrictive external ophthalmoplegia, bilateral"],[544]],[7937,"Reticular pigmentary degeneration",["Fishnet retinal pigmentation","Honeycomb retinal degeneration","Reticular degeneration of the RPE"],[7769,11512]],[7939,"Blue cone monochromacy",["Blue cone monochromatism","Incomplete achromatopsia","S-cone monochromacy"],[11517]],[7941,"Limited extraocular movements",["Limited extraocular movement"],[496]],[7942,"Internal ophthalmoplegia",[],[602]],[7943,"Congenital stapes ankylosis",[],[381]],[7944,"Intermittent microsaccadic pursuits",[],[1152]],[7946,"Unilateral narrow palpebral fissure",["Narrow palpebral fissure, unilateral","Unequal size of opening between the eyelids"],[581]],[7947,"Pericentral retinitis pigmentosa",[],[510]],[7948,"Dense posterior cortical cataract",[],[10924]],[7950,"Peripapillary chorioretinal atrophy",[],[533]],[7957,"Corneal opacity",["Corneal clouding","Corneal opacities","Reduction of corneal clarity","Scarring or clouding of the cornea of the eye"],[481]],[7958,"Optic atrophy from cranial nerve compression",[],[648,1293]],[7962,"Speckled corneal dystrophy",[],[1131]],[7963,"Pattern dystrophy of the retina",[],[7754]],[7964,"Degenerative vitreoretinopathy",[],[7773]],[7965,"Undetectable visual evoked potentials",["Absence of visual evoked potentials","Non-detectable VEP","Undetectable VEP"],[649]],[7968,"Remnants of the hyaloid vascular system",["Congenital retinal septum","Persistent fetal vasculature","Persistent foetal vasculature","Persistent hyperplasia of primary vitreous","Persistent hyperplastic primary vitreous","Persistent hypertrophic primary vitreous","Persistent posterior fetal fibrovascular sheath of the lens","Persistent posterior foetal fibrovascular sheath of the lens","Persistent tunica vasculosa lentis"],[4327]],[7970,"Congenital ptosis",["Congenital drooping upper eyelid"],[508]],[7971,"Lamellar cataract",[],[10920]],[7973,"Retinal dysplasia",["Dysplasia/hypoplasia of the retina","Retinal dysgenesis","Retinal hypoplasia"],[479]],[7975,"Hypometric horizontal saccades",[],[571]],[7976,"Cerulean cataract",["Cataracts, congenital, cerulean"],[7648]],[7979,"Gaze-evoked horizontal nystagmus",["Nystagmus, horizontal, gaze-evoked","Nystagmus, horizontal gaze-evoked"],[640,666]],[7980,"Absent retinal pigment epithelium",[],[7894]],[7984,"ERG: Reduced dark-adapted b-wave amplitude",["Electronegative ERG","Electroretinogram: reduced b-wave amplitude","Reduced ERG amplitude of b-wave","Reduced amplitude of dark-adapted bright flash electroretinogram b-wave","Reduced electroretinogram rod b-wave"],[30478]],[7985,"Retinal arteriolar occlusion",["Blocked retinal arteriole","Blocked retinal artery"],[630]],[7986,"Increased retinal vascularity",[],[8046]],[7987,"Progressive visual field defects",[],[1123]],[7988,"Macular hypopigmentation",["Macular depigmentation"],[8002]],[7989,"Intraretinal exudate",[],[1147]],[7990,"Hypoplastic iris stroma",["Hypoplastic iris stoma","Iris stromal hypoplasia","Underdeveloped iris stroma"],[7676]],[7992,"Lattice retinal degeneration",[],[7769]],[7993,"Malformed lacrimal duct",["Malformed tear ducts"],[11481]],[7994,"Peripheral visual field loss",["Kalnienk vision","Loss of peripheral vision","Tunnel vision"],[1133]],[8000,"Decreased corneal reflex",["Decreased blink reflex","Reduced corneal reflex"],[34251]],[8001,"Foveal hyperpigmentation",[],[30493]],[8002,"Abnormal macular pigmentation",["Abnormality of macular pigmentation","Macular pigmentary changes"],[1103]],[8003,"Jerky ocular pursuit movements",["Jerky smooth pursuit"],[617]],[8007,"Primary congenital glaucoma",[],[1087]],[8009,"Three rows of eyelashes",["Triple row of eyelashes"],[8496]],[8011,"Peripheral opacification of the cornea",["Peripheral corneal opacity"],[7759]],[8019,"Superior lens subluxation",["Superior subluxated lens"],[1132]],[8020,"Cone dystrophy",["Progressive cone degeneration","Progressive cone dystrophy"],[556]],[8026,"Horizontal opticokinetic nystagmus",[],[666]],[8028,"Cystoid macular degeneration",["Cystic macular degeneration"],[608]],[8030,"Retinal arteritis",[],[630,12089,25188]],[8031,"Posterior Y-sutural cataract",["Posterior Y-sutural cataracts"],[10695]],[8034,"Abnormal iris pigmentation",[],[525]],[8037,"Absent anterior chamber of the eye",[],[593]],[8038,"Aplastic/hypoplastic lacrimal glands",["Absent/underdeveloped lacrimal glands","Absent/underdeveloped tear glands"],[11482]],[8039,"Subepithelial corneal opacities",[],[7727]],[8041,"Late onset congenital glaucoma",[],[1087]],[8043,"Focal retinal arteriolar constriction",["Constricted retinal arterioles","Narrow retinal arterioles","Retinal arteriolar constriction","Retinal arteriolar narrowing"],[630]],[8045,"Enlarged flash visual evoked potentials",["High flash visual evoked potentials"],[30462]],[8046,"Abnormal retinal vascular morphology",["Abnormality of retina blood vessels","Abnormality of the retinal vasculature"],[479,8047]],[8047,"Abnormality of the vasculature of the eye",["Abnormality of eye blood vessels"],[2597,12372]],[8048,"Abnormal line of Schwalbe morphology",["Abnormality of the line of Schwalbe"],[481]],[8049,"Abnormality of the extraocular muscles",[],[30669,40286]],[8050,"Abnormality of the palpebral fissures",["Abnormality of the opening between the eyelids","Deformity of the palpebral fissures","Malformation of the palpebral fissures"],[492]],[8052,"Retinal fold",["Retinal folds"],[479]],[8053,"Aplasia/Hypoplasia of the iris",["Absent/small iris","Absent/underdeveloped iris"],[525,8055,8062]],[8054,"Abnormal morphology of the conjunctival vasculature",["Abnormal morphology of the conjunctiva vasculature","Abnormal vasculature of the conjunctiva morphology","Abnormality of the vasculature of the conjunctiva"],[502,8047]],[8055,"Aplasia/Hypoplasia affecting the uvea",["Absent/underdeveloped uvea"],[553,8056]],[8056,"Aplasia/Hypoplasia affecting the eye",["Absent/small eye","Absent/underdeveloped eye"],[12372]],[8057,"Aplasia/Hypoplasia affecting the fundus",["Absent/small fundus"],[1098,8056]],[8058,"Aplasia/Hypoplasia of the optic nerve",["Absent/small optic nerve","Absent/underdeveloped optic nerve"],[587,8057]],[8059,"Aplasia/Hypoplasia of the macula",["Absent/underdeveloped macula"],[1103,8061]],[8060,"Aplasia/Hypoplasia of the fovea",["Absent/underdeveloped fovea"],[493]],[8061,"Aplasia/Hypoplasia of the retina",["Absent/small retina","Absent/underdeveloped retina"],[479,8057]],[8062,"Aplasia/Hypoplasia affecting the anterior segment of the eye",[],[7700,8056]],[8063,"Aplasia/Hypoplasia of the lens",["Absent/small lens","Absent/underdeveloped lens"],[517,8062]],[8064,"Ichthyosis",["Ichthyosiform abnormality of the skin","Ichthyotic skin","Hypertrophic ichthyosis"],[11368]],[8065,"Aplasia/Hypoplasia of the skin",["Absent/small skin","Absent/underdeveloped skin"],[11355]],[8066,"Abnormal blistering of the skin",["Blister","Blistering, generalised","Blistering, generalized","Blisters","Skin bullae","Skin blisters"],[11121]],[8067,"Abnormally lax or hyperextensible skin",["Abnormally loose or hyperelastic skin","Abnormally loose or stretchable skin"],[10647]],[8069,"Neoplasm of the skin",["Skin cancer (non-melanoma)","Dermatological tumors","Dermatological tumours","Skin tumors","Skin tumours","Tumor of the skin","Tumour of the skin","Neoplasia of the skin","Skin cancer"],[951,11793]],[8070,"Sparse hair",["Decreased hair growth","Decreased hair growth on body","Hypotrichosis","Marked hypotrichosis","Sparse hair since birth","Thin, sparse hair"],[11362]],[8071,"Maternal hypertension",[],[100603]],[8072,"Maternal virilization in pregnancy",[],[2686]],[8073,"Low maternal circulating estriol concentration",["Low maternal serum estriol"],[11436]],[8074,"Metatarsal periosteal thickening",[],[1832,30313]],[8076,"Osteoporotic tarsals",[],[9132]],[8078,"Thin metatarsal cortices",[],[1832]],[8079,"Absent fifth metatarsal",["Absent 5th long bone of foot","Absent 5th metatarsals","Aplasia of the fifth metatarsal bone"],[10744]],[8080,"Hallux varus",["Hitchhiker hallux","Hyperabducted big toe","Medially deviated halluces"],[10051]],[8081,"Pes valgus",["Valgus foot deformity","Everted heel","Heel valgus","Valgus deformity of the hindfoot"],[5210430]],[8082,"Medial deviation of the foot",[],[1760]],[8083,"2nd-5th toe middle phalangeal hypoplasia",["Underdeveloped 2nd-5th middle toe bones"],[3795]],[8087,"Nonossified fifth metatarsal",[],[8371]],[8089,"Abnormality of the fifth metatarsal bone",["Abnormality of the 5th long bone of foot"],[1832]],[8090,"Ankylosis of feet small joints",[],[1760,31013]],[8093,"Short 4th toe",["Short fourth toe"],[1831]],[8094,"Widely spaced toes",[],[1780]],[8095,"Osteolysis of talus",["Osteolysis of tali"],[8365,9134]],[8096,"Medially deviated second toe",[],[10326]],[8097,"Partial fusion of tarsals",[],[8368]],[8102,"Expanded metatarsals with widened medullary cavities",[],[1832]],[8103,"Delayed tarsal ossification",["Tarsal delayed ossification","Delayed ankle bone maturation"],[8369]],[8107,"Plantar crease between first and second toes",[],[1869]],[8108,"Advanced tarsal ossification",["Precociously ossified tarsal bones","Accelerated ankle bone maturation"],[8369]],[8110,"Equinovarus deformity",[],[5210430]],[8111,"Broad distal hallux",["Broad distal big toe"],[10055]],[8112,"Plantar flexion contracture",["Plantar flexion contractures"],[34677]],[8113,"Multiple plantar creases",[],[100872]],[8114,"Metatarsal diaphyseal endosteal sclerosis",[],[940,1832,100925]],[8115,"Clinodactyly of the 3rd toe",["Curvature of 3rd toe","3rd toe clinodactyly"],[1863,10332]],[8116,"Flexion limitation of toes",[],[1436]],[8117,"Shortening of the talar neck",[],[8365]],[8119,"Deformed tarsal bones",["Deformed ankle bones"],[1850]],[8122,"Calcaneonavicular fusion",[],[8368]],[8124,"Talipes calcaneovarus",[],[1883]],[8125,"Second metatarsal posteriorly placed",[],[1832]],[8127,"Bipartite calcaneus",["Delayed coalescence of bipartite calcanei","Delayed coalescence of calcaneal ossification centers","Delayed coalescence of calcaneal ossification centres","Delayed fusion of bipartite calcanei","Double calcaneal ossification center","Double calcaneal ossification centre","Extra calcaneal ossification center","Extra calcaneal ossification centre"],[8364]],[8131,"Tarsal stippling",["Punctate calcifications of tarsals","Punctate tarsal calcification"],[8369,10766,31051]],[8132,"Medial rotation of the medial malleolus",[],[1760]],[8133,"Distal tapering of metatarsals",[],[1832]],[8134,"Irregular tarsal ossification",["Irregular tarsal centers","Irregular tarsal centres","Irregular ankle bone maturation"],[8369]],[8138,"Equinus calcaneus",["Equinus deformity of the calcaneus","Hindfoot equinus"],[8364,5210430]],[8141,"Dislocation of toes",[],[1780,30311]],[8142,"Delayed calcaneal ossification",["Delayed heel bone maturation"],[8103,8364]],[8144,"Flattening of the talar dome",[],[1850]],[8148,"Impaired epinephrine-induced platelet aggregation",[],[3540]],[8150,"Elevated serum transaminases during infections",[],[2910]],[8151,"Prolonged prothrombin time",["Increased INR","Increased international normalised ratio","Increased international normalized ratio","Low factor II activity","Prolonged PT","Reduced factor II activity","Reduced prothrombin activity"],[32199]],[8153,"Periodic hypokalemic paresis",["Hypokalemic periodic paresis"],[3768]],[8155,"Mucopolysacchariduria",[],[3541]],[8158,"Hyperapobetalipoproteinemia",[],[3119]],[8160,"3-hydroxydicarboxylic aciduria",[],[3215]],[8161,"Absent leukocyte alkaline phosphatase",["Absent leukocyte ALP"],[4852]],[8162,"Asymptomatic hyperammonemia",["Hyperammonemia, asymptomatic"],[1987]],[8163,"Decreased circulating cortisol level",["Decreased cortisol production","Glucocorticoid insufficiency","Hypocortisolemia","Low blood cortisol level","Low to undetectable plasma cortisol","Plasma cortisol low","Hypocortisolism"],[11731]],[8166,"Decreased beta-galactosidase activity",["Beta-galactosidase deficiency in fibroblasts and white blood cells","Beta-galactosidase-1 deficiency","Decreased beta galactosidase activity"],[4342]],[8167,"Very long chain fatty acid accumulation",[],[32243]],[8169,"Reduced factor VII activity",["Factor VII deficiency"],[10988]],[8176,"Neonatal unconjugated hyperbilirubinemia",[],[2904]],[8178,"Abnormal cartilage matrix",[],[2763]],[8179,"Decreased Arden ratio of electrooculogram",["Decreased Arden ratio of EOG"],[30454]],[8180,"Mildly elevated creatine kinase",["Mildly elevated CPK","Mildly elevated creatine phosphokinase","Mildly elevated serum CK","Mildly elevated serum CPK","Mildly elevated serum phospho-CK","Mildly increased creatine kinase","Mildly increased serum creatine kinase","Moderately elevated serum CK","Moderately elevated serum CPK","Moderately increased serum creatine kinase"],[3236]],[8181,"Abetalipoproteinemia",[],[3563]],[8182,"Adrenocortical hypoplasia",["Small adrenal cortex"],[849]],[8185,"Precocious puberty in males",["Early onset of puberty in males","Male precocious puberty"],[826]],[8186,"Adrenocortical cytomegaly",[],[11732]],[8187,"Absence of secondary sex characteristics",["No secondary sexual characteristics at puberty"],[8373]],[8188,"Thyroid dysgenesis",["Thyroid dysplasia"],[11772]],[8189,"Insulin insensitivity",[],[11014]],[8191,"Thyroid agenesis",["Athyroidal hypothyroidism"],[33079]],[8193,"Primary gonadal insufficiency",[],[8373]],[8194,"Multiple pancreatic beta-cell adenomas",[],[8261]],[8197,"Absence of pubertal development",[],[8373]],[8198,"Congenital hypoparathyroidism",["Neonatal hypoparathyroidism"],[829]],[8200,"Primary hyperparathyroidism",[],[843]],[8202,"Reduced circulating prolactin concentration",["Prolactin deficiency"],[40086]],[8204,"Precocious puberty with Sertoli cell tumor",["Precocious puberty with Sertoli cell tumour"],[826,100619]],[8205,"Insulin-dependent but ketosis-resistant diabetes",[],[5978]],[8207,"Primary adrenal insufficiency",["Adrenocortical insufficiency","Primary adrenocortical failure","Addison disease","Addison's disease"],[846]],[8208,"Parathyroid hyperplasia",["Enlarged parathyroid glands"],[11766]],[8209,"Premature ovarian insufficiency",["Climacterium praecox","Early menopause","Hypergonadotropic amenorrhea","Menopause praecox","Premature menopause","Premature ovarian failure","Primary ovarian insufficiency"],[31066]],[8211,"Parathyroid agenesis",["Parathyroid absence","Parathyroid aplasia"],[11768]],[8213,"Gonadotropin deficiency",["Pituitary gonadotropin deficiency"],[830]],[8214,"Decreased serum estradiol",[],[25133]],[8216,"Adrenal gland dysgenesis",["Adrenal gland dysplasia","Dysplastic adrenal glands"],[11732]],[8221,"Adrenal hyperplasia",["Enlarged adrenal glands"],[11732]],[8222,"Female infertility",[],[789,868]],[8223,"Compensated hypothyroidism",["Mild hypothyroidism","Subclinical hypothyroidism"],[821]],[8225,"Thyroid follicular hyperplasia",[],[8249]],[8226,"Androgen insufficiency",["Hypoandrogenism"],[8373]],[8227,"Pituitary resistance to thyroid hormone",[],[11747]],[8229,"Thyroid lymphangiectasia",["Thyroid lymphangiectasis"],[11772,31842]],[8231,"Macronodular adrenal hyperplasia",[],[8221]],[8232,"Elevated circulating follicle stimulating hormone level",["Elevated FSH level","Elevated follicle stimulating hormone","Elevated follicle-stimulating hormone","Elevated plasma follicle stimulating hormone","Increased circulating follicle stimulating hormone level"],[837,30346]],[8233,"Decreased circulating progesterone",["Decreased serum progesterone"],[31212]],[8236,"Isosexual precocious puberty",[],[826]],[8237,"Hypothalamic hypothyroidism",["Tertiary hypothyroidism"],[11787,12285]],[8239,"Adrenal medullary hypoplasia",["Small adrenal medulla"],[835]],[8240,"Secondary growth hormone deficiency",[],[824]],[8242,"Pseudohypoaldosteronism",[],[11733]],[8244,"Congenital adrenal hypoplasia",["Congenital adrenal gland hypoplasia"],[835]],[8245,"Pituitary hypothyroidism",["Low thyroid gland function due to abnormal pituitary gland","Secondary hypothyroidism","TSH deficient hypothyroidism","Thyroid stimulating hormone deficiency","Thyrotropin deficiency"],[830,11787]],[8247,"Euthyroid hyperthyroxinemia",["Asymptomatic hyperthyroxinemia"],[2926]],[8249,"Thyroid hyperplasia",["Large thyroid"],[11772]],[8251,"Congenital goiter",["Congenital goitre"],[853]],[8255,"Transient neonatal diabetes mellitus",[],[857]],[8256,"Adrenocortical adenoma",["Adrenocortical adenomas"],[100641]],[8258,"Congenital adrenal hyperplasia",[],[8221]],[8259,"Adrenocorticotropin receptor defect",["ACTH receptor defect","ACTHR defect","Adrenocorticotropic hormone-resistant adrenal insufficiency"],[11734]],[8261,"Pancreatic islet cell adenoma",[],[2894,6476,30405]],[8263,"Thyroid defect in oxidation and organification of iodide",[],[2926]],[8264,"Neutrophil inclusion bodies",[],[11992]],[8265,"Mitochondrial lysine transport defect",[],[3287]],[8269,"Increased red cell hemolysis by shear stress",[],[1878]],[8271,"Abnormal cartilage collagen",["Abnormal hyaline collagen","Abnormal type II collagen"],[2763]],[8272,"Renal tubular lysine transport defect",[],[124]],[8273,"Transient aminoaciduria",[],[3355]],[8275,"Abnormal light-adapted electroretinogram",["Abnormal cone-mediated electroretinogram"],[30466]],[8277,"Abnormal circulating zinc concentration",["Abnormal blood zinc concentration","Abnormal zinc(2+) level","Abnormality of zinc homeostasis","Abnormal zinc metabolism"],[11030]],[8278,"Cerebellar cortical atrophy",["Cerebellar cortex degeneration"],[1272]],[8279,"Transient hyperlipidemia",[],[3077]],[8281,"Acute hyperammonemia",["Hyperammonemia, acute"],[1987]],[8282,"Unconjugated hyperbilirubinemia",[],[2904]],[8283,"Fasting hyperinsulinemia",["High blood insulin levels while fasting"],[842]],[8288,"Nonketotic hyperglycinemia",[],[2154]],[8290,"Partial complement factor H deficiency",[],[5369]],[8291,"Pituitary corticotropic cell adenoma",["ACTH-producing pituitary adenoma","Corticotropin-secreting pituitary adenoma"],[2893]],[8293,"Long-chain dicarboxylic aciduria",[],[3215]],[8297,"Transient hyperphenylalaninemia",[],[10893]],[8301,"Dermatan sulfate excretion in urine",["Dermatan sulphate excretion in urine"],[8155]],[8303,"Olivary degeneration",[],[11441]],[8305,"Exercise-induced myoglobinuria",["Exercise-induced myoglobinuria in adults"],[2913]],[8306,"Abnormal iron deposition in mitochondria",[],[3287]],[8309,"Medium chain dicarboxylic aciduria",[],[3215]],[8311,"Spinal cord dorsal column hypomyelination",["Spinal cord posterior columns myelin loss"],[7305,11397]],[8314,"Decreased activity of mitochondrial complex II",["Respiratory complex II deficiency"],[8972]],[8315,"Decreased plasma free carnitine",[],[3234]],[8316,"Abnormal mitochondria in muscle tissue",["Abnormal mitochondria in muscle"],[3287,11805]],[8318,"Elevated leukocyte alkaline phosphatase",["Elevated leukocyte ALP"],[3155]],[8320,"Impaired collagen-induced platelet aggregation",[],[3540]],[8321,"Reduced factor X activity",["Decreased factor x activity","Factor X deficiency"],[10990]],[8322,"Abnormal mitochondrial morphology",["Abnormal mitochondrion morphology"],[12103]],[8323,"Abnormal light- and dark-adapted electroretinogram",["Abnormal rod and cone electroretinogram"],[30466]],[8326,"Reduced circulating vitamin B6 circulating",["Reduced circulating vitamin B6 level","Reduced vitamin b6 levels","Vitamin B6 deficiency"],[32476]],[8327,"Microscopic nephrocalcinosis",[],[121]],[8330,"Reduced von Willebrand factor activity",["Decreased von willebrand factor activity"],[12146]],[8331,"Elevated creatine kinase after exercise",["Elevated CK after exercise","Elevated CPK after exercise","Elevated creatine phosphokinase after exercise","Elevated phospho-CK after exercise","Elevated phospho-creatine kinase after exercise","Increased CK after exercise","Increased creatine kinase after exercise","Increased creatine phosphokinase after exercise","Increased phospho-CK after exercise","Increased phospho-creatine kinase after exercise"],[3236]],[8336,"Complex organic aciduria",[],[1992]],[8338,"Partial functional complement factor D deficiency",["Partial functional adipsin deficiency","Partial functional factor d deficiency"],[4431]],[8339,"Diaminoaciduria",[],[33100]],[8341,"Distal renal tubular acidosis",["Renal tubular acidosis, type I"],[1947]],[8344,"Elevated circulating branched-chain amino acid concentration",["Elevated branched-chain amino acid concentration","Elevated branched-chain amino acid level","Elevated branched-chain amino acid level in blood","Increased branched-chain amino acid concentration","Increased branched-chain amino acid level","Increased branched-chain amino acid level in blood"],[10892]],[8345,"Hypoplasia of the iris dilator muscle",["Hypoplasia of the pupil dilator muscle","Underdeveloped iris dilator muscle","Underdeveloped pupil dilator muscle"],[7676]],[8346,"Increased red cell sickling tendency",["Increased sickling of erythrocytes","Increased sickling of red cells"],[11895]],[8347,"Decreased activity of mitochondrial complex IV",["Respiratory complex IV deficiency"],[8972]],[8348,"Decreased circulating IgG2 concentration",["Decreased IgG2 level in blood","Decreased circulating IgG2 level","Immunoglobulin IgG2 deficiency","Reduced IgG2 levels"],[32135]],[8352,"Impaired platelet adhesion",["Impaired thrombocytes adhesion"],[11869]],[8353,"Neutral hyperaminoaciduria",[],[33100]],[8354,"Factor X activation deficiency",[],[8321]],[8357,"Reduced factor XIII activity",[],[10990]],[8358,"Hyperprolinemia",["Elevated proline concentration","Elevated proline level","Elevated proline level in blood","Increased proline concentration","Increased proline level","Increased proline level in blood","Prolinemia"],[10907]],[8360,"Neonatal hypoproteinemia",[],[3075]],[8361,"Corticospinal tract pallor",[],[2492]],[8362,"Aplasia/Hypoplasia of the hallux",["Absent/small big toe","Absent/underdeveloped big toe","Aplastic/hypoplastic halluces"],[1844,10760]],[8363,"Aplasia/Hypoplasia of the tarsal bones",["Absent/small ankle bone","Absent/underdeveloped ankle bone","Aplastic/hypoplastic tarsals"],[1850,6494]],[8364,"Abnormality of the calcaneus",["Abnormal heel bone"],[1850]],[8365,"Abnormal talus morphology",["Abnormal large bone of ankle"],[1850]],[8366,"Foot joint contracture",["Contractures involving the joints of the feet","Contractures of the foot joints","Joint contractures involving the joints of the feet"],[1760,5750]],[8368,"Tarsal synostosis",["Fused ankle bones","Synostosis involving tarsal bones","Synostosis of tarsal bones","Tarsal bone fusion","Tarsal bone synostosis","Tarsal fusion","Tarsal fusions"],[1850,9140,100266]],[8369,"Abnormal tarsal ossification",["Abnormal ossification of tarsal bones","Hardening of ankle bones","Abnormal maturation of ankle bones"],[1850,10675]],[8371,"Abnormal metatarsal ossification",["Abnormal ossification involving metatarsal bones","Abnormal maturation of long bone of foot"],[1832,10675]],[8372,"Abnormal circulating vitamin A concentration",[],[20350]],[8373,"Puberty and gonadal disorders",[],[818]],[8376,"Nasal dysarthria",["Breathy speech"],[1260]],[8383,"Slow-growing nails",[],[30807]],[8386,"Aplasia/Hypoplasia of the nails",["Absent/hypoplastic nails","Absent/small nails","Absent/underdeveloped nails","Nail aplasia/hypoplasia"],[1597]],[8388,"Abnormal toenail morphology",["Abnormality of the toenail","Abnormality of the toenails"],[1597]],[8390,"Recurrent loss of toenails and fingernails",["Recurrent shedding of toenails and fingernails"],[1806]],[8391,"Dystrophic fingernails",["Poor fingernail formation"],[1231,8404]],[8392,"Subungual hyperkeratosis",["Thickened, discolored skin under nail","Thickened, discoloured skin under nail"],[962,9723]],[8393,"Congenital curved nail of fourth toe",[],[8388]],[8394,"Congenital onychodystrophy",["Congenital malformed nails"],[2164]],[8396,"Chronic monilial nail infection",["Fungal infection of the nail"],[1597]],[8398,"Hypoplastic fifth fingernail",["Underdeveloped fifth fingernail","Underdeveloped fingernail of little finger","Underdeveloped fingernail of pinkie finger","Underdeveloped fingernail of pinky finger"],[1804]],[8399,"Circumungual hyperkeratosis",["Thick skin around nails"],[962,100803]],[8400,"Onycholysis of distal fingernails",["Detachment of outermost fingernails"],[40039]],[8401,"Onychogryphosis of toenails",["Overgrowth and curving of toenails"],[1805]],[8402,"Ridged fingernail",["Longitudinally grooved fingernails","Ridged fingernails"],[1231,1807]],[8404,"Nail dystrophy",["Dystrophic nails","Onychodystrophy","Poor nail formation"],[1597]],[8407,"Hyperconvex thumb nails",["Tightly curved thumb nail"],[1795]],[8410,"Subungual hyperkeratotic fragments",[],[962,9723]],[8414,"Lumbar kyphosis in infancy",["Hunched back in infancy","Round back in infancy"],[8454]],[8416,"Six lumbar vertebrae",[],[2946]],[8417,"Vertebral hypoplasia",["Underdeveloped vertebrae"],[8515]],[8418,"Squared-off platyspondyly",[],[926]],[8419,"Intervertebral disk degeneration",["Degeneration of intervertebral discs","Degeneration of intervertebral disks","Degenerative disc disease","Degenerative disk disease","Degenerative intervertebral disc","Degenerative intervertebral disk"],[5108]],[8420,"Punctate vertebral calcifications",[],[3468]],[8421,"Tall lumbar vertebral bodies",[],[4570]],[8422,"Vertebral wedging",["Wedge-shaped vertebrae","Wedged vertebrae","anterior wedging"],[3312]],[8423,"Spinal dysplasia",[],[925]],[8424,"Hypoplastic 5th lumbar vertebrae",["Underdeveloped 5th lumbar vertebrae"],[8417]],[8425,"Cuboid-shaped thoracolumbar vertebral bodies",[],[4634]],[8428,"Vertebral clefting",["Vertebral clefts"],[3312]],[8430,"Anterior beaking of lumbar vertebrae",["Anterior tongue-like protrusion of lumbar vertebral bodies"],[4568]],[8432,"Anterior wedging of L1",[],[8422]],[8433,"Reversed usual vertebral column curves",[],[925]],[8434,"Hypoplastic cervical vertebrae",["Cervical vertebrae hypoplasia","Underdeveloped cervical vertebrae"],[8417,11041]],[8435,"Absent in utero ossification of vertebral bodies",[],[4606]],[8436,"Absent/hypoplastic coccyx",["Absent/small tailbone","Absent/underdeveloped tailbone"],[8517]],[8437,"Bifid thoracic vertebrae",[],[3312]],[8438,"Vertebral arch anomaly",["Vertebral arch abnormalities"],[3312]],[8439,"Lumbar hemivertebrae",[],[2937]],[8440,"C1-C2 vertebral abnormality",[],[3319]],[8441,"Herniation of intervertebral nuclei",["Herniated disc","Herniated disk","Herniated intervertebral nuclei"],[5108]],[8442,"Vertebral hyperostosis",[],[3468,100774]],[8443,"Neuropathic spinal arthropathy",["Charcot spinal arthropathy","Spinal deformities","Spinal neuroarthropathy"],[925]],[8444,"Posterior wedging of vertebral bodies",["Posterior wedging"],[8422]],[8445,"Cervical spinal canal stenosis",["Narrow cervical spinal canal"],[3416]],[8447,"Hypoplastic coccygeal vertebrae",[],[8417]],[8449,"Progressive cervical vertebral spine fusion",[],[2949]],[8450,"Narrow vertebral interpedicular distance",["Interpedicular narrowing","Narrow interpedicular space","Narrow interpediculate distances","Narrowing of interpediculate distances"],[8438]],[8451,"Posterior vertebral hypoplasia",[],[8417]],[8452,"Wafer-thin platyspondyly",[],[4565]],[8453,"Congenital kyphoscoliosis",[],[2751]],[8454,"Lumbar kyphosis",["Lumbar gibbus deformity","Rounded lower back"],[100712]],[8455,"Dysplastic sacrum",["Absence of some of the sacral and coccygeal bones","Partial sacral agenesis","Sacral dysgenesis"],[5107]],[8456,"C2-C3 subluxation",[],[3308]],[8457,"Caudal interpedicular narrowing",["Caudal narrowing of interpedicular distances"],[8450]],[8458,"Progressive congenital scoliosis",[],[2650]],[8459,"Cervical vertebral agenesis",["Cervical vertebrae agenesis","Missing cervical vertebrae"],[11041]],[8460,"Hypoplastic spinal processes",["Underdeveloped spinal processes"],[8518]],[8461,"Cervical vertebral facet hypoplasia",[],[11041]],[8462,"Cervical instability",[],[5881]],[8463,"Central vertebral hypoplasia",[],[8417]],[8464,"Absent spinous processes of lower thoracic and lumbar vertebrae",[],[8516]],[8465,"Absent vertebra",["Absent vertebrae"],[8515]],[8467,"Thoracic hemivertebrae",["Midthoracic hemivertebrae"],[2937]],[8468,"Abnormal sacral segmentation",[],[8490]],[8469,"Cervical vertebral dysplasia",[],[46508]],[8470,"Lower thoracic interpediculate narrowness",["Narrowness of interpediculate distances in lower thoracic regions"],[8450]],[8472,"Prominent protruding coccyx",["Large tailbone","Prominent protruding tailbone"],[40016,40017]],[8473,"Narrow anterio-posterior vertebral body diameter",["Reduced anterior-posterior diameter of vertebral bodies","Reduced sagittal diameter of vertebrae"],[8479]],[8475,"Hypoplastic sacral vertebrae",[],[4590,8417]],[8476,"Irregular sclerotic endplates",["irregular, dense end plate"],[3301]],[8477,"Poorly ossified cervical vertebrae",[],[100856]],[8478,"Scheuermann-like vertebral changes",[],[10891]],[8479,"Hypoplastic vertebral bodies",["Small vertebrae","Small vertebral bodies","Underdeveloped back bones"],[3312,8417]],[8480,"Cervical spondylosis",["Cervical osteoarthritis","Cervical spine degeneration","Neck arthritis"],[46508]],[8482,"Asymmetry of spinal facet joints",[],[30870]],[8483,"Cervical vertebral bodies with decreased anteroposterior diameter",[],[3319]],[8484,"Thoracolumbar interpediculate narrowness",["Narrow thoracolumbar interpediculate distance"],[8450]],[8486,"Lumbar interpedicular narrowing",["Decreasing lumbar vertebrae interpediculate distance"],[8457]],[8488,"Anterior rounding of vertebral bodies",[],[3300]],[8489,"Spondylolisthesis at L5-S1",["Spondylolysis and spondylolisthesis of l5"],[3302]],[8490,"Sacral segmentation defect",[],[3422,5107]],[8491,"Premature anterior fontanel closure",[],[236]],[8494,"Inferior lens subluxation",["Inferior subluxated lens"],[1132]],[8496,"Multiple rows of eyelashes",["Extra rows of eyelashes","Double row of eyelashes","Two rows of eyelashes"],[499]],[8497,"Congenital craniofacial dysostosis",[],[4439]],[8499,"High hypermetropia",["High hyperopia","High-grade hypermetropia","Severe farsightedness","Severe long-sightedness"],[540]],[8504,"Moderate sensorineural hearing impairment",["Moderate neural deafness"],[407,12713]],[8507,"Static ophthalmoparesis",[],[597]],[8509,"Aged leonine appearance",[],[7495]],[8511,"Central posterior corneal opacity",[],[11493]],[8513,"Bilateral conductive hearing impairment",["Bilateral conductive deafness","Bilateral conductive hearing loss"],[405]],[8515,"Aplasia/Hypoplasia of the vertebrae",["Absent/small vertebrae","Absent/underdeveloped vertebrae"],[3468,8518]],[8516,"Abnormality of the vertebral spinous processes",[],[3312]],[8517,"Aplasia/Hypoplasia of the sacrum",["Absent/small sacrum","Absent/underdeveloped sacrum"],[5107,8518]],[8518,"Aplasia/Hypoplasia involving the vertebral column",["Absent/small backbone","Absent/small spine","Absent/small vertebral column","Absent/underdeveloped backbone","Absent/underdeveloped spine","Absent/underdeveloped vertebral column"],[925,9122]],[8519,"Abnormal coccyx morphology",["Abnormal tailbone","Abnormality of the coccyx"],[925,2644]],[8523,"Posterior helix pit",["Ear, posterior helical groove","Ear, posterior helical notch","Helix, posterior pit","Indentation in back of outer ear","Pits in posterior aspect of ear helices"],[11039]],[8527,"Congenital sensorineural hearing impairment",["Bilateral congenital sensorineural deafness","Congenital neurosensory deafness","Congenital perceptive deafness","Congenital sensorineural deafness","Congenital sensorineural hearing loss","Hearing loss, congenital sensorineural"],[407]],[8528,"Long hairs growing from helix of pinna",["Ear hair","Long hairs growing from helix of ear"],[11039]],[8529,"Absence of acoustic reflex",["Absence of acoustic middle ear muscle reflexes","Absent middle ear reflexes","Absent stapedius reflexes"],[40121]],[8537,"Cleft at the superior portion of the pinna",["Cleft at the superior portion of the ear"],[9902]],[8541,"Superiorly displaced ears",["High set ears"],[357]],[8542,"Low-frequency hearing loss",[],[365]],[8544,"Abnormally folded helix",[],[11039]],[8551,"Microtia",["Bilateral microtia","Hypoplasia of the external ear","Hypoplastic ears","Hypoplastic pinna","Small ears","Small pinnae","Underdeveloped ears"],[8772]],[8554,"Cochlear malformation",[],[375]],[8555,"Absent vestibular function",[],[1756]],[8559,"Hypoplastic superior helix",["Underdeveloped superior helices"],[8589]],[8568,"Vestibular areflexia",["Vestibular ataxia"],[7670]],[8569,"Microtia, second degree",["Cockleshell ear","Constricted helix type IV","Ear, grade II dysplasia","Mini ear","Severe cupped ear, type III","Shell ear","Snail ear"],[8551]],[8573,"Low-frequency sensorineural hearing impairment",["Low-frequency sensorineural hearing loss"],[407]],[8577,"Underfolded helix",["Poorly folded helices"],[8544]],[8583,"Underfolded superior helices",[],[8577]],[8586,"Hypoplasia of the cochlea",["Hypoplastic cochlea","Underdeveloped cochlea"],[11395]],[8587,"Mild neurosensory hearing impairment",["Mild neurosensory hearing loss"],[407,12712]],[8588,"Slit-like opening of the exterior auditory meatus",[],[402]],[8589,"Hypoplastic helices",["Underdeveloped helices"],[11039]],[8591,"Congenital conductive hearing impairment",["Congenital conductive deafness","Congenital conductive hearing loss"],[405]],[8593,"Prominent antitragus",["Enlarged antitragus","Hyperplastic antitragus","Hypertrophic antitragus"],[9896]],[8596,"Postlingual sensorineural hearing impairment",[],[11474]],[8598,"Mild conductive hearing impairment",["Conductive hearing loss, mild"],[405,12712]],[8605,"Unilateral external ear deformity",["Deformed external ear on one side"],[377]],[8606,"Supraauricular pit",["Pit above the ear","Supraauricular fistula","Supraauricular sinus","Supraauricular sinuses"],[100277]],[8607,"Progressive conductive hearing impairment",["Progressive conductive deafness"],[405]],[8608,"Hypertrophic auricular cartilage",[],[377]],[8609,"Abnormal middle ear morphology",["Middle ear malformation","Morphological abnormality of the middle ear"],[370]],[8610,"Infantile sensorineural hearing impairment",["Infantile sensorineural hearing loss"],[11474]],[8615,"Adult onset sensorineural hearing impairment",["Late sensorineural hearing loss","Sensorineural deafness, late-onset"],[407]],[8619,"Bilateral sensorineural hearing impairment",["Bilateral nerve deafness","Bilateral sensorineural deafness","Bilateral sensorineural hearing loss","Hearing loss, sensorineural, bilateral"],[407]],[8625,"Severe sensorineural hearing impairment",["Severe sensorineural deafness","Severe sensorineural hearing loss"],[407,12714]],[8628,"Abnormal stapes morphology",["Stapedial abnormalities"],[4452]],[8629,"Pulsatile tinnitus",[],[360]],[8631,"Ureteral dysgenesis",[],[25633]],[8633,"Agonadism",["Absent gonadal tissue","Gonadal agenesis"],[812]],[8635,"Urinary bladder wall hypertrophy",["Hypertrophic urinary bladder","Hypertrophy of the urinary bladder wall","Urinary bladder wall thickening"],[25487]],[8639,"Gonadal hypoplasia",["Underdeveloped gonad"],[812]],[8640,"Congenital macroorchidism",[],[53]],[8643,"Nephroblastomatosis",[],[11794]],[8647,"Pubertal developmental failure in females",[],[8197]],[8651,"Uric acid urolithiasis independent of gout",[],[791]],[8652,"Autonomic erectile dysfunction",["Impotence due to autonomic dysfunction"],[12332,100639]],[8653,"Crescentic glomerulonephritis",[],[99]],[8655,"Aplasia/Hypoplasia of the fallopian tube",["Absent/small fallopian tube","Absent/underdeveloped fallopian tube","Absent or rudimentary fallopian tubes"],[11027]],[8656,"Incomplete male pseudohermaphroditism",[],[37]],[8659,"Multiple small medullary renal cysts",["Medullary cystic disease","Medullary sponge kidney disease"],[107,100957]],[8660,"Renotubular dysgenesis",["Renal tubular dysgenesis"],[91]],[8661,"Urethral stenosis",["Narrowing of the urethra"],[796]],[8663,"Renal sarcoma",[],[9726,100242]],[8664,"Urethral sphincter sclerosis",[],[8661]],[8665,"Clitoral hypertrophy",["Clitoral enlargement","Clitoromegaly","Enlarged clitoris","Hypertrophic clitoris","Prominent clitoris"],[40253]],[8666,"Impaired histidine renal tubular absorption",[],[11038]],[8668,"Gonadal dysgenesis, male",["46,xy gonadal dysgenesis"],[133]],[8669,"Abnormal spermatogenesis",["Impaired spermatogenesis","Abnormal sperm development"],[25]],[8670,"Partial vaginal septum",[],[1153]],[8672,"Calcium oxalate nephrolithiasis",["Ca oxalate kidney stone","Ca oxalate nephrolithiasis","Ca oxalate urolithiasis","Ca2+ oxalate kidney stone","Ca2+ oxalate nephrolithiasis","Ca2+ oxalate urolithiasis","Calcium oxalate kidney stones","Oxalate nephrolithiasis","Calcium oxalate urolithiasis"],[4724]],[8675,"Enlarged polycystic ovaries",["Enlarged ovaries with cysts"],[147,100879]],[8676,"Congenital megaureter",["Congenital megaloureter","Primary megaloureter","Primary megaureter"],[72]],[8677,"Congenital nephrotic syndrome",["Congenital nephrosis"],[100]],[8678,"Renal hypoplasia/aplasia",["Absent/small kidney","Absent/underdeveloped kidney","Renal agenesis/hypoplasia","Renal aplasia/hypoplasia"],[12210]],[8682,"Renal tubular epithelial necrosis",["Acute tubular necrosis","Renal tubular necrosis"],[91,32618]],[8683,"Enlarged labia minora",["Hypertrophic labia minora","Labia minora hypertrophy"],[65,12880]],[8684,"Aplasia/hypoplasia of the uterus",["Absent/small uterus","Absent/underdeveloped uterus"],[130]],[8687,"Hypoplasia of the prostate",["Hypoplastic prostate","Underdeveloped prostate"],[8775]],[8689,"Bilateral cryptorchidism",["Cryptorchidism, bilateral"],[28]],[8691,"Solitary bladder diverticulum",[],[15]],[8695,"Transient nephrotic syndrome",["Transient nephrosis"],[100]],[8696,"Renal hamartoma",[],[9726,10566]],[8697,"Hypoplasia of the fallopian tube",["Rudimentary fallopian tubes","Underdeveloped fallopian tube"],[8655]],[8702,"Absent internal genitalia",[],[812]],[8703,"Gonadal calcification",[],[812,10766]],[8705,"Ureteral triplication",[],[73]],[8706,"Distal urethral duplication",[],[795]],[8707,"Absent scrotum",[],[45]],[8708,"Partial development of the penile shaft",[],[36]],[8711,"Benign prostatic hyperplasia",["Benign prostatic hypertrophy"],[8775]],[8714,"Ureterovesical stenosis",[],[71]],[8716,"Urethrovaginal fistula",["Urethrovaginal fistulae"],[4320,10480]],[8717,"Unilateral renal atrophy",["Kidney degeneration on one side","Unilateral kidney wasting"],[12585]],[8718,"Unilateral renal dysplasia",[],[110]],[8720,"Primary testicular failure",[],[35]],[8722,"Urethral diverticulum",[],[795]],[8723,"Gonadal dysgenesis with female appearance, male",["Xy female gonadal dysgenesis"],[133]],[8724,"Hypoplasia of the ovary",["Hypoplastic ovary","Underdeveloped ovary"],[10462]],[8726,"Hypoplasia of the vagina",["Hypoplastic vagina","Rudimentary vagina","Underdeveloped vagina"],[11026]],[8729,"Absence of labia majora",["Absent vaginal lips"],[12881]],[8730,"Female external genitalia in individual with 46,XY karyotype",["Males with female external genitalia"],[32]],[8732,"Renal hypophosphatemia",[],[2148]],[8733,"Dysplastic testis",["Dysplastic testes","Dysgenetic testis","Testicular dysgenesis"],[35]],[8734,"Decreased testicular size",["Decreased testicular volume","Hypoplastic testes","Reduced testicular volume","Small testes","Small testis","Testicular hypoplasia"],[50,10468]],[8736,"Hypoplasia of penis",["Underdeveloped penis"],[36,50]],[8738,"Partially duplicated kidney",[],[75]],[8739,"Labial pseudohypertrophy",[],[65]],[8740,"Longitudinal vaginal septum",["Vertical vaginal septum"],[1153]],[8742,"Prominent prostate median bar",[],[8775]],[8743,"Coronal hypospadias",["Subcoronal hypospadias"],[3244]],[8744,"Abnormal aryepiglottic fold morphology",["Abnormal aryepiglottic folds","Abnormality of the aryepiglottic fold"],[25423]],[8747,"Cartilaginous ossification of larynx",[],[25423]],[8749,"Laryngeal hypoplasia",["Hypoplastic larynx"],[25423]],[8750,"Laryngeal atresia",[],[25423]],[8751,"Laryngeal cleft",["Laryngotracheal cleft","Laryngotracheoesophageal cleft i"],[25423]],[8752,"Laryngeal cartilage malformation",["Vocal impairment, severe, due to laryngeal cartilage abnormalities"],[25423]],[8753,"Aplasia of the epiglottis",["Absent epiglottis"],[10565]],[8754,"Laryngeal calcification",["Laryngeal calcifications"],[10766,25423]],[8755,"Laryngotracheomalacia",[],[2779]],[8756,"Bowing of the vocal cords",[],[8777]],[8757,"Unilateral vocal cord paralysis",["Unilateral paralysis of the vocal cord"],[1605]],[8760,"Violent behavior",["Violent behaviour"],[718]],[8762,"Repetitive compulsive behavior",["Repetitive compulsive behaviour"],[31432]],[8763,"No social interaction",[],[5200024]],[8765,"Auditory hallucination",["Hallucinations of sound","Hearing sounds"],[738]],[8767,"Self-mutilation of tongue and lips due to involuntary movements",[],[4305,100716]],[8768,"Abnormal sexual behavior",["Inappropriate sexual behavior","Inappropriate sexual behaviour"],[708]],[8770,"Obsessive-compulsive trait",["Obsessive-compulsive traits"],[722]],[8771,"Aplasia/Hypoplasia of the ear",["Absent/small ear","Absent/underdeveloped ear"],[31703]],[8772,"Aplasia/Hypoplasia of the external ear",["Absent/small external ear","Absent/underdeveloped external ear"],[377,8771]],[8773,"Aplasia/Hypoplasia of the middle ear",["Absent/small middle ear","Absent/underdeveloped middle ear","Hypoplastic/aplastic middle ear structures","Middle ear hypoplasia/aplasia"],[8609,8771]],[8774,"Aplasia/Hypoplasia of the inner ear",["Absent/small inner ear","Absent/underdeveloped inner ear"],[8771,11390]],[8775,"Abnormal prostate morphology",["Abnormality of the prostate"],[22]],[8776,"Abnormal renal artery morphology",["Abnormal kidney artery","Abnormality of the renal artery"],[20317,33836]],[8777,"Abnormal vocal cord morphology",["Abnormality of the vocal cords"],[25423]],[8780,"Congenital bilateral hip dislocation",[],[1374]],[8783,"Wide proximal femoral metaphysis",["Wide metaphysis of innermost thighbone"],[6417,6431]],[8784,"Wide capital femoral epiphyses",["Wide end part of innermost thighbone"],[10574]],[8785,"Delayed ossification of pubic rami",[],[9105]],[8786,"Iliac crest serration",["Irregular lacy iliac crest","Lacy appearance of iliac crest"],[3796]],[8788,"Delayed pubic bone ossification",["Absent pubic ossification in infancy","Delayed maturation of pubic bone","Delayed mineralization of pubic bone"],[9105]],[8789,"Cone-shaped capital femoral epiphysis",["Cone-shaped end part of innermost thighbone","Tear drop-shaped capital femoral epiphysis"],[10574,10579]],[8794,"Dysplastic iliac wing",["Dysplastic iliac wings"],[11867]],[8796,"Femoral retroversion",["Decreased femoral torsion","Externally rotated hips"],[31069]],[8797,"Early ossification of capital femoral epiphyses",[],[9107,10574,10656]],[8798,"Widened greater sciatic notch",["Widened sacrosciatic notch","Widening of the sacrosciatic notch"],[10456]],[8800,"Limited hip movement",[],[1376]],[8801,"Hypoplasia of the lesser trochanter",["Lesser trochanter hypoplasia"],[3366]],[8802,"Hypoplasia of the femoral head",["Hypoplastic femoral head","Small femoral heads","Small head of thigh bone"],[3368,9108]],[8804,"Broad femoral head",["Wide head of thigh bone"],[3368]],[8807,"Acetabular dysplasia",["Dysplastic acetabulae","Decreased femoral head coverage by acetabulum"],[3170]],[8808,"High iliac wing",["High iliac wings","Narrow, high iliac wings"],[11867]],[8812,"Flattened femoral head",["Flat head of thigh bone","Flattened femoral heads"],[3368]],[8817,"Aplastic pubic bone",["Absent pubic bones","Aplastic pubic bones"],[9104]],[8818,"Large iliac wing",["Large iliac wings"],[11867]],[8819,"Narrow femoral neck",["Narrow neck of thigh bone","Narrow femoral necks"],[3367]],[8820,"Absent ossification of capital femoral epiphysis",["Absent ossification of femoral capital epiphyses"],[5003,9107,10656]],[8821,"Hypoplastic inferior ilia",[],[946]],[8822,"Hypoplastic ischiopubic ramus",["Hypoplastic ischiopubic rami"],[3173,3175]],[8823,"Inferior pubic ramus hypoplasia",["Hypoplastic inferior pubic rami"],[8830]],[8824,"Hypoplastic iliac body",["Hypoplastic iliac bodies","Small iliac bodies"],[946]],[8828,"Delayed proximal femoral epiphyseal ossification",["Delayed ossification of the proximal femoral epiphysis","Delayed ossification proximal femoral epiphyses"],[2663,9107,10574]],[8829,"Delayed femoral head ossification",["Delayed maturation of the head of the thigh bone"],[3368,9107]],[8830,"Hypoplastic pubic ramus",["Hypoplastic pubic rami"],[3173]],[8833,"Irregular acetabular roof",[],[3170]],[8835,"Multicentric femoral head ossification",[],[9107]],[8838,"Stippled calcification proximal humeral epiphyses",["Speckled calcifications in end part of innermost long bone of upper arm"],[3901]],[8839,"Hypoplastic pelvis",["Hypoplastic pelvic bones","Small pelvis"],[9103]],[8843,"Hip osteoarthritis",["Osteoarthritis of hip"],[2758]],[8845,"Mesomelic short stature",["Dwarfism, short limb mesomelic","Mesomelic dwarfism","Short stature, disproportionate mesomelic","Short stature, mesomelic"],[8873]],[8846,"Severe intrauterine growth retardation",["Intrauterine growth retardation, severe","Severe prenatal growth deficiency"],[1511]],[8848,"Moderately short stature",["Moderate short stature","Short stature, moderate"],[3508]],[8850,"Severe postnatal growth retardation",["Marked growth retardation","Severe growth delay in children","Severe postnatal growth deficiency","Severe postnatal growth failure"],[8897]],[8855,"Moderate postnatal growth retardation",["Moderate growth delay in children"],[8897]],[8857,"Neonatal short-trunk short stature",["Short-trunk dwarfism identifiable at birth"],[3521]],[8866,"Failure to thrive secondary to recurrent infections",["Faltering weight secondary to recurrent infections","Weight faltering secondary to recurrent infections"],[1508]],[8872,"Feeding difficulties in infancy",[],[11968]],[8873,"Disproportionate short-limb short stature",["Brachymelic dwarfism","Disproportionate short limb dwarfism","Dwarfism, short-limbed","Micromelic dwarfism","Short limb dwarfism, disproportionate","Short stature, disproportionate short limb","Short stature, disproportionate short-limb","Short-limb dwarfism","Short-limbed dwarfism","Short limb dwarfism"],[3498]],[8883,"Mild intrauterine growth retardation",["Mild prenatal growth deficiency"],[1511]],[8887,"Adipose tissue loss",["Loss of fat tissue"],[40063]],[8890,"Severe short-limb dwarfism",[],[8873]],[8897,"Postnatal growth retardation",["Growth delay as children","Growth retardation as children","Postnatal growth deceleration","Postnatal growth deficiency","Postnatal growth failure"],[1510]],[8905,"Rhizomelia",["Disproportionately short upper portion of limb","Rhizomelic dwarfism","Rhizomelic limb shortening","Rhizomelic short limbs","Rhizomelic short stature","Rhizomelic shortening","Short stature, rhizomelic","Symmetrical rhizomelic limb shortening"],[8873,9826]],[8909,"Lethal short-limbed short stature",["Lethal micromelic dwarfism","Lethal short-limbed dwarfism"],[8873]],[8915,"Childhood-onset truncal obesity",["Truncal obesity apparent in childhood"],[1956]],[8921,"Neonatal short-limb short stature",["Dwarfism, neonatal short-limbed","Neonatal short-limbed dwarfism","Short limb dwarfism recognisable at birth","Short limb dwarfism recognizable at birth","Short-limb dwarfism identifiable at birth","Short-limb dwarfism identifiable neonatally","Short-limbed dwarfism identifiable at birth"],[8873]],[8922,"Childhood-onset short-trunk short stature",["Disproportionate short-trunk short stature, identifiable in childhood","Short-trunk dwarfism identifiable during childhood"],[3521]],[8929,"Asymmetric short stature",[],[4322]],[8935,"Generalized neonatal hypotonia",["Generalised low muscle tone in neonate","Generalised neonatal hypotonia","Generalized low muscle tone in neonate","Hypotonia, neonatal, generalised","Hypotonia, neonatal, generalized"],[1319]],[8936,"Axial hypotonia",["Low muscle tone in trunk","Muscular hypotonia of the trunk","Truncal hypotonia"],[1252]],[8940,"Generalized lymphadenopathy",["Generalised lymphadenopathy","Generalised swelling of lymph nodes","Generalized swelling of lymph nodes","Swollen lymph nodes affecting all regions of the body"],[2716]],[8942,"Acute rhabdomyolysis",["Rhabdomyolysis, acute"],[3201]],[8944,"Distal lower limb amyotrophy",["Lower leg amyotrophy","Lower limb degeneration","Muscle atrophy, lower limb, distal","Lower limb atrophy","Lower limb muscle hypotrophy"],[3693,7210]],[8945,"Loss of ability to walk in early childhood",[],[2505]],[8946,"Pelvic girdle amyotrophy",["Hip girdle amyotrophy"],[3797]],[8947,"Floppy infant",["Decreased muscle tone in infant","Hypotonia early","Hypotonia in infancy","Hypotonia, early","Infantile hypotonia","Infantile muscular hypotonia"],[1252]],[8948,"Proximal upper limb amyotrophy",["Proximal muscle atrophy in upper limbs","Proximal upper limb muscle atrophy"],[1457,7126]],[8952,"Shoulder muscle hypoplasia",["Underdeveloped shoulder muscle"],[1464,9004]],[8953,"Pectoralis major hypoplasia",["Pectoralis major muscle hypoplasia"],[11957]],[8954,"Intrinsic hand muscle atrophy",[],[9130]],[8955,"Progressive distal muscular atrophy",[],[3693]],[8956,"Proximal lower limb amyotrophy",["Amyotrophy involving the thigh","Amyotrophy of the thigh musculature","Proximal lower limb muscle atrophy","Thigh muscle atrophy","Wasting of thigh muscle"],[1441,7126]],[8959,"Distal upper limb muscle weakness",[],[2460,3484]],[8962,"Calf muscle hypoplasia",["Hypoplastic calf muscles","Underdeveloped calf muscles"],[1430,9004]],[8963,"Tibialis muscle weakness",[],[9053]],[8964,"Nonprogressive muscular atrophy",[],[3202]],[8967,"Exercise-induced muscle stiffness",["Muscle stiffness with exercise","Muscle stiffness, exercise-induced"],[3552]],[8968,"Muscle hypertrophy of the lower extremities",[],[1437,3712]],[8969,"Leg muscle stiffness",[],[1437,3552]],[8970,"Scapulohumeral muscular dystrophy",[],[3560]],[8972,"Decreased activity of mitochondrial respiratory chain",["Decreased activities of mitochondrial-encoded respiratory chain complexes","Decreased activity of mitochondrial respiratory complexes"],[11922]],[8978,"Necrotizing myopathy",[],[3198]],[8981,"Calf muscle hypertrophy",["Calf hypertrophy","Increased size of calf muscles","Muscular hypertrophy of the calf muscles"],[1430,8968]],[8984,"Neck muscle hypoplasia",["Decreased size of neck muscle","Small neck muscle","Underdevelopment of neck muscle","Deficiency of neck muscle","Hypotrophic neck muscle"],[9004,25668]],[8985,"Increased intramuscular fat",["Increased IM fat"],[9126,11805]],[8986,"Agenesis of the diaphragm",["Absent diaphragm","Agenesis of diaphragm"],[10315]],[8988,"Pelvic girdle muscle atrophy",["Pelvic girdle muscle wasting"],[1445,1471]],[8991,"Exercise-induced leg cramps",[],[3710]],[8993,"Increased intraabdominal fat",[],[9126]],[8994,"Proximal lower limb muscle weakness",["Muscle weakness, proximal, lower limbs","Proximal muscle weakness in lower limbs"],[3690,3701]],[8997,"Proximal upper limb muscle weakness",["Proximal muscle weakness in upper limbs"],[1446,3484,3701]],[8998,"Pectoralis hypoplasia",["Hypoplastic pectoral muscle","Small pec muscle","Underdeveloped pec muscle"],[5258,9004]],[9002,"Loss of truncal subcutaneous adipose tissue",["Loss of fat tissue in trunk","Loss of subcutaneous truncal adipose tissue","Loss of truncal adipose tissue"],[8887]],[9003,"Increased subcutaneous truncal adipose tissue",["Abundant adipose panniculus","Increased fat below the skin in trunk"],[1001,9126]],[9004,"Hypoplasia of the musculature",["Muscle hypoplasia","Poorly developed skeletal musculature","Underdeveloped muscle","Underdeveloped muscles"],[1460]],[9005,"Weakness of the intrinsic hand muscles",["Intrinsic hand muscle weakness"],[1421]],[9007,"Biceps hypoplasia",["Hypoplastic biceps","Underdeveloped biceps"],[9782,30239]],[9011,"Hypoplasia of serratus anterior muscle",[],[9131]],[9013,"Congenital absence of gluteal muscles",[],[1443,1471]],[9016,"Upper limb muscle hypoplasia",["Underdevelopment of upper limb muscles"],[1467,9004]],[9017,"Loss of gluteal subcutaneous adipose tissue",["Loss of fat tissue below the skin in gluts"],[8887]],[9019,"Progressive loss of facial adipose tissue",["Atrophy of facial adipose tissue","Facial fat atrophy","Facial fat wasting","Loss of subcutaneous adipose tissue from face, progressive","Progressive loss of facial fat","Progressive loss of facial subcutaneous adipose tissue","Progressive loss of subcutaneous adipose tissue from face"],[292]],[9020,"Exercise-induced muscle fatigue",[],[3750]],[9023,"Abdominal wall muscle weakness",["Lax abdominal musculature"],[1324]],[9025,"Increased connective tissue",[],[3549]],[9026,"Hypoplasia of latissimus dorsi muscle",[],[9131]],[9027,"Foot dorsiflexor weakness",["Foot drop","Foot extensor weakness","Footdrop","Inability to heel walk","Inability to walk on heels"],[3690]],[9028,"Generalized weakness of limb muscles",["Generalised weakness of limb muscles"],[9127]],[9031,"Amyotrophy of ankle musculature",[],[1436]],[9037,"Segmental spinal muscular atrophy",[],[7269]],[9045,"Exercise-induced rhabdomyolysis",["Rhabdomyolysis with exercise"],[3201]],[9046,"Difficulty running",[],[4302]],[9049,"Peroneal muscle atrophy",["Peroneal atrophy"],[1430,3202]],[9050,"Quadriceps muscle atrophy",["Wasting of quad muscles"],[8956]],[9051,"Increased muscle glycogen content",[],[12269]],[9053,"Distal lower limb muscle weakness",["Distal muscle weakness in lower limbs","Muscle weakness, lower limb, distal"],[2460,7340]],[9054,"Scapuloperoneal myopathy",[],[1430,1465]],[9055,"Generalized limb muscle atrophy",["Generalised limb muscle atrophy","Generalised muscle atrophy, proximal and distal","Generalised muscle wasting","Generalized muscle atrophy, proximal and distal","Generalized muscle wasting"],[3700]],[9056,"Loss of subcutaneous adipose tissue from upper limbs",["Loss of fat tissue below the skin from upper limbs"],[3635]],[9058,"Increased muscle lipid content",["Fat accumulation in muscle fibers","Fat accumulation in muscle fibres","Fat deposits in muscle fibers","Fat deposits in muscle fibres","Lipid accumulation in skeletal muscle","Muscle lipidosis","Skeletal muscle lipid accumulation"],[34370]],[9059,"Congenital generalized lipodystrophy",["Congenital generalised lipodystrophy"],[9125]],[9060,"Scapular muscle atrophy",[],[1465]],[9063,"Progressive distal muscle weakness",["Muscle weakness, distal, progressive","Muscle weakness, progressive, distal"],[2460]],[9064,"Generalized lipodystrophy",["Generalised lipodystrophy","Lipodystrophy, generalised","Lipodystrophy, generalized"],[9125]],[9067,"Progressive spinal muscular atrophy",["Progressive spinal muscle degeneration","Progressive spinal muscle wasting"],[7269]],[9069,"Lethal infantile mitochondrial myopathy",[],[3737]],[9071,"Inflammatory myopathy",[],[3198]],[9072,"Decreased Achilles reflex",["Hyporeflexia at ankle joints"],[2600]],[9073,"Progressive proximal muscle weakness",["Muscle weakness, progressive, proximal"],[3323,3701]],[9077,"Weakness of long finger extensor muscles",[],[30237]],[9084,"Midline notch of upper alveolar ridge",["Midline cleft of maxillary alveolar process","Midline cleft of upper alveolar ridge","Midline notch of maxillary alveolar process","Midline notch of maxillary alveolar ridge","Midline notch of upper gum ridge"],[6477]],[9085,"Alveolar ridge overgrowth",["Increased size of gum ridge","Alveolar ridge excess","Enlarged alveolar ridge","Hyperplasia of alveolar process of jaw","Hyperplasia of alveolar ridge","Increased size of alveolar ridge","Overgrowth of alveolar ridge","Overgrowth of gum ridge","Thick alveolar ridges","Thickened alveolar ridges","Hypertrophied alveolar ridge"],[6477]],[9087,"Posteriorly placed tongue",[],[30809]],[9088,"Speech articulation difficulties",[],[1608,2463]],[9092,"Progressive alveolar ridge hypertrophy",["Increasing size of gum ridge","Progressive hypertrophy of alveolar process of jaw","Increasing overgrowth of gum ridge"],[6477]],[9094,"Cleft lower alveolar ridge",["Cleft of lower gum ridge","Notch of lower alveolar ridge","Notch of lower gum ridge","Notch of mandibular alveolar ridge","Cleft of lower alveolar process","Cleft of lower gingiva","Cleft of mandibular alveolar process","Cleft of mandibular gingiva","Notch of lower alveolar process","Notch of mandibular alveolar process"],[6477]],[9098,"Recurrent oral thrush",["Chronic oral candidiasis","Chronic oral thrush","Persistent oral thrush"],[2728,5210252]],[9099,"Median cleft palate",["Central cleft palate","Midline cleft palate"],[175]],[9100,"Thick anterior alveolar ridges",["Thick anterior alveolar process of jaw"],[9085]],[9101,"Submucous cleft lip",["Submucous labial cleft"],[5201010]],[9102,"Anterior open-bite malocclusion",["AOB","Absence of overlap of anterior upper and lower teeth","Anterior open bite","Anterior open bite between upper and lower teeth","Anterior openbite","Apertognathia malocclusion","Gap between upper and lower front teeth when biting"],[689,10807]],[9103,"Aplasia/Hypoplasia involving the pelvis",["Absent/small pelvis","Absent/underdeveloped pelvis"],[2644]],[9104,"Aplasia/Hypoplasia of the pubic bone",["Absent/small pubic bones","Absent/underdeveloped pubic bones","Hypoplastic/aplastic pubic bones"],[3172,9103]],[9105,"Abnormal ossification of the pubic bone",["Abnormal maturation of the pubic bone"],[3172,9106]],[9106,"Abnormal pelvis bone ossification",["Abnormal ossification involving the bones of the pelvis","Abnormal maturation of the pelvis bone"],[2644,3336]],[9107,"Abnormal ossification involving the femoral head and neck",["Abnormal maturation of thigh bone head and neck"],[3336,3366]],[9108,"Aplasia/Hypoplasia involving the femoral head and neck",["Absent/small head and neck of thighbone","Absent/underdeveloped head and neck of thighbone"],[3366,5613,9103]],[9109,"Denervation of the diaphragm",[],[775]],[9110,"Diaphragmatic eventration",["Eventration of the diaphragm"],[775]],[9112,"Aplasia of the left hemidiaphragm",["Absent left hemidiaphragm","Left diaphragmatic hernia"],[776,40046]],[9113,"Diaphragmatic weakness",["Diaphragmatic paraparesis","Weak diaphragm","Diminished diaphragmatic motion"],[1324]],[9115,"Aplasia/hypoplasia involving the skeleton",["Absent/small skeleton","Absent/underdeveloped skeleton"],[11842]],[9116,"Aplasia/Hypoplasia involving bones of the skull",[],[929,9122]],[9117,"Aplasia/Hypoplasia of the maxilla",["Underdevelopment of maxilla","Underdevelopment of upper jaw bones"],[326,9116]],[9118,"Aplasia/Hypoplasia of the mandible",[],[277,9116]],[9119,"Aplasia/Hypoplasia of the frontal sinuses",["Abnormally small frontal sinus"],[2687,9120]],[9120,"Aplasia/Hypoplasia involving the sinuses",[],[245,9116]],[9121,"Abnormal axial skeleton morphology",["Abnormality of the axial skeleton"],[11842]],[9122,"Aplasia/hypoplasia affecting bones of the axial skeleton",[],[9115,9121]],[9123,"Mixed hypo- and hyperpigmentation of the skin",[],[953,1010]],[9124,"Abnormal adipose tissue morphology",["Abnormality of adipose tissue","Abnormality of fat tissue","Abnormality of fatty tissue"],[3549]],[9125,"Lipodystrophy",["Inability to make and keep healthy fat tissue"],[9124]],[9126,"Increased adipose tissue",["Increased fat tissue"],[9025,9124]],[9127,"Abnormal appendicular muscle morphology",["Abnormal limb muscles","Muscle issues in the arms and/or legs"],[11805,40064]],[9128,"Aplasia/Hypoplasia involving the musculature of the extremities",["Absent/small muscles of extremities","Absent/underdeveloped muscles of extremities"],[1460,9127]],[9129,"Upper limb amyotrophy",["Amyotrophy involving the upper limbs"],[1446,3202]],[9130,"Hand muscle atrophy",["Amyotrophy involving the musculature of the hand","Amyotrophy of hand muscles","Hand muscle degeneration","Hand muscle wasting","Hand muscle wasting, bilateral"],[1421,7149]],[9131,"Abnormality of the musculature of the thorax",[],[40286]],[9132,"Abnormal tarsal bone mineral density",["Abnormality of bone mineral density involving tarsal bones"],[1850,4348]],[9134,"Osteolysis involving bones of the feet",[],[1760,9139]],[9136,"Duplication involving bones of the feet",[],[1760,40069]],[9138,"Synostosis involving bones of the lower limbs",["Fusion involving the bones of the lower limbs"],[40069,100240,100491]],[9139,"Osteolysis involving bones of the lower limbs",[],[2797,40069]],[9140,"Synostosis involving bones of the feet",["Fusion involving the bones of the feet"],[1760,9138]],[9141,"Depletion of mitochondrial DNA in muscle tissue",["Depletion of mitochondrial dna in skeletal muscle tissue"],[3800,30059]],[9142,"Duplication of bones involving the upper extremities",[],[2817]],[9144,"Supernumerary bones of the axial skeleton",[],[9121]],[9145,"Abnormal cerebral artery morphology",["Abnormality of cerebral artery","Abnormality of the cerebral arteries"],[11004,100659]],[9147,"Enlarged epiphysis of the distal phalanx of the 5th finger",["Enlarged end part of the outermost bone of little finger","Enlarged end part of the outermost bone of pinkie finger","Enlarged end part of the outermost bone of pinky finger"],[9198,9385,10249]],[9148,"Small epiphysis of the distal phalanx of the 5th finger",["Small end part of the outermost bone of little finger","Small end part of the outermost bone of pinkie finger","Small end part of the outermost bone of pinky finger"],[9198,9390,10254]],[9149,"Triangular epiphysis of the distal phalanx of the 5th finger",["Delta-shaped epiphysis of the distal phalanx of the 5th finger","Triangular end part of the outermost bone of little finger","Triangular end part of the outermost bone of pinkie finger","Triangular end part of the outermost bone of pinky finger"],[9198,9392,10256]],[9150,"Abnormality of the proximal phalanx of the 5th finger",["Abnormality of the innermost bone little finger","Abnormality of the innermost bone pinkie finger","Abnormality of the innermost bone pinky finger"],[4213]],[9152,"Abnormality of the epiphyses of the 5th finger",["Abnormality of end part of little finger bone","Abnormality of end part of pinkie finger bone","Abnormality of end part of pinky finger bone"],[4207,5920]],[9153,"Abnormality of the epiphysis of the proximal phalanx of the 5th finger",["Abnormality of end part of the innermost bone of little finger","Abnormality of end part of the innermost bone of pinkie finger","Abnormality of end part of the innermost bone of pinky finger"],[9150,9152,10245]],[9154,"Triangular epiphysis of the proximal phalanx of the 5th finger",["Delta-shaped epiphysis of the proximal phalanx of the 5th finger","Triangular end part of the innermost bone of little finger","Triangular end part of the innermost bone of pinkie finger","Triangular end part of the innermost bone of pinky finger"],[9153,9392,10278]],[9155,"Cone-shaped epiphysis of the proximal phalanx of the 5th finger",["Cone-shaped end part of the innermost bone of little finger","Cone-shaped end part of the innermost bone of pinkie finger","Cone-shaped end part of the innermost bone of pinky finger","Angel-shaped epiphysis of the proximal phalanx of the 5th finger","Cone-shaped epiphysis of the proximal phalanx of the little finger"],[9153,9384,10270]],[9157,"Ivory epiphysis of the proximal phalanx of the 5th finger",["Increased bone density of end part of the innermost bone of little finger","Increased bone density of end part of the innermost bone of pinkie finger","Increased bone density of end part of the innermost bone of pinky finger","Ivory epiphysis of the proximal phalanx of the little finger"],[9153,9388,10274]],[9158,"Enlarged epiphysis of the proximal phalanx of the 5th finger",["Enlarged end part of the innermost bone of little finger","Enlarged end part of the innermost bone of pinkie finger","Enlarged end part of the innermost bone of pinky finger"],[9385]],[9159,"Small epiphysis of the proximal phalanx of the 5th finger",["Small end part of the innermost bone of little finger","Small end part of the innermost bone of pinkie finger","Small end part of the innermost bone of pinky finger"],[9153,9390,10276]],[9160,"Absent epiphysis of the proximal phalanx of the 5th finger",["Absent end part of the innermost bone of little finger","Absent end part of the innermost bone of pinkie finger","Absent end part of the innermost bone of pinky finger"],[9153,9382,10268]],[9161,"Aplasia/Hypoplasia of the middle phalanx of the 5th finger",["Absent/hypoplastic middle phalanx of 5th finger","Absent/small middle bone of pinky finger","Absent/underdeveloped middle bone of little finger","Absent/underdeveloped middle bone of pinkie finger","Absent/underdeveloped middle bone of pinky finger"],[4219,9376]],[9162,"Absent middle phalanx of 5th finger",["Absent middle bone of little finger","Absent middle bone of pinkie finger","Absent middle bone of pinky finger","Aplasia of the middle phalanx of the 5th finger"],[9161,9238,10239]],[9164,"Abnormal calcification of the carpal bones",["Abnormal calcification of the wrist bones","Carpal calcifications"],[6257,10766]],[9165,"Stippling of the epiphysis of the distal phalanx of the 5th finger",["Speckled calcifications in end part of the outermost bone of little finger","Speckled calcifications in end part of the outermost bone of pinkie finger","Speckled calcifications in end part of the outermost bone of pinky finger"],[9198,9391,10255]],[9166,"Fragmentation of the epiphysis of the distal phalanx of the 5th finger",["Fragmentation of end part of the outermost bone of little finger","Fragmentation of end part of the outermost bone of pinkie finger","Fragmentation of end part of the outermost bone of pinky finger"],[9198,9386,10250]],[9167,"Irregular epiphysis of the distal phalanx of the 5th finger",["Irregular end part of the outermost bone of little finger","Irregular end part of the outermost bone of pinkie finger","Irregular end part of the outermost bone of pinky finger"],[9198,9387,10251]],[9168,"Bullet-shaped middle phalanx of the 5th finger",["Bullet-shaped middle little finger bone","Bullet-shaped middle pinkie finger bone","Bullet-shaped middle pinky finger bone"],[4219,9375,9845]],[9169,"Broad middle phalanx of the 5th finger",["Broad middle bone of little finger","Broad middle bone of pinkie finger","Broad middle bone of pinky finger","Wide middle phalanx of the 5th finger"],[4219,9374,9844]],[9170,"Osteolytic defects of the middle phalanx of the 5th finger",[],[4216,4219,9847]],[9171,"Triangular epiphyses of the metacarpals",["Triangular end part of the long bone of hand"],[5913,10587]],[9172,"Abnormal 4th finger phalanx morphology",["Abnormal bones of 4th finger","Abnormality of the phalanges of the ring finger"],[4188,5918]],[9173,"Curved middle phalanx of the 5th finger",["Curved middle bone of little finger","Curved middle bone of pinkie finger","Curved middle bone of pinky finger"],[4214,4219,9846]],[9174,"Abnormality of the epiphyses of the 4th finger",["Abnormality of the end part of the ring finger"],[4188,5920]],[9175,"Patchy sclerosis of the middle phalanx of the 5th finger",["Uneven increase in bone density in the middle bone of the little finger","Uneven increase in bone density in the middle bone of the pinkie finger","Uneven increase in bone density in the middle bone of the pinky finger"],[4219,9377,9848,100907]],[9177,"Proximal fifth finger symphalangism",["Fused innermost and middle bones of little finger","Fused innermost and middle bones of pinkie finger","Fused innermost and middle bones of pinky finger","Proximal 5th finger symphalangism","Symphalangism of the proximal and middle phalanges of the 5th finger"],[4218,6152]],[9179,"Deviation of the 5th finger",["Displaced little finger","Displaced pinkie finger","Displaced pinky finger","Laterally displaced fifth finger"],[4097,4207]],[9180,"Ulnar deviation of the 5th finger",[],[9179,9465]],[9182,"Triangular shaped middle phalanx of the 5th finger",["Triangular shaped middle little finger bone","Triangular shaped middle pinkie finger bone","Triangular shaped middle pinky finger bone"],[4219,9378,9850]],[9183,"Joint contracture of the 5th finger",["5th finger camptodactyly","Fifth finger camptodactyly"],[4207,12785]],[9184,"Contracture of the distal interphalangeal joint of the 5th finger",[],[9183,9697]],[9185,"Contracture of the proximal interphalangeal joint of the 5th finger",["Camptodactyly of 5th finger","Camptodactyly of the fifth finger"],[9183,100490]],[9186,"Contracture of the metacarpophalangeal joint of the 5th finger",[],[9183]],[9187,"Bracket epiphysis of the distal phalanx of the 5th finger",["Bracket shaped end part of the outermost little finger bone","Bracket shaped end part of the outermost pinkie finger bone","Bracket shaped end part of the outermost pinky finger bone"],[9198,9383,10247]],[9188,"Pseudoepiphysis of the distal phalanx of the 5th finger",[],[9198,9389,10253]],[9189,"Fragmented metacarpal epiphysis",["Fragmentation of end part of the long bone of hand","Fragmentation of the metacarpal epiphyses"],[3841,5913]],[9190,"Irregular epiphyses of the metacarpals",["Irregular end part of the long bone of hand"],[3842,5913]],[9191,"Ivory epiphyses of the metacarpals",["Increased bone density of end part of the long bone of hands"],[5913,10583,11001]],[9192,"Aplasia/Hypoplasia of the proximal phalanx of the 5th finger",["Absent/small innermost little finger bone","Absent/small innermost pinkie finger bone","Absent/small innermost pinky finger bone","Absent/underdeveloped innermost pinky finger bone"],[9150,9376]],[9193,"Metacarpal pseudoepiphysis",["Accessory proximal metacarpal ossification centers","Accessory proximal metacarpal ossification centres","Metacarpal pseudoepiphyses","Pseudoepiphyses of the metacarpals"],[4288,5913]],[9194,"Small epiphyses of the metacarpals",["Small end part of the long bone of hand"],[5913,10585]],[9195,"Epiphyseal stippling of the metacarpals",["Speckled calcifications in end part of the long bone of hand","Stippling of the epiphyses of the metacarpals"],[5913,10655,10660]],[9196,"Absent metacarpal epiphyses",["Absent end part of the long bone of hand","Absent metacarpal ossification center","Absent metacarpal ossification centre"],[5913,10577]],[9197,"Bracket epiphysis of the proximal phalanx of the 5th finger",["Bracket shaped end part of the innermost bone of the little finger","Bracket shaped end part of the innermost bone of the pinkie finger","Bracket shaped end part of the innermost bone of the pinky finger"],[9153,9383,10269]],[9198,"Abnormality of the epiphysis of the distal phalanx of the 5th finger",["Abnormality of end part of the outermost bone of the little finger","Abnormality of end part of the outermost bone of the pinkie finger","Abnormality of end part of the outermost bone of the pinky finger","Abnormality of the epiphysis of the terminal phalanx of the little finger"],[4225,9152,10243]],[9199,"Irregular epiphysis of the proximal phalanx of the 5th finger",["Irregular end part of the innermost little finger bone","Irregular end part of the innermost pinkie finger bone","Irregular end part of the innermost pinky finger bone"],[9153,9387,10273]],[9200,"Pseudoepiphysis of the proximal phalanx of the 5th finger",[],[9153,9389,10275]],[9201,"Stippling of the epiphysis of the proximal phalanx of the 5th finger",["Speckled calcifications in end part of the innnermost bone of the little finger","Speckled calcifications in end part of the innnermost bone of the pinkie finger","Speckled calcifications in end part of the innnermost bone of the pinky finger"],[9153,9391,10277]],[9202,"Fragmentation of the epiphysis of the proximal phalanx of the 5th finger",["Fragmentation of end part of the innermost bone of the little finger","Fragmentation of end part of the innermost bone of the pinkie finger","Fragmentation of end part of the innermost bone of the pinky finger"],[9153,9386,10272]],[9203,"Absent epiphysis of the middle phalanx of the 5th finger",["Absent end part of the middle bone of the little finger","Absent end part of the middle bone of the pinkie finger","Absent end part of the middle bone of the pinky finger"],[4224,9382,10257]],[9204,"Bracket epiphysis of the middle phalanx of the 5th finger",["Bracket shaped end part of the middle bone of the little finger","Bracket shaped end part of the middle bone of the pinkie finger","Bracket shaped end part of the middle bone of the pinky finger"],[4224,9383,10258]],[9205,"Cone-shaped epiphysis of the middle phalanx of the 5th finger",["Cone-shaped end part of the middle bone of the little finger","Cone-shaped end part of the middle bone of the pinkie finger","Cone-shaped end part of the middle bone of the pinky finger"],[4224,9384,10259]],[9206,"Enlarged epiphysis of the middle phalanx of the 5th finger",["Enlarged end part of the middle bone of the little finger","Enlarged end part of the middle bone of the pinkie finger","Enlarged end part of the middle bone of the pinky finger"],[4224,9385,10260]],[9207,"Fragmentation of the epiphysis of the middle phalanx of the 5th finger",["Fragmentation of end part of the middle bone of the little finger","Fragmentation of end part of the middle bone of the pinkie finger","Fragmentation of end part of the middle bone of the pinky finger"],[4224,9386,10261]],[9208,"Irregular epiphysis of the middle phalanx of the 5th finger",["Irregular end part of the middle bone of the little finger","Irregular end part of the middle bone of the pinkie finger","Irregular end part of the middle bone of the pinky finger"],[4224,9387,10262]],[9209,"Ivory epiphysis of the middle phalanx of the 5th finger",["Increased bone density of end part of the middle bone of little finger","Increased bone density of end part of the middle bone of pinkie finger","Increased bone density of end part of the middle bone of pinky finger"],[4224,9388,10263]],[9210,"Pseudoepiphysis of the middle phalanx of the 5th finger",[],[4224,9389,10264]],[9211,"Small epiphysis of the middle phalanx of the 5th finger",["Small end part of the middle bone of the little finger","Small end part of the middle bone of the pinkie finger","Small end part of the middle bone of the pinky finger"],[4224,9390,10265]],[9212,"Stippling of the epiphysis of the middle phalanx of the 5th finger",["Speckled calcifications in end part of the middle bone of the little finger","Speckled calcifications in end part of the middle bone of the pinkie finger","Speckled calcifications in end part of the middle bone of the pinky finger"],[4224,9391,10266]],[9213,"Triangular epiphysis of the middle phalanx of the 5th finger",["Delta-shaped epiphysis of the middle phalanx of the 5th finger","Triangular end part of the middle bone of the little finger","Triangular end part of the middle bone of the pinkie finger","Triangular end part of the middle bone of the pinky finger"],[4224,9392,10267]],[9214,"Absent epiphysis of the middle phalanx of the 4th finger",["Absent end part of the middle bone of the ring finger"],[9247,9393,10257]],[9215,"Bracket epiphysis of the middle phalanx of the 4th finger",["Bracket shaped end part of the middle bone of the ring finger"],[9247,9394,10258]],[9216,"Cone-shaped epiphysis of the middle phalanx of the 4th finger",["Cone-shaped end part of the middle bone of the ring finger"],[9247,9395,10259]],[9217,"Enlarged epiphysis of the middle phalanx of the 4th finger",["Enlarged end part of the middle bone of the ring finger"],[9247,9396,10260]],[9218,"Fragmentation of the epiphysis of the middle phalanx of the 4th finger",["Fragmentation of end part of the middle bone of the ring finger"],[9247,9397,10261]],[9219,"Irregular epiphysis of the middle phalanx of the 4th finger",["Irregular end part of the middle bone of the ring finger"],[9247,9398,10262]],[9220,"Ivory epiphysis of the middle phalanx of the 4th finger",["Increased bone density of end part of the middle ring finger bone"],[9247,9399,10263]],[9221,"Pseudoepiphysis of the middle phalanx of the 4th finger",[],[9247,9400,10264]],[9222,"Small epiphysis of the middle phalanx of the 4th finger",["Small end part of the middle bone of the ring finger"],[9247,9401,10265]],[9223,"Stippling of the epiphysis of the middle phalanx of the 4th finger",["Speckled calcifications in end part of the middle bone of the ring finger"],[9247,9402,10266]],[9224,"Triangular epiphysis of the middle phalanx of the 4th finger",["Delta-shaped epiphysis of the middle phalanx of the 4th finger","Triangular end part of the middle bone of the ring finger"],[9247,9403,10267]],[9225,"Aplasia of the proximal phalanx of the 5th finger",["Absent innermost bone of little finger","Absent innermost bone of pinkie finger","Absent innermost bone of pinky finger"],[9192,9238,10242]],[9226,"Short proximal phalanx of the 5th finger",["Hypoplastic/small proximal phalanx of the 5th finger","Short innermost little finger bone","Short innermost pinkie finger bone","Short innermost pinky finger bone","Short proximal phalanx of the fifth finger"],[9192,9237,10241]],[9227,"Broad proximal phalanx of the 5th finger",["Broad innermost little finger bone","Broad innermost pinkie finger bone","Broad innermost pinky finger bone","Wide proximal phalanx of the 5th finger"],[9150,9374,9852]],[9228,"Bullet-shaped proximal phalanx of the 5th finger",["Bullet-shaped innermost little finger bone","Bullet-shaped innermost pinkie finger bone","Bullet-shaped innermost pinky finger bone"],[9150,9375,9853]],[9229,"Curved proximal phalanx of the 5th finger",["Curved innermost bone of little finger","Curved innermost bone of pinkie finger","Curved innermost bone of pinky finger"],[4214,9150,9854]],[9230,"Osteolytic defects of the proximal phalanx of the 5th finger",[],[4216,9150,9855]],[9231,"Patchy sclerosis of the proximal phalanx of the 5th finger",["Uneven increase in bone density in the innermost bone of little finger","Uneven increase in bone density in the innermost bone of pinkie finger","Uneven increase in bone density in the innermost bone of pinky finger"],[9150,9377,9856,100911]],[9233,"Triangular shaped proximal phalanx of the 5th finger",["Triangular shaped innermost little finger bone","Triangular shaped innermost pinkie finger bone","Triangular shaped innermost pinky finger bone"],[9150,9378,9858]],[9234,"Fifth ray metacarpophalangeal synostosis",["Fused innermost bone of little finger with 5th long bone of hand","Fused innermost bone of pinkie finger with 5th long bone of hand","Fused innermost bone of pinky finger with 5th long bone of hand"],[5880,9708]],[9236,"Rhomboid or triangular shaped 5th finger proximal phalanx",["Rhomboid or triangular shaped innermost bone of little finger","Rhomboid or triangular shaped innermost bone of pinkie finger","Rhomboid or triangular shaped innermost bone of pinky finger"],[9233]],[9237,"Short 5th finger",["Fifth finger brachydactyly","Hypoplastic phalanges of the little finger","Hypoplastic/small 5th finger","Hypoplastic/small little finger","Short fifth finger","Short fifth fingers","Short little finger","Short phalanges of the little finger","Short pinkie finger","Short pinky finger"],[6262,9381]],[9238,"Aplasia of the 5th finger",["Absent little finger","Absent pinkie finger","Absent pinky finger"],[6262,9380]],[9239,"Aplasia/Hypoplasia of the distal phalanx of the 5th finger",["Absent/small outermost bone of little finger","Absent/small outermost bone of pinkie finger","Absent/small outermost bone of pinky finger","Absent/underdeveloped outermost bone of pinky finger"],[4225,9376]],[9240,"Broad distal phalanx of the 5th finger",["Broad outermost little finger bone","Broad outermost pinkie finger bone","Broad outermost pinky finger bone","Wide outermost pinky finger bone"],[4225,9374,9836]],[9241,"Bullet-shaped distal phalanx of the 5th finger",["Bullet-shaped outermost little finger bone","Bullet-shaped outermost pinkie finger bone","Bullet-shaped outermost pinky finger bone"],[4225,9375,9837]],[9242,"Osteolytic defects of the distal phalanx of the 5th finger",[],[4216,4225,9839]],[9243,"Patchy sclerosis of the distal phalanx of the 5th finger",["Uneven increase in bone density in the outermost bone of little finger","Uneven increase in bone density in the outermost bone of pinkie finger","Uneven increase in bone density in the outermost bone of pinky finger"],[4225,9377,9840,100903]],[9244,"Distal fifth finger symphalangism",["Fifth finger distal interphalangeal joint symphalangism","Fused end and middle bones of little finger","Fused end and middle bones of pinkie finger","Fused end and middle bones of pinky finger","Symphalangism of the distal and middle phalanges of the 5th finger","Symphalangism of the terminal and middle phalanges of the 5th finger","Fusion of the terminal and middle phalanges of the 5th finger"],[1204,4218,4225]],[9245,"Triangular shaped distal phalanx of the 5th finger",["Triangular shaped outermost little finger bone","Triangular shaped outermost pinkie finger bone","Triangular shaped outermost pinky finger bone"],[4225,9378,9875]],[9246,"Aplasia of the distal phalanx of the 5th finger",["Absent outermost little finger bone","Absent outermost pinkie finger bone","Absent outermost pinky finger bone"],[9238,9239,9881]],[9247,"Abnormality of the epiphysis of the middle phalanx of the 4th finger",["Abnormality of the end part of the middle bone of the ring finger"],[9174,9283,10244]],[9248,"Abnormality of the epiphysis of the proximal phalanx of the 4th finger",["Abnormality of the end part of the innermost bone of the ring finger"],[9174,9284,10245]],[9249,"Abnormality of the epiphysis of the distal phalanx of the 4th finger",["Abnormality of the end part of the outermost bone of the ring finger"],[9174,9282,10243]],[9250,"Absent epiphysis of the distal phalanx of the 4th finger",["Absent end part of the outermost bone of the ring finger"],[9249,9393,10246]],[9251,"Bracket epiphysis of the distal phalanx of the 4th finger",["Bracket shaped end part of the outermost bone of the ring finger"],[9249,9394,10247]],[9252,"Cone-shaped epiphysis of the distal phalanx of the 4th finger",["Cone-shaped end part of the outermost bone of the ring finger"],[9249,9395,10248]],[9253,"Enlarged epiphysis of the distal phalanx of the 4th finger",["Enlarged end part of the outermost bone of the ring finger"],[9249,9396,10249]],[9254,"Fragmentation of the epiphysis of the distal phalanx of the 4th finger",["Fragmentation of end part of the outermost bone of the ring finger"],[9249,9397,10250]],[9255,"Irregular epiphysis of the distal phalanx of the 4th finger",["Irregular end part of the outermost bone of the ring finger"],[9249,9398,10251]],[9256,"Ivory epiphysis of the distal phalanx of the 4th finger",["Increased bone density of end part of the outermost ring finger bone"],[9249,9399,10252]],[9257,"Pseudoepiphysis of the distal phalanx of the 4th finger",[],[9249,9400,10253]],[9258,"Small epiphysis of the distal phalanx of the 4th finger",["Small end part of the outermost bone of the ring finger"],[9249,9401,10254]],[9259,"Stippling of the epiphysis of the distal phalanx of the 4th finger",["Speckled calcifications in the end part of the outermost bone of the ring finger"],[9249,9402,10255]],[9260,"Triangular epiphysis of the distal phalanx of the 4th finger",["Delta-shaped epiphysis of the distal phalanx of the 4th finger","Triangular end part of the outermost bone of ring finger"],[9249,9403,10256]],[9261,"Absent epiphysis of the proximal phalanx of the 4th finger",["Absent end part of the innermost bone of the ring finger"],[9248,9393,10268]],[9262,"Bracket epiphysis of the proximal phalanx of the 4th finger",["Bracket proximal epiphysis of the ring finger","Bracket shaped end part of the innermost bone of the ring finger"],[9248,9394,10269]],[9263,"Cone-shaped epiphysis of the proximal phalanx of the 4th finger",["Cone-shaped end part of the innermost bone of the ring finger"],[9248,9395,10270]],[9264,"Enlarged epiphysis of the proximal phalanx of the 4th finger",["Enlarged end part of the innermost bone of the ring finger"],[9248,9396,10271]],[9265,"Fragmentation of the epiphysis of the proximal phalanx of the 4th finger",["Fragmentation of end part of the innermost bone of the ring finger"],[9248,9397,10272]],[9266,"Irregular epiphysis of the proximal phalanx of the 4th finger",["Irregular end part of the innermost bone of the ring finger"],[9248,9398,10273]],[9267,"Ivory epiphysis of the proximal phalanx of the 4th finger",["Increased bone density of end part of the innermost ring finger bone"],[9248,9399,10274]],[9268,"Pseudoepiphysis of the proximal phalanx of the 4th finger",[],[9248,9400,10275]],[9269,"Small epiphysis of the proximal phalanx of the 4th finger",["Small end part of the innermost bone of the ring finger"],[9248,9401,10276]],[9270,"Stippling of the epiphysis of the proximal phalanx of the 4th finger",["Speckled calcifications in end part of the innermost bone of ring finger"],[9248,9402,10277]],[9271,"Triangular epiphysis of the proximal phalanx of the 4th finger",["Delta-shaped epiphysis of the proximal phalanx of the 4th finger","Triangular end part of the innermost bone of ring finger"],[9248,9403,10278]],[9272,"Aplasia/Hypoplasia of the 4th finger",["Absent/small ring finger bone","Absent/underdeveloped ring finger bone"],[4188,6265]],[9273,"Deviation of the 4th finger",["Deviation of the ring finger"],[4097,4188]],[9274,"Joint contracture of the 4th finger",["Joint contractures of the fourth finger"],[4188,12785]],[9275,"Contracture of the distal interphalangeal joint of the 4th finger",[],[9274,9697]],[9276,"Contracture of the proximal interphalangeal joint of the 4th finger",["4th finger camptodactyly","Camptodactyly of the 4th finger","Camptodactyly of the ring finger"],[9274,100490]],[9277,"Contracture of the metacarpophalangeal joint of the 4th finger",[],[9274]],[9278,"Ulnar deviation of the 4th finger",["Ulnar deviation of the ring finger"],[9273,9465]],[9279,"Radial deviation of the 4th finger",["Radial deviation of the ring finger"],[9273,9466]],[9280,"Short 4th finger",["Hypoplastic/small 4th finger","Short ring finger"],[9272,9381]],[9281,"Aplasia of the 4th finger",["Absent ring finger"],[9272,9380]],[9282,"Abnormality of the distal phalanx of the 4th finger",["Abnormality of the outermost bone of ring finger"],[9172]],[9283,"Abnormality of the middle phalanx of the 4th finger",["Abnormal middle bone of ring finger","Abnormality of the middle phalanx of the ring finger"],[9172]],[9284,"Abnormality of the proximal phalanx of the 4th finger",["Abnormal innermost bone of ring finger","Abnormality of the proximal phalanx of the ring finger"],[9172]],[9285,"Curved phalanges of the 4th finger",["Curved ring finger bone"],[4095,9172,9770]],[9286,"Curved distal phalanx of the 4th finger",["Curved outermost ring finger bone"],[9282,9285,9838]],[9287,"Curved middle phalanx of the 4th finger",["Curved middle ring finger bone"],[9283,9285,9846]],[9288,"Curved proximal phalanx of the 4th finger",["Curved innermost ring finger bone"],[9284,9285,9854]],[9289,"Aplasia/Hypoplasia of the distal phalanx of the 4th finger",["Absent/small outermost ring finger bone","Absent/underdeveloped outermost ring finger bone"],[9282,9408]],[9290,"Short distal phalanx of the 4th finger",["Hypoplastic/small distal phalanx of the 4th finger","Short distal phalanx of the fourth finger","Short outermost bone of ring finger"],[9280,9289,9882]],[9291,"Aplasia of the distal phalanx of the 4th finger",["Absent outermost bone of ring finger"],[9281,9289,9881]],[9292,"Broad distal phalanx of the 4th finger",["Broad outermost bone of ring finger","Wide outermost bone of ring finger"],[9282,9404,9836]],[9293,"Broad middle phalanx of the 4th finger",["Broad middle bone of the 4th finger"],[9283,9404,9844]],[9294,"Absent middle phalanx of 4th finger",["Absent middle bone of 4th finger","Aplasia of the middle phalanx of the 4th finger"],[9281,9299,10239]],[9295,"Short middle phalanx of the 4th finger",["Brachymesophalangy IV (finger)","Hypoplastic/small middle phalanx of ring finger","Hypoplastic/small middle phalanx of the 4th finger","Short middle bone of 4th finger","Short middle phalanx of ring finger"],[5819,9280,9299]],[9296,"Bullet-shaped middle phalanx of the 4th finger",["Bullet-shaped middle bone of the 4th finger"],[9283,9405,9845]],[9297,"Osteolytic defects of the middle phalanx of the 4th finger",[],[4195,9283,9847]],[9298,"Aplasia of the proximal phalanx of the 4th finger",["Absent innermost ring finger bone"],[9281,9300,10242]],[9299,"Aplasia/Hypoplasia of the middle phalanx of the 4th finger",["Absent/small middle ring finger bone","Absent/underdeveloped middle ring finger bone"],[9283,9408]],[9300,"Aplasia/Hypoplasia of the proximal phalanx of the 4th finger",["Absent/small innermost ring finger bone","Absent/underdeveloped innermost ring finger bone"],[9284,9408]],[9301,"Short proximal phalanx of the 4th finger",["Hypoplastic/small proximal phalanx of the 4th finger","Short innermost bone of the ring finger","Short proximal phalanx of the fourth finger"],[9280,9300,10241]],[9302,"Bullet-shaped distal phalanx of the 4th finger",["Bullet-shaped outermost bone of ring finger"],[9282,9405,9837]],[9303,"Osteolytic defects of the distal phalanx of the 4th finger",[],[4195,9282,9839]],[9304,"Patchy sclerosis of the distal phalanx of the 4th finger",["Uneven increase in bone density in the outermost bone of the ring finger"],[9282,9406,9840,100902]],[9305,"Distal fourth finger symphalangism",["Fused outermost and middle bones of ring finger","Symphalangism of the distal and middle phalanges of the 4th finger"],[1204,4197,9282]],[9306,"Triangular shaped distal phalanx of the 4th finger",["Triangular shaped outermost bone of the ring finger"],[9282,9407,9875]],[9307,"Patchy sclerosis of the middle phalanx of the 4th finger",["Uneven increase in bone density in the middle bone of the ring finger"],[9283,9406,9848,100906]],[9309,"Triangular shaped middle phalanx of the 4th finger",["Triangular shaped middle bone of the ring finger"],[9283,9407,9850]],[9310,"Broad proximal phalanx of the 4th finger",["Broad innermost ring finger bone"],[9284,9404,9852]],[9311,"Bullet-shaped proximal phalanx of the 4th finger",["Bullet-shaped innermost ring finger bone"],[9284,9405,9853]],[9312,"Osteolytic defects of the proximal phalanx of the 4th finger",[],[4195,9284,9855]],[9313,"Patchy sclerosis of the proximal phalanx of the 4th finger",["Uneven increase in bone density in the innermost bone of the ring finger"],[9284,9406,9856,100910]],[9315,"Triangular shaped proximal phalanx of the 4th finger",["Triangular shaped innermost bone of the 4th finger","Triangular shaped innermost bone of the ring finger"],[9284,9407,9858]],[9316,"Abnormal 3rd finger phalanx morphology",["Abnormality of 3rd finger phalanges","Abnormality of middle finger phalanges","Abnormality of the middle finger bones","Abnormality of the phalanges of the 3rd finger"],[4150,5918]],[9317,"Deviation of the 3rd finger",["Deviated middle finger"],[4097,4150]],[9318,"Aplasia/Hypoplasia of the 3rd finger",["Absent/small middle finger","Absent/underdeveloped middle finger"],[4150,6265]],[9319,"Joint contracture of the 3rd finger",["Camptodactyly of middle finger"],[4150,12785]],[9320,"Abnormality of the epiphyses of the 3rd finger",["Abnormality of end part of the middle bone of the middle finger"],[4150,5920]],[9321,"Absent epiphysis of the middle phalanx of the 3rd finger",["Absent end part of the middle bone of the middle finger"],[9334,9410,10257]],[9322,"Bracket epiphysis of the middle phalanx of the 3rd finger",["Bracket shaped end part of the middle bone of the middle finger"],[9334,9411,10258]],[9323,"Cone-shaped epiphysis of the middle phalanx of the 3rd finger",["Cone-shaped end part of the middle bone of the middle finger"],[9334,9412,10259]],[9324,"Enlarged epiphysis of the middle phalanx of the 3rd finger",["Enlarged end part of the middle bone of the middle finger"],[9334,9413,10260]],[9325,"Fragmentation of the epiphysis of the middle phalanx of the 3rd finger",["Fragmentation of end part of the middle bone of the middle finger"],[9334,9414,10261]],[9326,"Irregular epiphysis of the middle phalanx of the 3rd finger",["Irregular end part of the middle bone of the middle finger"],[9334,9415,10262]],[9327,"Ivory epiphysis of the middle phalanx of the 3rd finger",["Increased bone density of end part of the middle bone of the middle finger"],[9334,9416,10263]],[9328,"Pseudoepiphysis of the middle phalanx of the 3rd finger",["Pseudoepiphyses of middle phalanx of middle-finger"],[9334,9417,10264]],[9329,"Small epiphysis of the middle phalanx of the 3rd finger",["Small end part of the middle bone of the middle finger"],[9334,9418,10265]],[9330,"Stippling of the epiphysis of the middle phalanx of the 3rd finger",["Speckled calcifications in end part of the middle bone of the middle finger"],[9334,9419,10266]],[9331,"Triangular epiphysis of the middle phalanx of the 3rd finger",["Delta-shaped epiphysis of the middle phalanx of the 3rd finger","Triangular end part of the middle bone of the middle finger"],[9334,9420,10267]],[9332,"Abnormality of the epiphysis of the distal phalanx of the 3rd finger",["Abnormality of the end part of the outermost bone of the middle finger"],[9320,9357,10243]],[9333,"Abnormality of the epiphysis of the proximal phalanx of the 3rd finger",["Abnormality of the end part of the innermost bone of the middle finger"],[9320,9358,10245]],[9334,"Abnormality of the epiphysis of the middle phalanx of the 3rd finger",["Abnormality of the middle part of the middle bone of the middle finger"],[4172,9320,10244]],[9335,"Absent epiphysis of the distal phalanx of the 3rd finger",["Absent end part of the outermost bone of the middle finger"],[9332,9410,10246]],[9336,"Bracket epiphysis of the distal phalanx of the 3rd finger",["Bracket shaped end part of the outermost bone of the middle finger"],[9332,9411,10247]],[9337,"Cone-shaped epiphysis of the distal phalanx of the 3rd finger",["Cone-shaped end part of the outermost bone of the middle finger"],[9332,9412,10248]],[9338,"Enlarged epiphysis of the distal phalanx of the 3rd finger",["Enlarged end part of the outermost bone of the 3rd finger"],[9332,9413,10249]],[9339,"Fragmentation of the epiphysis of the distal phalanx of the 3rd finger",["Fragmentation of end part of the outermost bone of the middle finger"],[9332,9414,10250]],[9340,"Irregular epiphysis of the distal phalanx of the 3rd finger",["Irregular end part of the outermost long bone of the middle finger"],[9332,9415,10251]],[9341,"Ivory epiphysis of the distal phalanx of the 3rd finger",["Increased bone density of end part of the outermost middle finger bone"],[9332,9416,10252]],[9342,"Pseudoepiphysis of the distal phalanx of the 3rd finger",["Pseudoepiphysis of the outermost bone of the middle finger"],[9332,9417,10253]],[9343,"Small epiphysis of the distal phalanx of the 3rd finger",["Small end part of the outermost long bone of the middle finger"],[9332,9418,10254]],[9344,"Stippling of the epiphysis of the distal phalanx of the 3rd finger",["Speckled calcifications in end part of the outermost long bone of the middle finger"],[9332,9419,10255]],[9345,"Triangular epiphysis of the distal phalanx of the 3rd finger",["Delta-shaped epiphysis of the distal phalanx of the 3rd finger","Triangular end part of the outermost long bone of the middle finger"],[9332,9420,10256]],[9346,"Absent epiphysis of the proximal phalanx of the 3rd finger",["Absent end part of innermost long bone of the middle finger"],[9333,9410,10268]],[9347,"Bracket epiphysis of the proximal phalanx of the 3rd finger",["Bracket shaped end part of innermost long bone of the middle finger"],[9333,9411,10269]],[9348,"Cone-shaped epiphysis of the proximal phalanx of the 3rd finger",["Cone-shaped end part of the innermost bone of the middle finger"],[9333,9412,10270]],[9349,"Enlarged epiphysis of the proximal phalanx of the 3rd finger",["Enlarged end part of innermost long bone of the middle finger","Large epiphysis of proximal middle-finger phalanx"],[9333,9413,10271]],[9350,"Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger",["Fragmentation of end part of innermost long bone of the middle finger"],[9333,9414,10272]],[9351,"Irregular epiphysis of the proximal phalanx of the 3rd finger",["Irregular end part of innermost long bone of the middle finger"],[9333,9415,10273]],[9352,"Ivory epiphysis of the proximal phalanx of the 3rd finger",["Increased bone density of end part of the innermost middle finger bone"],[9333,9416,10274]],[9353,"Pseudoepiphysis of the proximal phalanx of the 3rd finger",[],[9333,9417,10275]],[9354,"Small epiphysis of the proximal phalanx of the 3rd finger",["Small end part of innermost long bone of the middle finger"],[9333,9418,10276]],[9355,"Stippling of the epiphysis of the proximal phalanx of the 3rd finger",["Speckled calcifications in end part of innermost long bone of the middle finger"],[9333,9419,10277]],[9356,"Triangular epiphysis of the proximal phalanx of the 3rd finger",["Delta-shaped epiphysis of the proximal phalanx of the 3rd finger","Triangular end part of innermost long bone of the middle finger"],[9333,9420,10278]],[9357,"Abnormality of the distal phalanx of the 3rd finger",["Abnormality of terminal phalanx of middle-finger","Abnormality of the outermost bone of the 3rd finger"],[9316]],[9358,"Abnormality of the proximal phalanx of the 3rd finger",["Abnormal innermost bone of middle finger","Abnormality of proximal middle-finger phalanx"],[9316]],[9370,"Type A brachydactyly",[],[1156]],[9371,"Type A1 brachydactyly",[],[9370]],[9372,"Type A2 brachydactyly",["Short index fingers and second toes"],[9370]],[9373,"Type C brachydactyly",[],[1156]],[9374,"Broad phalanges of the 5th finger",["Broad little finger bones","Broad pinkie finger bones","Broad pinky finger bones"],[4213,9768]],[9375,"Bullet-shaped phalanges of the 5th finger",["Bullet-shaped little finger bones","Bullet-shaped pinkie finger bones","Bullet-shaped pinky finger bones"],[4213,9769]],[9376,"Aplasia/Hypoplasia of the phalanges of the 5th finger",["Absent/small little finger bones","Absent/small pinkie finger bones","Absent/small pinky finger bones","Absent/underdeveloped pinky finger bones"],[4213,9767]],[9377,"Patchy sclerosis of 5th finger phalanx",["Patchy sclerosis of the phalanges of the 5th finger","Uneven increase in bone density in little finger bone","Uneven increase in bone density in pinkie finger bone","Uneven increase in bone density in pinky finger bone"],[9772,100921]],[9378,"Triangular shaped phalanges of the 5th finger",["Triangular shaped little finger bones","Triangular shaped pinkie finger bones","Triangular shaped pinky finger bones"],[4213,9774]],[9379,"Rhomboid or triangular shaped 5th finger distal phalanx",["Rhomboid or triangular shaped little finger bone","Rhomboid or triangular shaped pinkie finger bone","Rhomboid or triangular shaped pinky finger bone"],[9245]],[9380,"Finger aplasia",["Absent fingers","Aplasia of the fingers","Hand has less than 5 fingers","Hand oligodactyly"],[6265]],[9381,"Short finger",["Hypoplastic digits","Hypoplastic fingers","Hypoplastic/small fingers","Stubby finger","Stubby fingers"],[6265,11927]],[9382,"Absent epiphyses of the 5th finger",["Absent end part of little finger bone","Absent end part of pinkie finger bone","Absent end part of pinky finger bone"],[9152,10228]],[9383,"Bracket epiphyses of the 5th finger",["Bracket shaped end part of little finger bone","Bracket shaped end part of pinkie finger bone","Bracket shaped end part of pinky finger bone"],[9152,10229]],[9384,"Cone-shaped epiphyses of the 5th finger",["Cone-shaped end part of the little finger bones","Cone-shaped end part of the pinkie finger bones","Cone-shaped end part of the pinky finger bones"],[9152,10230]],[9385,"Enlarged epiphyses of the 5th finger",["Enlarged end part of the little finger bones","Enlarged end part of the pinkie finger bones","Enlarged end part of the pinky finger bones"],[9152,10231]],[9386,"Fragmentation of the epiphyses of the 5th finger",["Fragmentation of the end part of the little finger bones","Fragmentation of the end part of the pinkie finger bones","Fragmentation of the end part of the pinky finger bones"],[9152,10232]],[9387,"Irregular epiphyses of the 5th finger",["Irregular end part of the little finger bones","Irregular end part of the pinkie finger bones","Irregular end part of the pinky finger bones"],[9152,10233]],[9388,"Ivory epiphyses of the 5th finger",["Increased bone density of end part of the little finger","Increased bone density of end part of the pinkie finger","Increased bone density of end part of the pinky finger"],[9152,10234,100921]],[9389,"Pseudoepiphyses of the 5th finger",[],[9152,10235]],[9390,"Small epiphyses of the 5th finger",["Small end part of little finger bone","Small end part of pinkie finger bone","Small end part of pinky finger bone"],[9152,10236]],[9391,"Stippling of the epiphyses of the 5th finger",["Speckled calcifications in end part of little finger bone","Speckled calcifications in end part of pinkie finger bone","Speckled calcifications in end part of pinky finger bone"],[9152,10237]],[9392,"Triangular epiphyses of the 5th finger",["Delta-shaped epiphyses of the 5th finger","Triangular end part of the little finger","Triangular end part of the pinkie finger","Triangular end part of the pinky finger"],[9152,10238]],[9393,"Absent epiphyses of the 4th finger",["Absent end part of the ring finger bone"],[9174,10228]],[9394,"Bracket epiphyses of the 4th finger",["Bracket shaped end part of ring finger bones"],[9174,10229]],[9395,"Cone-shaped epiphyses of the 4th finger",["Cone-shaped end part of the ring finger bones"],[9174,10230]],[9396,"Enlarged epiphyses of the 4th finger",["Enlarged end part of the ring finger bones"],[9174,10231]],[9397,"Fragmentation of the epiphyses of the 4th finger",["Fragmentation of the end part of the ring finger bones"],[9174,10232]],[9398,"Irregular epiphyses of the 4th finger",["Irregular end part of the ring finger bones"],[9174,10233]],[9399,"Ivory epiphyses of the 4th finger",["Increased bone density of end part of the ring finger bone"],[9174,10234,100920]],[9400,"Pseudoepiphyses of the 4th finger",[],[9174,10235]],[9401,"Small epiphyses of the 4th finger",["Small end part of ring finger bone"],[9174,10236]],[9402,"Stippling of the epiphyses of the 4th finger",["Speckled calcifications in end part of ring finger bone"],[9174,10237]],[9403,"Triangular epiphyses of the 4th finger",["Delta-shaped epiphyses of the 4th finger","Triangular end part of ring finger bone"],[9174,10238]],[9404,"Broad phalanges of the 4th finger",["Broad bones of ring finger"],[9172,9768]],[9405,"Bullet-shaped phalanges of the 4th finger",["Bullet-shaped of bone of ring finger"],[9172,9769]],[9406,"Patchy sclerosis of 4th finger phalanx",["Patchy sclerosis of the phalanges of the 4th finger","Uneven increase in bone density in ring finger bone"],[9772,100920]],[9407,"Triangular shaped phalanges of the 4th finger",["Triangular shaped bone of ring finger"],[9172,9774]],[9408,"Aplasia/Hypoplasia of the phalanges of the 4th finger",["Absent/small ring finger bones","Absent/underdeveloped ring finger bones"],[9172,9767]],[9410,"Absent epiphyses of the 3rd finger",["Absent end part of middle finger bone"],[9320,10228]],[9411,"Bracket epiphyses of the 3rd finger",["Bracket shaped end part of middle finger bone"],[9320,10229]],[9412,"Cone-shaped epiphyses of the 3rd finger",["Cone-shaped end part of middle finger bone"],[9320,10230]],[9413,"Enlarged epiphyses of the 3rd finger",["Enlarged end part of middle finger bone"],[9320,10231]],[9414,"Fragmentation of the epiphyses of the 3rd finger",["Fragmentation of end part of middle finger bone"],[9320,10232]],[9415,"Irregular epiphyses of the 3rd finger",["Irregular end part of middle finger bone"],[9320,10233]],[9416,"Ivory epiphyses of the 3rd finger",["Increased bone density of end part of the middle finger bone"],[9320,10234,100919]],[9417,"Pseudoepiphyses of the 3rd finger",["Pseudoepiphyses of middle finger phalanges"],[9320,10235]],[9418,"Small epiphyses of the 3rd finger",["Small end part of middle finger bone"],[9320,10236]],[9419,"Stippling of the epiphyses of the 3rd finger",["Speckled calcifications in end part of middle finger bone"],[9320,10237]],[9420,"Triangular epiphyses of the 3rd finger",["Delta-shaped epiphyses of the 3rd finger","Triangular end part of middle finger bone"],[9320,10238]],[9421,"Aplasia/Hypoplasia of the distal phalanx of the 3rd finger",["Absent/small outermost middle finger bone","Absent/underdeveloped outermost middle finger bone"],[9357,9447]],[9422,"Broad distal phalanx of the 3rd finger",["Broad outermost bone of middle finger"],[9357,9440,9836]],[9423,"Bullet-shaped distal phalanx of the 3rd finger",["Bullet-shaped outermost bone of the middle finger"],[9357,9441,9837]],[9424,"Osteolytic defects of the distal phalanx of the 3rd finger",["Lytic defect of terminal phalanx of middle finger"],[9357,9443,9839]],[9425,"Patchy sclerosis of the distal phalanx of the 3rd finger",["Uneven increase in bone density in the outermost bone of the 3rd finger"],[9357,9444,9840,100901]],[9426,"Distal third finger symphalangism",["Fused outermost and middle bones of middle finger","Symphalangism of the distal and middle phalanges of the 3rd finger"],[1204,9445]],[9427,"Triangular shaped distal phalanx of the 3rd finger",["Triangular shaped outermost bone of the middle finger"],[9357,9446,9875]],[9428,"Curved distal phalanx of the 3rd finger",["Curved outermost bone of the 3rd finger"],[9357,9442,9838]],[9429,"Aplasia of the distal phalanx of the 3rd finger",["Absent of the outermost bone of the middle finger"],[9421,9460,9881]],[9430,"Broad middle phalanx of the 3rd finger",["Broad middle bone of middle finger","Wide/broad middle phalanx of middle-finger"],[4172,9440,9844]],[9431,"Bullet-shaped middle phalanx of the 3rd finger",["Bullet-shaped middle bone of middle finger"],[4172,9441,9845]],[9432,"Curved middle phalanx of the 3rd finger",["Curved middle bone of the middle finger"],[4172,9442,9846]],[9433,"Osteolytic defects of the middle phalanx of the 3rd finger",[],[4172,9443,9847]],[9434,"Patchy sclerosis of the middle phalanx of the 3rd finger",["Uneven increase in bone density in the middle bone of the middle finger"],[4172,9444,9848,100905]],[9436,"Triangular shaped middle phalanx of the 3rd finger",["Triangular shaped middle bone of the middle finger"],[4172,9446,9850]],[9437,"Aplasia/Hypoplasia of the middle phalanx of the 3rd finger",["Absent/small middle bone of the middle finger","Absent/underdeveloped middle bone of the middle finger"],[4172,9447]],[9438,"Absent middle phalanx of 3rd finger",["Absent middle bone of middle finger","Absent middle phalanx of middle finger","Aplasia of the middle phalanx of the 3rd finger"],[9437,9460,10239]],[9439,"Short middle phalanx of the 3rd finger",["Brachymesophalangy III (finger)","Hypoplastic/small middle phalanx of the 3rd finger","Short middle bone of middle finger"],[5819,9437,9461]],[9440,"Broad phalanges of the 3rd finger",["Wide bones of middle finger","Wide/broad middle finger phalanges"],[9316,9768]],[9441,"Bullet-shaped phalanges of the 3rd finger",["Bullet-shaped bones of middle finger"],[9316,9769]],[9442,"Curved phalanges of the 3rd finger",["Curved bones of middle finger"],[4095,9316,9770]],[9443,"Osteolytic defects of the phalanges of the 3rd finger",["Lytic defects of middle finger phalanges"],[9316,9771]],[9444,"Patchy sclerosis of 3rd finger phalanx",["Patchy sclerosis of middle finger phalanges","Patchy sclerosis of the phalanges of the 3rd finger","Uneven increase in bone density in middle finger bone"],[9772,100919]],[9445,"Third finger symphalangism",["Fused middle finger"],[9316,9700]],[9446,"Triangular shaped phalanges of the 3rd finger",["Triangular shaped bone of the middle finger"],[9316,9774]],[9447,"Aplasia/Hypoplasia of the phalanges of the 3rd finger",["Absent/small middle finger bone","Absent/underdeveloped middle finger bone","Hypoplastic middle finger phalanges","Short middle finger phalanges","Small middle finger phalanges"],[9316,9767]],[9450,"Broad proximal phalanx of the 3rd finger",["Broad innermost bone of middle finger"],[9358,9440,9852]],[9451,"Bullet-shaped proximal phalanx of the 3rd finger",["Bullet-shaped innermost bone of the middle finger"],[9358,9441,9853]],[9452,"Curved proximal phalanx of the 3rd finger",["Curved innermost bone of middle finger"],[9358,9442,9854]],[9453,"Osteolytic defects of the proximal phalanx of the 3rd finger",[],[9358,9443,9855]],[9454,"Patchy sclerosis of the proximal phalanx of the 3rd finger",["Uneven increase in bone density in the innermost bone of the middle finger"],[9358,9444,9856,100909]],[9456,"Triangular shaped proximal phalanx of the 3rd finger",["Triangular shaped innermost bone of middle finger"],[9358,9446,9858]],[9457,"Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger",["Absent/small innermost bone of middle finger","Absent/underdeveloped innermost bone of middle finger"],[9358,9447]],[9458,"Aplasia of the proximal phalanx of the 3rd finger",["Absent innermost bone of middle finger"],[9457,9460,10242]],[9459,"Short proximal phalanx of the 3rd finger",["Hypoplastic/small proximal phalanx of the 3rd finger","Short innermost bone of middle finger","Short proximal middle-finger phalanx","Short proximal phalanx of the third finger","Small proximal middle-finger phalanx"],[9457,9461,10241]],[9460,"Aplasia of the 3rd finger",["Absent middle finger"],[9318,9380]],[9461,"Short 3rd finger",["Hypoplastic/small 3rd finger","Short middle finger"],[9318,9381]],[9462,"Radial deviation of the 3rd finger",["Inward turned middle finger"],[9317,9466]],[9463,"Ulnar deviation of the 3rd finger",["Ulnar deviation of middle fingers"],[9317,9465]],[9464,"Ulnar deviation of the 2nd finger",["Medially deviated index finger","Second finger ulnar deviation","Ulnar angulation of the index finger","Ulnar deviation of index fingers"],[9465,9468]],[9465,"Ulnar deviation of finger",["Finger bends toward pinky","Ulnar Drift"],[1193,4097]],[9466,"Radial deviation of finger",["Radially deviated fingers","Radially deviated phalanges"],[4097,9485]],[9467,"Radial deviation of the 2nd finger",["Radially deviated index finger"],[9466,9468]],[9468,"Deviation of the 2nd finger",["Deviated index finger","Displaced index finger"],[4097,4100]],[9469,"Contracture of the distal interphalangeal joint of the 3rd finger",["Contracture of the outermost hinge joint of the 3rd finger"],[9319,9697]],[9470,"Contracture of the metacarpophalangeal joint of the 3rd finger",[],[9319]],[9471,"Contracture of the proximal interphalangeal joint of the 3rd finger",["Camptodactyly of the 3rd finger","Camptodactyly of the third finger"],[9319,100490]],[9473,"Joint contracture of the hand",["Contractures involving the hands","Contractures of the hands"],[1155,9810,100360]],[9477,"Proximal fourth finger symphalangism",["Fused innermost and middle bone of fourth finger"],[4197,6152]],[9478,"Fourth ray metacarpophalangeal synostosis",["Fused innermost bone of ring finger with 4th long bone of hand"],[5880,9707]],[9482,"Proximal third finger symphalangism",["Fused of innermost and middle bones of middle finger"],[6152,9445]],[9483,"Third ray metacarpophalangeal synostosis",["Fused innermost bones of middle finger with middle long bone of hand"],[5880,9706]],[9484,"Deviation of the hand or of fingers of the hand",["Displaced hand or fingers of the hand"],[5922]],[9485,"Radial deviation of the hand or of fingers of the hand",[],[9484]],[9486,"Radial deviation of the hand",["Radial deviation of hands"],[9485]],[9487,"Ulnar deviation of the hand",["Ulnar deviation of hands","Ulnar deviation of the hands"],[1193]],[9488,"Absent epiphyses of the 2nd finger",["Absent end part of index finger"],[6263,10228]],[9489,"Bracket epiphyses of the 2nd finger",["Bracket shaped end part of index finger","Bracket-epiphyses of index finger"],[6263,10229]],[9490,"Cone-shaped epiphyses of the 2nd finger",["Cone-shaped end part of the index finger"],[6263,10230]],[9491,"Enlarged epiphyses of the 2nd finger",["Enlarged end part of the index finger"],[6263,10231]],[9492,"Fragmentation of the epiphyses of the 2nd finger",["Fragmentation of end part of the index finger"],[6263,10232]],[9493,"Irregular epiphyses of the 2nd finger",["Irregular end part of the index finger"],[6263,10233]],[9494,"Ivory epiphyses of the 2nd finger",["Increased bone density of end part of the index finger bone"],[6263,10234,100918]],[9495,"Pseudoepiphysis of the 2nd finger",["Accessory index finger epiphysis"],[6263,10235]],[9496,"Small epiphyses of the 2nd finger",["Small end part of the index finger"],[6263,10236]],[9497,"Stippling of the epiphyses of the 2nd finger",["Speckled calcifications in end part of the index finger"],[6263,10237]],[9498,"Triangular epiphyses of the 2nd finger",["Triangular end part of the index finger"],[6263,10238]],[9499,"Abnormality of the epiphysis of the distal phalanx of the 2nd finger",["Abnormality of the end part of the outermost bone of the index finger","Epiphyseal abnormality of terminal index finger phalanx"],[6263,9542,10243]],[9500,"Abnormality of the epiphysis of the middle phalanx of the 2nd finger",["Abnormality of end part of the middle bone of the index finger","Epiphyseal abnormality of middle phalanx of the 2nd finger"],[6263,9543,10244]],[9501,"Abnormality of the epiphysis of the proximal phalanx of the 2nd finger",["Epiphyseal abnormality of the proximal phalanx of the 2nd finger"],[6263,9544,10245]],[9502,"Absent epiphysis of the distal phalanx of the 2nd finger",["Absent end part of the outermost bone of the index finger","Absent ossification/absent epiphysis of terminal index finger phalanx"],[9488,9499,10246]],[9503,"Bracket epiphysis of the distal phalanx of the 2nd finger",["Bracket shaped end part of the outermost bone of the index finger"],[9489,9499,10247]],[9504,"Cone-shaped epiphysis of the distal phalanx of the 2nd finger",["Cone-shaped end part of the outermost bone of the index finger"],[9490,9499,10248]],[9505,"Enlarged epiphysis of the distal phalanx of the 2nd finger",["Enlarged end part of the outermost bone of the index finger"],[9491,9499,10249]],[9506,"Fragmentation of the epiphysis of the distal phalanx of the 2nd finger",["Fragmentation of end part of the outermost bone of the index finger"],[9492,9499,10250]],[9507,"Irregular epiphysis of the distal phalanx of the 2nd finger",["Irregular end part of the outermost bone of the index finger"],[9493,9499,10251]],[9508,"Ivory epiphysis of the distal phalanx of the 2nd finger",["Increased bone density of end part of the outermost bone of the index finger","Ivory epiphysis of terminal index finger phalanx"],[9494,9499,10252]],[9509,"Pseudoepiphysis of the distal phalanx of the 2nd finger",[],[9495,9499,10253]],[9510,"Small epiphysis of the distal phalanx of the 2nd finger",["Small end part of the outermost bone of the index finger"],[9496,9499,10254]],[9511,"Stippling of the epiphysis of the distal phalanx of the 2nd finger",["Speckled calcifications in end part of the outermost bone of the index finger"],[9497,9499,10255]],[9512,"Triangular epiphysis of the distal phalanx of the 2nd finger",["Triangular end part of the outermost bone of the index finger"],[9498,9499,10256]],[9513,"Absent epiphysis of the middle phalanx of the 2nd finger",["Absent epiphyses of middle phalanx of index finger","Missing end part of the middle long bone of the index finger"],[9488,9500,10257]],[9514,"Bracket epiphysis of the middle phalanx of the 2nd finger",["Bracket shaped end part of the middle long bone of the index finger"],[9489,9500,10258]],[9515,"Cone-shaped epiphysis of the middle phalanx of the 2nd finger",["Cone-shaped end part of the middle long bone of the index finger","Cone-shaped epiphyses of middle phalanx of index finger"],[9490,9500,10259]],[9516,"Enlarged epiphysis of the middle phalanx of the 2nd finger",["Enlarged end part of the middle bone of the index finger"],[9491,9500,10260]],[9517,"Fragmentation of the epiphysis of the middle phalanx of the 2nd finger",["Fragmentation of end part of the middle long bone of the index finger"],[9492,9500,10261]],[9518,"Irregular epiphysis of the middle phalanx of the 2nd finger",["Irregular end part of the middle long bone of the index finger"],[9493,9500,10262]],[9519,"Ivory epiphysis of the middle phalanx of the 2nd finger",["Increased bone density of end part of the middle bone of the index finger"],[9494,9500,10263]],[9520,"Pseudoepiphysis of the middle phalanx of the 2nd finger",[],[9495,9500,10264]],[9521,"Small epiphysis of the middle phalanx of the 2nd finger",["Small end part of the innermost long bone of index finger"],[9496,9500,10265]],[9522,"Stippling of the epiphysis of the middle phalanx of the 2nd finger",["Speckled calcifications in end part of the middle bone of the index finger"],[9497,9500,10266]],[9523,"Triangular epiphysis of the middle phalanx of the 2nd finger",["Triangular end part of the middle bone of the index finger"],[9498,9500,10267]],[9524,"Absent epiphysis of the proximal phalanx of the 2nd finger",["Absent end part of innermost long bone of index finger"],[9488,9501,10268]],[9525,"Bracket epiphysis of the proximal phalanx of the 2nd finger",["Bracket epiphyses of proximal index finger phalanx","Bracket shaped end part of innermost long bone of index finger"],[9489,9501,10269]],[9526,"Cone-shaped epiphysis of the proximal phalanx of the 2nd finger",["Cone-shaped end part of innermost long bone of index finger","Cone-shaped epiphysis of proximal index finger phalanx"],[9490,9501,10270]],[9527,"Enlarged epiphysis of the proximal phalanx of the 2nd finger",["Enlarged end part of innermost long bone of index finger","Large epiphysis of proximal index finger phalanx"],[9491,9501,10271]],[9528,"Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger",["Fragmentation of end part of innermost long bone of index finger"],[9492,9501,10272]],[9529,"Irregular epiphysis of the proximal phalanx of the 2nd finger",["Irregular end part of innermost long bone of index finger"],[9493,9501,10273]],[9530,"Ivory epiphysis of the proximal phalanx of the 2nd finger",["Increased bone density of end part of the innermost bone of the index finger"],[9494,9501,10274]],[9531,"Pseudoepiphysis of the proximal phalanx of the 2nd finger",[],[9495,9501,10275]],[9532,"Small epiphysis of the proximal phalanx of the 2nd finger",["Small end part of proximal long bond of index finger"],[9496,9501,10276]],[9533,"Stippling of the epiphysis of the proximal phalanx of the 2nd finger",["Speckled calcifications in end part of the innermost long bone of index finger"],[9497,9501,10277]],[9534,"Triangular epiphysis of the proximal phalanx of the 2nd finger",["Triangular end part of innermost long bone of index finger","Triangular epiphysis of proximal index finger phalanx"],[9498,9501,10278]],[9535,"Aplasia of the 2nd finger",["Absent index finger","Absent index finger phalanges","Aplasia of the index finger"],[6264,9380]],[9536,"Short 2nd finger",["Hypoplastic index finger phalanges","Hypoplastic/small index finger","Short index finger","Short index finger phalanges","Short index fingers"],[6264,9381]],[9537,"Flexion contracture of the 2nd finger",["Joint contractures of the 2nd finger"],[4100,12785]],[9538,"Contracture of the distal interphalangeal joint of the 2nd finger",[],[9537,9697]],[9539,"Contracture of the metacarpophalangeal joint of the 2nd finger",[],[9537]],[9540,"Contracture of the proximal interphalangeal joint of the 2nd finger",["Camptodactyly of 2nd finger","Camptodactyly of index finger","Camptodactyly of second finger"],[9537,100490]],[9541,"Abnormality of the phalanges of the 2nd finger",["Abnormal index finger bones","Abnormality of 2nd finger phalanges"],[4100]],[9542,"Abnormality of the distal phalanx of the 2nd finger",["Abnormality of terminal index finger phalanx","Abnormality of the outermost bone of the 2nd finger"],[9541]],[9543,"Abnormality of the middle phalanx of the 2nd finger",["Abnormal middle index finger bone","Abnormality of middle 2nd finger phalanx"],[9541]],[9544,"Abnormality of the proximal phalanx of the 2nd finger",["Abnormal innermost index finger bone","Abnormality of the proximal 2nd finger phalanx"],[9541]],[9545,"Second finger symphalangism",["Fused index finger bones","Symphalangism of index finger phalanges"],[9541,9700]],[9546,"Triangular shaped phalanges of the 2nd finger",["Triangular bones of index finger","Triangular index finger phalanges"],[9541]],[9547,"Broad phalanges of the 2nd finger",["Wide index finger bones","Wide/broad index finger phalanges"],[9541,9768]],[9548,"Bullet-shaped phalanges of the 2nd finger",["Bullet-shaped index finger bones"],[9769]],[9549,"Curved phalanges of the 2nd finger",["Curved index finger bones"],[4095,9541,9770]],[9550,"Osteolytic defects of the phalanges of the 2nd finger",["Lytic defect in index finger phalanges"],[9541,9771]],[9551,"Patchy sclerosis of 2nd finger phalanx",["Patchy sclerosis of the phalanges of the 2nd finger","Uneven increase in bone density in index finger bone"],[9772,100918]],[9552,"Aplasia/Hypoplasia of the phalanges of the 2nd finger",["Absent/small index finger bone","Absent/underdeveloped index finger bone"],[9541,9767]],[9553,"Abnormality of the hairline",[],[11361,100037]],[9554,"Preauricular hair displacement",["Hair displacement, preauricular, towards lateral cheekbone","Hair growing down to cheek","Projection of scalp hair onto lateral cheek"],[9553]],[9555,"Hypoplasia of the pharynx",["Small pharynx","Decreased size of pharynx","Underdevelopment of pharynx","Decreased diameter of pharynx","Decreased length of pharynx","Decreased volume of pharynx","Decreased width of pharynx","Hypotrophic pharynx"],[33151]],[9556,"Absent tibia",["Absent shankbone","Absent shinbone","Aplasia of the tibia"],[5772,9817]],[9557,"Aplasia/Hypoplasia of the distal phalanx of the 2nd finger",["Absent/small outermost index finger bone","Absent/underdeveloped outermost index finger bone"],[9542,9552]],[9558,"Broad distal phalanx of the 2nd finger",["Wide outermost bone of the index finger"],[9542,9547,9836]],[9559,"Bullet-shaped distal phalanx of the 2nd finger",["Bullet-shaped outermost bone of the index finger"],[9542,9548,9837]],[9560,"Curved distal phalanx of the 2nd finger",["Curved outermost bone of the index finger"],[9542,9549,9838]],[9561,"Osteolytic defects of the distal phalanx of the 2nd finger",["Acro-osteolysis of index finger","Acro-osteolysis of terminal index finger phalanx","Osteolytic defects of the outermost bone of the 2nd finger"],[9542,9550,9839]],[9562,"Patchy sclerosis of the distal phalanx of the 2nd finger",["Uneven increase in bone density in the outermost bone of the 2nd finger"],[9542,9551,9840,100900]],[9563,"Distal second finger symphalangism",["Fused outermost and middle index finger bones","Symphalangism of the distal and middle phalanges of the 2nd finger"],[1204,9545]],[9564,"Triangular shaped distal phalanx of the 2nd finger",["Triangular shaped outermost bone of the 2nd finger"],[9542,9546,9875]],[9565,"Aplasia of the distal phalanx of the 2nd finger",["Absent outermost index finger bone","Absent terminal index finger phalanx"],[9535,9557,9881]],[9566,"Short distal phalanx of the 2nd finger",["Hypoplastic terminal index finger phalanx","Hypoplastic/small distal phalanx of the 2nd finger","Short distal phalanx of the second finger","Short outermost bone of the index finger","Short terminal index finger phalanx"],[9536,9557,9882]],[9568,"Aplasia/Hypoplasia of the middle phalanx of the 2nd finger",["Absent/hypoplastic middle phalanx of 2nd finger","Absent/small middle index finger bone","Absent/underdeveloped middle index finger bone","Hypoplastic/aplastic middle phalanx of index finger"],[9543,9552]],[9569,"Broad middle phalanx of the 2nd finger",["Broad middle bone of the index finger"],[9543,9547,9844]],[9570,"Bullet-shaped middle phalanx of the 2nd finger",["Bullet-shaped middle bone of index finger"],[9543,9548,9845]],[9571,"Curved middle phalanx of the 2nd finger",["Curved middle bone of the index finger"],[9543,9549,9846]],[9572,"Osteolytic defects of the middle phalanx of the 2nd finger",["Lytic defects of middle index finger phalanx"],[9543,9550,9847]],[9573,"Patchy sclerosis of the middle phalanx of the 2nd finger",["Uneven increase in bone density in the middle bone of the index finger"],[9543,9551,9848,100904]],[9575,"Triangular shaped middle phalanx of the 2nd finger",["Triangular shaped middle bone of index finger"],[9543,9546,9850]],[9576,"Absent middle phalanx of 2nd finger",["Absent middle bone of index finger","Absent middle phalanx of index finger","Aplasia of the middle phalanx of the 2nd finger"],[9535,9568,10239]],[9577,"Short middle phalanx of the 2nd finger",["Brachymesophalangy II (finger)","Hypoplastic middle index finger phalanx","Hypoplastic/small middle phalanx of the 2nd finger","Short middle bone of index finger"],[5819,9536,9568]],[9579,"Proximal second finger symphalangism",["Fused innermost and middle index finger bones"],[6152,9545]],[9580,"Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger",["Absent/small innermost index finger bone","Absent/underdeveloped innermost index finger bone"],[9544,9552]],[9581,"Broad proximal phalanx of the 2nd finger",["Wide innermost bone of index finger","Wide/broad proximal index finger phalanx"],[9544,9547,9852]],[9582,"Bullet-shaped proximal phalanx of the 2nd finger",["Bullet-shaped innermost bone of index finger"],[9544,9548,9853]],[9583,"Curved proximal phalanx of the 2nd finger",["Curved innermost bone of index finger"],[9544,9549,9854]],[9584,"Osteolytic defects of the proximal phalanx of the 2nd finger",["Lytic defects of proximal index finger phalanx"],[9544,9550,9855]],[9585,"Patchy sclerosis of the proximal phalanx of the 2nd finger",["Uneven increase in bone density in innermost index finger bone"],[9544,9551,9856,100908]],[9587,"Triangular shaped proximal phalanx of the 2nd finger",["Triangular proximal index finger phalanx","Triangular shaped innermost bone of index finger"],[9544,9546,9858]],[9588,"Vestibular schwannoma",["Acoustic Neuroma","Vestibular Schwann cell tumor","Vestibular Schwann cell tumour","Vestibular neurilemmoma","Vestibular neurinoma","Vestibular neurolemmoma"],[9591,40096,100008]],[9589,"Bilateral vestibular schwannoma",["Bilateral acoustic neuromas"],[9588]],[9590,"Unilateral vestibular schwannoma",[],[9588]],[9591,"Abnormal vestibulocochlear nerve morphology",["Abnormal eighth cranial nerve morphology","Abnormality of the VIIIth cranial nerve","Abnormality of the vestibulocochlear nerve"],[1291]],[9592,"Astrocytoma",[],[9733,100707]],[9593,"Peripheral schwannoma",[],[8069,100008]],[9594,"Retinal hamartoma",[],[479,10568]],[9596,"Aplasia of the proximal phalanx of the 2nd finger",["Absent innermost bone of index finger"],[9535,9580,10242]],[9597,"Short proximal phalanx of the 2nd finger",["Hypoplastic/small proximal phalanx of the 2nd finger","Short proximal index finger phalanx","Short proximal phalanx of the second finger"],[9536,9580,10241]],[9598,"Second ray metacarpophalangeal synostosis",["Fused innermost bone of index finger with 2nd long bone of hand"],[5880,9705]],[9599,"Abnormality of thumb epiphysis",["Abnormality of end part of thumb long bone","Abnormality of the epiphyses of the thumb","Abnormality of thumb epiphyses"],[1172,5920]],[9600,"Thumb contracture",["Contracture of thumb","Flexion deformities of thumbs","Joint contractures of the thumb","Thumb joint contracture"],[1172]],[9601,"Aplasia/Hypoplasia of the thumb",["Absent or hypoplastic thumbs","Absent/hypoplastic thumb","Absent/hypoplastic thumbs","Absent/small thumb","Absent/underdeveloped thumb","Aplasia/hypoplasia of thumbs","Aplastic/hypoplastic thumbs","Hypoplastic to aplastic thumbs","Hypoplastic/absent thumb","Thumb aplasia/hypoplasia"],[1172,6265]],[9602,"Abnormality of thumb phalanx",["Abnormality of the thumb bones","Abnormality of thumb phalanges"],[1172]],[9603,"Deviation of the thumb",["Abnormal thumb placement","Deviated thumb","Displacement of the thumb"],[1172,4097]],[9606,"Complete duplication of distal phalanx of the thumb",["Complete duplication of outermost bone of the thumb"],[9612,9943,10001]],[9608,"Complete duplication of proximal phalanx of the thumb",["Complete duplication of the innermost bone of the thumb"],[9613,9943,10002]],[9609,"Duplication of the 1st metacarpal",["Partial/complete duplication of the 1st long bone of hand","Partial/complete duplication of the 1st metacarpal"],[10006,10009]],[9611,"Bifid distal phalanx of the thumb",["Bifid distal phalanx of thumb","Bifid terminal phalanges of thumbs","Bifid thumb distal phalanx","Incipient distal thumb phalanx duplication","Notched outermost bone of the thumb","Notched outermost bone of thumb","Notched terminal thumb phalanx"],[9612,9944,10004]],[9612,"Duplication of the distal phalanx of the thumb",["Double thumb distal phalanges","Duplicated terminal phalanx of thumb","Duplication of distal thumb phalanx","Duplication of terminal thumb phalanx","Duplication of the outermost bone of the thumb","Partial/complete duplication of the distal phalanx of the thumb"],[9617,9883,9942]],[9613,"Duplication of the proximal phalanx of the thumb",["Notched innermost bone of thumb","Partial/complete duplication of the proximal phalanx of the thumb"],[9618,9942,10008]],[9614,"Bifid proximal phalanx of the thumb",["Notched thumb bone"],[9613,9944,10005]],[9615,"Complete duplication of the first metacarpal",["Complete duplication of the first long bone of hand"],[9609,10000]],[9616,"Bifid first metacarpal",["Notched first long bone of hand","partial duplication of the first metacarpal"],[9609,10003]],[9617,"Abnormality of the distal phalanx of the thumb",["Abnormality of terminal thumb phalanx","Abnormality of the outermost bone of the thumb"],[9602]],[9618,"Abnormality of the proximal phalanx of the thumb",["Abnormal innermost thumb bone","Abnormality of proximal thumb phalanx"],[9602]],[9622,"Distally placed thumb",[],[9603]],[9623,"Proximal placement of thumb",["Attachment of thumb close to wrist","Low implantation of the thumb","Low-set thumb","Proximally placed thumbs"],[9603]],[9624,"Carpometacarpal thumb joint contracture",["Contracture of the carpometacarpal joint of the thumb"],[9600]],[9625,"Metacarpophalangeal thumb joint contracture",["Contracture of the metacarpophalangeal joint of the thumb"],[9600]],[9626,"Interphalangeal thumb joint contracture",["Contracture of the interphalangeal joint of the thumb","Interphalangeal extension contractures of thumbs"],[1220,9600]],[9629,"Aplasia/Hypoplasia of the proximal phalanx of the thumb",["Absent/small innermost thumb bone","Absent/underdeveloped innermost thumb bone"],[9618,9658]],[9630,"Broad proximal phalanx of the thumb",["Broad innermost thumb bone"],[9618,9844,9852,11304]],[9631,"Bullet-shaped proximal phalanx of the thumb",["Bullet-shaped innermost thumb bone"],[9618,9652,9845]],[9632,"Curved proximal phalanx of the thumb",["Curved innermost thumb bone"],[9618,9653,9846,9854]],[9633,"Osteolytic defect of the proximal phalanx of the thumb",["Osteolytic defects of the proximal phalanx of the thumb"],[9618,9654,9847]],[9634,"Patchy sclerosis of the proximal phalanx of the thumb",["Uneven increase in bone density in the innermost thumb bone"],[9618,9655,9848,100913]],[9635,"Synostosis of thumb phalanx",["Fusion of thumb bone"],[9618]],[9636,"Triangular shaped proximal phalanx of the thumb",["Triangular innermost thumb bone","Triangular proximal thumb phalanx"],[9618,9657,9850,9858]],[9637,"Absent proximal phalanx of thumb",["Absent innermost thumb bone","Absent ossification/absent proximal thumb phalanx","Aplasia of the proximal phalanx of the thumb"],[9629,9659,10239]],[9638,"Short proximal phalanx of thumb",["Hypoplastic/small proximal phalanx of the thumb","Short proximal phalanges of thumb","Short proximal thumb bone","Short proximal thumb phalanx"],[5819,9617,9629,9660]],[9640,"First ray metacarpophalangeal synostosis",["Ankylosis of the metacarpophalangeal joint of the thumb","Fusion of the innermost bone of the thumb with the 1st long bone of hand"],[5880,9635,9703]],[9641,"Aplasia/Hypoplasia of the distal phalanx of the thumb",["Absent/small outermost thumb bone","Absent/underdeveloped outermost thumb bone"],[9617]],[9642,"Broad distal phalanx of the thumb",["Broad outermost bone of the thumb","Broad terminal thumb phalanx","Wide distal phalanx of thumb","Wide outermost bone of thumb"],[9617,9836,11304]],[9643,"Bullet-shaped distal phalanx of the thumb",["Bullet-shaped outermost bone of the thumb"],[9617,9652,9837]],[9644,"Curved distal phalanx of the thumb",["Curved outermost bone of the thumb"],[9617,9653,9838]],[9645,"Osteolytic defect of the distal phalanx of the thumb",["Osteolytic defects of the distal phalanx of the thumb","Osteolytic defects of the outermost bone of the thumb"],[9617,9654,9839]],[9646,"Patchy sclerosis of the distal phalanx of the thumb",["Uneven increase in bone density in the outermost bone of the thumb"],[9617,9655,9840,100912]],[9648,"Triangular shaped distal phalanx of the thumb",["Triangular shaped outermost bone of the thumb"],[9617,9657,9875]],[9649,"Aplasia of the distal phalanx of the thumb",["Absence of the outermost bone of the thumb","Absent ossification/absent terminal thumb phalanx","Aplasia of the outermost bone of the thumb"],[9641,9659,9881]],[9650,"Short distal phalanx of the thumb",["Hypoplastic terminal thumb phalanx","Hypoplastic/small distal phalanx of the thumb","Short outermost bone of the thumb","Short terminal thumb phalanx","Short thumb terminal phalanx","Small terminal thumb phalanx"],[9641,9660,9882]],[9652,"Bullet-shaped thumb phalanx",["Bullet-shaped phalanges of the thumb","Bullet-shaped thumb bone"],[9602,9769]],[9653,"Curved thumb phalanx",["Curved phalanges of the thumb","Curved thumb bone"],[4095,9602,9770]],[9654,"Osteolytic defect of thumb phalanx",["Osteolytic defects of the phalanges of the thumb"],[9602,9771]],[9655,"Patchy sclerosis of thumb phalanx",["Patchy sclerosis of the phalanges of the thumb","Uneven increase in bone density in thumb bone"],[9772,100922]],[9656,"Thumb symphalangism",["Fused thumb bones","Fused thumb phalanges","Symphalangism of the distal and proximal phalanges of the thumb"],[1204,9617,9635]],[9657,"Triangular shaped thumb phalanx",["Triangular shaped phalanges of the thumb","Triangular shaped thumb bone","Triangular thumb phalanges"],[9602]],[9658,"Aplasia/Hypoplasia of the phalanges of the thumb",["Absent/small thumb bones","Absent/underdeveloped thumb bones"],[9602,9767]],[9659,"Partial absence of thumb",["Aplasia of the phalanges of the thumb"],[9601,9658]],[9660,"Short phalanx of the thumb",["Hypoplastic thumb phalanges","Hypoplastic/small phalanges of the thumb","Short thumb bone","Short thumb phalanges"],[9658,9778]],[9662,"Abnormality of the epiphysis of the distal phalanx of the thumb",["Abnormality of terminal thumb epiphysis","Abnormality of the end part of the outermost bone of the thumb"],[9599,9617,10243]],[9663,"Abnormality of the epiphysis of the proximal phalanx of the thumb",["Abnormality of end part of thumb innermost long bone"],[9599,9618,10244]],[9664,"Absent epiphysis of the proximal phalanx of the thumb",["Absent end part of thumb innermost long bone"],[9663,9686,10257]],[9665,"Bracket epiphysis of the proximal phalanx of the thumb",["Bracket shaped end part of thumb innermost long bone"],[9663,9687,10258]],[9666,"Cone-shaped epiphysis of the proximal phalanx of the thumb",["Cone-shaped end part of thumb innermost long bone"],[9663,9688,10259]],[9667,"Enlarged epiphysis of the proximal phalanx of the thumb",["Enlarged end part of thumb innermost long bone"],[9663,9689,10260]],[9668,"Fragmentation of the epiphysis of the proximal phalanx of the thumb",["Fragmentation of end part of thumb innermost long bone"],[9663,9690,10261]],[9669,"Irregular epiphysis of the proximal phalanx of the thumb",["Irregular end part of thumb innermost long bone"],[9663,9691,10262]],[9670,"Ivory epiphysis of the proximal phalanx of the thumb",["Increased bone density of end part of the innermost bone of the thumb"],[9663,9692,10263]],[9671,"Pseudoepiphysis of the proximal phalanx of the thumb",[],[9663,9693,10264]],[9672,"Small epiphysis of the proximal phalanx of the thumb",["Small end part of thumb innermost long bone"],[9663,9694,10265]],[9673,"Stippling of the epiphysis of the proximal phalanx of the thumb",["Speckled calcifications in end part of thumb innermost long bone"],[9663,9695,10266]],[9674,"Triangular epiphysis of the proximal phalanx of the thumb",["Triangular end part of thumb innermost long bone"],[9663,9696,10267]],[9675,"Absent epiphysis of the distal phalanx of the thumb",["Absent end part of thumb outermost long bone"],[9662,9686,10246]],[9676,"Bracket epiphysis of the distal phalanx of the thumb",["Bracket shaped end part of thumb outermost long bone"],[9662,9687,10247]],[9677,"Cone-shaped epiphysis of the distal phalanx of the thumb",["Cone-shaped end part of thumb outermost long bone","Cone-shaped terminal thumb phalanx epiphysis"],[9662,9688,10248]],[9678,"Enlarged epiphysis of the distal phalanx of the thumb",["Enlarged end part of thumb outermost long bone","Large terminal thumb phalanx epiphysis"],[9662,9689,10249]],[9679,"Fragmentation of the epiphysis of the distal phalanx of the thumb",["Fragmentation of end part thumb outermost long bone"],[9662,9690,10250]],[9680,"Irregular epiphysis of the distal phalanx of the thumb",["Irregular end part of thumb outermost bone"],[9662,9691,10251]],[9681,"Ivory epiphysis of the distal phalanx of the thumb",["Increased bone density of end part of the outermost bone of the thumb"],[9662,9692,10252]],[9682,"Pseudoepiphysis of the distal phalanx of the thumb",["Pseudoepiphysis of the outermost bone of the thumb"],[9662,9693,10253]],[9683,"Small epiphysis of the distal phalanx of the thumb",["Small end part of thumb outermost bone"],[9662,9694,10254]],[9684,"Stippling of the epiphysis of the distal phalanx of the thumb",["Speckled calcifications in the end part of the outermost thumb bone"],[9662,9695,10255]],[9685,"Triangular epiphysis of the distal phalanx of the thumb",["Triangular end part of thumb outermost bone","Triangular epiphysis of the outermost bone of the thumb"],[9662,9696,10256]],[9686,"Absent epiphyses of the thumb",[],[9599,10228]],[9687,"Bracket epiphyses of the thumb",["Bracket shaped end part of the thumb bone"],[9599,10229]],[9688,"Cone-shaped epiphysis of the thumb",["Cone-shaped end part of thumb long bone","Cone-shaped epiphyses of the thumb","Cone-shaped thumb epiphyses"],[9599,10230]],[9689,"Enlarged thumb epiphysis",["Enlarged end part of thumb long bone","Enlarged epiphyses of the thumb"],[9599,10231]],[9690,"Fragmentation of thumb epiphysis",["Fragmentation of end part of long bone of thumb","Fragmentation of the epiphyses of the thumb"],[9599,10232]],[9691,"Irregular thumb epiphysis",["Irregular end part of thumb long bone","Irregular epiphyses of the thumb"],[9599,10233]],[9692,"Ivory epiphysis of the thumb",["Increased bone density of end part of the thumb","Ivory epiphyses of the thumb"],[9599,10234,100922]],[9693,"Pseudoepiphysis of the thumb",["Pseudoepiphyses of the thumb"],[9599,10235]],[9694,"Small thumb epiphysis",["Small end part of thumb long bone","Small epiphyses of the thumb"],[9599,10236]],[9695,"Stippling of thumb epiphysis",["Speckled calcifications in end part of thumb bone","Stippling of the epiphyses of the thumb"],[9599,10237]],[9696,"Triangular epiphyses of the thumb",["Triangular end part of the thumb bone"],[9599,10238]],[9697,"Contracture of the distal interphalangeal joint of the fingers",[],[1220]],[9699,"Osteolytic defects of the hand bones",["Lytic defects of hand bones"],[5922,45039]],[9700,"Finger symphalangism",["Fused finger bones","Symphalangism of the hand","Synostosis involving bones of the fingers"],[4278,5918,100262]],[9701,"Metacarpal synostosis",["Fused long bones of hand","Synostosis involving metacarpal bones","Synostosis involving the metacarpal bones"],[4278,5916,100265]],[9702,"Carpal synostosis",["Fused wrist bones","Carpal bone fusion","Carpal fusion","Fused carpal bones","Fusion of carpal bones","Synostosis involving the carpal bones"],[1191,4278,100266]],[9703,"Synostosis involving the 1st metacarpal",["First metacarpophalangeal joint synostosis","Fusion involving 1st long bone of hand","Symphalangism affecting the 1st metacarpal"],[9701,10009]],[9704,"Chronic CSF lymphocytosis",["Chronic cerebrospinal fluid lymphocytosis"],[200149]],[9705,"Synostosis involving the 2nd metacarpal",["Fusion involving the 2nd long bone of hand"],[9701,10010]],[9706,"Synostosis involving the 3rd metacarpal",["Fusion involving the 3rd long bone of hand"],[9701,10011]],[9707,"Synostosis involving the 4th metacarpal",["Fusion involving the 4th long bone of hand"],[9701,10012]],[9708,"Synostosis involving the 5th metacarpal",["Fusion involving the 5th long bone of hand"],[9701,10013]],[9709,"Increased CSF interferon alpha",[],[25454]],[9710,"Chilblains",["Chilblain lesions"],[11123]],[9711,"Retinal capillary hemangioma",[],[1028,9594,10797]],[9713,"Spinal hemangioblastoma",[],[10302,10797]],[9714,"Abnormal epididymis morphology",["Abnormality of the epididymis"],[22]],[9715,"Papillary cystadenoma of the epididymis",[],[9714,30421]],[9716,"Subependymal nodules",[],[2118,9731]],[9717,"Cortical tubers",[],[2538,9731]],[9718,"Subependymal giant-cell astrocytoma",[],[9592]],[9719,"Hypomelanotic macule",["Hypomelanotic macules"],[1010,20073]],[9720,"Adenoma sebaceum",["Facial angiofibromas","Sebaceous adenoma","Sebaceous adenomas"],[8069,10615,11799]],[9721,"Shagreen patch",[],[100898]],[9722,"Dental enamel pits",["Dental enamel pitting","Pitting of tooth enamel","Tooth enamel pits"],[682]],[9723,"Abnormal subungual morphology",["Abnormality of the subungual region"],[1597]],[9724,"Subungual fibromas",["Subungual fibroma"],[9723,10614]],[9725,"Bladder neoplasm",["Bladder cancer","Bladder tumor","Bladder tumour"],[10786]],[9726,"Renal neoplasm",["Kidney cancer","Neoplasia of the kidneys","Renal tumors","Renal tumours","Renal neoplasia"],[77,10786]],[9727,"Achromatic retinal patches",["Punched out areas of chorioretinal hypopigmentation"],[7894]],[9728,"Neoplasm of striated muscle",["Tumors of striated muscle","Tumours of striated muscle"],[3011,11793]],[9729,"Cardiac rhabdomyoma",[],[9730,100544]],[9730,"Rhabdomyoma",[],[9728]],[9731,"Cerebral hamartoma",["Cerebral hamartomata"],[10566,100835]],[9732,"Plexiform neurofibroma",[],[1067]],[9733,"Glioma",[],[30063,100705,100836]],[9734,"Optic nerve glioma",["Optic glioma"],[9733]],[9735,"Spinal neurofibroma",["Spinal neurofibromas"],[34761]],[9736,"Tibial pseudarthrosis",["Tibial pseudoarthrosis"],[2992,5864]],[9737,"Lisch nodules",["Iris hamartomas"],[10568,34819]],[9738,"Abnormal antihelix morphology",["Abnormal antehelix","Abnormal anthelix","Abnormal antihelix"],[377]],[9739,"Hypoplasia of the antihelix",["Hypoplastic antihelix"],[9738]],[9740,"Aplasia of the parotid gland",["Abnormally small parotid gland","Underdevelopment of parotid gland","Absence of the parotid gland","Hypoplasia of parotid gland"],[197]],[9741,"Nephrosclerosis",["Scarring of kidney arteries","Thickening of kidney artiries"],[12210]],[9742,"Stiff shoulders",[],[1387,33129]],[9743,"Distichiasis",["Distichiasis of eyelid eyelashes"],[8496]],[9744,"Abnormal spinal dura mater morphology",["Abnormality of the spinal dura mater"],[10303,10652]],[9745,"Spinal arachnoid cyst",["Epidural arachnoid cysts of the spinal canal"],[10303,100702]],[9746,"Thick nasal septum",["Broad nasal septum","Broad septum of nose","Thick septum of nose","Wide nasal septum","Wide septum of nose"],[419]],[9747,"Lumbosacral hirsutism",[],[9889]],[9748,"Large earlobe",["Fleshy earlobe","Fleshy earlobes","Prominent ear lobes","Prominent ear lobules"],[363]],[9751,"Aplasia of the pectoralis major muscle",["Absent pectoralis major muscle"],[5258,100854]],[9752,"Cleft in skull base",["Cleft in cranial base"],[2693]],[9754,"Fibrous syngnathia",["Alveolar synechiae","Fusion of the alveolar ridges"],[277,6477]],[9755,"Ankyloblepharon",["Adhesion of eyelids","Ankyloblepharon filiforme adnatum","Eyelid synechiae","Eyelids stuck together","Fused eyelid"],[492]],[9756,"Popliteal pterygium",[],[1059]],[9757,"Intercrural pterygium",[],[1059]],[9758,"Pyramidal skinfold extending from the base to the top of the nails",[],[1597]],[9759,"Neck pterygia",["Neck pterygium"],[1059]],[9760,"Antecubital pterygium",["Pterygium cubitale","Webbed elbow"],[1059]],[9761,"Anterior clefting of vertebral bodies",[],[8428]],[9762,"Facial wrinkling",[],[100678]],[9763,"Limb pain",["Pain in extremities"],[11843,12531]],[9765,"Low hanging columella",["Columella, low","Columella, low hanging","Extension of the columella below the ala nasi","Low-hanging columella","Columella extends below the ala nasi","Prominent columella","Rounded columella"],[9929]],[9767,"Aplasia/Hypoplasia of the phalanges of the hand",["Aplastic/hypoplastic phalanges","Aplastic/hypoplastic phalanges of the hand","Hypoplastic/absent phalanges"],[5918]],[9768,"Broad phalanges of the hand",["Wide hand bones","Widening of phalanges of the hand"],[1500,5918,6009,40070]],[9769,"Bullet-shaped phalanges of the hand",["Bullet-shaped hand bones","Bullet-shaped phalanges of the hands","Conical bullet-shaped distal ends of phalanges"],[5918]],[9770,"Curved phalanges of the hand",["Curved hand bones"],[5918]],[9771,"Osteolytic defects of the phalanges of the hand",["Acro-osteolysis","Acroosteolysis","Breakdown of small bones of fingers"],[5918,9699]],[9772,"Patchy sclerosis of finger phalanx",["Patchy sclerosis of the phalanges of the hand","Phalangeal sclerosis","Uneven increase in bone density in finger bone"],[4286,5686,100899]],[9774,"Triangular shaped phalanges of the hand",["Delta phalanx/delta-like phalanx","Triangular shaped hand bones"],[5918]],[9775,"Amniotic constriction ring",["Amniotic bands","Congenital constriction band sequence","Pseudoainhum","Amniotic constriction band"],[11409]],[9776,"Adactyly",["Absent fingers or toes","Aphalangy"],[9380,10760,6000818]],[9777,"Absent thumb",["Absent thumbs","Aplasia of the thumb","Thumb aplasia"],[9380,9601]],[9778,"Short thumb",["Hypoplastic thumb","Hypoplastic thumbs","Hypoplastic/small thumb","Short thumbs","Small thumbs","Thumb brachydactyly","Thumb hypoplasia"],[9381,9601]],[9779,"3-4 toe syndactyly",["Webbed 3rd-4th toes","syndactyly of 3rd - 4th toes"],[1770]],[9780,"Iliac horns",[],[3796]],[9781,"Lester's sign",[],[1100]],[9782,"Aplasia/Hypoplasia of the biceps",["Absent/small biceps","Absent/underdeveloped biceps"],[1468]],[9783,"Biceps aplasia",["Absent biceps"],[9782,100854]],[9784,"Aplasia/Hypoplasia of the triceps",["Absent/small triceps","Absent/underdeveloped triceps"],[1468]],[9785,"Triceps aplasia",["Absent triceps"],[9784,100854]],[9786,"Aplasia/Hypoplasia of the musculature of the thigh",["Absent/small thigh muscles","Absent/underdeveloped thigh muscles"],[1441,9128]],[9787,"Aplasia/Hypoplasia of the quadriceps",["Absent/small quadriceps","Absent/underdeveloped quadriceps"],[9786]],[9788,"Quadriceps aplasia",["Absent quads"],[9787,100854]],[9789,"Perianal abscess",[],[31292,34915]],[9790,"Hemisacrum",[],[8490]],[9791,"Bifid sacrum",[],[8490]],[9792,"Teratoma",[],[2898,100728]],[9793,"Presacral teratoma",["Altman type IV sacrococcygeal teratoma","Retrorectal teratoma"],[30736]],[9794,"Branchial anomaly",["Abnormality of branchial apparatus","Abnormality of branchial arch","Branchial abnormality","Branchial anomalies"],[25668]],[9795,"Branchial fistula",["Branchial cleft fistula"],[9794]],[9796,"Branchial cyst",["Branchial cysts","Branchial cleft cyst"],[9794]],[9797,"Cholesteatoma",[],[8609,100799]],[9798,"Euthyroid goiter",["Euthyroid goitre"],[853]],[9799,"Supernumerary spleens",["Extra spleen"],[25408]],[9800,"Maternal diabetes",["gestational diabetes","maternal hyperglycemia"],[2686]],[9802,"Aplasia of the phalanges of the hand",["Absent finger bone of the hand"],[9767,9823]],[9803,"Short phalanx of finger",["Hypoplastic phalanges","Hypoplastic phalanges of hands","Hypoplastic/small phalanges of the hand","Phalangeal hypoplasia","Rudimentary phalanges","Short finger bones","Short phalanges","Shortened phalanges"],[9767]],[9804,"Tooth agenesis",["Decreased tooth count","Dental agenesis","Failure of development of some teeth","Reduced number of teeth","Teeth, agenesis","Decreased number of teeth","Fewer teeth than normal","Missing some teeth"],[6483]],[9805,"Low-output congestive heart failure",[],[1635]],[9806,"Nephrogenic diabetes insipidus",[],[873]],[9808,"Anomaly of the upper limb diaphyses",["Abnormality involving the diaphyses of the upper limbs","Abnormality of shaft of long bone of the upper limbs","Diaphyseal abnormality of the upper limbs"],[940,2817]],[9809,"Abnormal upper limb metaphysis morphology",["Abnormality of the wide portion of upper limb bone","Abnormality of upper limb metaphysis","Metaphyseal abnormality of the upper limbs"],[944,2817]],[9810,"Abnormality of upper limb joint",["Abnormality of the joints of the upper limbs"],[1367,2817]],[9811,"Abnormality of the elbow",["Abnormality of the elbows"],[9810]],[9812,"Amelia involving the upper limbs",[],[6496,9827,6000918]],[9813,"Upper limb phocomelia",[],[6496,9829]],[9814,"Upper limb peromelia",[],[6496,9828]],[9815,"Aplasia/hypoplasia of the extremities",["Absent/small extremities","Absent/underdeveloped extremities","Short or absent limbs","Shortened limbs"],[9115,40064]],[9816,"Lower limb undergrowth",["Hypoplasia involving bones of the lower limbs","Hypoplasia of the lower limbs","Underdeveloped lower limb bones"],[6493,9826]],[9817,"Aplasia involving bones of the lower limbs",["Absent bones of the lower limbs"],[6493,9825]],[9818,"Amelia involving the lower limbs",[],[6493,9827,6000946]],[9819,"Lower limb phocomelia",[],[6493,9829]],[9820,"Lower limb peromelia",[],[6494,9828]],[9821,"Forearm undergrowth",["Hypoplasia involving forearm bones","Short forearm bones","Short forearms","Shortened forearm"],[3026,6503,9824]],[9823,"Aplasia involving bones of the upper limbs",["Absent bones of the upper limbs"],[6496,9825]],[9824,"Upper limb undergrowth",["Hypoplasia involving bones of the upper limbs","Short arms","Shortening of the arms"],[6496,9826]],[9825,"Aplasia involving bones of the extremities",["Absent bones of the extremities"],[45060]],[9826,"Limb undergrowth",["Hypoplasia involving bones of the extremities","Short limb","Short limbs","limb shortening"],[9815]],[9827,"Amelia",[],[9815]],[9828,"Peromelia",[],[9815]],[9829,"Phocomelia",[],[9815,11314]],[9830,"Peripheral neuropathy",["Peripheral nerve damage","Peripheral neuritis","Neuropathy"],[32120]],[9831,"Mononeuropathy",["Single damaged nerve"],[9830]],[9832,"Abnormal distal phalanx morphology of finger",["Abnormal terminal phalanges of the hand","Abnormality of the distal phalanges of the hand","Abnormality of the distal phalanx of finger","Abnormality of the outermost finger bone"],[5918]],[9833,"Abnormal middle phalanx morphology of the hand",["Abnormality of the middle finger bones of the hand","Abnormality of the middle phalanges of the hand"],[5918]],[9834,"Abnormal proximal phalanx morphology of the hand",["Abnormality of the innermost finger bones of the hand","Abnormality of the proximal phalanges of the hand"],[5918]],[9835,"Aplasia/Hypoplasia of the distal phalanges of the hand",["Absent/hypoplastic distal phalanges","Absent/small outermost finger bone of the hand","Absent/underdeveloped outermost finger bone of the hand","Aplasia/Hypoplasia of the distal phalanges","Aplastic/hypoplastic distal phalanges","Hypoplastic to absent terminal phalanges","Hypoplastic/aplastic distal phalanges","Hypoplastic/aplastic distal phalanx","Small or absent distal phalanges"],[9767,9832]],[9836,"Broad distal phalanx of finger",["Broad distal phalanges","Broad distal phalanges of the hand","Broad distal phalanx","Broad outermost finger bone","Broad terminal phalanges","Broad, square ends of distal phalanges","Spatulate terminal phalanges"],[9768,9832]],[9837,"Bullet-shaped distal phalanges of the hand",["Bullet-shaped outermost finger bone of the hand"],[9769,9832]],[9838,"Curved distal phalanges of the hand",["Curved outermost finger bone of the hand"],[9770,9832]],[9839,"Osteolytic defects of the distal phalanges of the hand",["Acro-osteolysis of distal phalanges","Acroosteolysis of distal phalanges","Osteolytic defects of the outermost finger bone of the hand"],[9771,9832]],[9840,"Patchy sclerosis of distal phalanx of finger",["Patchy sclerosis of the distal phalanges of the hand","Uneven increase in bone density in outermost finger bone"],[9772,100915]],[9843,"Aplasia/Hypoplasia of the middle phalanges of the hand",["Absent/hypoplastic middle phalanges","Absent/small middle finger bone of the hand","Absent/underdeveloped middle finger bone of the hand","Aplasia/hypoplasia of middle phalanges","Aplastic/hypoplastic middle phalanges","Hypoplastic/aplastic middle phalanx","Short to absent middle phalanges","Short/absent middle phalanges"],[9767,9833]],[9844,"Broad middle phalanx of finger",["Broad middle finger bones","Broad middle phalanges of finger","Broad middle phalanges of the hand"],[9768,9833]],[9845,"Bullet-shaped middle phalanges of the hand",[],[9769,9833]],[9846,"Curved middle phalanges of the hand",["Curved middle finger bonds of the hand"],[9770,9833]],[9847,"Osteolytic defects of the middle phalanges of the hand",[],[9771,9833]],[9848,"Patchy sclerosis of middle phalanx of finger",["Patchy sclerosis of the middle phalanges of the hand","Uneven increase in bone density in the middle finger bones of the hand"],[9772,100916]],[9850,"Triangular shaped middle phalanges of the hand",["Triangular shaped middle finger bones of the hand"],[9774,9833]],[9851,"Aplasia/Hypoplasia of the proximal phalanges of the hand",["Absent/small innermost finger bones of the hand","Absent/underdeveloped innermost finger bones of the hand"],[9767,9834]],[9852,"Broad proximal phalanges of the hand",["Broad innermost finger bones of the hand","Wide innermost finger bones of the hand"],[9768,9834]],[9853,"Bullet-shaped proximal phalanges of the hand",["Bullet-shaped innermost finger bones of the hand"],[9769,9834]],[9854,"Curved proximal phalanges of the hand",["Curved innermost finger bones of the hand"],[9770,9834]],[9855,"Osteolytic defects of the proximal phalanges of the hand",["Proximal phalanges osteolysis"],[9771,9834]],[9856,"Patchy sclerosis of proximal phalanx of finger",["Patchy sclerosis of the proximal phalanges of the hand","Uneven increase in bone density in innermost finger bone"],[9772,100917]],[9858,"Triangular shaped proximal phalanges of the hand",["Triangular shaped innermost finger bone"],[9774,9834]],[9875,"Triangular shaped distal phalanges of the hand",["Triangular shaped outermost bone of the hand"],[9774,9832]],[9878,"Cerebellar ataxia associated with quadrupedal gait",[],[1251,1288]],[9879,"Simplified gyral pattern",["Cortical gyral simplification"],[2536]],[9880,"Broad distal phalanges of all fingers",["Broad outermost hand bones"],[9836]],[9881,"Aplasia of distal finger phalanx",["Absent distal finger phalanges","Absent distal finger phalanx","Absent distal phalanges of the hand","Absent outermost hand bone","Aplasia of outermost hand bone","Aplasia of the distal phalanges of the hand"],[9380,9802,9835]],[9882,"Short distal phalanx of finger",["Brachytelophalangy","Distal phalangeal hypoplasia","Hypoplasia of the distal phalanges","Hypoplasia of the distal phalanges of the hand","Hypoplastic distal phalanges","Hypoplastic terminal phalanges","Short distal phalanges","Short outermost finger bone","Terminal phalangeal hypoplasia of hand"],[9381,9803,9835]],[9883,"Duplication of the distal phalanx of hand",["Bifid terminal phalanges","Duplication of the outermost bone of hand","Notched outermost bone of hand","Partial/complete duplication of the distal phalanges of the hand"],[9832,9997]],[9884,"Tapered distal phalanges of finger",["Tapered distal phalanges","Tapered distal phalanges of the hand","Tapered outermost finger bone"],[9832]],[9886,"Trichorrhexis nodosa",[],[3328]],[9887,"Abnormality of hair pigmentation",["Abnormality of hair color","Abnormality of hair colour"],[1595]],[9888,"Abnormality of secondary sexual hair",[],[1595]],[9889,"Localized hirsutism",["Localised abnormal hair growth","Localised hirsutism","Localized abnormal hair growth"],[1007]],[9890,"High anterior hairline",["High frontal hairline"],[599]],[9891,"Underdeveloped supraorbital ridges",["Depressed supraorbital margins","Depressed supraorbital ridge","Flat supraorbital margins","Flat supraorbital ridge","Flattened bony protrusion above eyes","Hypoplasia of supraorbital margins","Hypoplasia of the supraorbital ridges","Hypoplastic supraorbital ridges","Shallow orbital ridges","Shallow supraorbital ridge","Underdeveloped brows"],[100538]],[9892,"Anotia",["Absent ear","Absent ears","Congenital absence of external ear"],[8772]],[9893,"Telangiectasia of the ear",[],[377,100585]],[9894,"Thickened ears",[],[377]],[9895,"Abnormality of the crus of the helix",["Abnormality of the crus of the ear"],[11039,3000022]],[9896,"Abnormal antitragus morphology",[],[377]],[9897,"Horizontal crus of helix",["Helix, crus, horizontal","Horizontal orientation of the crus of helix","Horizontal orientation of the ear crus","Railroad track ears","Railroad track sign"],[9895]],[9898,"Underdeveloped crus of the helix",["Hypoplasia of the crus of the ear","Underdeveloped crus of the ear"],[9895]],[9899,"Prominent crus of helix",["Abnormal prominence of the crus of the ear","Helix, crus, prominent","Hyperplastic helix crus","Hypertrophic helix crus"],[9895]],[9900,"Unilateral deafness",["Deafness in one ear","Deafness, unilateral"],[365]],[9901,"Crumpled ear",["Cauliflower ear"],[377]],[9902,"Cleft helix",["Notched helix","Notching of the ear helix"],[11039]],[9903,"Conjunctival nodule",[],[502]],[9904,"Prominent ear helix",["Large helix"],[11039]],[9905,"Thin ear helix",[],[11039]],[9906,"Aplasia/Hypoplasia of the earlobes",["Absent/small ear lobes","Absent/underdeveloped ear lobes"],[363]],[9907,"Attached earlobe",["Adherent earlobe"],[363]],[9908,"Anterior creases of earlobe",["Earlobe crease","Transverse earlobe creases"],[363]],[9909,"Uplifted earlobe",["Fleshy upturned lobules","Lobe, uplifted","Upturned earlobe","Uplifted earlobes","Upturned earlobes"],[363]],[9910,"Aplasia of the middle ear ossicles",["Absent middle ear bones","Absent middle ear ossicles"],[4452]],[9911,"Abnormal temporal bone morphology",["Abnormality of the temporal bone"],[929]],[9912,"Abnormal tragus morphology",["Abnormality of the tragus"],[377]],[9913,"Aplasia/Hypoplasia of the tragus",["Absent/small tragus","Absent/underdeveloped tragus"],[9912]],[9914,"Cyclopia",["Cyclops eye","Single central eye"],[100886]],[9915,"Corneal asymmetry",["Asymmetry of the corneas"],[1120]],[9916,"Anisocoria",["Asymmetric pupil sizes","Asymmetry of the pupils","Unequal pupil dilatation","Unequal pupil size"],[615]],[9917,"Persistent pupillary membrane",[],[615]],[9918,"Ectopia pupillae",["Corectopia","Displaced pupil"],[615]],[9919,"Retinoblastoma",["Retina tumor","Retina tumour"],[2898,12777,30063]],[9920,"Nevus of Ota",["Congenital melanosis bulbi","Mongolian spot","Naevus fuscoceruleus ophthalmomaxillaris","Nevus fuscoceruleus ophthalmomaxillaris","Nevus of Ito","Oculodermal melanocytosis"],[3764]],[9921,"Duane anomaly",["Limited eye motility from Duane anomaly","Limited eye movement from Duane anomaly","Globe retraction and deviation on adduction"],[25068]],[9922,"Vascular remnant arising from the disk",["Persistence of the hyaloid artery","Persistent hyaloid artery"],[7968]],[9924,"Aplasia/Hypoplasia involving the nose",["Decreased nasal size","Decreased size of nose","Hypoplasia of the nose","Hypotrophic nose"],[5105]],[9926,"Epiphora",["Increased lacrimation","Increased tears","Tearing","Watery eyes"],[632]],[9927,"Aplasia of the nose",["Absent nose","Arrhinia","Failure of development of nose","Nasal underdevelopment","Underdevelopment of nose","Missing nose"],[9924]],[9928,"Thick nasal alae",["Ala nasi, thick","Thickening of the alae nasi"],[429]],[9929,"Abnormal columella morphology",["Abnormality of the columella","Anomaly of the columella","Deformity of the columella","Malformation of the columella"],[10938]],[9930,"Asymmetry of the nares",["Asymmetry in the implantation of nares","Asymmetry of nostrils","Crooked nostrils","Unequal nostril shape","Unequal nostril size","Uneven nostril shape","Uneven nostril size"],[5288]],[9931,"Enlarged naris",["Broad nostril","Dilated nares","Dilated nostril","Enlarged nares","Enlarged nostril","Increased diameter of nares","Increased diameter of nostril","Increased width of nares","Large nares","Naris, broad","Naris, enlarged","Wide nares","Wide nostril"],[5288]],[9932,"Single naris",["Mono nostril","One nostril","Single nare","Single nostril"],[5288]],[9933,"Narrow naris",["Naris, narrow","Naris, slit-like","Narrow nares","Narrow nostrils","Slit-like nostrils","Small nostrils","Thin nares","Thin nostrils","Collapsed nostrils"],[5288]],[9934,"Supernumerary naris",["Accessory nares","Accessory nostril","Extra nostril","Supernumerary nares","Supernumerary nostrils"],[5288]],[9935,"Aplasia/Hypoplasia of the nasal septum",["Ageneis of nasal septum","Underdevelopment of nasal septum","Failure of development of nasal septum"],[419,9924]],[9936,"Narrow nasal septum",["Decreased width of nasal septum","Narrow septum of nose","Thin nasal septum","Thin septum of nose"],[419]],[9937,"Facial hirsutism",["Excessive face hair"],[9889]],[9938,"Sunken cheeks",["Depressed cheeks","Hollow cheeks"],[4426]],[9939,"Mandibular aplasia",["Agnathia","Absence of lower jaw","Absence of lower jaw bone","Absence of mandible","Absent mandible","Agenesis of the mandible","Aplasia of the lower jaw bone","Failure of development of lower jaw","Failure of development of mandible","Missing lower jaw","Absence of lower jaw bones"],[9118]],[9940,"Asymmetry of the mandible",["Tilted mandible","Asymmetry of lower jaw","Canted lower jaw","Canted mandible","Crooked lower jaw","Deviation of lower jaw","Deviation of mandible","Lower jaw shifted to one side","Tilted lower jaw","Uneven lower jaw","Uneven mandible","Deviation of the lower jaw","Deviation of the mandible"],[277]],[9941,"Asymmetry of the mouth",["Canted mouth","Crooked mouth","Tilted mouth","Uneven mouth","Asymmetry of oral cavity"],[11338]],[9942,"Duplication of thumb phalanx",["Complete/partial duplication of phalanges of the thumb","Duplicated thumbs","Duplication of phalanx of thumb","Duplicated thumb"],[9602,9997]],[9943,"Complete duplication of thumb phalanx",["Complete duplication of the phalanges of the thumb","Complete duplication of thumb bones","Digitalization of thumb","Digitalization of thumbs"],[9942,9998]],[9944,"Partial duplication of thumb phalanx",["Bifid thumb","Notching of thumb phalanges","Partial duplication of the phalanges of the thumb","Partial duplication of the thumb bones"],[9942,9999]],[9945,"Duplication of phalanx of 2nd finger",["Duplication of the bones of index finger","Partial/complete duplication of phalanges of the 2nd finger"],[9541,9946]],[9946,"Polydactyly affecting the 2nd finger",["Extra index finger"],[4100,6159]],[9947,"Duplication of the proximal phalanx of the 2nd finger",["Duplication of the proximal bone of the index finger","Partial/complete duplication of the proximal phalanx of the 2nd finger"],[9544,9945,10006]],[9948,"Duplication of the distal phalanx of the 2nd finger",["Partial/complete duplication of the distal phalanx of the 2nd finger","Partial/complete duplication of the outermost bone of the index finger"],[9542,9883,9945]],[9949,"Duplication of the middle phalanx of the 2nd finger",["Partial/complete duplication of the middle bone of the index finger","Partial/complete duplication of the middle phalanx of the 2nd finger"],[9543,9945,10008]],[9950,"Complete duplication of the distal phalanx of the 2nd finger",["Complete duplication of the outermost bone of the index finger"],[9948,9957,10001]],[9951,"Partial duplication of the distal phalanx of the 2nd finger",["Bifid terminal phalanx of the 2nd finger","Notched outermost bone of the index finger","Partial duplication of the outermost bone of the 2nd finger"],[9948,9956,10004]],[9952,"Complete duplication of the middle phalanx of the 2nd finger",["Complete duplication of the middle bone of the index finger"],[9949,9957,10002]],[9953,"Partial duplication of the middle phalanx of the 2nd finger",["Partial duplication of the middle bone of the index finger"],[9949,9956,10005]],[9954,"Complete duplication of the proximal phalanx of the 2nd finger",["Complete duplication of the proximal bone of the index finger"],[9947,9957,10000]],[9955,"Partial duplication of the proximal phalanx of the 2nd finger",["Partial duplication of the proximal bones of the index finger"],[9947,9956,10003]],[9956,"Partial duplication of the phalanges of the 2nd finger",["Partial duplication of the bones of the index finger"],[9945,9999]],[9957,"Complete duplication of the phalanges of the 2nd finger",["Complete duplication of the bones of the index finger"],[9945,9998]],[9958,"Polydactyly affecting the 3rd finger",["Extra middle finger"],[4150,6159]],[9959,"Duplication of phalanx of 3rd finger",["Duplication of middle finger bone","Partial/complete duplication of phalanges of the 3rd finger"],[9316,9958]],[9960,"Complete duplication of the phalanges of the 3rd finger",["Complete duplication of middle finger bones"],[9959,9998]],[9961,"Partial duplication of the phalanges of the 3rd finger",["Partial duplication of middle finger bones"],[9959,9999]],[9962,"Duplication of the distal phalanx of the 3rd finger",["Partial/complete duplication of the distal phalanx of the 3rd finger","Partial/complete duplication of the outermost bone of the middle finger"],[9357,9883,9959]],[9963,"Duplication of the middle phalanx of the 3rd finger",["Duplication of the middle bone of the middle finger","Partial/complete duplication of the middle phalanx of the 3rd finger"],[4172,9959,10008]],[9964,"Duplication of the proximal phalanx of the 3rd finger",["Duplication of the proximal bone of the middle finger","Partial/complete duplication of the proximal phalanx of the 3rd finger"],[9358,9959,10006]],[9965,"Complete duplication of the distal phalanx of the 3rd finger",["Complete duplication of the outermost bone of the 3rd finger"],[9960,9962,10001]],[9966,"Complete duplication of the middle phalanx of the 3rd finger",["Complete duplication of the middle bone of the middle finger"],[9960,9963,10002]],[9967,"Complete duplication of the proximal phalanx of the 3rd finger",["Complete duplication of the innermost bone of the 3rd finger"],[9960,9964,10000]],[9968,"Partial duplication of the distal phalanx of the 3rd finger",["Bifid terminal phalanx of the 3rd finger","Notched outermost bone of the middle finger","Partial duplication of the outermost bone of the middle finger"],[9961,9962,10004]],[9969,"Partial duplication of the middle phalanx of the 3rd finger",["Partial duplication of the middle bone of the 3rd finger"],[9961,9963,10005]],[9970,"Partial duplication of the proximal phalanx of the 3rd finger",["Partial duplication of the proximal bone of the middle finger"],[9961,9964,10003]],[9971,"Polydactyly affecting the 4th finger",["Extra ring finger"],[4188,6159]],[9972,"Duplication of phalanx of 4th finger",["Duplication of bones of the ring finger","Partial/complete duplication of phalanges of the 4th finger"],[9172,9971]],[9973,"Complete duplication of the phalanges of the 4th finger",["Complete duplication of the bones of the ring finger"],[9972,9998]],[9974,"Partial duplication of the phalanges of the 4th finger",["Partial duplication of the bones of the ring finger"],[9972,9999]],[9975,"Duplication of the distal phalanx of the 4th finger",["Partial/complete duplication of the distal phalanx of the 4th finger","Partial/complete duplication of the outermost bone of the ring finger"],[9282,9883,9972]],[9976,"Duplication of the middle phalanx of the 4th finger",["Partial/complete duplication of the middle bone of the ring finger","Partial/complete duplication of the middle phalanx of the 4th finger"],[9283,9972,10008]],[9977,"Duplication of the proximal phalanx of the 4th finger",["Duplication of the proximal bone of the ring finger","Partial/complete duplication of the proximal phalanx of the 4th finger"],[9284,9972,10006]],[9978,"Complete duplication of the distal phalanx of the 4th finger",["Complete duplication of the outermost bone of the ring finger"],[9973,9975,10001]],[9979,"Complete duplication of the middle phalanx of the 4th finger",["Complete duplication of the middle bone of the ring finger"],[9973,9976,10002]],[9980,"Complete duplication of the proximal phalanx of the 4th finger",["Complete duplication of the proximal bone of the ring finger"],[9973,9977,10000]],[9981,"Partial duplication of the distal phalanx of the 4th finger",["Bifid terminal phalanx of the 4th finger","Notched outermost bone of the ring finger","Partial duplication of the outermost bone of the ring finger"],[9974,9975,10004]],[9982,"Partial duplication of the middle phalanx of the 4th finger",["Partial duplication of the middle bone of the ring finger"],[9974,9976,10005]],[9983,"Partial duplication of the proximal phalanx of the 4th finger",["Partial duplication of the innermost bone of the ring finger"],[9974,9977,10003]],[9985,"Duplication of phalanx of 5th finger",["Partial/complete duplication of little finger bone","Partial/complete duplication of phalanges of the 5th finger","Partial/complete duplication of pinkie finger bone","Partial/complete duplication of pinky finger bone"],[4213,9997]],[9986,"Complete duplication of the phalanges of the 5th finger",["Complete duplication of the little finger bone","Complete duplication of the pinkie finger bone","Complete duplication of the pinky finger bone"],[9985,9998]],[9987,"Partial duplication of the phalanges of the 5th finger",["Partial duplication of the little finger bone","Partial duplication of the pinkie finger bone","Partial duplication of the pinky finger bone"],[9985,9999]],[9988,"Duplication of the distal phalanx of the 5th finger",["Duplication of the outermost little finger bone","Duplication of the outermost pinkie finger bone","Duplication of the outermost pinky finger bone","Partial/complete duplication of the distal phalanx of the 5th finger"],[4225,9883,9985]],[9989,"Duplication of the middle phalanx of the 5th finger",["Duplication of the middle little finger bone","Duplication of the middle pinkie finger bone","Duplication of the middle pinky finger bone","Partial/complete duplication of the middle phalanx of the 5th finger"],[4219,9985,10008]],[9990,"Duplication of the proximal phalanx of the 5th finger",["Duplication of the innermost little finger bone","Duplication of the innermost pinkie finger bone","Duplication of the innermost pinky finger bone","Partial/complete duplication of the proximal phalanx of the 5th finger"],[9150,9985,10006]],[9991,"Complete duplication of the distal phalanx of the 5th finger",["Complete duplication of the outermost little finger bone","Complete duplication of the outermost pinkie finger bone","Complete duplication of the outermost pinky finger bone"],[9986,9988,10001]],[9992,"Complete duplication of the middle phalanx of the 5th finger",["Complete duplication of the middle little finger bone","Complete duplication of the middle pinkie finger bone","Complete duplication of the middle pinky finger bone"],[9986,9989,10002]],[9993,"Complete duplication of the proximal phalanx of the 5th finger",["Complete duplication of the innermost little finger bone","Complete duplication of the innermost pinkie finger bone","Complete duplication of the innermost pinky finger bone"],[9986,9990,10000]],[9994,"Partial duplication of the distal phalanx of the 5th finger",["Bifid terminal phalanx of the 5th finger","Notched outermost pinky finger bone","Partial duplication of outermost little finger bone","Partial duplication of outermost pinkie finger bone","Partial duplication of outermost pinky finger bone"],[9987,9988,10004]],[9995,"Partial duplication of the middle phalanx of the 5th finger",["Partial duplication of the middle little finger bone","Partial duplication of the middle pinkie finger bone","Partial duplication of the middle pinky finger bone"],[9987,9989,10005]],[9996,"Partial duplication of the proximal phalanx of the 5th finger",["Partial duplication of the innermost little finger bone","Partial duplication of the innermost pinkie finger bone","Partial duplication of the innermost pinky finger bone"],[9987,9990,10003]],[9997,"Duplication of phalanx of hand",["Duplication of finger bones"],[4275,5918]],[9998,"Complete duplication of phalanx of hand",["Complete duplication of hand bones"],[9997]],[9999,"Partial duplication of the phalanx of hand",["Partial duplication of hand bones"],[9997]],[10000,"Complete duplication of the proximal phalanges of the hand",["Complete duplication of the innermost bones of the hand"],[9998,10006]],[10001,"Complete duplication of the distal phalanges of the hand",["Complete duplication of the outermost bones of the hand"],[9883,9998]],[10002,"Complete duplication of the middle phalanges of the hand",["Complete duplication of the middle bones of the hand"],[9998,10008]],[10003,"Partial duplication of the proximal phalanges of the hand",["Partial duplication of the innermost bones of the hand"],[9999,10006]],[10004,"Partial duplication of the distal phalanges of the hand",["Bifid terminal phalanges of the hand","Partial duplication of the outermost bone of the hand"],[9883,9999]],[10005,"Partial duplication of the middle phalanges of the hand",["Partial duplication of the middle bones of hand"],[9999,10008]],[10006,"Duplication of the proximal phalanx of hand",["Duplication of the innermost bones of hand","Partial/complete duplication of the proximal phalanges of the hand"],[9997]],[10008,"Duplication of the middle phalanx of hand",["Duplication of the middle bones of hand","Partial/complete duplication of the middle phalanges of the hand"],[9833,9834,9997]],[10009,"Abnormal 1st metacarpal morphology",["Abnormality of the 1st long bone of hand","Abnormality of the 1st metacarpal"],[5916]],[10010,"Abnormal 2nd metacarpal morphology",["Abnormality of the 2nd long bone of hand","Abnormality of the 2nd metacarpal"],[5916]],[10011,"Abnormal 3rd metacarpal morphology",["Abnormality of the 3rd long bone of hand","Abnormality of the 3rd metacarpal"],[5916]],[10012,"Abnormal 4th metacarpal morphology",["Abnormality of the 4th long bone of hand","Abnormality of the 4th metacarpal"],[5916]],[10013,"Abnormal 5th metacarpal morphology",["Abnormality of the 5th long bone of hand","Abnormality of the 5th metacarpal"],[5916]],[10014,"Abnormality of the epiphysis of the 1st metacarpal",["Abnormality of the end part of the 1st long bone of hand"],[5913,10009,10245]],[10015,"Absent epiphysis of the 1st metacarpal",["Absent end part of the 1st long bone of hand"],[9196,10014,10268]],[10016,"Bracket epiphysis of the 1st metacarpal",["Bracket shaped end part of 1st long bone of hand"],[10014,10269,200050]],[10017,"Cone-shaped epiphysis of the 1st metacarpal",["Cone-shaped end part of the 1st long bone of hand"],[6059,10014,10270]],[10018,"Enlarged epiphysis of the 1st metacarpal",["Enlarged end part of the 1st long bone of hand"],[6134,10014,10271]],[10019,"Fragmentation of the epiphysis of the 1st metacarpal",["Fragmentation of the end part of the 1st long bone of hand"],[9189,10014,10272]],[10020,"Irregular epiphysis of the 1st metacarpal",["Irregular end part of the 1st long bone of hand"],[9190,10014,10273]],[10021,"Ivory epiphysis of the 1st metacarpal",["Increased bone density of end part of the 1st long bone of hand"],[9191,10014,10274]],[10022,"Pseudoepiphysis of the 1st metacarpal",[],[9193,10014,10275]],[10023,"Small epiphysis of the 1st metacarpal",["Small end part of the 1st long bone of hand"],[9194,10014,10276]],[10024,"Epiphyseal stippling of the first metacarpal",["Speckled calcifications in the end part of the first long bone of hand","Stippling of the epiphysis of the 1st metacarpal"],[9195,10014,10277]],[10025,"Triangular epiphysis of the 1st metacarpal",["Triangular end part of the 1st long bone of hand"],[9171,9696,10014]],[10026,"Aplasia/Hypoplasia of the 1st metacarpal",["Absent/small 1st long bone of hand","Absent/underdeveloped 1st long bone of hand"],[5914,9658,10009]],[10027,"Broad 1st metacarpal",["Wide 1st long bone of hand"],[1230,9852,10009]],[10028,"Bullet-shaped 1st metacarpal",["Bullet-shaped 1st long bone of hand","Tapered 1st metacarpal"],[10009]],[10029,"Curved 1st metacarpal",["Curved 1st long bone of hand"],[10009]],[10030,"Osteolytic defects of the 1st metacarpal",[],[1504,10009]],[10031,"Patchy sclerosis of the 1st metacarpal",["Uneven increase in bone density in 1st long bone of hand"],[10009,100914]],[10033,"Triangular shaped 1st metacarpal",["Triangular shaped 1st long bone of hand"],[10009]],[10034,"Short 1st metacarpal",["First metacarpal hypoplasia","First metacarpals hypoplastic","Hypoplastic 1st metacarpal","Short first metacarpal","Short first metacarpals","Shortened 1st long bone of hand"],[9660,10026,10049]],[10035,"Aplasia of the 1st metacarpal",["Absent 1st long bone of hand","Absent first metacarpal"],[9659,10026,10048,10242]],[10036,"Aplasia/Hypoplasia of the 2nd metacarpal",["Absent/small 2nd long bone of hand","Absent/underdeveloped 2nd long bone of hand"],[5914,10010]],[10037,"Aplasia of the 2nd metacarpal",["Absent 2nd long bone of hand"],[10036,10048]],[10038,"Short 2nd metacarpal",["Rudimentary 2nd metacarpal","Shortened 2nd long bone of hand","Hypoplastic 2nd metacarpal"],[10036,10049]],[10039,"Aplasia/Hypoplasia of the 3rd metacarpal",["Absent/small 3rd long bone of hand","Absent/underdeveloped 3rd long bone of hand"],[5914,10011]],[10040,"Aplasia of the 3rd metacarpal",["Absent 3rd long bone of hand"],[10039,10048]],[10041,"Short 3rd metacarpal",["Hypoplastic 3rd metacarpal","Short third metacarpals","Shortened 3rd long bone of hand","Small 3rd metacarpals"],[10039,10049]],[10042,"Aplasia/Hypoplasia of the 4th metacarpal",["Absent/small 4th long bone of hand","Absent/underdeveloped 4th long bone of hand"],[5914,10012]],[10043,"Aplasia of the 4th metacarpal",["Absent 4th long bone of hand"],[10042,10048]],[10044,"Short 4th metacarpal",["Hypoplastic fourth metacarpal","Short 4th metacarpals","Short fourth metacarpals","Shortened 4th long bone of hand"],[10042,10049]],[10045,"Aplasia/Hypoplasia of the 5th metacarpal",["Absent/small 5th long bone of hand","Absent/underdeveloped 5th long bone of hand"],[5914,10013]],[10046,"Aplasia of the 5th metacarpal",["Absent 5th long bone of hand","Absent 5th metacarpal"],[10045,10048]],[10047,"Short 5th metacarpal",["Fifth metacarpal hypoplasia","Hypoplastic 5th metacarpal","Short fifth metacarpal","Short fifth metacarpals","Shortened 5th long bone of hand"],[10045,10049]],[10048,"Aplasia of metacarpal bones",["Absent long bone of hand","Absent metacarpal","Absent metacarpals"],[5914]],[10049,"Short metacarpal",["Brachymetacarpalia","Hypoplastic metacarpal","Metacarpal hypoplasia","Short metacarpals","Shortened long bone of hand","Shortened long bones of hand","Shortened metacarpals","Shortening of metacarpals","Short metacarpal bones"],[3026,5914]],[10051,"Deviation of the hallux",["Displacement of big toe","Displacement of the hallux"],[1844,100498]],[10052,"Abnormal morphology of the proximal phalanx of the hallux",["Abnormal innermost big toe bone","Abnormality of the proximal phalanx of the hallux"],[10057,10183]],[10053,"Abnormality of the distal phalanx of the hallux",["Abnormality of the outermost bone of the big toe"],[10057,10182]],[10054,"Abnormality of the first metatarsal bone",["Abnormality of the 1st long bone of foot"],[1832]],[10055,"Broad hallux",["Abnormally broad great toes","Broad big toe","Broad great toe","Broad great toes","Broad halluces","Wide big toe"],[1837,1844]],[10056,"Abnormality of the epiphyses of the hallux",["Abnormality of the end part of the big toe bone"],[1844,10160]],[10057,"Abnormal hallux phalanx morphology",["Abnormal big toe bones","Abnormality of the phalanges of the hallux"],[1844,10161]],[10058,"Aplasia/Hypoplasia of the phalanges of the hallux",["Absent/small big toe bone","Absent/underdeveloped big toe bone"],[8362,10057,10173]],[10059,"Broad hallux phalanx",["Broad bone of big toe","Broad phalanges of the hallux","Wide bone of big toe"],[10057,10174]],[10060,"Bullet-shaped hallux phalanx",["Bullet-shaped bone of big toe","Bullet-shaped phalanges of the hallux"],[10057,10175]],[10061,"Curved hallux phalanx",["Curve bones of big toe","Curved phalanges of the hallux"],[10057,10176]],[10062,"Osteolytic defects of the phalanges of the hallux",[],[10057,10177]],[10063,"Patchy sclerosis of hallux phalanx",["Patchy sclerosis of the phalanges of the hallux","Uneven increase in bone density in big toe bone"],[10057,10178,100930]],[10065,"Triangular shaped phalanges of the hallux",["Triangular shaped bones of big toe"],[10057,10180]],[10066,"Duplication of phalanx of hallux",["Duplicated hallux","Duplication of big toe bone","Duplication of great toes","Duplication of phalanx of big toe","Hallucal duplication","Partial/complete duplication of the phalanges of the hallux"],[10057,10181]],[10067,"Aplasia/hypoplasia of the 1st metatarsal",["Absent/small 1st long bone of foot","Absent/underdeveloped 1st long bone of foot"],[10054]],[10068,"Broad first metatarsal",["Broad 1st metatarsal","Enlarged first metatarsal","Wide 1st long bone of foot"],[1783,10054]],[10069,"Bullet-shaped 1st metatarsal",["Bullet-shaped 1st long bone of foot"],[10054]],[10070,"Curved 1st metatarsal",["Curved 1st long bone of foot"],[10054]],[10071,"Osteolytic defects of the 1st metatarsal",[],[1473,10054,10062]],[10072,"Patchy sclerosis of the 1st metatarsal",["Uneven increase in bone density of the 1st long bone of foot"],[10054,10063,10208,100945]],[10073,"Synostosis involving the 1st metatarsal",["Fusion involving the 1st long bone of foot"],[10054]],[10074,"Triangular shaped 1st metatarsal",["Triangular shaped 1st long bone of foot"],[10054,10065]],[10075,"Duplication of the 1st metatarsal",["Duplicated 1st long bone of foot","Duplicated first metatarsals"],[1449,10054]],[10076,"Aplasia/Hypoplasia of the distal phalanx of the hallux",["Absent/small outermost big toe bone","Absent/underdeveloped outermost big toe bone"],[10053,10058,10185]],[10077,"Broad distal phalanx of the hallux",["Broad outermost bone of big toe","Wide outermost bone of big toe"],[10053,10059,10186]],[10078,"Bullet-shaped distal phalanx of the hallux",["Bullet-shaped outermost bone of big toe"],[10053,10060,10187]],[10079,"Curved distal phalanx of the hallux",["Curved outermost bone of big toe"],[10053,10061,10188]],[10080,"Osteolytic defects of the distal phalanx of the hallux",[],[10053,10062,10189]],[10081,"Patchy sclerosis of the distal phalanx of the hallux",["Uneven increase in bone density in the outermost bone of big toe"],[10063,10190,100944]],[10083,"Triangular shaped distal phalanx of the hallux",["Triangular shaped outermost bone of the big toe"],[10053,10065,10192]],[10084,"Duplication of the distal phalanx of the hallux",["Duplication of the outermost bone of big toe","Partial/complete duplication of the distal phalanx of the hallux"],[10053,10066,10193]],[10085,"Aplasia/Hypoplasia of the proximal phalanx of the hallux",["Absent/small innermost big toe bone","Absent/underdeveloped innermost big toe bone"],[10052,10058,10194]],[10086,"Broad proximal phalanx of the hallux",["Broad innermost bone of the big toe","Broad proximal phalanx of the big toe"],[10052,10059,10204]],[10087,"Bullet-shaped proximal phalanx of the hallux",["Bullet-shaped innermost bone of the big toe"],[10052,10060,10205]],[10088,"Curved proximal phalanx of the hallux",["Curved innermost bone of the big toe"],[10052,10061,10206]],[10089,"Osteolytic defects of the proximal phalanx of the hallux",[],[10052,10062,10198]],[10090,"Patchy sclerosis of the proximal phalanx of the hallux",["Uneven increase in bone density in the innermost bone of the big toe"],[10052,10063,10199,100943]],[10091,"Hallux symphalangism",["Bony fusion of the two phalanges of the hallux (big toe)","Fused innermost bone of big toe","Hallux interphalangeal synostosis"],[10179]],[10092,"Triangular shaped proximal phalanx of the hallux",["Triangular shaped innermost bone of big toe"],[10052,10065,10201]],[10093,"Duplication of the proximal phalanx of the hallux",["Duplication of the innermost bone of big toe"],[10052,10066,10202]],[10094,"Complete duplication of the proximal phalanx of the hallux",["Complete duplication of the innermost bone of big toe"],[10093,10100]],[10095,"Partial duplication of the proximal phalanx of the hallux",["Partial duplication of the innermost bone of big toe"],[10093,10101]],[10096,"Complete duplication of the distal phalanx of the hallux",["Complete duplication of the outermost bone of the big toe"],[10084,10100]],[10097,"Partial duplication of the distal phalanx of the hallux",["Bifid distal phalanx of hallux","Notched outermost bone of big toe","Partial duplication of the outermost bone of big toe"],[10084,10101]],[10098,"Complete duplication of the 1st metatarsal",["Complete duplication of the 1st long bone of foot"],[10075]],[10099,"Partial duplication of the 1st metatarsal",["Partial duplication of the 1st long bone of foot"],[10075,10101]],[10100,"Complete duplication of hallux phalanx",["Complete duplication of big toe bones","Complete duplication of the phalanges of the hallux"],[10066]],[10101,"Partial duplication of the phalanges of the hallux",["Partial duplication of big toe","partial duplication of hallux"],[10066]],[10102,"Aplasia of the distal phalanx of the hallux",["Absent outermost bone of big toe"],[10076,10110,10645]],[10103,"Short distal phalanx of hallux",["Hypoplastic/small distal phalanx of the hallux","Small distal phalanx of big toe","Small distal phalanx of hallux","Small outermost bone of big toe"],[10076,10111]],[10104,"Absent first metatarsal",["Absent 1st long bone of foot","Absent 1st metatarsal","Aplasia of the 1st metatarsal"],[10067,10744]],[10105,"Short first metatarsal",["First metatarsal hypoplasia","First metatarsals hypoplastic","Short 1st long bone of foot"],[10054,10743]],[10106,"Aplasia of the proximal phalanx of the hallux",["Absent innermost bone of big toe"],[10085,10110,100388]],[10107,"Short proximal phalanx of hallux",["Hypoplastic proximal phalanx of the hallux","Short innermost big toe bone","Short proximal phalanges of halluces","Short proximal phalanx of halluces","Small proximal phalanx of big toe","Small proximal phalanx of hallux"],[10085,10111]],[10109,"Short hallux",["Hypoplastic big toes","Hypoplastic hallux","Short big toe","Short halluces","Small hallux"],[1831,8362]],[10110,"Aplasia of the phalanges of the hallux",["Absent bone of big toe"],[10058,10745]],[10111,"Short phalanx of hallux",["Hypoplastic phalanges of the hallux","Short bone of big toe"],[10058,10109,10746]],[10112,"Mesoaxial foot polydactyly",["Central polydactyly of feet"],[1829,100260]],[10113,"Absent hallux epiphysis",["Absent end part of big toe bone","Absent epiphyses of the hallux"],[10056,10162]],[10114,"Bracket epiphyses of the hallux",["Bracket shaped end part of big toe bone"],[10056,10163]],[10115,"Cone-shaped epiphyses of the hallux",["Cone-shaped end part of the big toe bone"],[10056,10164]],[10116,"Enlarged epiphyses of the hallux",["Enlarged end part of the big toe bone"],[10056,10165]],[10117,"Fragmentation of the epiphyses of the hallux",["Fragmentation of the end part of the big toe bone"],[10056,10166]],[10118,"Irregular epiphyses of the hallux",["Irregular end part of big toe bone"],[10056,10167]],[10119,"Ivory epiphyses of the hallux",["Increased bone density of end part of the big toe bone"],[10056,10168]],[10120,"Pseudoepiphyses of the hallux",[],[10056,10169]],[10121,"Small epiphyses of the hallux",["Small end part of the big toe bone"],[10056,10170]],[10122,"Stippling of the epiphyses of the hallux",["Speckled calcifications in the end part of the big toe bone"],[10056,10171]],[10123,"Triangular epiphyses of the hallux",["Triangular end part of the big toe bone"],[10056,10172]],[10124,"Abnormality of the epiphysis of the distal phalanx of the hallux",["Abnormality of the end part of the outermost bone of the big toe bone"],[10056]],[10125,"Abnormality of the epiphysis of the 1st metatarsal",["Abnormality of the end part of the 1st long bone of foot"],[10056]],[10126,"Abnormality of the epiphysis of the proximal phalanx of the hallux",["Abnormality of the end part of the innermost bone of the big toe"],[10056]],[10127,"Absent epiphysis of the proximal phalanx of the hallux",["Absent end part of the innermost bone of the big toe"],[10113,10126]],[10128,"Bracket epiphysis of the proximal phalanx of the hallux",["Bracket shaped end part of the innermost bone of big toe"],[10114,10126]],[10129,"Cone-shaped epiphysis of the proximal phalanx of the hallux",["Cone-shaped end part of the innermost bone of the big toe"],[10115,10126]],[10130,"Enlarged epiphysis of the proximal phalanx of the hallux",["Enlarged end part of the innermost bone of the big toe"],[10116,10126]],[10131,"Fragmentation of the epiphysis of the proximal phalanx of the hallux",["Fragmentation of the end part of the innermost bone of the big toe"],[10117,10126]],[10132,"Irregular epiphysis of the proximal phalanx of the hallux",["Irregular end part of the innermost bone of the big toe"],[10118,10126]],[10133,"Ivory epiphysis of the proximal phalanx of the hallux",["Increased bone density of end part of the innermost bone of the big toe"],[10119,10126]],[10134,"Pseudoepiphysis of the proximal phalanx of the hallux",[],[10120,10126]],[10135,"Small epiphysis of the proximal phalanx of the hallux",["Small end part of the innermost bone of the big toe"],[10121,10126]],[10136,"Stippling of the epiphysis of the proximal phalanx of the hallux",["Speckled calcifications in the end part of the innermost bone of the big toe"],[10122,10126]],[10137,"Triangular epiphysis of the proximal phalanx of the hallux",["Triangular end part of the innermost bone of the big toe"],[10123,10126]],[10138,"Absent epiphysis of the distal phalanx of the hallux",["Absent end part of the outermost bone of the big toe"],[10113,10124]],[10139,"Bracket epiphysis of the distal phalanx of the hallux",["Bracket shaped end part of the outermost bone of big toe"],[10114,10124]],[10140,"Cone-shaped epiphysis of the distal phalanx of the hallux",["Cone-shaped end part of the outermost bone of the big toe"],[10115,10124]],[10141,"Enlarged epiphysis of the distal phalanx of the hallux",["Enlarged end part of the outermost bone of the big toe"],[10116,10124]],[10142,"Fragmentation of the epiphysis of the distal phalanx of the hallux",["Fragmentation of the end part of the outermost bone of the big toe"],[10117,10124]],[10143,"Irregular epiphysis of the distal phalanx of the hallux",["Irregular end part of the outermost bone of the big toe"],[10118,10124]],[10144,"Ivory epiphysis of the distal phalanx of the hallux",["Increased bone density of end part of the outermost bone of the big toe"],[10119,10124]],[10145,"Pseudoepiphysis of the distal phalanx of the hallux",[],[10120,10124]],[10146,"Small epiphysis of the distal phalanx of the hallux",["Small end part of the outermost bone of the big toe"],[10121,10124]],[10147,"Stippling of the epiphysis of the distal phalanx of the hallux",["Speckled calcifications in the end part of the outermost bone of the big toe"],[10122,10124]],[10148,"Triangular epiphysis of the distal phalanx of the hallux",["Triangular end part of the outermost bone of the big toe"],[10123,10124]],[10149,"Absent epiphysis of the 1st metatarsal",["Absent end part of the 1st long bone of foot"],[10125]],[10150,"Bracket epiphysis of the 1st metatarsal",["Bracket shaped end part of 1st long bone of foot"],[10125]],[10151,"Cone-shaped epiphysis of the 1st metatarsal",["Cone-shaped end part of the 1st long bone of foot"],[10054,10125,10630]],[10152,"Enlarged epiphysis of the 1st metatarsal",["Enlarged end part of the 1st long bone of foot"],[10116,10125]],[10153,"Fragmentation of the epiphysis of the 1st metatarsal",["Fragmentation of the end part of the 1st long bone of foot"],[10117,10125]],[10154,"Irregular epiphysis of the 1st metatarsal",["Irregular end part of the 1st long bone of foot"],[10118,10125]],[10155,"Ivory epiphysis of the 1st metatarsal",["Increased bone density of end part of the 1st long bone of foot"],[10119,10125]],[10156,"Pseudoepiphysis of the 1st metatarsal",[],[10125]],[10157,"Small epiphysis of the 1st metatarsal",["Small end part of the 1st long bone of foot"],[10125]],[10158,"Stippling of the epiphysis of the 1st metatarsal",["Speckled calcifications in the end part of the 1st long bone of foot"],[10125]],[10159,"Triangular epiphysis of the 1st metatarsal",["Triangular end part of the 1st long bone of foot"],[10125]],[10160,"Abnormal toe epiphysis morphology",["Abnormality of the end part of the toe bones","Abnormality of the epiphyses of the toes"],[1780,10631]],[10161,"Abnormal toe phalanx morphology",["Abnormality of the long bones of the toes","Abnormality of the phalanges of the toes"],[1780]],[10162,"Absent epiphyses of the toes",["Absent end part of the toe bones"],[10160,10577]],[10163,"Bracket epiphyses of the toes",["Bracket shaped end part of the toe bones"],[10160,10578]],[10164,"Cone-shaped epiphyses of the toes",["Cone-shaped end part of the toe bones"],[10160,34281]],[10165,"Enlarged epiphyses of the toes",["Enlarged end part of the toe bones"],[10160,10580]],[10166,"Fragmentation of the epiphyses of the toes",["Fragmentation of the end part of the toe bones"],[10160,100168]],[10167,"Irregular epiphyses of the toes",["Irregular end part of the toe bones"],[10160,10582]],[10168,"Ivory epiphyses of the toes",["Increased bone density of end part of the toes"],[10160,10583]],[10169,"Pseudoepiphyses of the toes",[],[10160,10584]],[10170,"Small epiphyses of the toes",["Small end part of the toe bones"],[10160,10585]],[10171,"Epiphyseal stippling of toe phalanges",["Speckled calcifications in long toe bones","Stippling of the epiphyses of the toes"],[10160,10655]],[10172,"Triangular epiphyses of the toes",["Triangular end part of the toe bones"],[10160,10587]],[10173,"Aplasia/Hypoplasia of the phalanges of the toes",["Absent/small toe bones","Absent/underdeveloped toe bones"],[6494,10161]],[10174,"Broad phalanx of the toes",["Wide toe bones"],[6009,10161,40069]],[10175,"Bullet-shaped toe phalanx",["Bullet-shaped phalanges of the toes","Bullet-shaped toe bone"],[10161]],[10176,"Curved toe phalanx",["Curved phalanges of the toes","Curved toe bone"],[10161]],[10177,"Osteolytic defects of the phalanges of the toes",[],[9134,10161]],[10178,"Patchy sclerosis of toe phalanx",["Patchy sclerosis of the phalanges of the toes","Uneven increase in bone density in toe bone"],[5686,100924]],[10179,"Toe symphalangism",["Fused toe bones"],[10161,100235]],[10180,"Triangular shaped phalanges of the toes",["Triangular shaped toe bones"],[10161]],[10181,"Duplication of phalanx of toe",["Duplicated toe bone","Partial/complete duplication of the phalanges of the toes"],[10161]],[10182,"Abnormal distal toe phalanx morphology",["Abnormality of the outermost bone of the toes"],[10161]],[10183,"Abnormality of the middle phalanges of the toes",["Abnormal middle bones of toe"],[10161]],[10184,"Abnormality of toe proximal phalanx",["Abnormal innermost toe bone","Abnormality of the proximal phalanges of the toes"],[10161]],[10185,"Aplasia/Hypoplasia of the distal phalanges of the toes",["Absent/hypoplastic terminal phalanges of toes","Absent/small outermost bones of toe","Absent/underdeveloped outermost bones of toe","Hypoplasia/agenesis of distal phalanges of toes"],[10173,10182,10760]],[10186,"Broad distal phalanx of the toes",["Broad outermost bone of the toe","Wide outermost bone of the toe"],[10174,10182]],[10187,"Bullet-shaped distal toe phalanx",["Bullet-shaped distal phalanges of the toes","Bullet-shaped outermost bone of the toe"],[10175,10182]],[10188,"Curved distal toe phalanx",["Curved distal phalanges of the toes","Curved outermost bone of the toe"],[10176,10182]],[10189,"Osteolytic defects of the distal phalanges of the toes",[],[10177,10182]],[10190,"Patchy sclerosis of distal toe phalanx",["Patchy sclerosis of the distal phalanges of the toes","Uneven increase in bone density in outermost toe bone"],[10178,100948]],[10192,"Triangular shaped distal phalanges of the toes",["Triangular shaped outermost bone of the toes"],[10180,10182]],[10193,"Duplication of distal phalanx of toe",["Duplication of outermost bone of toe","Partial/complete duplication of the distal phalanges of the toes"],[10182]],[10194,"Aplasia/Hypoplasia of the middle phalanges of the toes",["Absent/small middle bones of toe","Absent/underdeveloped middle bones of toe"],[10173,10183]],[10195,"Broad middle phalanges of the toes",["Broad middle bones of the toes"],[10174,10183]],[10196,"Bullet-shaped middle phalanx of toe",["Bullet-shaped middle bones of the toes","Bullet-shaped middle phalanges of the toes"],[10175,10183]],[10197,"Curved middle phalanx of toe",["Curved middle bones of the toes","Curved middle phalanges of the toes"],[10176,10183]],[10198,"Osteolytic defects of the middle phalanges of the toes",[],[10177,10183]],[10199,"Patchy sclerosis of middle phalanx of toe",["Patchy sclerosis of the middle phalanges of the toes","Uneven increase in bone density in middle toe bone"],[10178,100947]],[10200,"Proximal toe symphalangism",["Fused middle bones of toes"],[10179,100264]],[10201,"Triangular shaped middle phalanges of the toes",["Triangular shaped middle bones of toes"],[10180,10183]],[10202,"Duplication of middle phalanx of toe",["Partial/complete duplication of the middle bones of the toes","Partial/complete duplication of the middle phalanges of the toes"],[10183]],[10203,"Aplasia/hypoplasia of proximal toe phalanx",["Absent/small innermost toe bones","Absent/underdeveloped innermost toe bones","Aplasia/Hypoplasia of the proximal phalanges of the toes"],[10173,10184]],[10204,"Broad proximal phalanx of toe",["Broad innermost toe bone"],[10174,10184]],[10205,"Bullet-shaped proximal toe phalanx",["Bullet-shaped innermost toe bone","Bullet-shaped proximal phalanges of the toes","Bullet-shaped proximal phalanges of toe"],[10175,10184]],[10206,"Curved proximal toe phalanx",["Curved innermost toe bones","Curved proximal phalanges of the toes"],[10176,10184]],[10207,"Osteolytic defect of the proximal toe phalanx",["Osteolytic defects of the proximal phalanges of the toes"],[10177,10184]],[10208,"Patchy sclerosis of proximal toe phalanx",["Patchy sclerosis of the proximal phalanges of the toes","Uneven increase in bone density in innermost toe bone"],[10178,100946]],[10210,"Triangular shaped proximal phalanges of the toes",["Triangular shaped innermost toe bones"],[10180,10184]],[10211,"Duplication of proximal phalanx of toe",["Duplication of innermost toe bones","Partial/complete duplication of the proximal phalanges of the toes"],[10184]],[10212,"Flexion contracture of the hallux",["Joint contracture of the big toe","Joint contracture of the hallux"],[1844,5830]],[10213,"Contracture of the tarsometatarsal joint of the hallux",[],[10212]],[10214,"Contracture of the interphalangeal joint of the hallux",[],[10212]],[10215,"Contractures of the metatarsophalangeal joint of the hallux",[],[10212]],[10219,"Structural foot deformity",[],[1760]],[10220,"Abnormality of the epiphysis of the 2nd metacarpal",["Abnormality of the end part of the 2nd long bone of hand"],[10010]],[10222,"Abnormal 3rd metacarpal epiphysis morphology",["Abnormality of the end part of the 3rd long bone of hand","Abnormality of the epiphysis of the 3rd metacarpal"],[10011]],[10223,"Pseudoepiphysis of the 3rd metacarpal",[],[9193,10222]],[10224,"Abnormal 4th metacarpal epiphysis morphology",["Abnormality of the end part of the 4th long bone of hand","Abnormality of the epiphysis of the 4th metacarpal"],[10012]],[10225,"Pseudoepiphysis of the 4th metacarpal",[],[9193,10224]],[10226,"Abnormal 5th metacarpal epiphysis morphology",["Abnormality of the end part of the long bone of little finger","Abnormality of the end part of the long bone of pinkie finger","Abnormality of the end part of the long bone of pinky finger","Abnormality of the epiphysis of the 5th metacarpal"],[10013]],[10227,"Pseudoepiphysis of the 5th metacarpal",[],[9193,10226]],[10228,"Absent epiphyses of the phalanges of the hand",["Absent end part of fingers","Absent epiphyses of the fingers"],[5920,10577]],[10229,"Bracket epiphyses of the phalanges of the hand",["Bracket epiphyses of the fingers","Bracket shaped end part of finger bones"],[5920,10578]],[10230,"Cone-shaped epiphyses of the phalanges of the hand",["Cone-shaped end part of finger bones","Cone-shaped epiphyses of hand","Cone-shaped epiphyses of the fingers","Coned epiphyses of hands","Conical phalangeal epiphyses"],[5920,34281]],[10231,"Enlarged epiphyses of the phalanges of the hand",["Enlarged end part of finger bones","Enlarged epiphyses of the fingers","Enlarged phalangeal epiphyses"],[5920,10580]],[10232,"Fragmented finger phalanx epiphysis",["Fragmentation of end part of finger bones","Fragmentation of the epiphyses of the fingers","Fragmentation of the epiphyses of the phalanges of the hand"],[3841,5920]],[10233,"Irregular epiphyses of the phalanges of the hand",["Irregular end part of finger bones","Irregular epiphyses of the fingers"],[3842,5920]],[10234,"Ivory epiphyses of the phalanges of the hand",["Increased bone density of end part of the hand bones","Ivory epiphyses of the fingers","Sclerotic ivory phalangeal epiphyses"],[5920,10583,100899]],[10235,"Pseudoepiphyses of the phalanges of the hand",["Pseudoepiphysis of the fingers"],[4288,5920]],[10236,"Small epiphyses of the phalanges of the hand",["Small end part of finger bones","Small epiphyses of the fingers"],[5920,10585]],[10237,"Epiphyseal stippling of finger phalanges",["Speckled calcifications in end part of finger bones","Stippling of the epiphyses of the fingers","Stippling of the epiphyses of the phalanges of the hand"],[5920,10655,10660]],[10238,"Triangular epiphyses of the phalanges of the hand",["Delta-shaped epiphyses of the fingers","Triangular end part of finger bones","Triangular epiphyses of the fingers"],[5920,10587]],[10239,"Aplasia of the middle phalanx of the hand",["Absent middle bones of hand","Absent middle phalanges","Missing middle phalanges"],[9380,9802,9843]],[10241,"Short proximal phalanx of finger",["Hypoplasia of the proximal phalanges of the hand","Short innermost finger bones","Short proximal phalanges","Shortening in proximal phalanges"],[9381,9803,9851]],[10242,"Aplasia of the proximal phalanges of the hand",["Absent innermost bones","Absent proximal phalanges"],[9380,9802,9851]],[10243,"Abnormality of the epiphyses of the distal phalanx of finger",["Abnormality of the end part of the outermost bone of finger"],[5920,9832]],[10244,"Abnormality of the epiphyses of the middle phalanges of the hand",["Abnormality of the end part of the middle hand bones"],[5920,9833]],[10245,"Abnormality of the epiphyses of the proximal phalanges of the hand",["Abnormality of the end part of the innermost hand bones"],[5920,9834]],[10246,"Absent epiphyses of the distal phalanges of the hand",["Absent end part of the outermost hand bones"],[10228,10243]],[10247,"Bracket epiphyses of the distal phalanges of the hand",["Bracket shaped end part of the outermost hand bones"],[10229,10243]],[10248,"Cone-shaped epiphyses of the distal phalanges of the hand",["Cone-shaped end part of the outermost hand bones"],[10230,10243]],[10249,"Enlarged epiphyses of the distal phalanges of the hand",["Enlarged end part of the outermost hand bones"],[10231,10243]],[10250,"Fragmentation of the epiphyses of the distal phalanges of the hand",["Fragmentation of the end part of the outermost hand bones"],[10232,10243]],[10251,"Irregular epiphyses of the distal phalanges of the hand",["Irregular end part of the outermost hand bones"],[10233,10243]],[10252,"Ivory epiphyses of the distal phalanges of the hand",["Eburnated epiphyses of distal phalanges","Increased bone density of end part of the outermost hand bones"],[10234,10243,100915]],[10253,"Pseudoepiphyses of the distal phalanges of the hand",[],[10235,10243]],[10254,"Small epiphyses of the distal phalanges of the hand",["Small end part of the outermost hand bones"],[10236,10243]],[10255,"Stippling of the epiphyses of the distal phalanges of the hand",["Speckled calcifications in the end part of the outermost hand bones"],[10237,10243]],[10256,"Triangular epiphyses of the distal phalanges of the hand",["Triangular end part of the outermost hand bones"],[10238,10243]],[10257,"Absent epiphyses of the middle phalanges of the hand",["Absent end part of the middle hand bones"],[10228,10244]],[10258,"Bracket epiphyses of the middle phalanges of the hand",["Bracket shaped end part of the middle hand bones"],[10229,10244]],[10259,"Cone-shaped epiphyses of the middle phalanges of the hand",["Cone-shaped end part of the middle hand bones","Cone-shaped epiphyses of middle phalanges"],[10230,10244]],[10260,"Enlarged epiphyses of the middle phalanges of the hand",["Enlarged end part of the middle hand bones"],[10231,10244]],[10261,"Fragmentation of the epiphyses of the middle phalanges of the hand",["Fragmentation of the end part of the middle hand bones"],[10232,10244]],[10262,"Irregular epiphyses of the middle phalanges of the hand",["Irregular end part of middle hand bones"],[10233,10244]],[10263,"Ivory epiphyses of the middle phalanges of the hand",["Increased bone density of end part of the middle hand bones"],[10234,10244,100916]],[10264,"Pseudoepiphyses of the middle phalanges of the hand",[],[10235,10244]],[10265,"Small epiphyses of the middle phalanges of the hand",["Small end part of the middle hand bones"],[10236,10244]],[10266,"Stippling of the epiphyses of the middle phalanges of the hand",["Speckled calcifications in the end part of the middle hand bones"],[10237,10244]],[10267,"Triangular epiphyses of the middle phalanges of the hand",["Triangular end part of the middle hand bones"],[10238,10244]],[10268,"Absent epiphyses of the proximal phalanges of the hand",["Absent end part of the innermost hand bones"],[10228,10245]],[10269,"Bracket epiphyses of the proximal phalanges of the hand",["Bracket shaped end part of the innermost hand bones"],[10229,10245]],[10270,"Cone-shaped epiphyses of the proximal phalanges of the hand",["Cone-shaped end part of the innermost hand bones"],[10230,10245]],[10271,"Enlarged epiphyses of the proximal phalanges of the hand",["Enlarged end part of the innermost hand bones"],[10231,10245]],[10272,"Fragmentation of the epiphyses of the proximal phalanges of the hand",["Fragmentation of the end part of the innermost hand bones"],[10232,10245]],[10273,"Irregular epiphyses of the proximal phalanges of the hand",["Irregular end part of the innermost hand bones"],[10233,10245]],[10274,"Ivory epiphyses of the proximal phalanges of the hand",["Increased bone density of end part of the innermost hand bones"],[10234,10245,100917]],[10275,"Pseudoepiphyses of the proximal phalanges of the hand",[],[10235,10245]],[10276,"Small epiphyses of the proximal phalanges of the hand",["Small end part of the innermost hand bones"],[10236,10245]],[10277,"Stippling of the epiphyses of the proximal phalanges of the hand",["Speckled calcifications in the end part of the innermost hand bones"],[10237,10245]],[10278,"Triangular epiphyses of the proximal phalanges of the hand",["Triangular end part of the innermost hand bones"],[10238,10245]],[10280,"Stomatitis",["Inflammation of the mouth","Gingivostomatitis"],[11830,12649]],[10281,"Cleft lower lip",["Cleft of the lower lip","Lower labial cleft"],[178,410030]],[10282,"Thin lower lip vermilion",["Decreased height of lower lip vermilion","Decreased volume of lower lip","Decreased volume of lower lip vermilion","Thin lower lip","Thin vermilion border of lower lip","Thin red part of the lower lip"],[178,233]],[10284,"Intra-oral hyperpigmentation",["Hyperpigmentation of oral mucosa","Oral mucosa melanin pigmentation","Oral racial pigmentation","Dark color of gums","Dark colour of gums","Gingival hyperpigmentation","Gingival melanin pigmentation","Pigmented gums"],[100669]],[10285,"Oral synechia",["Oral fibrous bands","Synechiae of the mouth"],[11830]],[10286,"Abnormal salivary gland morphology",["Abnormality of the salivary glands","Salivary gland disease"],[163]],[10287,"Abnormality of the submandibular glands",["Abnormality of the submaxillary glands"],[10286]],[10288,"Abnormality of the sublingual glands",[],[10286]],[10289,"Cleft maxillary alveolar ridge",["Alveolar cleft","Alveolar ridge cleft","Cleft anterior maxilla","Cleft maxillary alveolus","Cleft of alveolar ridge of maxilla","Cleft of gum ridge","Notch of alveolar ridge","Notch of gum ridge","Cleft of alveolar process","Notch of alveolar process"],[202]],[10290,"Short hard palate",["Decreased length of hard palate","Hypoplastic palate","Short palate"],[100737]],[10291,"Prominent palatine ridges",["Large lateral palatal folds","Large lateral palatal ridges","Prominent lateral palatal folds","Prominent lateral palatal ridges","Prominent palatine folds"],[174]],[10292,"Absent uvula",["Absent palatine uvula","Congenital absence of uvula","Missing uvula","Uvula aplasia","Agenesis of uvula"],[10293]],[10293,"Aplasia/Hypoplasia of the uvula",["Aplasia/hypoplasia of palatine uvula"],[172]],[10294,"Palate fistula",["Hole in roof of mouth","Palatal hole","Palatal perforation"],[174]],[10295,"Aplasia/Hypoplasia of the tongue",["Lingual aplasia/hypoplasia"],[30809]],[10296,"Ankyloglossia",["Tongue tied","Tongue tie"],[190,30809]],[10297,"Bifid tongue",["Bifurcated tongue","Bilobed tongue","Cleft tongue","Forked tongue","Split tongue","Snake tongue"],[30809]],[10298,"Smooth tongue",["Smooth lingual surface","Smooth surface of tongue","Smooth dorsum of tongue","Atrophy of dorsum of tongue","Atrophy of lingual surface","Atrophy of tongue surface"],[30809]],[10299,"Abnormal dentin morphology",["Abnormal dentin","Abnormality of dentin","Abnormality of dentine","Dentin anomaly"],[11061]],[10300,"Abnormally low-pitched voice",["Low pitched voice","Low-pitched voice"],[5200005]],[10301,"Spinal dysraphism",["Incomplete closure of the vertebral arch"],[2143,45005]],[10302,"Spinal cord tumor",["Spinal cord tumour","Tumor of the spinal cord","Tumour of the spinal cord","Spinal tumor","Spinal tumors","Spinal tumour","Spinal tumours"],[2143,100006]],[10303,"Abnormal spinal meningeal morphology",["Abnormality of the spinal meninges"],[2143,10651]],[10304,"Spinal meningeal diverticulum",["Spinal meningeal diverticula"],[10303]],[10305,"Absence of the sacrum",["Sacrococcygeal agenesis","Absent sacrum","Sacral agenesis"],[8517]],[10306,"Short thorax",["Shorter than typical length between neck and abdomen"],[765]],[10307,"Stridor",["Noisy breathing"],[30829]],[10308,"Asternia",["Aplasia of the sternum","Breast bone aplasia"],[6714]],[10309,"Bifid sternum",["Sternal cleft"],[766]],[10310,"Chylothorax",[],[2202]],[10311,"Aplasia/Hypoplasia of the breasts",["Absent/small breasts","Absent/underdeveloped breasts"],[31093]],[10312,"Asymmetry of the breasts",[],[31093]],[10313,"Breast hypertrophy",["Breast enlargement","Breasts enlarged","Gigantomastia","Hypertrophy of the breasts","Large breast","Macromastia"],[31093]],[10314,"Premature thelarche",["Premature breast development"],[826]],[10315,"Aplasia/Hypoplasia of the diaphragm",["Absent/small diaprhagm","Absent/underdeveloped diaprhagm"],[775]],[10316,"Ebstein anomaly of the tricuspid valve",["Ebstein's anomaly","Ebstein's anomaly of the tricuspid valve","Ebstein's malformation"],[1702]],[10317,"Scapular aplasia",["Absent scapula","Absent shoulder blade"],[6713]],[10318,"Aplasia/Hypoplasia of the abdominal wall musculature",["Absent/small abdominal wall muscles","Absent/underdeveloped abdominal wall muscles"],[10991]],[10319,"Abnormal second toe morphology",["Abnormal 2nd toe morphology","Abnormality of the 2nd toe"],[1780]],[10320,"Abnormal third toe morphology",["Abnormal 3rd toe morphology","Abnormality of the 3rd toe"],[1780]],[10321,"Abnormal fourth toe morphology",["Abnormal 4th toe morphology","Abnormality of the 4th toe"],[1780]],[10322,"Abnormal fifth toe morphology",["Abnormal 5th toe morphology","Abnormality of the 5th toe","Abnormality of the little toe","Abnormality of the pinkie toe","Abnormality of the pinky toe"],[1780]],[10323,"Abnormality of the epiphyses of the 2nd toe",["Abnormality of the end part of the 2nd toe bone"],[10160,10319]],[10324,"Abnormal 2nd toe phalanx morphology",["Abnormal morphology of phalanx of the 2nd toe","Abnormality of the 2nd toe bone"],[10161,10319]],[10325,"Aplasia/Hypoplasia of the 2nd toe",["Absent/small 2nd toe","Absent/underdeveloped 2nd toe"],[10319,10760]],[10326,"Deviation of the 2nd toe",["Displacement of the 2nd toe"],[10319,100498]],[10327,"Flexion contracture of the 2nd toe",["Joint contractures of the 2nd toe"],[5830,10319]],[10328,"Polydactyly affecting the 2nd toe",[],[10112,10319]],[10329,"Abnormality of the epiphyses of the 3rd toe",["Abnormality of the end part of the 3rd toe bone"],[10160,10320]],[10330,"Abnormality of the phalanges of the 3rd toe",["Abnormality of the bones of the 3rd toe"],[10161,10320]],[10331,"Aplasia/Hypoplasia of the 3rd toe",["Absent/hypoplastic third toe","Absent/small 3rd toe","Absent/underdeveloped 3rd toe"],[10320,10760]],[10332,"Deviation of the 3rd toe",["Displacement of the 3rd toe"],[10320,100498]],[10333,"Flexion contracture of 3rd toe",["Joint contractures of the 3rd toe"],[5830,10320]],[10334,"Polydactyly affecting the 3rd toe",[],[10112,10320]],[10335,"Abnormality of the epiphyses of the 4th toe",["Abnormality of the end part of the 4th toe bone"],[10160,10321]],[10336,"Abnormality of the phalanges of the 4th toe",[],[10161,10321]],[10337,"Aplasia/Hypoplasia of the 4th toe",["Absent/small 4th toe","Absent/underdeveloped 4th toe"],[10321,10760]],[10338,"Deviation of the 4th toe",["Displacement of the 4th toe"],[10321,100498]],[10339,"Flexion contracture of the 4th toe",["Joint contractures of the 4th toe"],[5830,10321]],[10340,"Polydactyly affecting the 4th toe",[],[10112,10321]],[10341,"Abnormality of the epiphyses of the 5th toe",["Abnormality of the end part of the little toe bone","Abnormality of the end part of the pinkie toe bone","Abnormality of the end part of the pinky toe bone"],[10160,10322]],[10342,"Abnormality of the phalanges of the 5th toe",["Abnormality of the little toe bones","Abnormality of the pinkie toe bones","Abnormality of the pinky toe bones"],[10161,10322]],[10343,"Aplasia/Hypoplasia of the 5th toe",["Absent/small little toe","Absent/small pinkie toe","Absent/small pinky toe","Absent/underdeveloped pinky toe"],[10322,10760]],[10344,"Deviation of the 5th toe",["Displacement of the 5th toe","Displacement of the little toe","Displacement of the pinkie toe","Displacement of the pinky toe"],[10322,100498]],[10345,"Flexion contracture of the 5th toe",["Joint contractures of the 5th toe"],[5830,10322]],[10347,"Aplasia/Hypoplasia of the phalanges of the 2nd toe",["Absent/small bones of 2nd toe","Absent/underdeveloped bones of 2nd toe"],[10173,10324]],[10348,"Broad phalanges of the 2nd toe",["Broad bones of the 2nd toe"],[10174,10324]],[10349,"Bullet-shaped 2nd toe phalanx",["Bullet-shaped bones of the 2nd toe","Bullet-shaped phalanges of the 2nd toe"],[10175,10324]],[10350,"Curved 2nd toe phalanx",["Curved bones of the 2nd toe","Curved phalanges of the 2nd toe"],[10176,10324]],[10351,"Osteolytic defects of the phalanges of the 2nd toe",[],[10177,10324]],[10352,"Patchy sclerosis of 2nd toe phalanx",["Patchy sclerosis of the phalanges of the 2nd toe","Uneven increase in bone density in 2nd toe bone"],[10178,10324,100926]],[10353,"Second toe symphalangism",["2nd toe symphalangism","Fused bones of 2nd toe","Symphalangism affecting the phalanges of the 2nd toe"],[10179,10324]],[10354,"Triangular shaped phalanges of the 2nd toe",["Triangular shaped bone of 2nd toe","Triangular shaped bone of second toe"],[10180,10324]],[10355,"Duplication of the phalanges of the 2nd toe",["Duplication of the bones of the 2nd toe","Partial/complete duplication of the phalanges of the 2nd toe"],[10181,10324]],[10356,"Abnormality of the distal phalanx of the 2nd toe",["Abnormality of the outermost bone of the 2nd toe"],[10182,10324]],[10357,"Abnormality of the middle phalanx of the 2nd toe",["Abnormality of the middle bone of the 2nd toe"],[10183,10324]],[10358,"Abnormal morphology of the proximal phalanx of the 2nd toe",["Abnormality of the innermost bone of the 2nd toe"],[10184,10324]],[10359,"Aplasia/Hypoplasia of the phalanges of the 3rd toe",["Absent/small bones of 3rd toe","Absent/underdeveloped bones of 3rd toe"],[10173,10330]],[10360,"Broad phalanges of the 3rd toe",["Wide bones of 3rd toe"],[10174,10330]],[10361,"Bullet-shaped 3rd toe phalanx",["Bullet-shaped bones of 3rd toe","Bullet-shaped phalanges of the 3rd toe"],[10175,10330]],[10362,"Curved 3rd toe phalanx",["Curved bones of 3rd toe","Curved phalanges of the 3rd toe"],[10176,10330]],[10363,"Osteolytic defects of the phalanges of the 3rd toe",[],[10177,10330]],[10364,"Patchy sclerosis of 3rd toe phalanx",["Patchy sclerosis of the phalanges of the 3rd toe","Uneven increase in bone density in 3rd toe bone"],[10178,10330,100927]],[10365,"Third toe symphalangism",["Fused bones of 3rd toe"],[10179,10330]],[10366,"Triangular shaped phalanges of the 3rd toe",["Triangular shaped 3rd toe bones"],[10180,10330]],[10367,"Duplication of phalanx of the 3rd toe",["Duplication of 3rd toe bone","Duplication of phalanx of the third toe","Partial/complete duplication of the phalanges of the 3rd toe"],[10181,10330]],[10368,"Abnormality of the distal phalanx of the 3rd toe",["Abnormality of the outermost bone of the 3rd toe"],[10182,10330]],[10369,"Abnormality of the middle phalanx of the 3rd toe",["Abnormality of the middle bone of 3rd toe"],[10183,10330]],[10370,"Abnormal morphology of the proximal phalanx of the 3rd toe",["Abnormality of the innermost bone of 3rd toe"],[10184,10330]],[10371,"Aplasia/Hypoplasia of the phalanges of the 4th toe",["Absent/small bones of 4th toe","Absent/underdeveloped bones of 4th toe"],[10173,10336]],[10372,"Broad phalanges of the 4th toe",["Broad bones of the 4th toe"],[10174,10336]],[10373,"Bullet-shaped 4th toe phalanx",["Bullet-shaped bones of the 4th toe","Bullet-shaped phalanges of the 4th toe"],[10175,10336]],[10374,"Curved 4th toe phalanx",["Curved bones of 4th toe","Curved phalanges of the 4th toe"],[10176,10336]],[10375,"Osteolytic defects of the phalanges of the 4th toe",[],[10177,10336]],[10376,"Patchy sclerosis of 4th toe phalanx",["Patchy sclerosis of the phalanges of the 4th toe","Uneven increase in bone density in 4th toe bone"],[10178,10336,100928]],[10377,"Fourth toe symphalangism",["Fused bones of 4th toe"],[10179,10336]],[10378,"Triangular shaped phalanges of the 4th toe",["Triangular shaped bones of 4th toe"],[10180,10336]],[10379,"Duplication of phalanx of the 4th toe",["Duplication of 4th toe bone","Duplication of phalanx of the fourth toe","Partial/complete duplication of the phalanges of the 4th toe"],[10181,10336]],[10380,"Abnormality of the distal phalanx of the 4th toe",["Abnormality of the outermost 4th toe bone"],[10182,10336]],[10381,"Abnormality of the middle phalanx of the 4th toe",["Abnormality of middle 4th toe bone"],[10183]],[10382,"Abnormal morphology of the proximal phalanx of the 4th toe",["Abnormal innermost 4th toe bone"],[10184,10336]],[10383,"Aplasia/Hypoplasia of the phalanges of the 5th toe",["Absent/small little toe bones","Absent/small pinkie toe bones","Absent/small pinky toe bones","Absent/underdeveloped pinky toe bones"],[10173,10342]],[10384,"Broad phalanges of the 5th toe",["Broad bones of the little toe","Broad bones of the pinkie toe","Broad bones of the pinky toe"],[10174,10342]],[10385,"Bullet-shaped 5th toe phalanx",["Bullet-shaped bones of the little toe","Bullet-shaped bones of the pinkie toe","Bullet-shaped bones of the pinky toe","Bullet-shaped phalanges of the 5th toe"],[10175,10342]],[10386,"Curved 5th toe phalanx",["Curved little toe bones","Curved phalanges of the 5th toe","Curved pinkie toe bones","Curved pinky toe bones"],[10176,10342]],[10387,"Osteolytic defects of the phalanges of the 5th toe",[],[10177,10342]],[10388,"Patchy sclerosis of 5th toe phalanx",["Patchy sclerosis of the phalanges of the 5th toe","Uneven increase in bone density in little toe bone","Uneven increase in bone density in pinkie toe bone","Uneven increase in bone density in pinky toe bone"],[10178,10342,100929]],[10389,"Fifth toe symphalangism",["Fused bones in the little toe","Fused bones in the pinkie toe","Fused bones in the pinky toe"],[10179,10342]],[10390,"Triangular shaped phalanges of the 5th toe",["Triangular shaped little toe bone","Triangular shaped pinkie toe bone","Triangular shaped pinky toe bone"],[10180,10342]],[10391,"Duplication of the phalanges of the 5th toe",["Duplication of the bones of the little toe","Duplication of the bones of the pinkie toe","Duplication of the bones of the pinky toe","Duplication of the phalanges of the fifth toe","Partial/complete duplication of the phalanges of the 5th toe"],[10181,10342]],[10392,"Abnormality of the distal phalanx of the 5th toe",["Abnormality of the outermost bone of the little toe","Abnormality of the outermost bone of the pinkie toe","Abnormality of the outermost bone of the pinky toe"],[10182]],[10393,"Abnormality of the middle phalanx of the 5th toe",["Abnormality of the middle bone of the little toe","Abnormality of the middle bone of the pinkie toe","Abnormality of the middle bone of the pinky toe"],[10183,10342]],[10394,"Abnormal morphology of the proximal phalanx of the 5th toe",["Abnormality of the innermost bone of the little toe","Abnormality of the innermost bone of the pinkie toe","Abnormality of the innermost bone of the pinky toe"],[10184,10342]],[10395,"Aplasia/hypoplasia of the proximal phalanx of the 2nd toe",["Absent/small innermost 2nd toe bone","Absent/underdeveloped innermost 2nd toe bone"],[10203,10325,10347,10358]],[10396,"Broad proximal phalanx of the 2nd toe",["Broad innermost bone of 2nd toe"],[10204,10348,10358]],[10397,"Bullet-shaped proximal phalanx of the 2nd toe",["Bullet-shaped innermost bone of 2nd toe"],[10205,10349,10358]],[10398,"Curved proximal phalanx of the 2nd toe",["Curved innermost bone of 2nd toe"],[10206,10350,10358]],[10399,"Osteolytic defects of the proximal phalanx of the 2nd toe",[],[10351,10358]],[10400,"Patchy sclerosis of the proximal phalanx of the 2nd toe",["Uneven increase in bone density in the innermost bone of the 2nd toe"],[10208,10352,10358,100931]],[10401,"Proximal 2nd toe symphalangism",["Fused innermost bone of the 2nd toe"],[10200,10353,10358]],[10402,"Triangular shaped proximal phalanx of the 2nd toe",["Triangular shaped innermost 2nd toe bone"],[10354,10358]],[10403,"Duplication of the proximal phalanx of the 2nd toe",["Duplication of innermost 2nd toe bone","Duplication of the proximal phalanx of the second toe","Partial/complete duplication of the proximal phalanx of the 2nd toe"],[10355,10358]],[10404,"Aplasia/Hypoplasia of the middle phalanx of the 2nd toe",["Absent/small middle bone of 2nd toe","Absent/underdeveloped middle bone of 2nd toe"],[10194,10325,10347,10357]],[10405,"Broad middle phalanx of the 2nd toe",["Broad middle bone of 2nd toe"],[10195,10348,10357]],[10406,"Bullet-shaped middle phalanx of the 2nd toe",["Bullet-shaped middle bone of 2nd toe"],[10349,10357]],[10407,"Curved middle phalanx of the 2nd toe",["Curved middle bone of 2nd toe"],[10197,10350,10357]],[10408,"Osteolytic defects of the middle phalanx of the 2nd toe",[],[10351,10357]],[10409,"Patchy sclerosis of the middle phalanx of the 2nd toe",["Uneven increase in bone density in the middle bone of the 2nd toe"],[10199,10352,10357,100935]],[10411,"Triangular shaped middle phalanx of the 2nd toe",["Triangular shaped middle bone of 2nd toe"],[10354,10357]],[10412,"Duplication of the middle phalanx of the 2nd toe",["Duplication of middle bone of 2nd toe","Partial/complete duplication of the middle phalanx of the 2nd toe"],[10355,10357]],[10413,"Aplasia/Hypoplasia of the distal phalanx of the 2nd toe",["Absent/small outermost 2nd toe bone","Absent/underdeveloped outermost 2nd toe bone"],[10185,10325,10347,10356]],[10414,"Broad distal phalanx of the 2nd toe",["Broad outermost bone of the 2nd toe","Wide outermost bone of the 2nd toe"],[10186,10348,10356]],[10415,"Bullet-shaped distal phalanx of the 2nd toe",["Bullet-shaped outermost bone of the 2nd toe"],[10349,10356]],[10416,"Curved distal phalanx of the 2nd toe",["Curved outermost bone of the 2nd toe"],[10188,10350,10356]],[10417,"Osteolytic defects of the distal phalanx of the 2nd toe",[],[10351,10356]],[10418,"Patchy sclerosis of the distal phalanx of the 2nd toe",["Uneven increase in bone density in the outermost bone of the 2nd toe"],[10190,10352,100939]],[10419,"Distal 2nd toe symphalangism",["Fused outermost bone of the 2nd toe"],[1859,10353,10356]],[10420,"Triangular shaped distal phalanx of the 2nd toe",["Triangular shaped outermost 2nd toe bone"],[10354,10356]],[10421,"Duplication of the distal phalanx of the 2nd toe",["Duplication of the outermost bone of the 2nd toe","Partial/complete duplication of the distal phalanx of the 2nd toe"],[10193,10355,10356]],[10422,"Complete duplication of the proximal phalanx of the 2nd toe",["Complete duplication of the innermost 2nd toe bone","Complete duplication of the proximal phalanx of the second toe"],[10403,10429]],[10423,"Partial duplication of the proximal phalanx of the 2nd toe",["Partial duplication of the innermost 2nd toe bone","Partial duplication of the proximal phalanx of the second toe"],[10403,10428]],[10424,"Complete duplication of the distal phalanx of the 2nd toe",["Complete duplication of the outermost bone of the 2nd toe"],[10421,10429]],[10425,"Partial duplication of the distal phalanx of the 2nd toe",["Partial duplication of the outermost bone of the 2nd toe"],[10421,10428]],[10426,"Complete duplication of the middle phalanx of the 2nd toe",["Complete duplication of the middle bone of the 2nd toe"],[10412,10429]],[10427,"Partial duplication of the middle phalanx of the 2nd toe",["Partial duplication of the middle bone of the 2nd toe"],[10412,10428]],[10428,"Partial duplication of phalanx of the 2nd toe",["Partial duplication of 2nd toe bone"],[10355]],[10429,"Complete duplication of the phalanges of the 2nd toe",["Complete duplication of the 2nd toe bones"],[10355]],[10430,"Aplasia of the phalanges of the 2nd toe",["Absent 2nd toe bones"],[10325,10347,10745]],[10431,"Short phalanx of the 2nd toe",["Hypoplastic/small phalanges of the 2nd toe","Short 2nd toe bone","Short phalanx of the second toe"],[10325,10347,10746]],[10432,"Absent distal phalanx of the 2nd toe",["Absent distal phalanx of the second toe","Absent outermost bone of the 2nd toe","Aplasia of the distal phalanx of the 2nd toe"],[10413,10430,10645]],[10433,"Short distal phalanx of the 2nd toe",["Hypoplastic/small distal phalanx of the 2nd toe","Short distal phalanx of the second toe","Short outermost bone of the 2nd toe"],[10413,10431]],[10434,"Aplasia of the middle phalanx of the 2nd toe",["Absent middle bone of 2nd toe"],[10404,10430,100388]],[10435,"Short middle phalanx of the 2nd toe",["Hypoplastic/small middle phalanx of the 2nd toe","Short middle 2nd toe bone","Short middle phalanx of the second toe"],[10404,10431]],[10436,"Aplasia of the proximal phalanx of the 2nd toe",["Absent innermost 2nd toe bone"],[10395,10430]],[10437,"Short proximal phalanx of the 2nd toe",["Hypoplastic/small proximal phalanx of the 2nd toe","Short innermost 2nd toe bone","Short proximal phalanx of the second toe"],[10395,10431]],[10438,"Abnormal ventricular septum morphology",["Abnormal interventricular septum morphology","Abnormality of the ventricular septum","Ventricular septum abnormality"],[1671,1713]],[10440,"Ectopic accessory toe-like appendage",[],[1829]],[10441,"Ectopic accessory finger-like appendage",[],[1161]],[10442,"Polydactyly",["More than five fingers or toes on hands or feet"],[11297]],[10443,"Bifid femur",["Notched thighbone","Split thighbone"],[2823]],[10444,"Pulmonic regurgitation",["Pulmonary incompetence","Pulmonary valve insufficiency","Pulmonary valve regurgitation","Puolmonary valve insufficiency"],[31654]],[10445,"Primum atrial septal defect",["Atrial septal defect, primum type","Ostium primum atrial septal defect","Primum atrioventricular canal defect","Septum primum defect","ostium primum ASD"],[1631]],[10446,"Tricuspid stenosis",[],[31651]],[10447,"Anal fistula",["Fistula in ano"],[34915,100819]],[10448,"Colonic atresia",["Atresia of the large intestine","Large intestinal atresia"],[2250,11100]],[10450,"Esophageal stenosis",["Narrowing of the esophagus","Narrowing of the oesophagus"],[2031]],[10451,"Aplasia/Hypoplasia of the spleen",["Absent/small spleen","Absent/underdeveloped spleen"],[25408]],[10452,"Ectopia of the spleen",["Abnormal spleen location","Ectopic spleen"],[25408]],[10453,"Pelvic bone asymmetry",["Pelvic asymmetry","Asymmetric pelvis"],[40163]],[10454,"Acetabular spurs",[],[3170]],[10455,"Steep acetabular roof",[],[3170]],[10456,"Abnormal greater sciatic notch morphology",["Abnormality of greater sciatic notch","Abnormality of the greater sacrosciatic notch","Abnormality of the sacroiliac notch"],[2644]],[10458,"Female pseudohermaphroditism",[],[55]],[10459,"True hermaphroditism",["Testicular and ovarian tissue present"],[62]],[10460,"Abnormality of the female genitalia",[],[12243]],[10461,"Abnormality of the male genitalia",["Abnormal male genitals"],[12243]],[10462,"Aplasia/Hypoplasia of the ovary",["Absent/small ovary","Absent/underdeveloped ovary"],[31065]],[10463,"Aplasia of the ovary",["Absent ovary","Aplasia of the ovaries","Bilateral absent ovaries"],[10462]],[10464,"Streak ovary",[],[8724]],[10465,"Precocious puberty in females",[],[826]],[10468,"Aplasia/Hypoplasia of the testes",["Absent/small testes","Absent/underdeveloped testes"],[45058]],[10469,"Absent testis",["Absence of palpable testicules","Absent testes","Aplasia of the testes"],[10468]],[10470,"Supernumerary testes",["Extra testes","Polyorchidism"],[35]],[10471,"Oligosacchariduria",[],[31979]],[10472,"Abnormal circulating porphyrin concentration",["Abnormal porphyrins level"],[4364]],[10473,"Porphyrinuria",[],[33354]],[10474,"Bladder stones",["Cystolithiasis"],[25487]],[10475,"Cloacal exstrophy",[],[12620,100548]],[10476,"Aplasia/Hypoplasia of the bladder",["Absent/small bladder","Absent/underdeveloped bladder"],[25487]],[10477,"Aplasia of the bladder",["Absent bladder"],[10476]],[10478,"Abnormality of the urachus",[],[25487]],[10479,"Patent urachus",["Persistent urachus"],[10478]],[10480,"Urethral fistula",[],[795,100589]],[10481,"Urethral valve",[],[796]],[10482,"Acromelia of the upper limbs",[],[10884]],[10483,"Amniotic constriction rings of arms",[],[2817,9775]],[10484,"Hypertrophy of the upper limb",["Increased size of upper limb"],[2817]],[10485,"Hyperextensibility at elbow",[],[430046]],[10486,"Abnormality of the hypothenar eminence",[],[1421]],[10487,"Small hypothenar eminence",["Hypoplasia of the hypothenar eminence","Hypothenar hypoplasia"],[10486]],[10488,"Aplasia/Hypoplasia of the palmar creases",["Absent/small palm crease","Absent/underdeveloped palm crease"],[10490]],[10489,"Absent palmar crease",["Absence of the palmar creases","Absent palm lines","Aplasia of the palmar creases"],[10488]],[10490,"Abnormal palmar crease morphology",["Abnormality of the palm lines","Abnormality of the palmar creases"],[1018]],[10491,"Digital constriction ring",["Amniotic constriction rings of digits"],[9775]],[10492,"Osseous finger syndactyly",["Osseous syndactyly of the fingers"],[6101]],[10493,"Long metacarpals",["Elongated long bone of hand","Increased length of metacarpals"],[5916]],[10494,"Acromelia of the lower limbs",[],[6493,10884]],[10495,"Amniotic constriction rings of legs",[],[2814,9775]],[10496,"Hypertrophy of the lower limb",[],[2814]],[10497,"Sirenomelia",["Sympodia"],[2814]],[10498,"Bipartite patella",[],[3045]],[10499,"Patellar subluxation",["Partial knee cap dislocation","Subluxation of patella"],[3045]],[10500,"Hyperextensibility of the knee",[],[34670]],[10501,"Limitation of knee mobility",["Limited knee movement"],[1376,34670]],[10502,"Fibular bowing",["Bowed calf bone"],[2979,2991]],[10503,"Fibular duplication",["Duplicated calf bone"],[2991]],[10504,"Increased length of the tibia",["Increased length of shankbone","Increased length of shinbone"],[2992]],[10505,"Limitation of movement at ankles",[],[1376,34674]],[10506,"Abnormal plantar dermatoglyphics",["Abnormal dermatoglyphics on feet","Abnormal prints on feet"],[7477,100872]],[10507,"Foot asymmetry",[],[1760]],[10508,"Metatarsus valgus",[],[1832]],[10509,"Aplasia of the tarsal bones",["Absent ankle bone","Absent tarsals"],[8363]],[10510,"Hypermobility of toe joints",[],[1780]],[10511,"Long toe",["Increased length of toes","Long toes"],[1780]],[10512,"Adrenal calcification",[],[10766,11732]],[10513,"Pituitary calcification",[],[11747,430048]],[10514,"Hyperpituitarism",[],[11747]],[10515,"Aplasia/Hypoplasia of the thymus",["Absent/small thymus","Absent/underdeveloped thymus","Thymic hypoplasia or aplasia"],[777]],[10516,"Thymus hyperplasia",["Enlarged thymus","Thymic hyperplasia"],[777]],[10517,"Ectopic thymus tissue",["Abnormal thymus position"],[777]],[10518,"Thyroglossal cyst",["Thyroglossal duct cyst"],[11772]],[10519,"Increased fetal movement",["Fetal hyperkinesia","Foetal hyperkinesia","Increased foetal movement"],[1557]],[10521,"Gait apraxia",[],[1288,2186]],[10522,"Dyslexia",["Reading disability"],[1328]],[10523,"Alexia",["Text blindness","Word blindness"],[2167]],[10524,"Disturbed sensory perception",["Agnosia"],[5200204]],[10525,"Finger agnosia",[],[10524]],[10526,"Dysgraphia",["Agraphia"],[2167]],[10527,"Astereognosis",["Somatosensory agnosia"],[5200406]],[10528,"Prosopagnosia",["Face blindness","Facial agnosia"],[10524]],[10529,"Echolalia",["Echoing another person's speech","Echologia","Echophrasia","Repeated speech"],[4000074]],[10530,"Palatal tremor",["Palatal myoclonus"],[1336]],[10531,"Spinal myoclonus",[],[1336]],[10532,"Paroxysmal vertigo",[],[2321]],[10533,"Spasmus nutans",[],[12043]],[10534,"Transient global amnesia",[],[2354]],[10535,"Sleep apnea",["Pauses in breathing while sleeping","Sleep apnoea"],[5200283]],[10536,"Central sleep apnea",["Central sleep apnoea"],[10535]],[10537,"Wide cranial sutures",["Broad cranial sutures","Diastasis of cranial sutures","Large cranial suture","Persistent open cranial sutures","Sutural diastasis","Widened cranial sutures","open cranial sutures"],[11329]],[10538,"Small sella turcica",["Hypoplasia of sella turcica","Hypoplasia of hypophseal fossa","Hypoplasia of pituitary fossa","Small hypophyseal fossa","Small pituitary fossa"],[2679]],[10539,"Thin calvarium",["Thin skull bone","Thin cranial bone"],[2683]],[10540,"Advanced pneumatization of cranial sinuses",[],[245]],[10541,"Cutis gyrata of scalp",["Scalp folds","Scalp furrows","Cutis verticis gyrata","Furrows in thickened skin on top of scalp","Scalp rugae","Thickened folds on top of scalp","Thickening of the scalp"],[1965,11356]],[10542,"Vestibular nystagmus",[],[639,31910]],[10543,"Opsoclonus",[],[12547,32104]],[10544,"Vertical nystagmus",[],[639]],[10545,"Downbeat nystagmus",[],[10544]],[10546,"Muscle fibrillation",["EMG: fibrillations on electromyogram","Twitching"],[100022]],[10547,"Muscle flaccidity",[],[1324]],[10548,"Percussion myotonia",["Transient swelling of muscle induced by percussion"],[2486]],[10549,"Weakness due to upper motor neuron dysfunction",["Paralysis due to lesions of the principle motor tracts"],[2493]],[10550,"Paraplegia",["Leg paralysis"],[10551]],[10551,"Paraplegia/paraparesis",[],[10549]],[10553,"Oculogyric crisis",[],[1332]],[10554,"Cutaneous finger syndactyly",["Cutaneous syndactyly of fingers","Cutaneous syndactyly of hands","Webbed fingers","Webbed skin of fingers"],[6101,12725]],[10557,"Overlapping fingers",[],[4097]],[10558,"Abnormal clivus morphology",["Abnormality of the clivus"],[932]],[10559,"Vertical clivus",[],[10558]],[10560,"Undulate clavicle",["Undulate clavicles","Wavy clavicles","Wavy collarbone"],[889]],[10561,"Undulate ribs",["Wavy ribs"],[772]],[10562,"Keloids",[],[987]],[10564,"Bifid epiglottis",[],[5483]],[10565,"Aplasia/Hypoplasia of the Epiglottis",[],[5483]],[10566,"Hamartoma",[],[11792]],[10567,"Y-shaped metatarsals",["Y-shaped long bone of foot"],[1832]],[10568,"Hamartoma of the eye",[],[30670,100012]],[10569,"Elevated circulating 7-dehydrocholesterol concentration",["Elevated 7-dehydrocholesterol concentration","Elevated 7-dehydrocholesterol level","Elevated 7-dehydrocholesterol level in blood","Elevated levels of cholesta-5,7-dien-3beta-ol","Increased 7-dehydrocholesterol concentration","Increased 7-dehydrocholesterol level","Increased 7-dehydrocholesterol level in blood"],[34934]],[10570,"Low maternal circulating alpha-fetoprotein concentration",["Low maternal serum alpha-fetoprotein"],[11436]],[10571,"Elevated circulating phytanic acid concentration",["Elevated level of phytanic acid","Elevated levels of phytanic acid"],[10965]],[10574,"Abnormality of the epiphysis of the femoral head",["Abnormality of the end part of the innermost thighbone","Abnormality of the proximal femoral epiphysis"],[3368,6499]],[10575,"Dysplasia of the femoral head",["Abnormality of femoral head development","Dysplastic femoral head"],[3368]],[10576,"Intracranial cystic lesion",["Cerebral cystic malformation"],[30724]],[10577,"Absent epiphyses",["Absent end part of bone"],[5930]],[10578,"Bracket epiphyses",["Bracket shaped end part of long bone"],[5930]],[10579,"Cone-shaped epiphysis",["Cone-shaped end part of bone","Cone-shaped epiphyses","Coned epiphyses"],[5930]],[10580,"Enlarged epiphyses",["Large end part of bone","Large epiphyses","Widened, distorted epiphyses"],[5930]],[10582,"Irregular epiphyses",["Irregular end part of long bone"],[5930]],[10583,"Ivory epiphyses",["Epiphyseal sclerosis","Increased bone density in end part of bone"],[5930]],[10584,"Pseudoepiphyses",[],[5930]],[10585,"Small epiphyses",["Small end part of bone"],[5930]],[10587,"Triangular epiphysis",["Longitudinal epiphyseal bracket","Triangular end part of bone","Triangular epiphyses"],[5930]],[10588,"Premature epimetaphyseal fusion",["Premature closure of epiphyses"],[5930]],[10590,"Abnormality of the distal femoral epiphysis",["Abnormality of the end part of the outermost thighbone"],[6499]],[10591,"Abnormality of the proximal tibial epiphysis",["Abnormality of the end part of innermost shankbone","Abnormality of the end part of innermost shinbone"],[6508]],[10592,"Abnormality of the distal tibial epiphysis",["Abnormality of the end part of outermost shankbone","Abnormality of the end part of outermost shinbone"],[6508]],[10593,"Abnormal fibular epiphysis morphology",["Abnormality of fibular epiphyses","Abnormality of the end part of the calf bone"],[6500]],[10594,"Abnormality of the proximal fibular epiphysis",["Abnormality of the innermost end part of calf bone"],[10593]],[10595,"Abnormality of the distal fibular epiphysis",["Abnormality of the outermost end part of calf bone"],[10593]],[10596,"Abnormal proximal radial epiphysis morphology",["Abnormality of the proximal radial epiphysis"],[3946,3999]],[10597,"Abnormality of the distal radial epiphysis",[],[3999]],[10598,"Abnormality of the proximal humeral epiphysis",["Abnormality of the end part of the innermost long bone in upper arm"],[3891]],[10599,"Abnormal distal humeral epiphysis morphology",["Abnormality of the distal humeral epiphysis","Abnormality of the end part of the outermost long bone in upper arm"],[3891,3946]],[10600,"Abnormal distal ulnar epiphysis morphology",["Abnormality of the distal ulnar epiphysis"],[4037]],[10601,"Abnormal proximal ulnar epiphysis morphology",["Abnormality of the proximal ulnar epiphysis"],[3946,4037]],[10602,"Type 2 muscle fiber predominance",["Type 2 muscle fibre predominance","Type II muscle fiber predominance","Type II muscle fibre predominance"],[33684]],[10603,"Odontogenic keratocysts of the jaw",["Keratocystic odontogenic tumor","Keratocystic odontogenic tumour","Keratocysts of the jaw"],[100612]],[10604,"Cyst of the eyelid",["Lesion of the eyelid","Eyelid bump","Eyelid mass"],[10732,200040]],[10605,"Chalazion",["Meibomian gland lipogranuloma"],[10604]],[10606,"Hordeolum",["Stye of eyelid","Red bump on eyelid"],[10732]],[10607,"Hordeolum externum",[],[10606]],[10608,"Hordeolum internum",["Stye of inner eyelid","Red bump on inner eyelid"],[10606]],[10609,"Skin tags",["Acrochorda"],[11355]],[10610,"Palmar pits",[],[40211,100276]],[10612,"Plantar pits",[],[100276,100872]],[10614,"Fibroma",[],[12316,30448]],[10615,"Angiofibromas",[],[10614]],[10616,"Lung fibroma",[],[10614,100526]],[10617,"Cardiac fibroma",[],[10614,100544]],[10618,"Ovarian fibroma",[],[10614,100615]],[10619,"Fibroadenoma of the breast",["Breast fibroadenoma","Breast fibroadenomas","Breast fibroadenosis","Fibroadenosis - breast","Fibroadenosis of breast"],[10614,100013]],[10620,"Malar prominence",["Malar excess","Malar hyperplasia","Prominent malar region","Hyperplasia of malar bones"],[10668]],[10621,"Cutaneous syndactyly of toes",["Cutaneous syndactyly of feet","Webbed skin of toes","soft tissue syndactyly of toes"],[1770,12725]],[10622,"Neoplasm of the skeletal system",["Skeletal tumor","Skeletal tumour","Neoplasia of the skeletal system","Bone neoplasm"],[11793,11842]],[10624,"Aplastic/hypoplastic toenail",["Absent/small toenails","Absent/underdeveloped toenails","Aplastic/hypoplastic toenails","Hypoplastic-absent toenails"],[8386,8388]],[10625,"Anterior pituitary dysgenesis",["Adenohypophysis"],[11747]],[10626,"Anterior pituitary agenesis",["Absent pituitary gland","Aplasia of the pituitary gland"],[10625]],[10627,"Anterior pituitary hypoplasia",["Hypoplastic adenohypophysis","Small anterior pituitary lobe","Underdeveloped pituitary gland","Hypoplasia of the pituitary gland"],[10625]],[10628,"Facial palsy",["Bell's palsy","Cranial nerve VII palsy","Facial nerve palsy","Facial nerve paralysis","Facial palsy, unilateral or bilateral","Seventh cranial nerve palsy","VII th cranial nerve palsy","Facial muscle weakness of muscles innervated by CN VII"],[1324,6824,10827,30319]],[10629,"Abnormal morphology of the cortex of the humerus",[],[3103,31095]],[10630,"Abnormal metatarsal epiphysis morphology",["Abnormality of end part of long bone of foot","Abnormality of metatarsal epiphysis","Abnormality of the epiphyses of the metatarsals"],[1832,10631]],[10631,"Abnormality of the epiphyses of the feet",["Abnormality of the end part of the foot bone"],[6500]],[10632,"Total anosmia",[],[458]],[10633,"Partial anosmia",[],[458]],[10634,"Total hyposmia",[],[4409]],[10635,"Partial hyposmia",[],[4409]],[10636,"Schizencephaly",[],[2060]],[10637,"Conjunctival amyloidosis",[],[502,20015]],[10638,"Elevated alkaline phosphatase of hepatic origin",["Elevated ALP of hepatic origin"],[10679]],[10639,"Elevated alkaline phosphatase of bone origin",["Elevated ALP of bone origin","Increased serum bone-specific alkaline phosphatase"],[10679]],[10640,"Abnormal nasal cavity morphology",["Abnormality of the nasal cavity"],[5105]],[10641,"Abnormality of the midnasal cavity",[],[10640]],[10643,"Midnasal atresia",[],[10644]],[10644,"Midnasal stenosis",["Midnasal atresia or stenosis"],[10641]],[10645,"Aplasia of the distal phalanges of the toes",["Absent outermost bone of the toes"],[10185,10745]],[10646,"Cervical spine instability",[],[3319]],[10647,"Abnormal elasticity of skin",[],[11121]],[10648,"Dermal translucency",["Translucent skin"],[11121]],[10649,"Flat nasal alae",["Depressed nasal alae","Flat nasal alar cartilage"],[429]],[10650,"Hypoplasia of the premaxilla",["Decreased size of premaxilla","Decreased size of the primary palate bone","Hypoplasia of the intermaxillary bone","Hypoplasia of the primary palate bone","Premaxillary bone deficiency","Premaxillary underdevelopment","Primary palate bone deficiency","Small premaxilla","Small primary palate bone","Underdevelopment of premaxilla","Underdevelopment of the premaxilla","Underdevelopment of the primary palate bone","Premaxillary bone retrusion","Premaxillary retrusion","Primary palate bone retrusion"],[2692,10756]],[10651,"Abnormal meningeal morphology",["Abnormality of the meninges"],[2011]],[10652,"Abnormal dura mater morphology",["Abnormality of the dura mater"],[10651]],[10653,"Abnormality of the falx cerebri",["Abnormality of the cerebral falx"],[10652]],[10654,"Aplasia of the falx cerebri",["Absent cerebral falx"],[10653]],[10655,"Epiphyseal stippling",["Epiphyseal punctate calcifications","Speckled calcifications in end part of bone","Stippled epiphyses","Stippling of the epiphyses"],[5930,10656,10766]],[10656,"Abnormal epiphyseal ossification",["Abnormality of the mineralisation or ossification of the epiphyses","Abnormal maturation of the end part of a bone"],[3336]],[10657,"Patchy reduction of bone mineral density",[],[2797,4349,10658]],[10658,"Patchy changes of bone mineral density",[],[4348]],[10659,"Patchy variation in bone mineral density",["Patchy increased and decreased bone mineral density"],[4349,10658]],[10660,"Abnormal hand bone ossification",["Abnormal ossification of hand bones","Abnormality of the mineralisation and ossification of bones of the hand","Abnormal maturation of the hand bones"],[3336,5922]],[10661,"Absence of the third cerebral ventricle",[],[10951]],[10662,"Abnormal diencephalon morphology",["Abnormality of the diencephalon"],[100547]],[10663,"Abnormal thalamus morphology",["Abnormal shape of thalamus","Abnormality of thalamus morphology","Abnormality of the thalamus"],[10662]],[10664,"Fusion of the left and right thalami",["Fused thalami","Undivided thalami","Fusion of thamali"],[10663]],[10665,"Bilateral coxa valga",[],[2673]],[10666,"Hypoplasia of the anterior nasal spine",["Decreased projection of anterior nasal spine","Decreased size of anterior nasal spine","Small anterior nasal spine","Underdevelopment of anterior nasal spine","Decreased length of anterior nasal spine","Deficiency of anterior nasal spine","Hypotrophic anterior nasal spine"],[327]],[10667,"Aplasia of the maxilla",["Failure of development of upper jaw bones","Absence of the maxilla","Absence of upper jaw bones","Agenesis of the maxilla","Aplasia of the upper jaw bones","Failure of development of maxilla","Missing upper jaw bones"],[326,40008]],[10668,"Abnormal zygomatic bone morphology",["Abnormal malar bone morphology","Abnormality of the cheekbone","Abnormality of the zygomatic bone","Anomaly of the zygomatic bone","Deformity of the cheekbone","Deformity of the zygomatic bone","Malformation of the zygomatic bone"],[309,11821]],[10669,"Hypoplasia of the zygomatic bone",["Depressed cheekbone","Depressed zygomatic bone","Flattening of the zygomatic bone","Small cheekbone","Small malar bone","Small zygomatic bone","Cheekbone underdevelopment","Decreased size of cheekbone","Decreased size of zygomatic bone","Hypoplasia of cheekbone","Underdevelopment of cheekbone","Underdevelopment of zygomatic bone","Hypotrophic cheekbone","Hypotrophic zygomatic bone","Hypotrophy of the cheekbone","Hypotrophy of the zygomatic bone"],[2692,10668]],[10672,"Abnormality of the third metatarsal bone",["Abnormality of the 3rd long bone of foot"],[1832]],[10674,"Abnormal curvature of the vertebral column",["Abnormal curve of the backbone","Abnormal curve of the spine","Abnormal curving of the spine","Abnormality of the curvature of the vertebral column","Curvature of spine","Curved spine"],[925]],[10675,"Abnormal foot bone ossification",["Abnormality of the mineralisation and ossification of bones of the feet","Abnormal maturation of foot bones","Abnormal ossification involving bones of the feet"],[1760,3336]],[10676,"Mechanical ileus",[],[2595]],[10677,"Enuresis nocturna",["Nocturnal enuresis"],[805]],[10678,"Enuresis diurna",[],[805]],[10679,"Elevated tissue non-specific alkaline phosphatase",["Elevated alkaline phosphatase, liver/bone/kidney","Elevated tissue non-specific ALP"],[3155]],[10680,"Elevated alkaline phosphatase of renal origin",["Elevated ALP of renal origin"],[10679,12211]],[10681,"Elevated intestinal alkaline phosphatase",["Elevated intestinal ALP"],[3155]],[10682,"Elevated placental alkaline phosphatase",["Elevated placental ALP"],[3155]],[10683,"Low tissue non-specific alkaline phosphatase",["Low tissue non-specific ALP"],[3282]],[10684,"Low alkaline phosphatase of bone origin",["Low ALP of bone origin"],[3282]],[10685,"Low alkaline phosphatase of renal origin",["Low ALP of renal origin"],[3282,12211]],[10686,"Low alkaline phosphatase of hepatic origin",["Low ALP of hepatic origin"],[3282]],[10687,"Low intestinal alkaline phosphatase",["Low intestinal ALP"],[3282]],[10688,"Low placental alkaline phosphatase",["Low placental ALP"],[3282]],[10689,"Mirror image polydactyly",["Mirror image duplication of digits"],[10442]],[10690,"Mirror image hand polydactyly",["Mirror image duplication of fingers"],[1161,10689]],[10691,"Mirror image foot polydactyly",["Mirror image duplication of toes"],[1829,10689]],[10693,"Pulverulent cataract",[],[7648]],[10694,"Lamellar pulverulent cataract",[],[7971]],[10695,"Sutural cataract",[],[10920]],[10696,"Polar cataract",[],[518]],[10697,"Anterior pyramidal cataract",["Pyramidal cataract"],[1134]],[10698,"Nuclear pulverulent cataract",["Central pulverulent cataract","Coppock-like cataract","Pulverulent nuclear cataract","cataracta pulverulenta centralis"],[10693,10925]],[10699,"Triangular nuclear cataract",[],[100018]],[10701,"Abnormal circulating immunoglobulin concentration",["Abnormal immunoglobulin concentration","Abnormal immunoglobulin level","Abnormal serum immunoglobulin concentration","Abnormal serum immunoglobulin levels","Abnormal serum level of immunoglobulin","Immunoglobulin abnormality"],[5368,5372]],[10702,"Increased circulating immunoglobulin concentration",["Elevated immunoglobulin levels","Hypergammaglobulinaemia","Hypergammaglobulinemia","Increased antibody level in blood","Increased circulating antibody concentration","Increased circulating antibody level","Increased gamma globulin","Increased immunoglobulin level","Increased serum gamma globulin","Raised immunoglobulin levels"],[10701]],[10704,"1-2 finger cutaneous syndactyly",["Webbed 1st-2nd finger","Webbed thumb and index finger"],[10554]],[10705,"4-5 finger cutaneous syndactyly",["Webbed 4th-5th finger"],[10554]],[10706,"1-3 finger cutaneous syndactyly",["Webbed 1st-3rd finger"],[10554]],[10707,"1-4 finger cutaneous syndactyly",["Webbed 1st-4th finger"],[10554]],[10708,"1-5 finger cutaneous syndactyly",["Webbed 1-5 fingers","Webbed 1st-5th fingers"],[10554]],[10709,"2-4 finger cutaneous syndactyly",["Syndactyly of second to fourth fingers","Webbed index through ring fingers"],[10554]],[10710,"3-5 finger syndactyly",["Webbed third, fourth and fifth toes"],[10492]],[10711,"1-2 toe syndactyly",["Webbed 1st-2nd toes","Webbed first and second toes"],[1770]],[10712,"1-4 toe syndactyly",["Webbed first through fourth toes"],[1770]],[10713,"1-5 toe syndactyly",["Syndactyly of all toes","Webbed 1st-5th toes"],[1770]],[10714,"2-4 toe syndactyly",["Syndactyly of toes 2, 3 and 4","Syndactyly toes 2-4","Webbed 2nd-4th toes"],[1770]],[10715,"2-5 toe syndactyly",["Webbed 2nd-5th toes"],[1770]],[10716,"3-5 toe syndactyly",["Webbed 3rd-5th toes"],[1770]],[10717,"Osseous syndactyly of toes",["Osseous syndactyly of the toes"],[1770,100235]],[10719,"Abnormality of hair texture",["Abnormality of hair consistency","Abnormality of hair curl pattern","Abnormality of hair volume"],[1595]],[10720,"Abnormal hair pattern",["Abnormal distribution of hair"],[1595]],[10721,"Abnormal hair whorl",["Abnormal hair whorls","Abnormal whorl of hair"],[11361]],[10722,"Asymmetry of the ears",["Asymmetric ears"],[357]],[10723,"Cystic lesions of the pinnae",[],[377]],[10724,"Advanced pneumatization of the mastoid process",[],[264]],[10726,"Prominent corneal nerve fibers",["Myelinated corneal nerves","Peripheral corneal nerve myelination","Peripheral myelinating corneal nerve fibers","Prominent corneal nerve fibres","Visible corneal nerve fibers","Visible corneal nerve fibres"],[11492]],[10727,"Spontaneous rupture of the globe",[],[12372]],[10728,"Aplasia of the retina",["Absent retina"],[8061]],[10729,"Cherry red spot of the macula",["Macular cherry red spot"],[630,1103]],[10730,"Double eyebrow",["Duplication of eyebrow"],[534]],[10731,"Extension of eyebrows towards upper eyelid",[],[11229]],[10732,"Nodular changes affecting the eyelids",["Eyelid nodules"],[492,200036]],[10733,"Naevus flammeus of the eyelid",["Port-wine stain on eyelid"],[1052]],[10734,"Fibrous dysplasia of bone",["Fibrous dysplasia of the bones","Osteitis fibrosa disseminata"],[3330]],[10735,"Polyostotic fibrous dysplasia",[],[10734]],[10736,"Monostotic fibrous dysplasia",[],[10734]],[10739,"Osteopoikilosis",[],[11001]],[10740,"Osteopathia striata",[],[31367]],[10741,"Pedal edema",["Edema of the lower limbs","Fluid accumulation in lower limbs","Leg edema","Leg oedema","Lower leg swelling","Oedema of the lower limbs","Pedal oedema","Peripheral edema of lower extremity","Peripheral oedema of lower extremity","Dependant edema","Dependant oedema"],[969,2814]],[10742,"Edema of the upper limbs",["Fluid accumulation in upper limbs","Oedema of the upper limbs"],[969,2817]],[10743,"Short metatarsal",["Hypoplasia of the metatarsal bones","Hypoplastic metatarsals","Short long bone of foot","Short metatarsal bone","Short metatarsals","Shortened metatarsals","Short metatarsal bones"],[1964,3026]],[10744,"Absent metatarsal bone",["Absent long bone of foot","Aplasia of the metatarsal bones"],[1964]],[10745,"Aplasia of the phalanges of the toes",["Absent bones of the toes","Aphalangia of the toes"],[9817,10173]],[10746,"Hypoplasia of the phalanges of the toes",["Small toe bones"],[10173]],[10747,"Medial flaring of the eyebrow",["Medially flared eyebrows"],[534]],[10748,"Ectopic lacrimal punctum",["Abnormal position of the lacrimal punctum"],[11479]],[10749,"Blepharochalasis",["Saggy upper eyelid skin"],[100540]],[10750,"Dermatochalasis",["Baggy eyes","Droopy eyelid skin","Extra eyelid skin","Eyelid dermatochalasia","Redundant eyelid skin","Hooding of eyelids"],[492]],[10751,"Dimple chin",["Chin butt","Chin dent","Chin dimple","Chin skin dimple","Gelasin of chin","Indentation of chin","Chin dimples"],[306]],[10752,"Cleft mandible",["Cleft lower jaw","Mandibular cleft"],[10753]],[10753,"Midline defect of mandible",["Midline cleft of mandible"],[277]],[10754,"Abnormality of the temporomandibular joint",["Abnormality of the jaw joint","Anomaly of the temporomandibular joint","Deformity of the jaw joint","Malformation of jaw joint","Deformity of the temporomandibular joint","Derangement of the temporomandibular joint","Malformation of the temporomandibular joint"],[277]],[10755,"Asymmetry of the maxilla",["Asymmetry of the upper jaw","Asymmetry of upper jaw","Crooked upper jaw","Asymmetry of right and left side of the maxilla","Canted maxilla","Canted upper jaw","Crooked maxilla","Tilted maxilla","Tilted upper jaw","Unequal sides of maxilla","Uneven maxilla","Uneven upper jaw","Deviation of the maxilla","Deviation of the upper jaw"],[326]],[10756,"Aplasia/Hypoplasia of the premaxilla",["Aplasia/hypoplasia of the intermaxillary bone","Aplasia/hypoplasia of the primary palate bone"],[10758]],[10757,"Aplasia of the premaxilla",["Absence of the intermaxillary bone","Absence of the premaxilla","Absence of the primary palate bone","Aplasia of the intermaxillary bone","Aplasia of the primary palate bone","Failure of development of premaxilla","Failure of development of the primary palate bone","Missing premaxilla","Missing primary palate bone"],[10756,40008]],[10758,"Abnormality of the premaxilla",["Abnormality of the intermaxillary bone","Abnormality of the intermaxillary segment of the maxilla","Abnormality of the premaxillary bone","Abnormality of the primary palate bone"],[326]],[10759,"Prominence of the premaxilla",["Anterior position of the premaxilla","Anterior position of the primary palate bone","Premaxillary bone excess","Prominence of the intermaxillary bone","Prominence of the primary palate bone","Prominent premaxilla"],[10758]],[10760,"Absent toe",["Absent toes","Aplasia of toe","Aplasia of the toes"],[1991]],[10761,"Broad columella",["Columella, broad","Columella, wide","Fullness of columella","Increased width of columella","Hyperplasia of columella"],[9929]],[10762,"Chordoma",[],[10622]],[10763,"Low insertion of columella",["Ala higher than columella","Columella, low insertion"],[9929]],[10764,"Short eyelashes",["Decreased length of eyelashes"],[499]],[10765,"Palmar hyperkeratosis",[],[962,40211]],[10766,"Ectopic calcification",[],[924]],[10767,"Sacrococcygeal pilonidal abnormality",[],[5107]],[10769,"Pilonidal sinus",["Pilonidal cyst"],[10767]],[10770,"Pilonidal fistula",[],[10767]],[10771,"Pilonidal abscess",["Sacrococcygeal fistula"],[10767,31292]],[10772,"Anomalous pulmonary venous return",[],[30968]],[10773,"Partial anomalous pulmonary venous return",["PAPVC","PAPVD","PAPVR","Partial anomalous pulmonary venous connection","Partial anomalous pulmonary venous drainage"],[10772]],[10774,"Cor triatriatum",["Triatrial heart"],[5120]],[10775,"Vascular ring",["Vascular ring of aorta"],[11587]],[10776,"Tracheobronchmegaly",[],[10777,10778]],[10777,"Bronchomegaly",[],[25426]],[10778,"Tracheomegaly",[],[2778]],[10779,"Large pelvis bone",["Large pelvis"],[40163]],[10780,"Hyperacusis",[],[5200060]],[10781,"Skin dimple",["Skin dimples"],[11355]],[10782,"Shoulder dimple",["Acromial dimple","Bi-acromial dimples","Shoulder dimples"],[10781]],[10783,"Erythema",["Redness of skin or mucous membrane"],[11276]],[10784,"Uterine neoplasm",["Uterine cancer","Uterine tumor","Uterine tumour","Uterine neoplasia"],[31105,33020]],[10785,"Gonadal neoplasm",["Gonadal neoplasia"],[10787]],[10786,"Urinary tract neoplasm",["Urinary tract neoplasia"],[7379]],[10787,"Genital neoplasm",["Genital tumor","Genital tumour","Genital neoplasia"],[78,7379]],[10788,"Testicular neoplasm",["Testicular cancer","Testicular tumor","Testicular tumour","Testicular neoplasia"],[35,10785,100848]],[10789,"Abnormality of the Leydig cells",[],[35]],[10790,"Hypoplasia of the Leydig cells",[],[10789]],[10791,"Hyperplasia of the Leydig cells",[],[10789]],[10793,"Bifid nail",["Notched nail","duplicated nail"],[2164]],[10794,"Impaired visuospatial constructive cognition",[],[1328]],[10795,"Cerebellar glioma",[],[9733]],[10796,"Brainstem glioma",[],[9733]],[10797,"Hemangioblastoma",["Haemangioblastoma"],[100835]],[10798,"Lip freckle",["Ephelis of lip","Labial lentigo","Lip lentigo"],[159]],[10799,"Pinealoma",[],[30063,30693]],[10800,"Absent cupid's bow",["Agenesis of cupid's bow","Failure of development of cupid's bow","Lack of cupid's bow","Missing cupid's bow","Aplasia of cupid's bow"],[11339]],[10801,"Underdeveloped nasolabial fold",["Flat nasolabial fold","Nasolabial crease, hypoplastic","Nasolabial crease, underdeveloped","Nasolabial fold, hypoplastic","Shallow nasolabial fold"],[5289]],[10802,"Perioral hyperpigmentation",["Darkening of skin around the mouth","Increased pigmentation around the mouth"],[1000]],[10803,"Everted upper lip vermilion",["Eclabium of upper lip","Everted prominent upper lip","Everted upper lip","Outward turned upper lip","Drooping upper lip","Protruding upper lip"],[11339,12472]],[10804,"Tented upper lip vermilion",["Inverted V-shaped upper lip","Tented mouth","Tented upper lip"],[11339]],[10805,"Upturned corners of mouth",["Upturned mouth","Upturned oral commisures"],[11338]],[10806,"U-Shaped upper lip vermilion",["Carp-like mouth","Carp-shaped mouth","Fish mouth","Large, carp-shaped mouth","Wide, carp-shaped mouth"],[11339]],[10807,"Open bite",["Absence of overlap of upper and lower teeth","Open bite between upper and lower teeth"],[692]],[10808,"Protruding tongue",["Lingual prolapse","Lingual prominence","Lingual protrusion","Prolapse of tongue","Prominent tongue","Tongue protrusion","Tongue sticking out of mouth"],[30809]],[10809,"Broad uvula",["Wide uvula"],[172]],[10810,"Long uvula",["Hyperplasia of uvula","Long palatine uvula","Elongated uvula"],[172]],[10811,"Narrow uvula",["Narrow palatine uvula","Thin uvula"],[172]],[10812,"Short uvula",["Hypoplastic uvula","Short palatine uvula","Blunt uvula"],[10293]],[10813,"Abnormal number of hair whorls",["Abnormal number of hair swirls","Double crown (hair whorls)","Extra hair swirls","Extra hair whorl","Supernumary hair swirls","Supernumary hair whorl"],[10721]],[10814,"Abnormal position of hair whorl",["Abnormal location of hair swirl"],[10721]],[10815,"Nevus sebaceous",["Naevus sebaceous","Organoid nevus","Sebaceous mole","Sebaceous naevus","Sebaceous nevus"],[10816]],[10816,"Epidermal nevus",["Epidermal nevi"],[3764]],[10817,"Linear nevus sebaceous",[],[10815]],[10818,"Generalized tonic seizure",["Generalised hypertonic seizure","Generalised tonic seizure","Generalised tonic seizures","Generalized hypertonic seizure","Generalized tonic seizures","Hypertonic seizures"],[32677,32792]],[10819,"Atonic seizure",["Astatic seizure","Astatic seizures","Atonic seizures","Drop attacks","Drop seizures","Hypotonic seizure","Hypotonic seizures","Sudden loss of muscle tone"],[20219]],[10820,"Focal emotional seizure with crying",["Dacrystic seizure","Dacrystic seizures"],[25613]],[10821,"Focal emotional seizure with laughing",["Gelastic seizure","Gelastic seizures"],[25613]],[10822,"Scintillating scotoma",[],[575]],[10823,"Ridged cranial sutures",["Cranial suture ridges"],[11329]],[10824,"Abnormal fifth cranial nerve morphology",["Abnormal trigeminal nerve morphology","Abnormality of the fifth cranial nerve","Abnormality of the nervus trigeminus"],[1291]],[10825,"Abnormality of the eleventh cranial nerve",["Abnormality of cranial nerve XI","Abnormality of the accessory nerve"],[1291]],[10826,"Abnormality of the twelfth cranial nerve",["Abnormality of cranial nerve 12","Abnormality of cranial nerve xii","Abnormality of the hypoglossal nerve"],[3000075]],[10827,"Abnormal seventh cranial physiology",["Abnormality of the facial nerve"],[31910]],[10828,"Hemifacial spasm",["Spasms on one side of the face","Hemifacial spasms"],[3739]],[10829,"Impaired temperature sensation",["Abnormality of temperature sensation","Impaired thermal sensitivity","Loss of temperature sensation"],[33748]],[10830,"Impaired tactile sensation",["Abnormal thigmesthesia","Impaired touch sensation","Loss of tactile sensation"],[33748]],[10831,"Impaired proprioception",["Abnormality of proprioception"],[3474]],[10832,"Abnormality of pain sensation",[],[33747]],[10833,"Spontaneous pain sensation",[],[10832]],[10834,"Trophic changes related to pain",["Trophic changes"],[10832]],[10835,"Dissociated sensory loss",[],[3474]],[10836,"Abnormal circulating copper concentration",["Abnormal copper cation level","Abnormal copper levels"],[11030]],[10837,"Decreased circulating ceruloplasmin concentration",["Decreased ceruloplasmin concentration","Decreased ceruloplasmin level","Decreased ceruloplasmin level in blood","Decreased serum ceruloplasmin","Decreased serum ceruloplasminA","Hypoceruloplasminaemia","Hypoceruloplasminemia","Reduced ceruloplasmin concentration","Reduced ceruloplasmin level","Reduced ceruloplasmin level in blood"],[33144]],[10838,"High nonceruloplasmin-bound serum copper",[],[10836]],[10839,"Increased urinary copper concentration",[],[45036]],[10841,"Multifocal epileptiform discharges",["Multifocal EEG abnormality"],[11185]],[10843,"EEG with focal slow activity",["EEG: focal slow activity","EEG: localised slow activity","EEG: localized slow activity"],[11203]],[10844,"EEG with multifocal slow activity",[],[11203]],[10845,"EEG with generalized slow activity",["EEG with generalised slow activity","EEG: generalised slow activity","EEG: generalized slow activity"],[11203]],[10846,"EEG with persistent abnormal rhythmic activity",["EEG: persistent abnormal rhythmic activity"],[11176]],[10847,"EEG with spike-wave complexes (<2.5 Hz)",["Electroencephalogram demonstrated spike-slow wave discharges"],[10850]],[10848,"EEG with spike-wave complexes (2.5-3.5 Hz)",[],[10850]],[10849,"EEG with spike-wave complexes (>3.5 Hz)",["EEG with 3-4-Hz spike waves"],[10850]],[10850,"EEG with spike-wave complexes",[],[11198]],[10851,"EEG with burst suppression",[],[11198]],[10852,"EEG with photoparoxysmal response",["Photoparoxysmal response on EEG"],[2353]],[10853,"EEG with periodic lateralized epileptiform discharges",["EEG: periodic lateralized epileptiform discharges"],[11186]],[10854,"EEG with generalized low amplitude activity",["EEG with generalised low amplitude activity","EEG: generalised low amplitude activity","EEG: generalized low amplitude activity"],[11201]],[10855,"EEG with localized low amplitude activity",["EEG with localised low amplitude activity","EEG: localised low amplitude activity","EEG: localized low amplitude activity"],[11201]],[10856,"EEG with periodic complexes",["EEG: periodic complexes","Radermecker complexes"],[10857]],[10857,"EEG with periodic abnormalities",["EEG: periodic abnormalities"],[11200]],[10858,"EEG with hyperventilation-induced epileptiform discharges",[],[11182]],[10859,"Frank breech presentation",[],[1623]],[10860,"Complete breech presentation",[],[1623]],[10861,"Incomplete breech presentation",[],[1623]],[10862,"Delayed fine motor development",[],[1270]],[10863,"Receptive language delay",[],[750]],[10864,"Severe intellectual disability",["Early and severe mental retardation","Intellectual disability, severe","Mental retardation, severe","Severe mental retardation"],[1249]],[10865,"Age-inappropriate oppositional behavior",["Developmentally inappropriate oppositional behavior","Excessive oppositional behavior","ODD","Oppositional defiant disorder"],[718]],[10866,"Abdominal wall defect",["Congenital anterior abdominal wall defect"],[4298]],[10867,"Dyssynergia",[],[1251]],[10868,"Ocular dyssynergia",[],[10867]],[10869,"Asynergia",[],[10867]],[10871,"Sensory ataxia",["Afferent ataxia","Ataxia, sensory","Spinal ataxia"],[10831]],[10872,"T-wave inversion",["EKG: T-wave inversion"],[5135]],[10873,"Cervical spinal cord atrophy",[],[6827]],[10874,"Tendon xanthomatosis",["Tendon xanthomas"],[991,100261]],[10875,"Chaddock reflex",[],[7256]],[10876,"Abnormal circulating protein concentration",["Abnormal circulating protein level","Abnormality of circulating protein level","Blood protein disease","Serum protein abnormality"],[430071]],[10877,"Monocular strabismus",["Unilateral strabismus"],[486]],[10878,"Fetal cystic hygroma",["Foetal cystic hygroma"],[476,25667]],[10879,"Postnatal cystic hygroma",[],[476]],[10880,"Increased nuchal translucency",[],[969,25667]],[10881,"Abnormality of the umbilical cord",["Umbilical cord issue"],[1194]],[10882,"Pulmonary valve atresia",[],[1641]],[10883,"Aortic valve atresia",["Aortic atresia"],[1646]],[10884,"Acromelia",[],[9815]],[10885,"Avascular necrosis",["Aseptic bone necrosis","Aseptic necrosis","Bone infarction","Death of bone due to decreased blood supply","Ischaemic bone necrosis","Ischemic bone necrosis","Osteochondronecrosis","Osteonecrosis"],[11843]],[10886,"Osteochondritis dissecans",["Osteochondrosis dissecans"],[40188]],[10888,"Morbus Koehler",[],[100323,100339]],[10889,"Morbus Kienboeck",["Kienboeck's disease","Kienböck's disease","Lunatomalacia"],[4248,100323]],[10890,"Morbus Osgood-Schlatter",["Osgood Schlatter disease"],[2992,100323]],[10891,"Morbus Scheuermann",["Calve disease","Juvenile osteochondrosis of the spine","Scheuermann disease","Scheuermann kyphosis","Sherman's Disease"],[3468,100323]],[10892,"Abnormal circulating branched-chain amino acid concentration",["Abnormal branched-chain amino acid level"],[33107]],[10893,"Abnormal circulating phenylalanine concentration",["Abnormal phenylalanine level","Abnormality of phenylalanine metabolism"],[4338]],[10894,"Abnormal circulating serine family amino acid concentration",["Abnormal serine family amino acid level","Abnormality of serine family amino acid metabolism"],[33107]],[10895,"Abnormal circulating glycine concentration",[],[10894]],[10896,"Hypersarcosinemia",["High plasma sarcosine levels"],[10898]],[10897,"Hypersarcosinuria",["High urine sarcosine levels"],[33100]],[10898,"Abnormal circulating sarcosine concentration",[],[10894]],[10899,"Abnormal circulating aspartate family amino acid concentration",["Abnormal aspartate family amino acid level"],[33107]],[10900,"Abnormal circulating threonine concentration",["Abnormal threonine level","Abnormality of threonine metabolism"],[10899]],[10901,"Abnormal circulating methionine concentration",["Abnormality of methionine metabolism"],[4339,10899]],[10902,"Abnormal circulating glutamine family amino acid concentration",["Abnormal glutamine family amino acid level"],[33107]],[10903,"Abnormal circulating glutamine concentration",["Abnormal glutamine level"],[10902]],[10904,"Abnormal circulating histidine concentration",["Abnormal histidine level","Abnormality of histidine metabolism"],[4338]],[10906,"Hyperhistidinemia",["Elevated histidine concentration","Elevated histidine level","Elevated histidine level in blood","High blood histidine level","Increased histidine concentration","Increased histidine level","Increased histidine level in blood","Histidinemia"],[10904]],[10907,"Abnormal circulating proline concentration",["Abnormal proline level"],[10902]],[10908,"Abnormal circulating lysine concentration",["Abnormal lysine level","Abnormality of lysine metabolism"],[10899]],[10909,"Abnormal circulating arginine concentration",["Abnormal arginine level","Abnormality of arginine metabolism"],[10902]],[10910,"Hypervalinemia",["Elevated valine concentration","Elevated valine level","Elevated valine level in blood","High blood valine concentration","Increased valine concentration","Increased valine level","Increased valine level in blood"],[10914]],[10911,"Hyperleucinemia",["Elevated leucine concentration","Elevated leucine level","Elevated leucine level in blood","High blood leucine concentration","Increased leucine concentration","Increased leucine level","Increased leucine level in blood"],[4357]],[10912,"Abnormal circulating isoleucine concentration",["Abnormal isoleucine level"],[10892]],[10913,"Hyperisoleucinemia",["Elevated isoleucine concentration","Elevated isoleucine level","Elevated isoleucine level in blood","High blood isoleucine concentration","Increased isoleucine concentration","Increased isoleucine level","Increased isoleucine level in blood"],[10912]],[10914,"Abnormal circulating valine concentration",["Abnormal valine level","Abnormality of valine metabolism"],[10892]],[10915,"Abnormal circulating pyruvate family amino acid concentration",["Abnormal pyruvate family amino acid level","Abnormality of pyruvate family amino acid metabolism"],[33107,33108]],[10916,"Abnormal circulating alanine concentration",["Abnormality of alanine metabolism"],[10915]],[10917,"Abnormal circulating tyrosine concentration",["Abnormal tyrosine level"],[4338]],[10918,"Abnormal circulating cysteine concentration",[],[4339]],[10919,"Abnormal circulating homocysteine concentration",["Abnormal homocysteine level"],[4339]],[10920,"Zonular cataract",[],[518]],[10921,"Coralliform cataract",[],[10920]],[10922,"Membranous cataract",[],[518]],[10923,"Anterior subcapsular cataract",[],[523]],[10924,"Posterior cortical cataract",[],[100019]],[10925,"Nuclear punctate cataract",[],[7648,100018]],[10926,"Aculeiform cataract",["Fasciculiform cataract","Frosted cataract","Needle-shaped cataract"],[100018]],[10927,"Abnormal circulating inorganic divalent cation concentration",["Abnormality of divalent inorganic cation homeostasis"],[10929]],[10929,"Abnormal circulating inorganic cation concentration",["Abnormal blood cation concentration","Abnormal inorganic cation level","Abnormality of cation homeostasis"],[3111]],[10930,"Abnormal circulating monovalent inorganic cation concentration",["Abnormal blood monovalent inorganic cation concentration","Abnormal monovalent inorganic cation level","Abnormality of monovalent inorganic cation homeostasis"],[10929]],[10931,"Abnormal circulating sodium concentration",["Abnormal blood Na+ levels","Abnormal blood sodium concentration","Abnormal circulating Na concentration","Abnormal sodium(1+) level","Abnormality of sodium homeostasis"],[10930]],[10932,"Abnormal circulating nucleobase concentration",["Abnormal nucleobase level","Abnormal nucleoside levels"],[4364]],[10933,"Hyperxanthinemia",["Increased circulating xanthine concentration"],[4368]],[10934,"Xanthinuria",["Increased urinary xanthine"],[33354]],[10935,"Abnormality of the upper urinary tract",[],[79]],[10936,"Abnormality of the lower urinary tract",[],[79]],[10937,"Abnormal nasal skeleton morphology",["Abnormality of the nasal skeleton","Anomaly of the nasal skeleton","Deformity of the bones of the nose","Deformity of the nasal skeleton","Distortion of the bones of the nose","Distortion of the nasal skeleton","Malformation of the bones of the nose","Malformation of the nasal skeleton"],[5105,11842]],[10938,"Abnormal external nose morphology",["Abnormality of the external nose","Anomaly of the external nose","Deformity of the external nose","Malformation of the external nose"],[5105]],[10939,"Abnormal nasal bone morphology",["Abnormality of the nasal bone","Anomaly of the nasal bones","Deformity of the nasal bones","Malformation of the nasal bones"],[10937]],[10940,"Aplasia/Hypoplasia of the nasal bone",[],[10939]],[10941,"Aplasia of the nasal bone",["Failure of development of the nasal bone","Lack of development of the nasal bone","Absence of the nasal bone","Agenesis of the nasal bone","Missing nasal bone"],[10940]],[10942,"Echogenic intracardiac focus",[],[10948,11425]],[10943,"Echogenic fetal bowel",["Echogenic bowel","Echogenic foetal bowel","Hyperechogenic fetal bowel","Hyperechogenic foetal bowel","Prenatal ultrasound: hyperechogenic bowel"],[11425,34207]],[10944,"Abnormal renal pelvis morphology",["Abnormality of the renal pelvis"],[12210]],[10945,"Fetal pyelectasis",["Fetal renal pelvic dilatation","Foetal pyelectasis","Foetal renal pelvic dilatation","Mild fetal hydronephrosis","Mild foetal hydronephrosis"],[10944,11425,34242]],[10946,"Dilatation of the renal pelvis",[],[10944]],[10947,"Abnormality of ductus venosus blood flow",[],[34190]],[10948,"Abnormal fetal cardiovascular morphology",["Abnormality of the fetal cardiovascular system","Abnormality of the fetal circulation system","Abnormality of the foetal cardiovascular system","Abnormality of the foetal circulation system"],[30680,34058]],[10949,"Abnormality of umbilical vein blood flow",[],[25657]],[10950,"Abnormal fourth ventricle morphology",["Abnormality of the fourth ventricle"],[2118]],[10951,"Abnormal third ventricle morphology",["Abnormality of the third ventricle"],[2118]],[10952,"Mild fetal ventriculomegaly",["Mild foetal ventriculomegaly"],[2119,11425,34206]],[10953,"Noncommunicating hydrocephalus",[],[238]],[10954,"Hypoplastic right ventricle",["Hypoplastic right heart syndrome","Underdeveloped right heart"],[1961,11723]],[10955,"Dilatation of the bladder",[],[25487]],[10956,"Fetal megacystis",["Foetal megacystis"],[10955]],[10957,"Congenital posterior urethral valve",["COPUM","Congenital obstructing posterior urethral membranes","Posterior urethral valve","Posterior urethral valves"],[10481,34378]],[10958,"Bilateral renal agenesis",[],[104]],[10959,"Congenital pulmonary airway malformation",["CCAM","Congenital cystic adenomatoid malformation","Congenital cystic adenomatoid malformation of the lung","Congenital cystic disease of the lung","Cystic adenomatoid lung disease"],[5948,34243]],[10963,"Absence of stomach bubble on fetal sonography",["Absence of stomach bubble on foetal sonography","Absent stomach bubble","Non-visualisation of the fetal stomach","Non-visualisation of the foetal stomach"],[11425,34207]],[10964,"Abnormal circulating long-chain fatty-acid concentration",[],[4359]],[10965,"Abnormal circulating phytanic acid concentration",["Abnormal circulating phytanic acid level"],[10964]],[10966,"Abnormal circulating fatty acid anion concentration",["Abnormal fatty acid anion level","Abnormality of fatty acid anion"],[4359]],[10967,"Abnormal circulating carnitine concentration",["Abnormal carnitine level","Carnitine levels abnormal"],[10966]],[10968,"Abnormality of liposaccharide metabolism",[],[32243]],[10969,"Abnormality of glycolipid metabolism",[],[32243]],[10970,"Blood group antigen abnormality",[],[1877]],[10971,"Absence of Lutheran antigen on erythrocytes",[],[10970]],[10972,"Anemia of inadequate production",["Anaemia of inadequate production","Anemia, dyserythropoietic","Defective erythropoiesis","Dyserythropoietic anaemia","Dyserythropoietic anemia","Ineffective erythropoiesis"],[1903]],[10974,"Abnormal myeloid leukocyte morphology",["Abnormality of myeloid leukocytes"],[1881]],[10975,"Abnormal total B cell count",["Abnormal B cell count","Abnormal number of B cells","Abnormal numbers of B cells","Abnormality of B cell count","Abnormality of B cell numbers"],[2846,40088]],[10976,"Decreased total B cell count",["B cell deficiency","B cell lymphopenia","B lymphocytopenia","Decreased B cell count","Low B cell count","Reduction in B cell number","CD19 lymphocytes low"],[10975]],[10977,"Abnormal phagocytosis",[],[10978]],[10978,"Abnormality of immune system physiology",[],[2715]],[10979,"Abnormal circulating lipoprotein cholesterol concentration",["Abnormal lipoprotein cholesterol level","Abnormality of the level of lipoprotein cholesterol"],[3107]],[10980,"Hyperlipoproteinemia",[],[10979]],[10981,"Hypolipoproteinemia",["Lack of fat in blood"],[10979]],[10982,"Polygenic inheritance",["Common, complex disease","Complex disease","Multifactorial inheritance"],[1426]],[10983,"Oligogenic inheritance",[],[1426]],[10984,"Digenic inheritance",[],[1426]],[10987,"Abnormal cellular immune system morphology",[],[32251]],[10988,"Abnormality of the extrinsic pathway",[],[3256]],[10989,"Abnormality of the intrinsic pathway",[],[3256]],[10990,"Abnormality of the common coagulation pathway",[],[3256]],[10991,"Abnormal morphology of the abdominal musculature",["Abnormality of the abdominal musculature"],[4298,40286]],[10992,"Stress urinary incontinence",[],[20]],[10993,"Abnormal cerebral subcortex morphology",["Abnormality of the cerebral medulla","Abnormality of the cerebral subcortex"],[2060]],[10994,"Abnormal corpus striatum morphology",["Abnormality of the neostriatum","Abnormality of the striate nucleus","Abnormality of the striatum"],[2134]],[10995,"Abnormal circulating dicarboxylic acid concentration",["Abnormal dicarboxylic acid level"],[4354]],[10996,"Abnormal circulating monocarboxylic acid concentration",["Abnormal monocarboxylic acid level"],[4354]],[10997,"Chromosomal breakage induced by ionizing radiation",["Chromosomal breakage induced by ionising radiation","Increased cellular radiosensitivity","Radiation-induced chromosome instability"],[40012]],[10998,"Increased susceptibility to spontaneous sister chromatid exchange",[],[3220]],[10999,"Aplasia of the optic tract",["Absent optic tract"],[11000]],[11000,"Aplasia/Hypoplasia of the optic tract",["Absent/small optic tract","Absent/underdeveloped optic tract"],[2977]],[11001,"Increased bone mineral density",["Increased bone density","Osteosclerosis","Osteosclerosis of bones"],[4348]],[11002,"Osteopetrosis",["Harder, denser, fracture-prone bones","Albers-Schoenberg disease","Albers-Schonberg disease","Albers-Schönberg disease","Marble bone disease"],[11001]],[11003,"High myopia",["Severe myopia","Severe myopia (> -6.00 diopters)","Severe near sightedness","Severely close sighted","Severely near sighted"],[545]],[11004,"Abnormal systemic arterial morphology",["Abnormal systemic artery morphology","Abnormality of the systemic arterial tree","Systemic artery abnormality","Arterial abnormalities"],[33353]],[11005,"Mixed cirrhosis",[],[1394]],[11006,"Abnormal morphology of the musculature of the neck",["Abnormality of cervical musculature","Abnormality of the musculature of the neck","Neck muscle issue"],[25668,40286]],[11008,"Temporal pattern",["Speed of onset"],[31797]],[11009,"Acute",["Acute onset"],[11008]],[11010,"Chronic",[],[11008]],[11011,"Subacute",[],[11008]],[11012,"Abnormal circulating polysaccharide concentration",["Abnormal polysaccharide level"],[11013]],[11013,"Abnormal circulating carbohydrate concentration",[],[430071]],[11014,"Abnormal glucose homeostasis",[],[12337]],[11015,"Abnormal blood glucose concentration",["Abnormality of blood glucose concentration"],[11014,20347]],[11017,"Abnormal cellular physiology",["Abnormality of cell physiology"],[1939,25354]],[11018,"Abnormality of the cell cycle",[],[11017]],[11019,"Abnormality of chromosome condensation",[],[11017]],[11020,"Abnormality of mucopolysaccharide metabolism",[],[4371]],[11021,"Abnormal circulating enzyme concentration",["Abnormality of circulating enzyme level"],[10876]],[11022,"Abnormal circulating unsaturated fatty acid concentration",["Abnormal unsaturated fatty acid level"],[4359]],[11023,"Abnormal circulating prostaglandin concentration",["Abnormal circulating prostaglandin circulation","Abnormal prostaglandin level"],[30361]],[11024,"Abnormality of the gastrointestinal tract",["Abnormality of the GI tract","Digestive system disease","Gastrointestinal disease"],[25031]],[11025,"Abnormal cardiovascular system physiology",["Abnormality of cardiovascular system physiology"],[1626]],[11026,"Aplasia/Hypoplasia of the vagina",["Absent/small vagina","Absent/underdeveloped vagina"],[142]],[11027,"Abnormal fallopian tube morphology",["Abnormality of the fallopian tube"],[8]],[11028,"Abnormality of blood circulation",["Blood circulation disorder"],[11025]],[11029,"Internal hemorrhage",["Internal bleeding","Internal haemorrhage"],[1892,11028]],[11030,"Abnormal circulating transition element cation concentration",["Abnormal blood transition element cation concentration","Abnormal transition element cation level","Abnormality of transition element cation homeostasis"],[10929]],[11031,"Abnormality of iron homeostasis",[],[11030]],[11032,"Abnormality of fluid regulation",["Fluid imbalance"],[12337]],[11033,"Impairment of fructose metabolism",[],[32245]],[11034,"Amyloid deposition",["Amyloidosis","Amyloid disease"],[1939]],[11035,"Abnormal renal cortex morphology",["Abnormality of renal cortex morphology"],[12210]],[11036,"Abnormality of renal excretion",[],[12211]],[11037,"Decreased urine output",[],[12590]],[11038,"Abnormal renal tubular resorption",["Abnormal renal resorption","Abnormality of renal resorption"],[124]],[11039,"Abnormal helix morphology",["Abnormal helices","Abnormality of the helix","Helix abnormal"],[377]],[11040,"Abnormal intrahepatic bile duct morphology",["Abnormality of the intrahepatic bile duct"],[12440]],[11041,"Aplasia/Hypoplasia of the cervical spine",["Absent/small cervical spine","Absent/underdeveloped cervical spine"],[8518,46508]],[11042,"Abnormal circulating potassium concentration",["Abnormal blood K concentration","Abnormal blood potassium concentration","Abnormal potassium(1+) level","Abnormality of potassium homeostasis"],[10930]],[11043,"Abnormal circulating adrenocorticotropin concentration",["Abnormality of circulating corticotropin level","Abnormality of circulating ACTH level","Abnormality of circulating adrenocorticotropic hormone level","Abnormality of circulating adrenocorticotropin level"],[3117]],[11044,"Abnormal number of permanent teeth",["Abnormal complement of permanent teeth","Abnormal number of adult teeth","Abnormal number of secondary dentition","Abnormal permanent tooth count"],[6483]],[11045,"Agenesis of permanent maxillary central incisor",["Agenesis of adult maxillary central incisor","Failure of development of permanent maxillary central incisor","Absence of permanent maxillary central incisor","Absence of permanent upper central incisor","Absence of permanent upper front tooth","Missing adult upper central incisor","Missing permanent maxillary central incisor","Missing permanent upper central incisor","Missing permanent upper front tooth"],[6293]],[11046,"Agenesis of primary maxillary central incisor",["Agenesis of deciduous maxillary central incisor","Failure of development of deciduous maxillary central incisor","Failure of development of primary maxillary central incisor","Absence of deciduous maxillary central incisor","Absence of primary maxillary central incisor","Absence of upper front baby tooth","Missing deciduous maxillary central incisor","Missing primary maxillary central incisor","Missing upper front baby tooth","Missing upper front milk tooth"],[6293]],[11047,"Agenesis of primary mandibular central incisor",["Agenesis of deciduous lower central incisor","Agenesis of primary lower central incisor","Failure of development of deciduous mandibular central incisor","Failure of development of primary mandibular central incisor","Absence of deciduous mandibular central incisor","Absence of primary mandibular central incisor","Missing deciduous mandibular central incisor","Missing lower central incisor milk tooth","Missing lower front baby tooth","Missing lower front milk tooth","Missing lower front primary tooth","Missing primary mandibular central incisor"],[6355]],[11048,"Agenesis of permanent mandibular central incisor",["Agenesis of adult mandibular central incisor","Failure of development of permanent mandibular central incisor","Absence of permanent lower central incisor","Absence of permanent lower front tooth","Absence of permanent mandibular central incisor","Missing adult lower central incisor","Missing permanent lower central incisor","Missing permanent lower front tooth","Missing permanent mandibular central incisor"],[6355]],[11049,"Agenesis of primary maxillary lateral incisor",["Agenesis of deciduous maxillary lateral incisor","Failure of development of deciduous maxillary lateral incisor","Failure of development of primary maxillary lateral incisor","Absence of deciduous maxillary lateral incisor","Absence of primary maxillary lateral incisor","Missing deciduous maxillary lateral incisor","Missing primary maxillary lateral incisor"],[690]],[11050,"Agenesis of permanent maxillary lateral incisor",["Agenesis of permanent upper lateral incisor","Failure of development of permanent maxillary lateral incisor","Failure of development of permanent upper lateral incisor","Absence of permanent maxillary lateral incisor","Missing permanent maxillary lateral incisor","Missing permanent upper lateral incisor"],[690]],[11051,"Agenesis of premolar",["Agenesis of bicuspid","Failure of development of bicuspid","Failure of development of premolar","Absence of bicuspid","Absence of premolar","Missing bicuspid","Missing premolar"],[1592,11080]],[11052,"Agenesis of maxillary premolar",["Agenesis of maxillary bicuspid","Failure of development of maxillary bicuspid","Failure of development of maxillary premolar","Absence of maxillary bicuspid","Absence of maxillary premolar","Absence of upper premolar","Missing maxillary premolar","Missing upper bicuspid","Missing upper premolar"],[11051]],[11053,"Agenesis of mandibular premolar",["Failure of development of mandibular premolar","Absence of lower premolar","Absence of mandibular premolar","Missing lower premolar","Missing mandibular premolar"],[11051]],[11054,"Agenesis of molar",["Absent molars","Failure of development of molar","Absence of molar","Missing molar"],[1592,11070]],[11055,"Agenesis of permanent molar",["Agenesis of secondary molar","Failure of development of permanent molar","Failure of development of secondary molar","Absence of adult molar","Absence of permanent molar","Missing adult molar","Missing permanent molar"],[11054]],[11056,"Agenesis of first permanent molar tooth",["Agenesis of six year molar","Failure of development of first permanent molar","Failure of development of six year molar","Absence of first permanent molar","Absence of six year molar","Missing first permanent molar","Missing six year molar"],[11055]],[11057,"Agenesis of second permanent molar",["Agenesis of twelve year molar","Failure of development of second permanent molar","Failure of development of twelve year molar","Absence of second permanent molar","Absence of twelve year molar","Missing second permanent molar","Missing twelve year molar"],[11055]],[11058,"Generalized periodontitis",["Generalised gum disease","Generalized gum disease","Widespread gum disease","Generalised periodontal disease","Generalised periodontitis","Generalized periodontal disease"],[20341]],[11059,"Localized periodontitis",["Limited area of gum disease","Localised gum disease","Localized gum disease","Localised periodontal disease","Localised periodontitis","Localized periodontal disease"],[20341]],[11060,"Dentinogenesis imperfecta limited to primary teeth",["Dentinogenesis imperfecta of baby teeth"],[703]],[11061,"Abnormality of dental structure",["Abnormality of tooth part","Abnormality of tooth structure"],[6482]],[11062,"Misalignment of incisors",["Abnormality of position of incisors","Malposition of incisors","Abnormality of alignment of incisors","Crooked front teeth","Crooked incisors"],[692,11063]],[11063,"Abnormal incisor morphology",["Abnormality of incisor morphology","Abnormality of shape of incisor"],[6482]],[11064,"Abnormal number of incisors",["Abnormal number of front teeth"],[6483,11063]],[11065,"Conical incisor",["Cone shaped front tooth","Conoid incisor","Peg shaped incisors","Peg-shaped incisors","Shark tooth incisor","Peg shaped front tooth","Pointed front tooth","Pointed incisor"],[698,11063]],[11067,"Mesiodens",["Extra tooth","Extra tooth in the midline","Median supernumary tooth","Midline supernumary tooth","Mesiodentes"],[11069]],[11068,"Odontoma",["Odontomas"],[10566,100612]],[11069,"Supernumerary tooth",["Extra teeth","Hyperdontia","Increased number of teeth","Increased tooth count","Supernumerary teeth","Supplemental dentition","Supplemental teeth","Tooth, supernumerary","Supernumary dentition","Supernumary teeth","More teeth than normal"],[6483]],[11070,"Abnormal molar morphology",["Abnormal shape of molar tooth","Abnormality of molar morphology"],[6482]],[11071,"Abnormal permanent molar morphology",["Abnormality of permanent molar morphology","Abnormality of shape of adult molar","Abnormality of shape of permanent molar"],[11070]],[11072,"Rootless teeth",["Absence of tooth root","Agenesis of tooth root","Aplasia of tooth root","Missing tooth root","Teeth without roots","Tooth with dentin dysplasia type i"],[6486]],[11073,"Abnormality of dental color",["Abnormality of dental colour","Abnormality of dental shade","Abnormality of tooth color","Abnormality of tooth colour","Abnormality of tooth shade"],[11061]],[11074,"Localized hypoplasia of dental enamel",["Localised hypoplasia of dental enamel","Localised hypoplasia of tooth enamel","Localized hypoplasia of tooth enamel","Localised dysplasia of tooth enamel","Localized dysplasia of tooth enamel"],[6297]],[11075,"Green teeth",["Green colored teeth","Green coloured teeth","Green tooth shade"],[11073]],[11078,"Abnormal canine tooth morphology",["Abnormality of canine","Abnormality of eye tooth"],[6482]],[11079,"Impacted tooth",["Buried tooth","Retained tooth"],[706]],[11080,"Abnormal premolar morphology",["Abnormality of bicuspid morphology","Abnormality of premolar morphology","Abnormality of shape of bicuspid","Abnormality of shape of premolar"],[6482]],[11081,"Incisor macrodontia",["Hyperplasia of incisor","Hypertrophy of incisor","Increased size of incisor","Large incisor","Increased width of incisor"],[1572,11063]],[11082,"Conical primary incisor",["Cone shaped front baby tooth","Conical deciduous incisor","Conoid primary incisor","Primary front shark tooth","Peg shaped front baby tooth","Peg shaped primary incisor","Pointed front baby tooth","Pointed primary incisor"],[11065]],[11083,"Conical maxillary incisor",["Cone shaped maxillary incisor","Cone shaped upper front tooth","Conoid maxillary incisor","Upper front shark tooth","Peg shaped upper front tooth","Pointed maxillary incisor","Pointed upper front tooth"],[11065]],[11084,"Hypocalcification of dental enamel",["Decreased enamel calcification","Poorly calcified tooth enamel"],[6285]],[11085,"Hypomature dental enamel",["Immature tooth enamel","Soft teeth","Soft tooth enamel"],[6285]],[11086,"Dentinogenesis imperfecta of primary and permanent teeth",["Dentinogenesis imperfecta of adult and baby teeth","Dentinogenesis imperfecta of both sets of teeth"],[703]],[11087,"Talon cusp",["Extra cusp on inside of front tooth","Dens evaginatus","Talon cusps"],[33777]],[11088,"Dens in dente",["Dens invaginatus","Tooth within a tooth"],[11063]],[11089,"Double tooth",["Conjoined teeth","Teeth, double","Twinning tooth"],[6482]],[11090,"Fused teeth",["Fusion of teeth","Joined teeth"],[11089]],[11091,"Gemination",["Gemination of tooth","Splitting of crown of tooth"],[11089]],[11092,"Mulberry molar",["Syphilitic permanent first molar"],[11070,33777]],[11093,"Molarization of premolar",["Molar shape of bicuspid","Molar shape of premolar","Molarization of bicuspid","Enlarged premolar","Increased size of premolar"],[11080]],[11094,"Increased overbite",["Increased overlap of upper and lower incisors","Overbite","Supraocclusion","Deep bite","Deep overbite","Scissors bite"],[692]],[11095,"Overjet",["Abnormality of horizontal incisor relationship","Protrusion of upper teeth in front of lower teeth","Buck teeth","Protrusion of the maxillary incisors","Upper teeth sticking out forward"],[692]],[11096,"Peripheral demyelination",["Demyelination"],[3130]],[11097,"Epileptic spasm",["Epileptic spasms","Salaam convulsion","Salaam convulsions","Salaam seizure","Salaam seizures","West syndrome"],[20219]],[11098,"Speech apraxia",["Apraxia of speech","Verbal dyspraxia","Speech dyspraxia"],[2186]],[11099,"Spastic hemiparesis",["Spastic hemiplegia"],[1269,34353,100021]],[11100,"Intestinal atresia",[],[2242,2589]],[11102,"Ileal atresia",[],[1549,11100]],[11103,"Abnormal left ventricular outflow tract morphology",["Abnormality of the left ventricular outflow tract"],[1711]],[11104,"Abnormality of blood volume homeostasis",[],[11028]],[11105,"Hypervolemia",["Fluid overload in blood"],[11104]],[11106,"Hypovolemia",["Depleted blood volume"],[11104]],[11107,"Recurrent aphthous stomatitis",["Recurrent canker sores","Recurrent oral aphthae","Aphthous stomatitis","Buccal aphthous ulcers","Recurrent aphthous ulcers"],[31446,5210251]],[11108,"Recurrent sinusitis",["Recurrent sinus infections","Sinusitis, recurrent","Recurrent sinus disease"],[246,2788]],[11109,"Chronic sinusitis",["Chronic sinus disease","Sinusitis, chronic"],[246]],[11110,"Recurrent tonsillitis",["Recurrent inflammation of tonsils"],[2719,100765]],[11111,"Abnormal immune serum protein physiology",["Abnormality of immune serum protein physiology"],[10978]],[11112,"Abnormal circulating cytokine concentration",["Abnormality of serum cytokine level"],[11111]],[11113,"Abnormality of cytokine secretion",[],[11111]],[11114,"Defective production of NFKB1-dependent cytokines",[],[11113]],[11115,"Abnormal circulating chemokine concentration",["Abnormality of chemokine secretion"],[11112]],[11116,"Abnormal circulating interferon concentration",["Abnormal serum interferon level","Abnormality of interferon secretion"],[11112]],[11117,"Abnormal circulating interleukin concentration",["Abnormal serum IL level","Abnormal serum interleukin level","Abnormality of IL secretion","Abnormality of interleukin secretion"],[11112]],[11118,"Abnormality of tumor necrosis factor secretion",["Abnormality of cachectin secretion","Abnormality of cachexin secretion","Abnormality of tumour necrosis factor secretion"],[11113]],[11119,"Abnormal nasal dorsum morphology",["Abnormality of the dorsum of nose","Abnormality of the nasal dorsum","Abnormality of the nasal ridge","Anomaly of the nasal ridge","Abnormal morphology of dorsum of nose","Crooked dorsum of nose","Crooked nasal dorsum","Crooked nasal ridge","Deformity of the dorsum of the nose","Deformity of the nasal dorsum","Deformity of the nasal ridge","Malformation of the dorsum of nose","Malformation of the nasal dorsum","Malformation of the nasal ridge"],[10938]],[11120,"Concave nasal ridge",["Boxer's nasal deformity","Boxer's nose deformity","Concave dorsum of nose","Concave nasal dorsum","Saddle nose","Saddle shaped nasal dorsum","Ski jump nose","Saddle nose deformity"],[11119]],[11121,"Abnormal skin morphology",["Abnormal skin structure","Abnormality of skin morphology"],[951]],[11122,"Abnormal skin physiology",["Abnormality of skin physiology"],[951]],[11123,"Inflammatory abnormality of the skin",["Abnormal tendency to infections of the skin","Skin inflammation","Inflammatory skin disease"],[11122,12649]],[11124,"Abnormal epidermal morphology",["Abnormality of epidermal morphology"],[11121]],[11125,"Abnormal dermal melanosome morphology",["Abnormality of dermal melanosomes"],[1000]],[11126,"Nephroptosis",["Floating kidney","Renal ptosis"],[100542]],[11127,"Perioral eczema",["Eczema around the mouth"],[964]],[11128,"Acute esophageal necrosis",[],[2031]],[11129,"Bilateral fetal pyelectasis",["Bilateral fetal pyelectasia","Bilateral foetal pyelectasia","Bilateral foetal pyelectasis"],[10945]],[11130,"Abnormal renal calyx morphology",["Abnormality of renal calyx morphology"],[12210]],[11131,"Perianal dermatitis",["Perianal rash"],[34915]],[11132,"Chronic furunculosis",[],[5406]],[11133,"Increased sensitivity to ionizing radiation",[],[11017]],[11134,"Low-grade fever",["Mild fever"],[1945]],[11135,"Aplasia/Hypoplasia of the sweat glands",["Absent/small sweat glands","Absent/underdeveloped sweat glands"],[971]],[11136,"Aplasia of the sweat glands",["Absent sweat glands","Lack of sweat glands"],[11135]],[11137,"Non-pruritic urticaria",["Non-itchy hives"],[11276]],[11138,"Abnormal skin adnexa morphology",["Abnormal skin appendage","Abnormality of skin adnexa morphology"],[1574]],[11139,"Gastric duplication",["Gastric duplication cyst"],[2577,11140]],[11140,"Gastrointestinal duplication",["GI duplication"],[12718]],[11141,"Age-related cataract",["Clouding of the lens of the eye with age"],[518]],[11142,"Age-related nuclear cataract",[],[11141]],[11143,"Age-related cortical cataract",[],[11141]],[11144,"Age-related posterior subcapsular cataract",[],[11141]],[11145,"Symptomatic seizures",[],[1250]],[11146,"Dialeptic seizure",["Behavioral arrest seizure with impairment of awareness irrespective of onset","Behavioural arrest seizure with impairment of awareness irrespective of onset","Unknown onset behavioral arrest seizure with impairment of awareness","Unknown onset behavioural arrest seizure with impairment of awareness"],[1250]],[11147,"Typical absence seizure",["Typical absence","Typical absence seizures"],[2121]],[11149,"Absence seizure with eyelid myoclonia",["Absence seizures with eyelid myoclonia"],[2121,32678]],[11150,"Myoclonic absence seizure",["Myoclonic absence","Myoclonic absences"],[2121]],[11151,"Atypical absence status epilepticus",["Obtundation status"],[32860]],[11152,"Early onset absence seizures",["Early onset petit mal seizures"],[11147]],[11153,"Focal motor seizure",["Focal motor seizures","Localised motor seizure","Localised motor seizures","Localized motor seizure","Localized motor seizures","Partial motor seizure","Partial motor seizures","Segmental motor seizure"],[7359,20219]],[11154,"Focal autonomic seizure",["Focal autonomic seizures"],[32679]],[11157,"Focal sensory seizure",["Focal sensory seizures","Partial sensory seizure","Sensory aura"],[33348]],[11158,"Focal sensory seizure with auditory features",["Auditory aura","Focal auditory seizure","Focal sensory auditory seizure","Partial auditory seizure"],[11157]],[11159,"Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena",["Abdominal aura","Epigastric aura","Epigastric auras","Localised seizure with epigastric sensation","Localized seizure with epigastric sensation","Partial seizure with epigastric sensation","Visceral aura"],[11154]],[11160,"Focal sensory seizure with gustatory features",["Focal gustatory seizure","Focal sensory gustatory seizure","Gustatory aura","Gustatory auras","Partial gustatory seizure"],[11157]],[11161,"Focal sensory seizure with olfactory features",["Focal olfactory seizure","Olfactory aura","Olfactory auras","Partial olfactory seizure"],[11157,33693]],[11163,"Focal sensory seizure with somatosensory features",["Focal somatosensory seizure","Partial somatosensory seizure","Somatosensory aura","Somatosensory auras"],[11157]],[11165,"Focal sensory seizure with visual features",["Focal visual seizure","Partial visual seizure","Visual aura","Visual auras","Simple partial occipital seizures"],[11157]],[11166,"Focal myoclonic seizure",["Focal myoclonic seizures","Local myoclonic seizures","Localised myoclonic seizure","Localized myoclonic seizure","Partial myoclonic seizure","Partial myoclonic seizures","Segmental myoclonic seizure","Segmental myoclonic seizures"],[11153,32794]],[11167,"Focal tonic seizure",["Focal tonic seizures","Local tonic seizures","Localised tonic seizure","Localized tonic seizure","Partial tonic seizure","Partial tonic seizures","Segmental tonic seizure"],[11153,32792]],[11168,"Focal seizure with eyelid myoclonia",[],[11166]],[11169,"Generalized clonic seizure",["Generalised clonic seizure","Generalised clonic seizures","Generalised onset clonic seizure","Generalised-onset clonic seizure","Generalized clonic seizures","Generalized onset clonic seizure","Generalized-onset clonic seizure"],[20221,32677]],[11170,"Generalized myoclonic-atonic seizure",["Generalised myoclonic-atonic seizure","Myoclonic atonic seizures","Myoclonic-astatic seizure"],[32677]],[11171,"Simple febrile seizure",["Simple febrile convulsion","Simple febrile seizures","Simple fever fit"],[2373]],[11172,"Complex febrile seizure",["Complex febrile convulsion","Complex febrile seizures","Complex fever fit"],[2373]],[11173,"Focal behavior arrest seizure",["Focal behaviour arrest seizure","Focal hypokinetic seizure","Hypokinetic seizure","Hypokinetic seizures","Localised seizure with behavioral arrest","Localised seizure with behavioural arrest","Localized seizure with behavioral arrest","Partial hypokinetic seizure","Partial seizure with behavior arrest","Partial seizure with behaviour arrest"],[32679]],[11174,"Focal hyperkinetic seizure",["Hyperkinetic seizures","Localised hyperkinetic seizure","Localized hyperkinetic seizure","Partial hyperkinetic seizure","Segmental hyperkinetic seizure"],[11153]],[11175,"Focal motor seizure with version",["Versive seizure","Versive seizures"],[11153]],[11176,"EEG with constitutional variants",[],[2353]],[11177,"EEG with 4-5/second background activity",[],[11176]],[11178,"Alpha-EEG",[],[11176]],[11179,"Beta-EEG",["Beta wave electroencephalography"],[11176,11202]],[11180,"Partial beta-EEG",[],[11179]],[11181,"Low voltage EEG",[],[11176]],[11182,"Interictal epileptiform activity",["Epileptiform EEG discharges"],[25373]],[11183,"EEG with hyperventilation-induced focal epileptiform discharges",[],[10858]],[11184,"EEG with hyperventilation-induced generalized epileptiform discharges",["EEG with hyperventilation-induced generalised epileptiform discharges"],[10858]],[11185,"EEG with focal epileptiform discharges",["Focal EEG Abnormality"],[11182]],[11186,"Focal epileptiform discharges with limited propagation to contralateral hemisphere",[],[11185]],[11187,"Focal EEG discharges with propagation to ipsilateral hemisphere",[],[11185]],[11188,"Focal EEG discharges with secondary generalization",["Focal EEG discharges with secondary generalisation"],[11185]],[11189,"Bilateral multifocal epileptiform discharges",[],[10841]],[11190,"Uni- and bilateral multifocal epileptiform discharges",[],[10841]],[11191,"Unilateral multifocal epileptiform discharges",[],[10841]],[11192,"Polymorphic focal epileptiform discharges",[],[11185]],[11193,"EEG with focal spikes",[],[11185]],[11194,"EEG with series of focal spikes",[],[11193]],[11195,"EEG with focal sharp slow waves",[],[11185]],[11196,"EEG with focal sharp waves",[],[11185]],[11197,"EEG with focal spike waves",[],[11185]],[11198,"EEG with generalized epileptiform discharges",["EEG with generalised epileptiform discharges"],[11182]],[11199,"EEG with generalized sharp slow waves",["EEG with generalised sharp slow waves"],[11198]],[11200,"EEG with generalized polymorphic epileptiform discharges",["EEG with generalised polymorphic epileptiform discharges"],[11198]],[11201,"EEG with changes in voltage",[],[2353]],[11202,"EEG with diffuse acceleration",[],[2353]],[11203,"EEG with abnormally slow frequencies",[],[2353]],[11204,"EEG with continuous slow activity",[],[10845]],[11205,"EEG with intermittent slow activity",[],[10845]],[11206,"EEG with generalized slow activity grade 1",["EEG with generalised slow activity grade 1"],[10845]],[11207,"EEG with generalized slow activity grade 2",["EEG with generalised slow activity grade 2"],[10845]],[11208,"EEG with generalized slow activity grade 3",["EEG with generalised slow activity grade 3"],[10845]],[11209,"EEG with generalized slow activity grade 4",["EEG with generalised slow activity grade 4","Flat line EEG"],[10845]],[11210,"EEG with occipital slowing",[],[10843]],[11211,"EEG with photoparoxysmal response grade I",[],[10852]],[11212,"EEG with photoparoxysmal response grade II",[],[10852]],[11213,"EEG with photoparoxysmal response grade III",[],[10852]],[11214,"EEG with photoparoxysmal response grade IV",[],[10852]],[11215,"Hemihypsarrhythmia",[],[11185]],[11217,"Abnormal shape of the occiput",["Abnormal shape of posterior head","Abnormal shape of the back of the head","Abnormal shape of posterior cranium","Abnormal shape of posterior skull","Abnormal shape of the back of the skull"],[12294]],[11218,"Abnormal shape of the frontal region",["Abnormal morphology of the frontal region","Abnormal shape of the forehead","Dysmorphic forehead","Dysmorphic frontal region"],[430000]],[11219,"Short face",["Decreased height of face","Decreased length of face","Decreased vertical dimension of face","Short facies","Vertical Facial Deficiency","Vertical deficiency of face","Vertical facial insufficiency","Vertical hypoplasia of face","Vertical insufficiency of face","Vertical shortening of face"],[274]],[11220,"Prominent forehead",["Prominence of frontal region","Pronounced forehead","Protruding forehead","Bulging forehead"],[290]],[11221,"Vertical forehead creases",["Frontal creases of face","Vertical forehead rhytids","Vertical forehead wrinkles"],[290]],[11222,"Depressed glabella",["Concave glabella","Deficiency of glabella","Deficient area between the eyebrows","Flat area between the eyebrows","Flat glabella","Hypoplasia of glabella"],[2056]],[11223,"Metopic depression",["Depression of frontal cranial suture","Depression of metopic cranial suture","Frontal suture depression"],[5556]],[11224,"Ablepharon",["Ablepharon of eyelid","Absent eyelids","Agenesis of eyelids","Missing eyelids","Aplasia of the eyelids"],[11226]],[11225,"Epiblepharon",[],[492]],[11226,"Aplasia/Hypoplasia of the eyelid",["Failure of development of eyelid","Hypotrophic eyelid"],[492]],[11227,"Elevated circulating C-reactive protein concentration",["Elevated C-reactive protein concentration","Elevated C-reactive protein level","Elevated C-reactive protein level in blood","Increased C-reactive protein concentration","Increased C-reactive protein level","Increased C-reactive protein level in blood","Elevated CRP"],[32436,33331]],[11228,"Horizontal eyebrow",["Lack of eyebrow arch","Lack of eyebrow curvature","Flat eyebrow","Straight eyebrow","Straight eyebrows"],[534]],[11229,"Broad eyebrow",["Broad eyebrows","Flared eyebrow","Increased vertical height of eyebrow","Increased vertical thickness of eyebrow","Flared eyebrows","Increased vertical width of eyebrow"],[534]],[11230,"Laterally extended eyebrow",["Increased lateral length of eyebrow","Laterally elongated eyebrow","Laterally extended eyebrows"],[534]],[11231,"Prominent eyelashes",["Thick eyelashes"],[499]],[11232,"Infra-orbital fold",["Infraorbital fold","Dennie-Morgan fold"],[606]],[11233,"Antihelical shelf",["Conchal shelf"],[9738]],[11234,"Absent antihelix",[],[9738]],[11235,"Additional crus of antihelix",[],[9738]],[11236,"Angulated antihelix",[],[9738]],[11237,"Broad inferior crus of antihelix",["Antihelix, inferior crus, broad"],[11243]],[11238,"Prominent inferior crus of antihelix",["Antihelix, inferior crus, prominent","Hyperplastic inferior crus of antihelix","Hypertrophic inferior crus of antihelix"],[11243]],[11239,"Underdeveloped inferior crus of antihelix",["Antihelix, inferior crus, underdeveloped","Hypoplastic inferior crus of antihelix","Hypotrophic inferior crus of antihelix"],[11243]],[11240,"Prominent stem of antihelix",["Hyperplastic antihelix stem","Hypertrophic antihelix stem"],[11244]],[11241,"Serpiginous stem of antihelix",["Antihelix, stem, serpiginous"],[11244]],[11242,"Underdeveloped stem of antihelix",["Antihelix, stem, underdeveloped"],[11244]],[11243,"Abnormality of inferior crus of antihelix",["Abnormality of anterior crus of antihelix"],[9738]],[11244,"Abnormality of stem of antihelix",[],[9738]],[11245,"Abnormality of superior crus of antihelix",["Abnormality of posterior crus of antihelix"],[9738]],[11246,"Underdeveloped superior crus of antihelix",["Hypoplastic superior crus of antihelix","Hypotrophic superior crus of antihelix"],[11245]],[11247,"Prominent superior crus of antihelix",["Hyperplastic superior crus of antihelix","Hypertrophic superior crus of antihelix"],[11245]],[11248,"Everted antitragus",[],[9896]],[11249,"Absent antitragus",[],[9896]],[11250,"Bifid antitragus",["Double antitragus"],[9896]],[11251,"Underdeveloped antitragus",["Hypoplastic antitragus","Hypotrophic antitragus","Small antitragus"],[9896]],[11252,"Cryptotia",["Buried ear","Hidden ear"],[377]],[11253,"Type I cryptotia",["Type 1 cryptotia"],[11252]],[11254,"Type II cryptotia",["Type 2 cryptotia"],[11252]],[11255,"Absent crus of helix",["Helix, crus, absent"],[9895]],[11256,"Crus of helix connected to antihelix",["Helix, crus, connected to antihelix"],[9895]],[11257,"Serpiginous crus of helix",["Helix, crus, serpiginous"],[9895]],[11258,"Tragal bridge of crus of helix",["Helix, crus, tragal bridge"],[9895]],[11259,"Expanded terminal portion of crus of helix",["Helix, crus, expanded terminal portion"],[9895]],[11260,"Darwin notch of helix",["Helix, Darwin notch"],[9902]],[11261,"Darwin tubercle of helix",["Helix, Darwin tubercle"],[11039]],[11262,"Crimped helix",["Helix, crimped","Indented helix"],[11039]],[11263,"Forward facing earlobe",["Lobe, forward facing"],[363]],[11264,"Discontinuous ascending root of helix",["Helix, discontinuous ascending root"],[11039]],[11265,"Cleft earlobe",["Bifid earlobe","Bifid lobe","Notched earlobe","Notched lobe"],[363]],[11266,"Microtia, first degree",["First-degree microtia"],[8551]],[11267,"Microtia, third degree",["Abnormal shape/structure of ear","Third-degree microtia"],[8551]],[11268,"Absent tragus",[],[9913]],[11269,"Bifid tragus",["Notched tragus","Tragus, bifid"],[9912]],[11270,"Duplicated tragus",["Accessory tragus","Tragus, duplicated"],[9912]],[11271,"Prominent tragus",["Enlarged tragus","Hyperplastic tragus","Hypertrophic tragus","Large tragus","Tragus, prominent"],[9912]],[11272,"Underdeveloped tragus",["Hypoplastic tragus","Hypotrophic tragus","Small tragus"],[9913]],[11273,"Anisocytosis",["Unequal size of red blood cells"],[1877]],[11274,"Recurrent mycobacterial infections",[],[2718,5210110]],[11275,"Recurrent mycobacterium avium complex infections",[],[11274]],[11276,"Vascular skin abnormality",["Skin vascular malformation","Vascular abnormalities restricted to skin"],[2597,11354]],[11277,"Abnormality of the urinary system physiology",[],[79]],[11278,"Intrapulmonary lobar sequestration",["Intralobar sequestration","Intrapulmonary sequestration"],[100632]],[11279,"Abnormality of urine bicarbonate level",["Abnormality of urine HCO3 concentration"],[6000531]],[11280,"Abnormality of urine calcium concentration",["Abnormality of urine Ca concentration","Abnormality of urine Ca2+ concentration"],[12591]],[11281,"Abnormality of urine catecholamine level",[],[33354]],[11282,"Abnormal hindbrain morphology",["Abnormal shape of hindbrain","Abnormality of hindbrain morphology","Abnormality of the hindbrain"],[12443]],[11283,"Abnormal metencephalon morphology",["Abnormality of the metencephalon"],[11282]],[11284,"Short-segment aganglionic megacolon",[],[2251]],[11285,"Long-segment aganglionic megacolon",[],[2251]],[11286,"Total colonic aganglionosis",[],[2251]],[11287,"EEG with occipital sharp slow waves",[],[11195,33720]],[11288,"EEG with parietal sharp slow waves",[],[11195,33719]],[11289,"EEG with temporal sharp slow waves",[],[11195,33717]],[11290,"EEG with frontal sharp slow waves",[],[11195,33716]],[11291,"EEG with central sharp slow waves",[],[11195,33718]],[11292,"EEG with occipital sharp waves",[],[11196,33720]],[11293,"EEG with central sharp waves",[],[11196,33718]],[11294,"EEG with frontal sharp waves",[],[11196,33716]],[11295,"EEG with parietal sharp waves",[],[11196,33719]],[11296,"EEG with temporal sharp waves",[],[11196,33717]],[11297,"Abnormal digit morphology",["Abnormality of digit","Abnormality of fingers or toes","Digital anomalies"],[2813]],[11298,"Prominent digit pad",[],[11356]],[11299,"Partial absence of finger",[],[5918]],[11300,"Broad fingertip",["Broad fingertips"],[1211]],[11301,"Absent foot",["Aplasia of the foot","Apodia"],[6494,6000946]],[11302,"Long palm",[],[100871]],[11303,"Convex contour of sole",[],[100872]],[11304,"Broad thumb",["Broad phalanges of the thumb","Broad thumbs","Wide/broad thumb","Wide/broad thumb phalanges"],[9602,9768]],[11305,"Partial absence of toe",["Hypophalangy of toes"],[10760]],[11307,"Splayed toes",[],[1780]],[11308,"Slender toe",["Narrow toe"],[1780]],[11309,"Tapered toe",["Tapering toes"],[1780]],[11310,"Bridged palmar crease",["Bridged palm line","Transitional palmar crease"],[10490]],[11311,"Sydney crease",[],[10490]],[11312,"Fused nails",[],[2164]],[11313,"Narrow nail",[],[2164]],[11314,"Abnormal long bone morphology",["Abnormal shape of long bone","Abnormality of long bone morphology","Abnormality of the tubular bones"],[11844]],[11315,"Unicoronal synostosis",["Unilateral coronal suture craniosynostosis","Unilateral coronal suture synostosis","Unilateral coronal craniosynostosis"],[4440]],[11316,"Left unicoronal synostosis",[],[11315]],[11317,"Right unicoronal synostosis",[],[11315]],[11318,"Bicoronal synostosis",["Bilateral coronal craniosynostosis","Bilateral coronal suture craniosynostosis","Bilateral coronal suture synostosis"],[4440]],[11319,"Bilambdoid synostosis",["Bilateral lambdoid craniosynostosis","Bilateral lambdoid suture synostosis"],[4443]],[11320,"Unilambdoid synostosis",["Unilateral lambdoid craniosynostosis","Unilateral lambdoid suture synostosis"],[4443]],[11321,"Left unilambdoid synostosis",[],[11320]],[11322,"Right unilambdoid synostosis",[],[11320]],[11323,"Cleft of chin",["Midline defect of chin"],[306]],[11324,"Multiple suture craniosynostosis",["Multisutural craniosynostosis"],[1363]],[11325,"Pansynostosis",["Sysnostosis of all cranial sutures"],[11324]],[11326,"Anterior plagiocephaly",["Anterior flat head syndrome","Deformational frontal plagiocephaly","Frontal plagiocephaly","Deformational anterior plagiocephaly","Positional anterior plagiocephaly","Positional frontal plagiocephaly","Coronal synostosis","Unicoronal craniosynostosis"],[1357]],[11327,"Posterior plagiocephaly",["Deformational posterior plagiocephaly","Occipital plagiocephaly"],[1357]],[11328,"Abnormal fontanelle morphology",["Anomaly of the fontanelles"],[235]],[11329,"Abnormality of cranial sutures",["Abnormality of the bregma sutures","Abnormality of the calvarium sutures","Abnormality of the cranial sutures","Abnormality of the skull suture"],[235]],[11330,"Metopic synostosis",["Metopic craniosynostosis","Metopic suture craniosynostosis"],[5556]],[11331,"Hemifacial atrophy",["Atrophy of half of face","Atrophy of one side of the face","Facial hemiatrophy"],[324]],[11332,"Hemifacial hypoplasia",["Decrease in size of half of face","Decrease in size of one side of the face","Decreased size of half of the face","Decreased size of one side of the face","Shrinking of half of face","Shrinking of one side of the face","Hemifacial microsomia"],[324]],[11333,"Asymmetric crying face",["Partial unilateral facial paresis","Hypoplasia of depressor angula oris muscle"],[324]],[11334,"Facial shape deformation",["Facial shape compression","Distortion of facial shape"],[1999]],[11335,"Frontal hirsutism",["Hairy forehead","Hirsute forehead"],[290,9937]],[11336,"Bitemporal forceps marks",["Bitemporal aplasia cutis congenita","Congenital ectodermal dysplasia of the face","Congenital, bilateral, scarlike facial lesions","Focal facial dermal dysplasia","Temporal skin defect"],[606]],[11337,"Abnormality of mouth size",["Anomaly of mouth size"],[163]],[11338,"Abnormality of mouth shape",["Anomaly of mouth shape","Unusual mouth shape"],[163]],[11339,"Abnormality of upper lip vermillion",["Abnormality of the red part of the upper lip","Anomaly of the upper lip vermillion","Deformity of the upper lip vermillion","Malformation of the upper lip vermillion"],[177]],[11340,"Incomplete cleft of the upper lip",["Forme fruste unilateral cleft lip","Incomplete cheiloschisis","Notched cleft of the upper lip","Partial cleft of the upper lip"],[204]],[11341,"Long upper lip",["Elongation of upper lip","Increased height of upper lip","Increased vertical length of upper lip"],[177]],[11342,"Mild global developmental delay",["Global developmental delay, mild","Psychomotor retardation, mild"],[1263]],[11343,"Moderate global developmental delay",["Global developmental delay, moderate","Psychomotor retardation, moderate"],[1263]],[11344,"Severe global developmental delay",["Global developmental delay, severe","Severe psychomotor retardation"],[1263]],[11345,"Moderate expressive language delay",[],[2474]],[11346,"Mild expressive language delay",[],[2474]],[11347,"Abnormality of ocular abduction",[],[496]],[11348,"Abnormal sixth cranial nerve morphology",["Abnormal abducens nerve morphology","Abnormality of the sixth cranial nerve"],[1291]],[11350,"Mild receptive language delay",[],[10863]],[11351,"Moderate receptive language delay",[],[10863]],[11352,"Severe receptive language delay",[],[10863]],[11353,"Arterial intimal fibrosis",["Intimal fibrosis"],[11004]],[11354,"Generalized abnormality of skin",["Generalised abnormality of skin"],[11121]],[11355,"Localized skin lesion",["Localised skin lesion"],[11121]],[11356,"Regional abnormality of skin",[],[11121]],[11358,"Generalized hypopigmentation of hair",["Generalised hypopigmentation of hair"],[5599]],[11359,"Dry hair",[],[10719]],[11360,"Acquired abnormal hair pattern",[],[10720]],[11361,"Congenital abnormal hair pattern",["Abnormal hair pattern since birth"],[10720]],[11362,"Abnormal hair quantity",["Abnormality of hair density"],[1595]],[11363,"Abnormality of hair growth rate",["Abnormality of pace of hair growth","Abnormality of speed of hair growth"],[40170]],[11364,"White hair",[],[11358]],[11365,"Patchy hypopigmentation of hair",[],[5599]],[11367,"Yellow nails",[],[100643]],[11368,"Epidermal thickening",["Abnormality of keratinization"],[1072]],[11369,"Mongolian blue spot",[],[1034]],[11370,"Recurrent cutaneous fungal infections",[],[1581,2841]],[11371,"Recurrent viral skin infections",[],[1581,4429]],[11372,"Aplasia of the inner ear",["Absent inner ear","Aplasia of the labyrinth","Labyrinthine aplasia","Michel deformity"],[8774]],[11373,"Incomplete partition of the cochlea",[],[8554]],[11374,"Incomplete partition of the cochlea type I",[],[11373]],[11375,"Cochlear aplasia",["Absent cochlea"],[11395]],[11376,"Abnormal morphology of the vestibule of the inner ear",["Morphological abnormality of the vestibule of the inner ear","Vestibular abnormality"],[11390]],[11377,"Aplasia of the vestibule",["Absent vestibule"],[11376]],[11378,"Hypoplasia of the vestibule of the inner ear",[],[11376]],[11379,"Dilated vestibule of the inner ear",[],[11376]],[11380,"Abnormal semicircular canal morphology",["Morphological abnormality of the semicircular canal"],[11376]],[11381,"Aplasia of the semicircular canal",["Absent semicircular canal"],[11380]],[11382,"Hypoplasia of the semicircular canal",["Small semicircular canal","Hypoplasia of the semicircular canals"],[11380]],[11383,"Enlarged semicircular canal",["Dilated semicircular canal"],[11380]],[11384,"Abnormality of the internal auditory canal",["Abnormality of the internal acoustic meatus"],[11390]],[11385,"Absent internal auditory canal",[],[11384]],[11386,"Narrow internal auditory canal",[],[11384]],[11387,"Enlarged vestibular aqueduct",["Dilated vestibular aqueduct","Widened vestibular aqueduct"],[11376]],[11388,"Enlarged cochlear aqueduct",["Dilated cochlear aqueduct"],[375]],[11389,"Functional abnormality of the inner ear",[],[31704]],[11390,"Abnormal inner ear morphology",["Morphological abnormality of the inner ear"],[359]],[11391,"Abnormal inner ear nerve morphology",["Morphological abnormality of the nerves of the inner ear"],[11390]],[11392,"Abnormality of the vestibular nerve",[],[11391]],[11393,"Aplasia of the vestibular nerve",["Absent cranial nerve viii","Absent the eighth cranial nerve","Absent vestribular nerve","Aplasia of the eighth cranial nerve","Aplasia of cranial nerve VIII"],[11392]],[11394,"Hypoplasia of the vestibular nerve",["Hypoplasia of the eighth cranial nerve","Thin vestibular nerve","Hypoplasia of cranial nerve VIII"],[11392]],[11395,"Aplasia/Hypoplasia of the cochlea",["Absent/small cochlea","Absent/underdeveloped cochlea"],[375,8774]],[11396,"Abnormality of the cochlear nerve",[],[11391]],[11397,"Abnormal spinal cord dorsal column morphology",["Abnormality of the dorsal column of the spinal cord"],[20029]],[11399,"Tibialis anterior muscle atrophy",["Sharp shin sign","Tibialis anterior amyotrophy","Tibialis muscle degeneration"],[8944]],[11400,"Abnormal CNS myelination",["Abnormal formation of myelin sheaths"],[2011,12447]],[11401,"Delayed peripheral myelination",[],[3130,12448]],[11402,"Demyelinating sensory neuropathy",[],[7108]],[11403,"Abnormal umbilical cord blood vessel morphology",["Abnormal umbilical cord blood vessels"],[10881]],[11404,"Lethal short-trunk short stature",["Lethal short-trunk dwarfism"],[3521]],[11405,"Childhood onset short-limb short stature",["Short-limb dwarfism identifiable during childhood"],[8873]],[11406,"Infancy onset short-trunk short stature",["Short-trunk dwarfism, identifiable in infancy"],[3521]],[11407,"Proportionate tall stature",[],[98]],[11408,"Moderate intrauterine growth retardation",[],[1511]],[11409,"Abnormal placental membrane morphology",["Abnormality of placental membranes"],[1194]],[11410,"Caesarean section",[],[1787]],[11411,"Forceps delivery",[],[1787]],[11412,"Ventouse delivery",["Vacuum extraction","Vacuum-assisted vaginal delivery"],[1787]],[11413,"Shoulder dystocia",[],[1787]],[11414,"Hydropic placenta",["Hydrops of the placenta"],[6267]],[11415,"Calcified placenta",["Placental calcification"],[100767]],[11416,"Placental infarction",["Placental thromboembolism"],[100767]],[11417,"Long umbilical cord",[],[10881]],[11418,"Abnormal insertion of umbilical cord",[],[10881]],[11419,"Placental abruption",["Abruptio placentae"],[100767]],[11420,"Age of death",[],[40006]],[11421,"Death in adolescence",[],[11420]],[11422,"Abnormal circulating chloride concentration",["Abnormal blood Cl concentration","Abnormal blood Cl- concentration","Abnormal blood chloride concentration","Abnormal chloride level","Abnormality of chloride homeostasis"],[20330]],[11423,"Hyperchloremia",["Elevated chloride concentration","Elevated chloride level","Elevated chloride level in blood","Increased chloride concentration","Increased chloride level","Increased chloride level in blood"],[11422]],[11424,"Increased serum zinc",["Hyperzincemia"],[8277]],[11425,"Fetal ultrasound soft marker",["Foetal ultrasound soft marker"],[34058]],[11426,"Fetal choroid plexus cysts",["Foetal choroid plexus cysts"],[11425,34206]],[11427,"Enlarged fetal cisterna magna",["Enlarged foetal cisterna magna"],[11425,34206]],[11428,"Short fetal femur length",["Short fetal thigh bone length","Short foetal femur length","Short foetal thigh bone length"],[11425,25662]],[11429,"Short fetal humerus length",["Short fetal long bone in upper arm length","Short foetal humerus length","Short foetal long bone in upper arm length"],[11425,25662]],[11430,"Hypoplasia of fetal nasal bone",["Hypoplasia of foetal nasal bone","Underdeveloped fetal nose bone","Underdeveloped foetal nose bone"],[11425,25662]],[11431,"Fetal fifth finger clinodactyly",["Fetal little finger curvature","Fetal pinkie finger curvature","Fetal pinky finger curvature","Foetal little finger curvature","Foetal pinkie finger curvature","Foetal pinky finger curvature","Foetal fifth finger clinodactyly"],[11425,25662]],[11432,"Elevated maternal circulating alpha-fetoprotein concentration",["Elevated maternal serum alpha-fetoprotein","High MSAFP MoM","High maternal circulating alpha-fetoprotein concentration","High maternal serum alpha-fetoprotein","High maternal serum alpha-fetoprotein MoM","Increased maternal serum alpha-fetoprotein level","MSAFP MoM>2.5"],[11436]],[11433,"High maternal circulating chorionic gonadotropin concentration",["High maternal serum chorionic gonadotropin","High maternal serum hCG"],[11436]],[11434,"Low maternal circulating chorionic gonadotropin concentration",["Low maternal serum chorionic gonadotropin","Low maternal serum hCG"],[11436]],[11435,"Low maternal circulating PAPP-A concentration",["Low maternal serum PAPP-A"],[11436]],[11436,"Abnormal maternal serum screening",[],[2686]],[11437,"Maternal autoimmune disease",[],[2686]],[11438,"Maternal teratogenic exposure",[],[31437]],[11439,"Anesthetic-induced rhabdomylosis",[],[3201]],[11440,"Alcohol-induced rhabdomyolysis",[],[3201]],[11441,"Abnormal medulla oblongata morphology",["Abnormality of the medulla oblongata","Abnormality of the myencephalon"],[2363,11282]],[11442,"Abnormal central motor function",["Abnormality of central motor function"],[12638]],[11443,"Abnormality of coordination",["Coordination issue"],[11442]],[11444,"Decorticate rigidity",[],[2063]],[11445,"Athetoid cerebral palsy",["Dyskinetic cerebral palsy"],[2071,100021]],[11446,"Abnormality of mental function",["Abnormality of higher mental function"],[12638]],[11447,"Hyposegmentation of neutrophil nuclei",["Hyposegmentation of neutrophil nuclei in peripheral blood","Pelger-Huet anomaly"],[11992]],[11448,"Ankle clonus",["Abnormal rhythmic movements of ankle"],[2169,34674]],[11449,"Knee clonus",["Patellar clonus"],[2169]],[11450,"Unusual CNS infection",["Central nervous system infection"],[2011,32158]],[11451,"Primary microcephaly",["Congenital small head","Congenital small head circumference","Small head circumference present at birth","Small head present at birth","Small skull present at birth","Congenital decreased head circumference","Congenital microcephaly","Congenital small skull","Decreased head circumference present at birth","Microcephaly present at birth","Small cranium present at birth","Head circumference small for gestational age"],[252]],[11452,"Functional abnormality of the middle ear",[],[370]],[11453,"Abnormal incus morphology",["Abnormality of the incus"],[4452]],[11454,"Abnormal malleus morphology",["Abnormality of the malleus"],[4452]],[11455,"Absent malleus",[],[11454]],[11456,"Absent stapes",[],[8628]],[11457,"Loss of eyelashes",["Ciliary Madarosis","Eyelashes fell out","Milphosis","Missing eyelashes"],[499]],[11458,"Abdominal symptom",[],[25032]],[11459,"Esophageal carcinoma",[],[100751]],[11460,"Embryonal onset",[],[30674]],[11461,"Fetal onset",["Foetal onset"],[30674]],[11462,"Young adult onset",[],[3581]],[11463,"Childhood onset",["Symptoms begin in childhood"],[410280]],[11464,"Aganglionosis of the small intestine",[],[4362]],[11465,"Duodenal aganglionosis",[],[11464]],[11466,"Aplasia/Hypoplasia of the gallbladder",["Absent/small gallbladder","Absent/underdeveloped gallbladder"],[12437]],[11467,"Absent gallbladder",["Agenesis of the gallbladder","Aplasia of the gallbladder"],[11466]],[11468,"Facial tics",["Myoclonus of facial muscles","Cramping of facial muscles","Facial spasms","Jerking of facial muscles","Mimic spasms","Spasms of facial muscles","Twitching of facial muscles","Involuntary facial muscle spasms","Muscle spasm of face"],[5324]],[11469,"Nasal regurgitation",[],[8872]],[11470,"Nasogastric tube feeding in infancy",[],[8872,33454]],[11471,"Gastrostomy tube feeding in infancy",["PEG-fed in infancy"],[8872,33454]],[11472,"Abnormal small intestinal villus morphology",["Abnormal shape of small intestinal villus","Abnormality of small intestinal villus morphology"],[25129]],[11473,"Villous atrophy",["Atrophy of small intestinal villi","Villous degeneration","Biopsy shows villous atrophy","Duodenal villous atrophy","Small intestine biopsy shows villous atrophy","Variable degree of villous atrophy"],[11472]],[11474,"Childhood onset sensorineural hearing impairment",[],[407]],[11475,"Persistent stapedial artery",[],[8609]],[11476,"Profound sensorineural hearing impairment",["Profound sensorineural hearing loss"],[407,12715]],[11477,"Upbeat nystagmus",[],[10544]],[11478,"True anophthalmia",["Complete anophthalmia","Complete anophthalmos","Completely missing eyeball","Total anophthalmia","Total anophthalmos"],[528]],[11479,"Abnormal lacrimal punctum morphology",["Abnormality of the lacrimal punctum"],[614]],[11480,"Unilateral microphthalmos",["Abnormally small eyeball on one side","Unilateral nanophthalmos"],[568]],[11481,"Abnormal lacrimal duct morphology",["Abnormality of the lacrimal canaliculus","Abnormality of the lacrimal duct"],[614]],[11482,"Abnormal lacrimal gland morphology",["Abnormality of the lacrimal gland"],[614]],[11483,"Anterior synechiae of the anterior chamber",["Anterior synechiae","Cornea-iris adhesion","Iridocorneal adhesions","Iridocorneal synechia"],[7833]],[11484,"Posterior synechiae of the anterior chamber",["Iridolenticular adhesions","Posterior synechiae"],[7833]],[11485,"Corneolenticular adhesion",[],[593]],[11486,"Abnormal corneal thickness",["Abnormality of corneal thickness"],[481]],[11487,"Increased corneal thickness",[],[11486]],[11488,"Abnormal corneal endothelium morphology",["Abnormality of corneal endothelium"],[481]],[11489,"Abnormal migration of corneal endothelium",[],[11488]],[11490,"Abnormal Descemet membrane morphology",["Abnormality of Descemet's membrane"],[11488]],[11491,"Reduced number of corneal endothelial cells",[],[11488]],[11492,"Abnormal corneal stroma morphology",["Abnormality of corneal stroma"],[481]],[11493,"Central opacification of the cornea",[],[7759]],[11494,"Generalized opacification of the cornea",["Generalised opacification of the cornea"],[7759]],[11495,"Abnormal corneal epithelium morphology",["Abnormality of corneal epithelium"],[481]],[11496,"Corneal neovascularization",["Corneal neovascularisation","Corneal vascularization","Limbal neovascularization","New blood vessel formation in cornea","Corneal pannus"],[481]],[11497,"Rubeosis iridis",["Iris neovascularization","Neovascularization of the iris","New blood vessel formation in iris"],[7905]],[11499,"Mydriasis",["Dilated pupil"],[7686]],[11500,"Polycoria",["Multiple pupils"],[615]],[11501,"Anterior lenticonus",[],[1142]],[11502,"Posterior lenticonus",[],[1142]],[11503,"Aplasia of the fovea",["Absent fovea"],[8060]],[11504,"Bull's eye maculopathy",[],[8002]],[11505,"Cystoid macular edema",[],[40049]],[11506,"Choroidal neovascularization",["Choroidal neovascular membrane"],[610,1103]],[11507,"Macular flecks",[],[30500]],[11508,"Macular hole",[],[1103]],[11509,"Macular hyperpigmentation",[],[8002]],[11510,"Drusen",[],[30506]],[11511,"Macular schisis",[],[30502]],[11512,"Fundus hyperpigmentation",["Hyperpigmentation of the fundus","Hyperpigmented fundi","Hyperpigmented fundus"],[31605]],[11513,"Retinal cavernous hemangioma",["Retinal cavernous angioma","Retinal cavernous haemangioma"],[7797]],[11514,"Abnormality of binocular vision",[],[504]],[11515,"Abnormal stereopsis",[],[11514]],[11516,"Achromatopsia",["Rod monochromacy","Rod monochromatism"],[7803]],[11517,"Cone monochromacy",[],[7803]],[11518,"Dichromacy",[],[7641]],[11519,"Anomalous trichromacy",[],[7641]],[11520,"Deuteranomaly",["Deuteranomoly","Green-weak"],[642,11519]],[11521,"Deuteranopia",["Green-blind"],[642,11518]],[11522,"Protanopia",["Red-blind"],[642,11518]],[11523,"Iris cyst",[],[525]],[11524,"Iris melanoma",[],[525,7716]],[11525,"Iris nevus",["Eye freckle"],[525]],[11526,"Abnormality of lens shape",[],[517]],[11527,"Lentiglobus",["Bulging of eye lens"],[11526]],[11528,"Solitary congenital hypertrophy of retinal pigment epithelium",["Single isolated CHRPE","Single isolated congenital hypertrophy of retinal pigment epithelium"],[7649]],[11529,"Multiple congenital hypertrophy of retinal pigment epithelium",["Multiple bilateral CHRPE","Multiple bilateral congenital hypertrophy of retinal pigment epithelium"],[7649]],[11530,"Retinal hole",["Retinal holes"],[11958]],[11531,"Vitritis",["Hyalitis","Vitreitis"],[4327]],[11532,"Subretinal exudate",[],[1147]],[11533,"Snowflake vitreoretinal degeneration",["Snowflake retinal degeneration"],[7769,7773]],[11534,"Abnormal spatial orientation of the cardiac segments",[],[1627]],[11535,"Abnormal atrial arrangement",["Abnormal location of heart atrium"],[5120,11534]],[11536,"Right atrial isomerism",[],[11535,31855]],[11537,"Left atrial isomerism",[],[11535,31854]],[11538,"Atrial situs inversus",[],[11535]],[11539,"Atrial situs ambiguous",["Atrial heterotaxy","Atrial situs ambiguus"],[11535]],[11540,"Levotransposition of the great arteries",["Atrioventricular and ventriculo-arterial discordance","Congenitally corrected TGA","Congenitally corrected transposition of the great arteries","Discordant atrioventricular a ventriculo-arterial connections","L-TGA","L-transposition of the great arteries","Physiologically corrected transposition of the great vessels","cTGA","cTGV","ccTGA","ccTGV","L-transposition","Ventricular inversion"],[1669,11534]],[11541,"Criss-cross atrioventricular valves",[],[11534]],[11542,"Criss-cross atrioventricular valves with superior-inferior ventricles",[],[11541]],[11543,"Superior-inferior ventricles without criss-cross atrioventricular valves",[],[11534]],[11544,"L-looping of the right ventricle",[],[11534]],[11545,"Abnormal connection of the cardiac segments",["Abnormal connexion of the cardiac segments","Discordant connection of the cardiac segments"],[1627]],[11546,"Abnormal atrioventricular connection",["Abnormal atrioventricular connexion"],[11545]],[11547,"Absent left sided atrioventricular connection",["Absent left sided atrioventricular connexion"],[11546]],[11548,"Absent right sided atrioventricular connection",["Absent right sided atrioventricular connexion"],[11546]],[11549,"Univentricular heart with absent left sided atrioventricular connection",["Univentricular heart with absent left sided atrioventricular connexion"],[11547]],[11550,"Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection",[],[11547]],[11551,"Right sided atrium to left ventricle and absent left sided atrioventricular connection",["Right sided atrium to left ventricle and absent left sided atrioventricular connexion"],[11547]],[11552,"Ambiguous atrioventricular connection",["Ambiguous atrioventricular connexion"],[11546]],[11553,"Discordant atrioventricular connection",["Discordant atrioventricular connexion"],[11546]],[11554,"Double inlet atrioventricular connection",["Double inlet atrioventricular connexion"],[11546]],[11555,"Double inlet left ventricle",[],[1750,11554]],[11556,"Double inlet right ventricle",[],[1750,11554]],[11557,"Double inlet to single ventricle of indeterminate morphology",[],[1750,11554]],[11558,"Double inlet to single ventricle with common atrioventricular orifice",[],[11557]],[11559,"Double inlet to single ventricle with two atrioventricular valves",[],[11557]],[11560,"Mitral atresia",["Mitral valve atresia"],[1633,11546]],[11561,"Overriding atrioventricular valve",[],[11546]],[11562,"Straddling atrioventricular valve",[],[11546]],[11563,"Abnormal ventriculoarterial connection",["Abnormal ventriculo-arterial connection","Abnormal ventriculoarterial connexion"],[11545]],[11564,"Mitral valve arcade",["Hammock mitral valve"],[1633]],[11565,"Common atrium",["Single atrium"],[5120]],[11566,"Cor triatriatum dexter",["Cor triatriatum dextrum"],[10774]],[11567,"Sinus venosus atrial septal defect",[],[1631]],[11568,"Double orifice mitral valve",[],[1633]],[11569,"Cleft anterior mitral valve leaflet",[],[31480]],[11570,"Congenital mitral stenosis",[],[1718]],[11571,"Parachute mitral valve",[],[25523]],[11572,"Supramitral ring",["Membranous supravalvular mitral stenosis","Supravalvular mitral ring"],[1633]],[11573,"Hypoplastic tricuspid valve",["Tricuspid valve hypoplasia","Underdeveloped tricuspid valve"],[1702]],[11574,"Imperforate atrioventricular valve",["Unopened atrioventricular valve"],[6705]],[11575,"Imperforate tricuspid valve",["Unopened tricuspid valve"],[1702,11574]],[11576,"Intermediate atrioventricular canal defect",["Intermediate atrioventricular septal defect"],[6695]],[11577,"Partial atrioventricular canal defect",["Incomplete AVSD","Incomplete atrioventricular septal defect","PAVSD","Partial AVC defect","Partial AVSD","Partial atrioventricular septal defect"],[6695]],[11578,"Transitional atrioventricular canal defect",[],[6695]],[11579,"Unbalanced atrioventricular canal defect",["AVC defect unbalanced","AVC unbalanced","Unbalanced AVC","Unbalanced AVC defect","Unbalanced AVSD","Unbalanced atrioventricular septal defect"],[6695]],[11580,"Short chordae tendineae of the mitral valve",[],[25523]],[11581,"Double outlet left ventricle",[],[1711]],[11582,"Abdominal ectopia cordis",[],[1683]],[11583,"Cervical ectopia cordis",[],[1683]],[11584,"Thoracocervical ectopia cordis",[],[1683]],[11585,"Thoracic ectopia cordis",[],[1683]],[11586,"Thoracoabdominal ectopia cordis",[],[1683]],[11587,"Abnormal branching pattern of the aortic arch",[],[12303]],[11588,"Cervical aortic arch",[],[11587]],[11589,"Common origin of the right brachiocephalic artery and left common carotid artery",["Common brachiocephalic trunk","Bovine arch","Ovine arch"],[11587]],[11590,"Double aortic arch",[],[11587]],[11591,"Left aortic arch with cervical origin of the right subclavian artery",[],[31055]],[11592,"Left aortic arch with isolated subclavian artery",[],[31055]],[11593,"Left aortic arch with retroesophageal diverticulum of Kommerell",["Kommerell diverticulum"],[31055]],[11594,"Right aortic arch with retroesophageal diverticulum of Kommerell",[],[12020]],[11595,"Left aortic arch with retroesophageal right subclavian artery",[],[31055]],[11596,"Left aortic arch with right descending aorta and right ductus arteriosus",[],[31055]],[11597,"Right aortic arch with left descending aorta and left ductus arteriosus",[],[12020]],[11598,"Right aortic arch with retroesophageal left subclavian artery",["Right aortic arch with aberrant left subclavian artery","Right aortic arch with anomalous left subclavian artery"],[12020]],[11599,"Mesocardia",[],[4307]],[11600,"Abnormal direction of ventricular apex",[],[4307]],[11601,"Rightward direction of ventricular apex",[],[11600]],[11602,"Midline direction of ventricular apex",[],[11600]],[11603,"Congenital malformation of the great arteries",[],[30962]],[11604,"Aortopulmonary window",[],[11603]],[11608,"Type II truncus arteriosus",["Persistent truncus arteriosus type II","Type 2 truncus arteriosus"],[1660]],[11609,"Type III truncus arteriosus",["Persistent truncus arteriosus type III","Type 3 truncus arteriosus"],[1660]],[11610,"Type IV truncus arteriosus",["Persistent truncus arteriosus type IV","Type 4 truncus arteriosus"],[1660]],[11611,"Interrupted aortic arch",["Atretic transverse aortic arch","Aortic arch obstruction"],[12303]],[11612,"Interrupted aortic arch type A",[],[11611]],[11613,"Interrupted aortic arch type B",["Interrupted aortic arch, type b"],[11611]],[11614,"Interrupted aortic arch type C",[],[11611]],[11615,"Abnormal pulmonary situs morphology",["Abnormality of pulmonary situs"],[4000059]],[11616,"Pulmonary situs inversus",[],[11615]],[11617,"Pulmonary situs ambiguus",[],[11615]],[11618,"Pulmonary situs ambiguus with bilateral morphologic right lungs",[],[11617]],[11619,"Pulmonary situs ambiguus with bilateral morphologic left lungs",[],[11617]],[11620,"Abnormality of abdominal situs",[],[2012,30853]],[11621,"Gerbode ventricular septal defect",["Left ventricular - right atrial communication"],[1629]],[11622,"Inlet ventricular septal defect",["Atrioventricular canal type ventricular septal defect","Type 3 ventricular septal defect"],[1629]],[11623,"Muscular ventricular septal defect",["Type 4 ventricular septal defect","Ventricular septal defect, muscular"],[1629]],[11624,"Apical muscular ventricular septal defect",[],[11623]],[11625,"Multiple muscular ventricular septal defects",["Swiss cheese ventricular septal defect"],[11623]],[11626,"Scimitar anomaly",["Pulmonary venolobar syndrome","Scimitar syndrome"],[10773]],[11627,"Aorto-ventricular tunnel",[],[1679]],[11628,"Congenital defect of the pericardium",[],[1697]],[11629,"Total absence of the pericardium",["Absent pericardium","Congenital absence of the pericardium"],[11628]],[11630,"Complete diaphragmatic absence of pericardium",[],[11628]],[11631,"Complete right sided absence of pericardium",[],[11628]],[11632,"Partial right sided absence of pericardium",[],[11628]],[11633,"Complete left sided absence of pericardium",["Absent lining around of left side of heart"],[11628]],[11634,"Partial left sided absence of pericardium",[],[11628]],[11635,"Partial diaphragmatic absence of pericardium",[],[11628]],[11636,"Abnormal coronary artery origin",[],[6704]],[11637,"Anomalous origin of coronary artery from the pulmonary artery",[],[11636]],[11638,"Anomalous origin of left coronary artery from the pulmonary artery",["ALCAPA","Anomalous left coronary artery from the pulmonary artery","Bland-Garland-White syndrome"],[11637]],[11639,"Anomalous origin of right coronary artery from the pulmonary artery",[],[11637]],[11640,"Single coronary artery origin",[],[11636]],[11641,"Coronary artery fistula",["Coronary fistula"],[11686]],[11642,"Abnormal coronary sinus morphology",["Abnormality of the coronary sinus"],[5120]],[11643,"Coronary sinus atrial septal defect",["Unroofed coronary sinus"],[1631,11642]],[11644,"Coronary sinus diverticulum",["Diverticulum of the coronary sinus"],[11642]],[11645,"Dilatation of the sinus of Valsalva",["Aortic sinus aneurysm","Aneurysm of the aortic sinus","Sinus of Valsalva aneurysm"],[4970]],[11646,"Juxtaductal coarctation of the aorta",[],[12305]],[11647,"Postductal coarctation of the aorta",["Postductal aortic coarctation"],[12305]],[11648,"Patent ductus arteriosus after birth at term",[],[1643]],[11649,"Patent ductus arteriosus after premature birth",[],[1643]],[11650,"Bilateral ductus arteriosus",["Bilateral ductus botalli"],[1643]],[11651,"Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis",["DORV with doubly committed VSD and pulmonary stenosis"],[1719]],[11652,"Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis",["DORV with doubly committed VSD","Double outlet right ventricle, doubly committed ventricular septal defect"],[1719]],[11653,"Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis",["DORV with non-committed VSD and pulmonary stenosis"],[1719]],[11654,"Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis",["DORV with non-committed VSD without pulmonary stenosis","Double outlet right ventricle, noncommitted ventricular septal defect"],[1719]],[11655,"Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis",["DORV with subaortic VSD and pulmonary stenosis"],[1719]],[11656,"Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis",["DORV with subaortic VSD without pulmonary stenosis"],[1719]],[11657,"Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis",["DORV with subpulmonary VSD and pulmonary stenosis"],[1719]],[11658,"Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis",["DORV with subpulmonary VSD without pulmonary stenosis","Taussig-Bing anomaly"],[1719]],[11659,"Tetralogy of Fallot with absent pulmonary valve",["Tetralogy of Fallot with absent pulmonary valve syndrome"],[1636,5134]],[11660,"Anomalous origin of one pulmonary artery from ascending aorta",["Hemitruncus"],[30966]],[11661,"Anomalous origin of left pulmonary artery from ascending aorta",[],[11660]],[11662,"Tricuspid atresia",["Tricuspid valve atresia"],[1702]],[11663,"Right ventricular cardiomyopathy",["Cardiomyopathy, right ventricular","Cardiomyopathy, esp. right ventricular"],[1638,1707]],[11664,"Left ventricular noncompaction cardiomyopathy",["Left ventricular non-compaction cardiomyopathy"],[12817]],[11665,"Takotsubo cardiomyopathy",["Broken-heart syndrome"],[1638]],[11666,"Absent right superior vena cava",[],[5301]],[11667,"Bilateral superior vena cava with bridging vein",[],[33379]],[11668,"Bilateral superior vena cava with no bridging vein",[],[33379]],[11669,"Left superior vena cava draining directly to the left atrium",[],[33379]],[11670,"Left superior vena cava draining to coronary sinus",[],[33379]],[11671,"Interrupted inferior vena cava with azygous continuation",[],[25576]],[11672,"Cardiac myxoma",[],[100544]],[11673,"Cardiac hemangioma",[],[410266]],[11674,"Cardiac teratoma",[],[9792,100544]],[11675,"Arrhythmia",["Abnormal heart rate","Arrhythmias","Cardiac arrhythmia","Cardiac arrhythmias","Cardiac rhythm disturbances","Heart rhythm disorders","Irregular heart beat","Irregular heartbeat"],[30956]],[11676,"Tetralogy of Fallot with absent subarterial conus",[],[1636]],[11677,"Tetralogy of Fallot with atrioventricular canal defect",[],[1636]],[11678,"Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries",[],[12516]],[11679,"Tetralogy of Fallot with pulmonary stenosis",[],[1636]],[11680,"Single ventricle of indeterminate morphology",[],[1750]],[11681,"Subarterial ventricular septal defect",["Conal ventricular septal defect","Doubly committed ventricular septal defect","Infundibular ventricular septal defect","Supracristal ventricular septal defect","Type 1 ventricular septal defect"],[1629]],[11682,"Perimembranous ventricular septal defect",["Conoventricular ventricular septal defect","Membranous ventricular septal defect","Paramembranous ventricular septal defect","Perimembraneous ventricular septal defect","Type 2 ventricular septal defect","Ventricular septal defect, perimembranous"],[1629]],[11683,"Restrictive ventricular septal defect",[],[1629]],[11684,"Non-restrictive ventricular septal defect",[],[1629]],[11685,"Infra-aortic superior vena cava",[],[25575]],[11686,"Abnormal coronary artery course",["Anomalous coronary artery course"],[6704]],[11687,"AV nodal tachycardia",["Atrioventricular nodal tachycardia"],[4755]],[11688,"Supraventricular tachycardia with an accessory connection mediated pathway",["Atrioventricular re-entry tachycardia","Supraventricular tachycardia with an accessory connexion mediated pathway"],[4755]],[11689,"Supraventricular tachycardia with a concealed accessory connection",["Supraventricular tachycardia with a concealed accessory connexion"],[11688]],[11690,"Permanent junctional reciprocating tachycardia",[],[11689]],[11691,"Supraventricular tachycardia with a concealed accessory pathway on the left free wall",[],[11689]],[11692,"Supraventricular tachycardia with a concealed accessory pathway on the right free wall",[],[11689]],[11693,"Supraventricular tachycardia with a concealed accessory pathway on the septum",[],[11689]],[11694,"Supraventricular tachycardia with a manifest accessory pathway",[],[11688]],[11695,"Cerebellar hemorrhage",["Cerebellar haemorrhage"],[2170]],[11696,"Supraventricular tachycardia with a manifest accessory pathway on the left free wall",[],[11694]],[11697,"Supraventricular tachycardia with a manifest accessory pathway on the right free wall",[],[11694]],[11698,"Supraventricular tachycardia with a manifest accessory pathway on the septum",[],[11694]],[11699,"Atrial reentry tachycardia",[],[1692]],[11700,"Automatic atrial tachycardia",[],[1692]],[11701,"Multifocal atrial tachycardia",["Chaotic atrial tachycardia","Ectopic atrial tachycardia"],[1692]],[11702,"Abnormal electrophysiology of sinoatrial node origin",[],[11675]],[11703,"Sinus tachycardia",["Sinus tach","Sinus tachy"],[1649,11702]],[11704,"Sick sinus syndrome",["Sinoatrial node disease"],[11702,12722]],[11705,"First degree atrioventricular block",[],[1678]],[11706,"Second degree atrioventricular block",[],[1678]],[11707,"Mobitz I atrioventricular block",["Mobitz type 1 atrioventricular block","Wenckebach block"],[11706]],[11708,"Mobitz II atrioventricular block",["Mobitz type 2 atrioventricular block"],[11706]],[11709,"Atrioventricular dissociation",[],[5150]],[11710,"Bundle branch block",["Bundle-branch block"],[12722]],[11711,"Left anterior fascicular block",["Left anterior hemiblock"],[11713]],[11712,"Complete right bundle branch block",["Right bundle branch block","Right bundle-branch block"],[11710]],[11713,"Left bundle branch block",[],[11710]],[11714,"Libman-Sacks lesions",[],[100584]],[11715,"Trifascicular block",[],[11710]],[11716,"Junctional ectopic tachycardia",[],[11687]],[11717,"Atrioventricular reentrant tachycardia",["AV nodal reentry tachycardia"],[11687]],[11718,"Abnormality of the pulmonary veins",["Abnormality of lung veins"],[4930]],[11719,"Supracardiac total anomalous pulmonary venous connection",["Supracardiac total anomalous pulmonary venous connexion","Total anomalous pulmonary venous connection, supracardiac","Type 1 total anomalous pulmonary venous connection"],[5160]],[11720,"Cardiac total anomalous pulmonary venous connection",["Cardiac total anomalous pulmonary venous connexion","Total anomalous pulmonary venous connection, intracardiac","Type 2 total anomalous pulmonary venous connection"],[5160]],[11721,"Infracardiac total anomalous pulmonary venous connection",["Infracardiac total anomalous pulmonary venous connexion","Type 3 total anomalous pulmonary venous connection"],[5160]],[11722,"Mixed total anomalous pulmonary venous connection",["Mixed total anomalous pulmonary venous connexion","Total anomalous pulmonary venous connection, mixed","Type 4 total anomalous pulmonary venous connection"],[5160]],[11723,"Congenital malformation of the right heart",[],[1627]],[11724,"Uhl's anomaly",[],[11723]],[11725,"Chaotic multifocal atrial tachycardia",[],[1692]],[11726,"Persistent fetal circulation",["Persistent foetal circulation"],[34190]],[11727,"Peroneal muscle weakness",["Fibularis muscle weakness"],[9053]],[11728,"Elbow clonus",[],[2169]],[11729,"Abnormality of joint mobility",[],[34430]],[11730,"Abnormal central sensory function",["Abnormality of central sensory function"],[12638]],[11731,"Abnormality of circulating cortisol level",[],[12111]],[11732,"Abnormal adrenal morphology",["Abnormality of adrenal morphology"],[834,31071]],[11733,"Abnormality of adrenal physiology",[],[834]],[11734,"Central adrenal insufficiency",["Secondary adrenal insufficiency"],[846]],[11735,"Adrenocorticotropin deficient adrenal insufficiency",["ACTH deficient adrenal insufficiency"],[11734]],[11736,"Primary hyperaldosteronism",[],[859]],[11737,"Corticotropin-releasing hormone deficient adrenal insufficiency",["CRH deficient adrenal insufficiency","Tertiary adrenal insufficiency"],[11734]],[11738,"Corticotropin-releasing hormone receptor defect",["CRHR defect","Corticotropin-releasing hormone receptor (CRHR) resistance"],[11734]],[11739,"Dexamethasone-suppressible primary hyperaldosteronism",["Familial primary hyperaldosteronism type 1","Glucocorticoid-remediable familial primary aldosteronism"],[11736]],[11740,"Glucocortocoid-insensitive primary hyperaldosteronism",["Familial primary hyperaldosteronism type 2"],[11736]],[11741,"Secondary hyperaldosteronism",["Hyperreninemic hyperaldosteronism"],[859]],[11742,"Ectopic adrenal gland",["Abnormal adrenal gland position"],[11732]],[11743,"Adrenal gland agenesis",["Adrenal agenesis","Congenital absence of the adrenal glands"],[8216]],[11744,"Secondary hypercortisolism",["ACTH-dependent hypercortisolemia"],[3118]],[11745,"Non-secretory adrenocortical adenoma",["Non-secretory adrenal adenoma"],[8256]],[11746,"Secretory adrenocortical adenoma",["Secretory adrenal adenoma"],[8256]],[11747,"Abnormality of the anterior pituitary",["Pituitary disease"],[12503]],[11748,"Adrenocorticotropic hormone deficiency",["ACTH deficiency","Corticotropin deficiency"],[830]],[11749,"Adrenocorticotropic hormone excess",["ACTH excess"],[10514]],[11750,"Neoplasm of the anterior pituitary",["Neoplasm of the adenohypophysis","Neoplasm of the pars anterior"],[11747,40277]],[11751,"Abnormal posterior pituitary morphogenesis",["Abnormality of the neurohypophysis","Abnormality of the posterior pituitary"],[12503]],[11752,"Neoplasm of the posterior pituitary",["Neoplasm of the neurohypophysis"],[11751]],[11753,"Posterior pituitary dysgenesis",["Neurohypophysis dysplasia","Posterior pituitary dysplasia"],[11751]],[11754,"Pituicytoma",[],[11752]],[11755,"Ectopic posterior pituitary",["Ectopic neurohypophysis","Ectopic posterior pituitary lobe"],[11753]],[11756,"Posterior pituitary agenesis",["Neurohypophysis agenesis"],[11753]],[11757,"Posterior pituitary hypoplasia",["Neurohypophysis hypoplasia"],[11753]],[11758,"Pituitary acidophilic stem cell adenoma",[],[2893]],[11759,"Pituitary gonadotropic cell adenoma",["Pituitary gonadotropinoma"],[2893]],[11760,"Pituitary growth hormone cell adenoma",["Pituitary somatotropinoma"],[2893]],[11761,"Pituitary null cell adenoma",["Clinically silent pituitary adenoma","Hormonally silent pituitary adenoma","Non-functional pituitary adenoma","Silent pituitary adenoma"],[2893]],[11762,"Pituitary thyrotropic cell adenoma",["Pituitary thyrotropinoma"],[2893]],[11763,"Pituitary carcinoma",[],[11750]],[11764,"Pituitary spindle cell oncocytoma",[],[11750]],[11766,"Abnormal parathyroid morphology",["Abnormality of the parathyroid morphology"],[828]],[11767,"Abnormality of the parathyroid physiology",["Parathyroid issue","Parathyroid dysfunction"],[828]],[11768,"Parathyroid dysgenesis",[],[11766]],[11769,"Ectopic parathyroid",[],[11768]],[11770,"Tertiary hyperparathyroidism",[],[843]],[11771,"Autoimmune hypoparathyroidism",[],[829,2960]],[11772,"Abnormal thyroid morphology",["Abnormal shape of thyroid gland","Abnormality of thyroid morphology"],[820]],[11773,"Uninodular goiter",["Uninodular goitre"],[5994]],[11774,"Thyroid follicular adenoma",[],[854]],[11775,"Thyroid macrofollicular adenoma",[],[11774]],[11776,"Thyroid microfollicular adenoma",[],[11774]],[11777,"Thyroid papillary adenoma",[],[854]],[11778,"Thyroid atypical adenoma",[],[854]],[11779,"Anaplastic thyroid carcinoma",[],[2890]],[11780,"Thyroid hemiagenesis",[],[33079]],[11781,"Thyroid C cell hyperplasia",[],[8249]],[11782,"Thyroid crisis",[],[836]],[11783,"Thyrotoxicosis from ectopic thyroid tissue",[],[836]],[11784,"Thyrotoxicosis with diffuse goiter",[],[836]],[11785,"Thyrotoxicosis with toxic multinodular goiter",["Thyrotoxicosis with toxic multinodular goitre"],[836]],[11786,"Thyrotoxicosis with toxic single thyroid nodule",[],[836]],[11787,"Central hypothyroidism",[],[821]],[11788,"Increased circulating free T3",["Increased circulating free triiodothyronine","Increased serum fT3","Increased serum free T3","Increased serum free triiodothyronine"],[32209]],[11789,"Impaired sensitivity to thyroid stimulating hormone",["TSHR defect","Thyroid-stimulating hormone receptor defect"],[2926]],[11790,"Activating thyroid-stimulating hormone receptor defect",["Activating TSHR defect"],[11789]],[11791,"Inactivating thyroid-stimulating hormone receptor defect",["Inactivating TSHR defect"],[11789]],[11792,"Neoplasm by histology",[],[2664]],[11793,"Neoplasm by anatomical site",[],[2664]],[11794,"Embryonal renal neoplasm",[],[2898,9726]],[11795,"Intralobar nephroblastomatosis",[],[8643]],[11796,"Perilobar nephroblastomatosis",[],[8643]],[11797,"Papillary renal cell carcinoma type 1",[],[6766]],[11798,"Renal oncocytoma",[],[9726]],[11799,"Abnormality of facial soft tissue",["Anomaly of facial soft tissue","Deformity of facial soft tissue","Malformation of facial soft tissue"],[271]],[11800,"Midface retrusion",["Small midface","Decreased size of midface","Flat midface","Hypoplasia of midface","Midface deficiency","Midface hypoplasia","Midface, flat","Retrusive midface","Underdevelopment of midface","Decreased projection of midface","Hypotrophic midface"],[309]],[11801,"Enlargement of parotid gland",["Hyperplasia of parotid gland","Increased size of parotid gland","Hypertrophy of parotid gland"],[197]],[11802,"Hamartoma of tongue",["Lingual hamartoma"],[100648]],[11803,"Bifid nose",["Bifid nasal bridge","Indentation or clefting of the nose","Cleft nasal bridge","Cleft nose","Indented bridge of nose"],[4122]],[11804,"Abnormal muscle physiology",["Abnormality of muscle physiology","Issue with muscle function"],[3011]],[11805,"Abnormal skeletal muscle morphology",["Abnormal muscle morphology","Abnormality of muscle morphology","Abnormally shaped muscle","Issue with muscle structure"],[3011]],[11807,"Type 1 muscle fiber atrophy",["Type 1 muscle fibre atrophy"],[100295]],[11808,"Decreased patellar reflex",["Decreased knee jerk reflex","Decreased patellar reflexes"],[2600]],[11809,"Paradoxical myotonia",[],[2486]],[11810,"Impaired two-point discrimination",[],[11730]],[11811,"Impaired touch localization",["Impaired topognosis","Impaired touch localisation"],[11730]],[11812,"Agraphesthesia",[],[11730]],[11813,"Increased cerebral lipofuscin",[],[7367]],[11814,"Increased urinary hypoxanthine level",[],[40425]],[11815,"Cephalocele",[],[929]],[11816,"Parietal encephalocele",[],[2084]],[11817,"Basal encephalocele",[],[2084]],[11818,"Nasofrontal encephalocele",["Naso-frontal encephalocele"],[7330]],[11819,"Submucous cleft soft palate",["Partial thickness cleft soft palate","Submucous cleft velum"],[185,5201016]],[11820,"Membranous choanal atresia",[],[453]],[11821,"Abnormal facial skeleton morphology",["Abnormality of facial skeleton","Anomaly of facial skeleton","Abnormality of facial bones","Anomaly of facial bones","Deformity of facial skeleton","Deformity of the facial bones","Malformation of facial bones","Malformation of facial skeleton"],[929]],[11822,"Broad chin",["Increased width of chin","Increased width of menton region","Wide chin"],[306]],[11823,"Chin with horizontal crease",["Chin with horizontal furrow","Chin with horizontal groove","Chin with horizontal sulcus","Horizontal chin skin cleft","Horizontal menton crease"],[306]],[11824,"Chin with H-shaped crease",["Chin, H-Shaped Crease","Chin, H-shaped groove","H shaped chin dimple","H-shaped dimple of the chin"],[306]],[11825,"Tented philtrum",["Philtrum, Tented"],[288]],[11826,"Philtrum with midline raphe",["Philtrum with central raphe","Philtrum with midline ridge","Philtrum, midline raphe"],[288]],[11827,"Malaligned philtral ridges",["Asymmetric philtral columns","Asymmetric philtral ridges","Malaligned philtral columns","Philtral Ridges, Malaligned"],[288]],[11828,"Midline sinus of philtrum",["Central sinus of philtrum","Philtrum, Midline Sinus"],[288]],[11829,"Narrow philtrum",["Decreased breadth of philtrum","Decreased horizontal dimension of philtrum","Decreased transverse dimension of philtrum","Decreased width of philtrum","Philtrum, Narrow","Thin philtrum"],[288]],[11830,"Abnormal oral mucosa morphology",["Abnormality of lining of mouth","Abnormality of mucosa of mouth","Abnormality of oral mucosa","Abnormality of oral mucous membrane"],[163]],[11831,"Deviated nasal tip",["Asymmetry of nasal tip","Asymmetry of tip of nose","Crooked nasal tip","Crooked tip of nose","Deviated tip of nose","Nasal tip, deviated","Distortion of the nasal tip"],[436]],[11832,"Narrow nasal tip",["Narrow tip of nose","Nasal tip, narrow","Nasal tip, pinched","Pinched nasal tip","Pinched tip of nose","Thin nasal tip","Thin tip of nose"],[436]],[11833,"Overhanging nasal tip",["Drooping nasal tip","Hooked tip of nose","Low hanging nasal tip","Nasal tip, overhanging"],[436]],[11834,"Moyamoya phenomenon",[],[9145]],[11835,"Absent scaphoid",["Missing scaphoid bone","Absent scaphoid bone"],[4231]],[11836,"Delayed talus ossification",[],[8365,8369]],[11838,"Sclerodactyly",[],[1072]],[11839,"Abnormal total T cell number",["Abnormal T cell count","Abnormal number of T cells","Abnormality of T cell number"],[2843,40088]],[11840,"Abnormal T cell physiology",["Abnormality of T cell physiology","Impaired T cell function"],[31409]],[11841,"Ventricular flutter",[],[31676]],[11842,"Abnormal skeletal morphology",["Abnormality of skeletal morphology","Abnormally shaped skeletal"],[924]],[11843,"Abnormal musculoskeletal physiology",["Abnormality of musculoskeletal physiology"],[33127]],[11844,"Abnormal appendicular skeleton morphology",[],[11842]],[11845,"Short second metatarsal",["Short 2nd long bone of foot"],[10743,40034]],[11846,"Osteoblastoma",[],[10622]],[11847,"Giant cell tumor of bone",["Giant cell tumour of bone"],[10622]],[11848,"Abdominal colic",[],[2027]],[11849,"Abnormal bone ossification",["Abnormal bone maturation"],[3330]],[11850,"Parotitis",[],[197]],[11851,"Hemopericardium",[],[1698]],[11852,"Chylopericardium",[],[1698]],[11853,"Serous pericardial effusion",[],[1698]],[11854,"Hemoperitoneum",["Hematoperitoneum"],[2585]],[11855,"Pharyngeal edema",["Pharyngeal oedema","Swollen throat","Throat swelling"],[969,33151]],[11856,"Pica",[],[100738]],[11857,"Plasmacytoma",[],[4377]],[11858,"Reduced factor IX activity",["Low factor IX activity"],[33062]],[11859,"Punctate keratitis",[],[491]],[11860,"Metaphyseal dappling",["Dappled metaphyseal sclerosis"],[4979]],[11861,"Bilateral trilobed lung",["Bilateral trilobed lungs"],[2101]],[11862,"Abnormal bone collagen fibril morphology",[],[3330]],[11863,"Abnormal sternal ossification",["Abnormal maturation of breastbone","Sternal ossification center abnormalities","Sternal ossification centre abnormalities"],[766,3336]],[11864,"Elevated plasma pyrophosphate",[],[100529]],[11867,"Abnormal iliac wing morphology",["Abnormality of the wing of the ilium"],[2867]],[11868,"Sciatica",[],[3418]],[11869,"Abnormal platelet function",[],[1872]],[11870,"Impaired arachidonic acid-induced platelet aggregation",[],[3540]],[11871,"Impaired ristocetin-induced platelet aggregation",[],[3540,12146]],[11872,"Impaired thrombin-induced platelet aggregation",[],[3540]],[11873,"Abnormal platelet count",[],[11875]],[11874,"Heparin-induced thrombocytopenia",[],[1873]],[11875,"Abnormal platelet morphology",["Abnormal shape of platelets"],[1872]],[11876,"Abnormal platelet volume",[],[11875]],[11877,"Increased mean platelet volume",["Large platelets"],[11876]],[11878,"Abnormal platelet membrane protein expression",[],[11869]],[11879,"Decreased platelet glycoprotein Ib-IX-V",[],[11878]],[11880,"Acute disseminated intravascular coagulation",[],[5521]],[11881,"Decreased platelet glycoprotein VI",[],[11878]],[11882,"Decreased platelet P2Y12 receptor",[],[11878]],[11883,"Abnormal platelet granules",[],[11875]],[11884,"Abnormal umbilical stump bleeding",[],[1892]],[11885,"Hemorrhage of the eye",["Bleeding from the eye","Haemorrhage of the eye"],[11029,12373]],[11886,"Hyphema",[],[11885]],[11887,"Choroid hemorrhage",["Choroid haemorrhage","Choroidal haemorrhage","Choroidal hemorrhage"],[11885]],[11888,"Bleeding requiring red cell transfusion",[],[1892]],[11889,"Bleeding with minor or no trauma",["Easy bleeding"],[1892]],[11890,"Prolonged bleeding following procedure",[],[1892]],[11891,"Post-partum hemorrhage",["Bleeding post-delivery"],[11890]],[11892,"Decreased circulating vitamin K concentration",["Low levels of vitamin K"],[100831]],[11893,"Abnormal leukocyte count",["Abnormal white blood cell count"],[1881]],[11894,"Impaired thromboxane A2 agonist-induced platelet aggregation",[],[3540]],[11895,"Anemia due to reduced life span of red cells",["Anaemia due to reduced life span of red cells"],[1903]],[11896,"Subconjunctival hemorrhage",["Subconjunctival haemorrhage"],[11885]],[11897,"Increased total neutrophil count",["Increased blood neutrophil counts","Neutrophilia"],[11991]],[11898,"Abnormality of circulating fibrinogen",[],[10990]],[11899,"Hyperfibrinogenemia",[],[11898]],[11900,"Hypofibrinogenemia",["Low fibrinogen activity","Low fibrinogen level"],[11898]],[11901,"Dysfibrinogenemia",["Dysfibrinogenaemia"],[11898]],[11902,"Abnormal hemoglobin",["Abnormal Hb","Abnormal haemoglobin"],[1877]],[11903,"HbH hemoglobin",["Haemoglobin H","HbH haemoglobin","Hemoglobin H"],[11902]],[11904,"Persistence of hemoglobin F",["Increased haemoglobin F","Increased hemoglobin F","Persistence of HbF","Persistence of haemoglobin F"],[11902]],[11905,"Reduced hemoglobin A",["Reduced HbA","Reduced haemoglobin A"],[11902]],[11906,"Reduced beta/alpha synthesis ratio",[],[5560]],[11907,"Reduced alpha/beta synthesis ratio",[],[5560]],[11908,"Unilateral radial aplasia",[],[3974]],[11909,"Flattened metacarpal heads",["Flattened head of long bone of hand"],[5916]],[11910,"Shortening of all phalanges of fingers",["Shortening of all finger bones"],[9803]],[11911,"Abnormal metacarpophalangeal joint morphology",["Abnormality of metacarpophalangeal joint","Abnormality of the knuckle"],[5916]],[11912,"Abnormality of the glenoid fossa",[],[782,3043]],[11913,"Lumbar hypertrichosis",[],[998]],[11914,"Thoracic hypertrichosis",[],[998]],[11915,"Cardiovascular calcification",[],[10766,30680]],[11916,"Toe extensor amyotrophy",[],[1436]],[11917,"Short 5th toe",["Short fifth toe","Short little toe","Short pinkie toe","Short pinky toe"],[1831]],[11918,"Clinodactyly of the 4th toe",["Curvature of 4th toe","4th toe clinodactyly"],[1863,10338]],[11919,"Pleural empyema",["Pyothorax"],[2202]],[11920,"Transudative pleural effusion",[],[2202]],[11921,"Exudative pleural effusion",[],[2202]],[11922,"Abnormal activity of mitochondrial respiratory chain",[],[3287]],[11923,"Decreased activity of mitochondrial complex I",["Respiratory complex I deficiency"],[8972]],[11924,"Decreased activity of mitochondrial complex III",["Respiratory complex III deficiency"],[8972]],[11925,"Decreased activity of mitochondrial ATP synthase complex",["Decreased activity of mitochondrial complex V","Mitochondrial complex V deficiency","Respiratory complex deficiency, ATPase deficiency"],[8972]],[11926,"Proximal placement of hallux",["Proximal placement of big toe","Proximally placed halluces"],[10051]],[11927,"Short digit",["Very short digits"],[11297]],[11928,"Short proximal phalanx of toe",["Short innermost toe bone"],[1831,10184]],[11929,"Hypersegmentation of proximal phalanx of third finger",[],[9358]],[11930,"Hyperextensible skin of chest",["Hyperelastic chest skin","Stretchable chest skin"],[7458]],[11931,"Abnormal cerebellar peduncle morphology",["Abnormality of the cerebellar peduncle"],[1317,12501]],[11932,"Abnormal superior cerebellar peduncle morphology",["Abnormality of the superior cerebellar peduncle"],[7361,11931]],[11933,"Elongated superior cerebellar peduncle",["Long cerebellar peduncle","Long cerebellar peduncles","Elongated superior cerebellar peduncles"],[11932]],[11934,"Dilatation of mesenteric artery",["Mesenteric artery aneurysm"],[2636,20317]],[11935,"Decreased urinary urate",[],[12610]],[11936,"Decreased plasma total carnitine",[],[3234]],[11937,"Hypoplastic fifth toenail",["Small fifth toenail","Underdeveloped fifth toenail"],[1800]],[11939,"3-4 finger cutaneous syndactyly",[],[10554]],[11940,"Anterior wedging of T12",["Anterior wedging of the 12th thoracic vertebra","Wedge-shaped 12th thoracic vertebra"],[8422]],[11941,"Anterior wedging of L2",[],[8422]],[11942,"Increased urinary sulfite level",[],[33354]],[11943,"Increased urinary thiosulfate",[],[33354]],[11944,"Small vessel vasculitis",[],[34784]],[11945,"Bronchiolitis obliterans organizing pneumonia",["BOOP","Bronchiolitis obliterans organising pneumonia","Cryptogenic organising pneumonia","Cryptogenic organizing pneumonia"],[6530]],[11946,"Bronchiolitis obliterans",["Constrictive bronchiolitis","Obliterative bronchiolitis"],[6530]],[11947,"Respiratory tract infection",["Respiratory infection","Respiratory infections"],[2088]],[11948,"Recurrent acute respiratory tract infection",["Acute respiratory tract infection"],[2205]],[11949,"Acute infectious pneumonia",[],[2090]],[11950,"Unusual bronchiolitis",[],[5210123]],[11951,"Aspiration pneumonia",[],[2090]],[11952,"Acute aspiration pneumonia",[],[11951]],[11953,"Pulmonary lymphoma",[],[2665,100526]],[11954,"Nodular regenerative hyperplasia of liver",["Nodular transformation of liver","Noncirrhotic nodulation","Partial nodular transformation of liver"],[410042]],[11955,"Hepatic granulomatosis",[],[2955,410042]],[11956,"Intestinal lymphoid nodular hyperplasia",[],[2242]],[11957,"Abnormal pectoral muscle morphology",["Abnormal pec muscles"],[9131]],[11958,"Retinal perforation",["Retinal tear","Torn retina"],[479]],[11959,"Unilateral hypoplasia of pectoralis major muscle",["Small pec muscle on one side","Underdeveloped pec muscle on one side"],[11957]],[11960,"Substantia nigra gliosis",[],[2171,45007]],[11961,"Non-obstructive azoospermia",["Testicular azoospermia"],[27]],[11962,"Obstructive azoospermia",[],[27]],[11963,"Pretesticular azoospermia",[],[27]],[11964,"Intermittent painful muscle spasms",[],[3394]],[11965,"Abnormal circulating citrulline concentration",["Abnormal citrulline level"],[33109]],[11966,"Elevated circulating citrulline concentration",["Elevated citrulline concentration","Elevated citrulline level","Elevated citrulline level in blood","Increased citrulline concentration","Increased citrulline level","Increased citrulline level in blood"],[11965]],[11967,"Decreased circulating copper concentration",["Copper deficiency","Decreased copper cation concentration","Decreased copper cation level","Decreased copper cation level in blood","Hypocupremia","Reduced copper cation concentration","Reduced copper cation level","Reduced copper cation level in blood","Reduced serum copper"],[10836]],[11968,"Feeding difficulties",["Decreased oral intake","Feeding problems","Poor feeding"],[11458]],[11969,"Elevated circulating luteinizing hormone level",["Elevated LH level","Elevated luteinizing hormone","Increased circulating luteinizing hormone level"],[837,30345]],[11970,"Cerebral amyloid angiopathy",[],[20015]],[11971,"Dermatographic urticaria",["Dermatographism","Dermographism","Skin writing"],[410134]],[11972,"Hypoglycorrhachia",["Decreased CSF glucose","Low glucose levels in cerebral spinal fluid"],[31884]],[11973,"Paroxysmal lethargy",["Intermittent lack of energy"],[1254]],[11974,"Myelofibrosis",[],[12145]],[11975,"Aminoglycoside-induced hearing loss",[],[365]],[11976,"Elevated urinary catecholamine level",["Elevated urinary catecholamines"],[11281]],[11977,"Elevated urinary homovanillic acid",["Increased urinary homovanillic acid"],[40156]],[11978,"Elevated urinary vanillylmandelic acid",["Increased urinary vanillylmandelic acid"],[40156]],[11979,"Elevated urinary dopamine level",["Elevated urinary dopamine"],[11976]],[11980,"Cholesterol gallstones",[],[1081]],[11981,"Pigment gallstones",[],[1081]],[11982,"Black pigment gallstones",[],[11981]],[11983,"Brown pigment gallstones",[],[11981]],[11984,"Atretic gallbladder",["Gallbladder atresia"],[11466]],[11985,"Acholic stools",["Acholia","Clay colored stools","Clay coloured stools","Discolored, acholic stools"],[1396,31685]],[11986,"Ectopic ossification",["Ectopic bone formation","Heterotopic ossification"],[11849]],[11987,"Ectopic ossification in muscle tissue",["Calcification of muscle tissue"],[11986]],[11988,"Ectopic ossification in tendon tissue",[],[11986]],[11989,"Ectopic ossification in ligament tissue",[],[11986]],[11990,"Abnormal neutrophil physiology",["Abnormality of neutrophil physiology"],[1874,33796]],[11991,"Abnormal total neutrophil count",["Abnormal neutrophil cell number","Abnormal neutrophil count"],[11992,32309]],[11992,"Abnormal neutrophil morphology",["Abnormality of neutrophil morphology"],[1874]],[11993,"Impaired neutrophil bactericidal activity",[],[11990]],[11994,"Abnormal atrial septum morphology",["Abnormal interatrial septum morphology","Abnormality of the atrial septum"],[1671]],[11995,"Atrial septal dilatation",["Atrial septal aneurysm"],[11994]],[11996,"Elevated coagulation factor V activity",["Elevated factor V activity","Plasma factor V elevated"],[31899]],[11997,"Postprandial hyperlactemia",[],[2151]],[11998,"Postprandial hyperglycemia",[],[3074]],[11999,"Paranoia",[],[5200242]],[12000,"EEG with generalized spikes",["EEG with generalised spikes"],[11198]],[12001,"EEG with generalized polyspikes",["EEG with generalised polyspikes"],[11198]],[12002,"Experiential epileptic aura",["Experiential aura","Experiential auras"],[33346]],[12003,"Affective epileptic aura",["Affective aura","Affective auras","Emotional aura"],[33346]],[12004,"Focal cognitive seizure with deja vu/jamais vu",["Mnemonic aura","Mnemonic auras"],[12002,32680]],[12005,"Deja vu aura",["Deja vu"],[12004]],[12006,"Jamais vu aura",["Jamais vu"],[12004]],[12007,"Focal cognitive seizure with hallucination",["Hallucinatory aura","Hallucinatory auras"],[32680,33347]],[12008,"Focal cognitive seizure with illusion",["Illusory aura","Illusory auras"],[32680,33347]],[12009,"EEG with central focal spike waves",[],[11197,33718]],[12010,"EEG with frontal focal spike waves",[],[11197,33716]],[12011,"EEG with occipital focal spike waves",[],[11197,33720]],[12012,"EEG with parietal focal spike waves",[],[11197,33719]],[12013,"EEG with temporal focal spike waves",[],[11197,33717]],[12014,"EEG with central focal spikes",[],[11193,33718]],[12015,"EEG with frontal focal spikes",[],[11193,33716]],[12016,"EEG with occipital focal spikes",[],[11193,33720]],[12017,"EEG with parietal focal spikes",[],[11193,33719]],[12018,"EEG with temporal focal spikes",[],[11193,33717]],[12019,"Lens luxation",["Completely dislocated lens","Completely dislocated lenses"],[1083]],[12020,"Right aortic arch",["Right-sided aortic arch"],[11587]],[12021,"Persistent patent ductus venosus",[],[34190]],[12022,"Congenital portosystemic venous shunt",[],[34190]],[12023,"Galactosuria",["Increased urinary galactose level"],[31979]],[12024,"Hypergalactosemia",["Elevated circulating galactose concentration","Elevated galactose concentration","Elevated galactose level","Elevated galactose level in blood","Increased galactose concentration","Increased galactose level","Increased galactose level in blood","Galactosemia"],[20347]],[12025,"Abnormal circulating ornithine concentration",["Abnormal ornithine level"],[33109]],[12026,"Hyperornithinemia",["Elevated ornithine concentration","Elevated ornithine level","Elevated ornithine level in blood","High blood ornithine levels","Increased ornithine concentration","Increased ornithine level","Increased ornithine level in blood"],[12025]],[12027,"Laryngeal edema",["Laryngeal oedema"],[969,25423]],[12028,"Hepatocellular adenoma",["Hepatic adenoma","Liver cell adenoma"],[2896]],[12029,"Abnormal urine steroid level",["Abnormality of urine hormone level"],[33354]],[12030,"Increased urinary cortisol level",["High urine cortisol level"],[12029]],[12031,"Lipomatous tumor",["Lipomatous tumour"],[200013]],[12032,"Lipoma",["Fatty lump","Noncancerous fatty lump"],[12031]],[12033,"Sacral lipoma",[],[6000590]],[12034,"Liposarcoma",[],[12031]],[12035,"Steatocystoma multiplex",[],[8069]],[12036,"Sternocleidomastoid amyotrophy",[],[3202]],[12037,"Pectoralis amyotrophy",["Wasting of pec muscles"],[3202,11957]],[12038,"Corneal guttata",["Corneal endothelial guttata","Corneal guttae"],[11490]],[12039,"Descemet Membrane Folds",[],[11490]],[12040,"Corneal stromal edema",["Corneal stromal oedema"],[969,11492]],[12041,"Decreased fertility in males",[],[144]],[12042,"Aspirin-induced asthma",[],[2099]],[12043,"Pendular nystagmus",["Nystagmus, continuous pendular","Nystagmus, pendular"],[639]],[12044,"Seesaw nystagmus",[],[12043]],[12045,"Retinal flecks",[],[30506]],[12046,"Areflexia of upper limbs",[],[1284,2817]],[12047,"Hemeralopia",["Day blindness"],[504]],[12048,"Oromandibular dystonia",["Cranial dystonia"],[12179]],[12049,"Laryngeal dystonia",["Spasmodic dysphonia"],[1618,4373]],[12050,"Anasarca",["Extreme generalised oedema","Extreme generalized edema"],[7430]],[12051,"Reactive hypoglycemia",["Low blood sugar after a meal","Postprandial hypoglycemia"],[1943]],[12052,"Decreased circulating calcitriol concentration",["Low serum 1,25-dihydroxycholecalciferol","Low serum 1,25-dihydroxyvitamin D3","Low serum calcitriol"],[100511]],[12053,"Decreased circulating calcifediol concentration",["Decreased 25-hydroxyvitamin D3","Low serum 25-hydroxycholecalciferol","Low serum calcidiol","Low serum calcifediol"],[100511]],[12054,"Choroidal melanoma",[],[7716]],[12055,"Ciliary body melanoma",[],[7716,12776]],[12056,"Cutaneous melanoma",[],[2861,8069]],[12057,"Superficial spreading melanoma",[],[12056]],[12058,"Nodular melanoma",[],[12056]],[12059,"Lentigo maligna melanoma",[],[12056]],[12060,"Acral lentiginous melanoma",[],[12056]],[12061,"Urinary excretion of sialylated oligosaccharides",["Increased urinary sialyloligosaccharides"],[10471]],[12062,"Bone cyst",["Bone cysts"],[3330]],[12063,"Aneurysmal bone cyst",[],[12062]],[12064,"Unicameral bone cyst",[],[12062]],[12065,"Multiple bony cystic lesions",[],[12062]],[12066,"Increased urinary disaccharide excretion",[],[10471]],[12067,"Glycopeptiduria",["High urine glycopeptide levels"],[33354]],[12068,"Aspartylglucosaminuria",["High urine aspartylglucosamine levels"],[12067]],[12069,"Keratan sulfate excretion in urine",["Keratan sulphate excretion in urine"],[8155]],[12070,"Chondroitin sulfate excretion in urine",["Chondroitin sulphate excretion in urine"],[8155]],[12071,"Abnormal circulating fatty acylcarnitine concentration",["Abnormal circulating esterified carnitine concentration","Abnormal fatty acylcarnitine level","Abnormal acetylcarnitine profile"],[10966]],[12072,"Aciduria",["Acidic urine"],[32943]],[12073,"Abnormal urinary acylglycine profile",[],[33097]],[12074,"Tonic pupil",["Adie pupil","Adie's tonic pupil"],[7686]],[12075,"Personality disorder",[],[31466]],[12076,"Borderline personality disorder",["BPD","EUPD","Emotionally unstable personality disorder"],[12075]],[12077,"Histrionic personality disorder",[],[12075]],[12078,"Motor conduction block",[],[762,40131]],[12079,"Abnormality of central motor conduction",[],[11442]],[12080,"Cerebellar granular layer atrophy",[],[1272]],[12081,"Enlarged cerebellum",[],[1317]],[12082,"Cerebellar Purkinje layer atrophy",[],[1272]],[12083,"Ubiquitin-positive cerebral inclusion bodies",[],[100314]],[12084,"Abnormality of skeletal muscle fiber size",["Abnormality of skeletal muscle fibre size"],[4303]],[12085,"Pyuria",["High urine neutrophil count","Leukocyturia"],[12614]],[12086,"Abnormal urinary color",["Abnormal urine color","Abnormal urine colour"],[33072]],[12087,"Abnormal mitochondrial shape",[],[8322]],[12088,"Abnormal urinary odor",["Abnormal urine smell"],[33072]],[12089,"Arteritis",["Inflammation of artery"],[11004]],[12090,"Abnormal pancreas morphology",["Abnormality of pancreas morphology","Abnormally shaped pancreas"],[1732]],[12091,"Abnormality of pancreas physiology",[],[1732]],[12092,"Abnormality of exocrine pancreas physiology",["Abnormal exocrine pancreatic function"],[12091]],[12093,"Abnormality of endocrine pancreas physiology",[],[818,12091]],[12094,"Abnormal pancreas size",[],[12090]],[12095,"Multiple joint dislocation",["Multiple joint dislocations"],[1373]],[12096,"Intracranial epidermoid cyst",[],[10576]],[12097,"Intracranial dermoid cyst",[],[10576]],[12098,"Edema of the dorsum of feet",["Edema of dorsum of feet","Oedema of dorsum of feet","Oedema of the dorsum of feet"],[10741]],[12099,"Abnormal circulating catecholamine concentration",["Abnormal catecholamine level","Catecholamine levels abnormal"],[3117]],[12100,"Abnormal circulating creatinine concentration",["Abnormal blood creatinine level","Abnormal circulating creatinine level","Creatinine levels abnormal"],[4364]],[12101,"Decreased serum creatinine",["Low blood creatinine level","Reduced creatinine levels"],[12100]],[12102,"Abnormal mitochondrial number",[],[8322]],[12103,"Abnormality of the mitochondrion",["Mitochondrial abnormalities"],[11017]],[12104,"Parietal cortical atrophy",[],[2120]],[12105,"Occipital cortical atrophy",[],[2120]],[12106,"Rhizomelic leg shortening",[],[8905]],[12107,"Increased fibular diameter",["Thick fibula","Thick fibulae","Wide calf bone","Wide fibula"],[2991,5622]],[12108,"Open angle glaucoma",["Primary open angle glaucoma"],[501]],[12109,"Angle closure glaucoma",["Closed-angle glaucoma","Narrow angle glaucoma","Primary angle closure glaucoma"],[501]],[12110,"Hypoplasia of the pons",["Pontine hypoplasia"],[2977,7361]],[12111,"Abnormality of circulating glucocorticoid level",[],[3117]],[12112,"Abnormal circulating corticosterone level",["Abnormality of circulating corticosterone level"],[12111]],[12113,"Abnormal circulating creatine concentration",["Abnormal creatine level","Abnormality of creatine metabolism","Creatine metabolism abnormal"],[430071]],[12114,"Endometrial carcinoma",[],[10784,30126]],[12115,"Hepatitis",["Liver inflammation"],[12649,410042]],[12116,"Abnormal circulating albumin concentration",["Abnormal albumin level"],[10876]],[12117,"Hyperalbuminemia",["High albumin","Elevated albumin concentration","Elevated albumin level","Elevated albumin level in blood","High blood albumin levels","Hyperalbuminaemia","Increased albumin concentration","Increased albumin level","Increased albumin level in blood","Increased circulating abumin concentration"],[12116]],[12118,"Laryngeal carcinoma",["Cancer of the larynx","Laryngeal cancer"],[100605]],[12119,"Methemoglobinemia",[],[11902]],[12120,"Methylmalonic aciduria",["High blood methylmalonic acid levels","Methymalonicaciduria"],[3215]],[12121,"Panuveitis",[],[554]],[12122,"Anterior uveitis",[],[554]],[12123,"Posterior uveitis",["Choroiditis"],[554]],[12124,"Intermediate uveitis",[],[554]],[12125,"Prostate cancer",["Prostatic cancer"],[100787]],[12126,"Stomach cancer",["Gastric cancer"],[6753]],[12127,"Uraciluria",["High urine uracil levels"],[33162]],[12128,"Basal ganglia necrosis",[],[2134]],[12129,"Abnormality of bone marrow stromal cells",[],[5561]],[12130,"Abnormal erythroid lineage cell morphology",["Abnormality of cells of the erythroid lineage"],[5561]],[12131,"Abnormal number of erythroid precursors",[],[1877]],[12132,"Erythroid hyperplasia",["Bone marrow biopsy shows erythroid hyperplasia","Bone marrow smear shows erythroid hyperplasia"],[12131]],[12133,"Erythroid hypoplasia",["Erythroblastopenia","Erythroid hypoplasia in the bone marrow"],[12131]],[12134,"Dysplastic erythropoesis",[],[1877]],[12135,"Abnormal granulocytopoietic cell morphology",["Abnormality of cells of the granulocytic lineage"],[5561]],[12136,"Dysplastic granulopoesis",[],[12135]],[12137,"Abnormal number of granulocyte precursors",[],[12135]],[12138,"Granulocytic hyperplasia",[],[12137]],[12139,"Granulocytic hypoplasia",[],[12137]],[12142,"Pancreatic squamous cell carcinoma",["Squamous cell carcinoma of the pancreas"],[2894]],[12143,"Abnormal megakaryocyte morphology",["Abnormality of cells of the megakaryocyte lineage"],[5561]],[12144,"Abnormal monocyte morphology",[],[10974]],[12145,"Abnormality of multiple cell lineages in the bone marrow",[],[5561]],[12146,"Abnormality of von Willebrand factor",[],[3256]],[12147,"Reduced quantity of Von Willebrand factor",["Decreased von Willebrand factor"],[12146]],[12148,"Multiple lineage myelodysplasia",[],[2863]],[12149,"Bilineage myelodysplasia",[],[2863]],[12150,"Single lineage myelodysplasia",[],[2863]],[12151,"Hemothorax",[],[2103]],[12152,"Foveoschisis",["Retinoschisis involving the fovea"],[493,30502]],[12153,"Hypotriglyceridemia",["Decreased circulating Tg levels","Decreased plasma Tg levels","Decreased triglyceride concentration","Decreased triglyceride level","Decreased triglyceride level in blood","Low blood triglyceride levels","Reduced triglyceride concentration","Reduced triglyceride level","Reduced triglyceride level in blood"],[45014]],[12154,"Anhedonia",["Diminished capacity for joy","Loss of enjoyment","Reduced pleasure response","Anhedonic","Diminished pleasure response","Inability to experience pleasure","Loss of ability to enjoy things","Loss of interest in pleasurable activities"],[31467]],[12155,"Decreased corneal sensation",["Corneal hypaesthesia","Corneal hypesthesia","Reduced corneal sensation","Decreased corneal sensitivity"],[12373]],[12156,"Hemophagocytosis",[],[4311]],[12157,"Subcortical cerebral atrophy",[],[7369]],[12158,"Carotid artery dissection",[],[5344]],[12159,"Internal carotid artery dissection",[],[12158]],[12160,"Intracranial internal carotid artery dissection",[],[12159]],[12161,"External carotid artery dissection",[],[12158]],[12162,"Common carotid artery dissection",[],[12158]],[12163,"Carotid artery dilatation",["Carotid artery aneurysm"],[5344]],[12164,"Asterixis",[],[100022]],[12165,"Oligodactyly",[],[11297]],[12166,"Skin-picking",["Compulsive skin picking","Dermatillomania"],[100716]],[12167,"Hair-pulling",["Trichotillomania"],[100716]],[12168,"Head-banging",[],[100716,5200017]],[12169,"Self-biting",[],[100716]],[12170,"Nail-biting",["Onychophagia","Onychophagy"],[722,12169]],[12171,"Stereotypical hand wringing",["Hand clasping","Hand-wringing","Handwringing"],[5200009]],[12172,"Stereotypical body rocking",[],[5200019]],[12173,"Orthostatic tachycardia",["Postural tachycardia"],[12332]],[12174,"Glioblastoma multiforme",["Glioblastoma"],[9733]],[12175,"Resistance to activated protein C",["Activated protein C resistance"],[30780]],[12176,"Abnormal natural killer cell morphology",["Abnormal NK cells","Abnormality of natural killer cells"],[4332]],[12177,"Abnormal natural killer cell physiology",["Abnormal NK cell physiology","Reduced natural killer cell activity"],[31409]],[12179,"Craniofacial dystonia",["Abnormal craniofacial posture","Distorted craniofacial posture","Abnormal craniofacial muscle tone","Abnormal facial muscle tone","Facial Dystonia"],[4373]],[12180,"Cystic medial necrosis",["Arterial cystic medial necrosis"],[11004]],[12181,"Entrapment neuropathy",[],[9830]],[12182,"Oropharyngeal squamous cell carcinoma",[],[2860]],[12183,"Hyperplastic colonic polyposis",[],[30255]],[12184,"Elevated circulating HDL-C concentration",["Elevated high-density lipoprotein cholesterol concentration","Elevated high-density lipoprotein cholesterol level","Elevated high-density lipoprotein cholesterol level in blood","High blood HDL level","Hyperalphalipoproteinemia","Increased circulating high-density lipoprotein levels","Increased high-density lipoprotein cholesterol concentration","Increased high-density lipoprotein cholesterol level","Increased high-density lipoprotein cholesterol level in blood"],[10980,31888]],[12185,"Constrictive median neuropathy",["Carpal tunnel syndrome"],[12181]],[12186,"Entrapment neuropathy of the ulnar nerve at elbow",["Cubital tunnel syndrome"],[12181]],[12187,"Increased erythrocyte protoporphyrin concentration",[],[34606]],[12188,"Hyperemesis gravidarum",[],[2686]],[12189,"Hodgkin lymphoma",["Hodgkin disease","Hodgkin's lymphoma"],[2665]],[12190,"T-cell lymphoma",["T cell lymphoma"],[12539]],[12191,"B-cell lymphoma",["B cell lymphoma"],[12539]],[12192,"Cutaneous T-cell lymphoma",[],[12190]],[12193,"Anaplastic large-cell lymphoma",[],[12190]],[12194,"Episodic hemiplegia",[],[2301]],[12195,"Irregular respiration",["Irregular respiratory rhythm"],[2793]],[12196,"Cheyne-Stokes respiration",["Cheyne-Stokes breathing","Periodic respiration"],[2793]],[12197,"Insulinoma",["Pancreatic insulinoma"],[8261]],[12198,"Juvenile colonic polyposis",[],[4390,30255]],[12199,"Cluster headache",[],[2315]],[12200,"Abnormality of prothrombin",[],[3256]],[12202,"Increased serum bile acid concentration",[],[30984]],[12203,"Unusual fungal nail infection",["Onychomycosis","Unusual nail candidiasis","Unusual onychomycosis","Unusual tinea unguium"],[5210236,5210238]],[12204,"Recurrent vulvovaginal candidiasis",[],[2728]],[12205,"Globozoospermia",[],[12865]],[12206,"Abnormal sperm motility",[],[34809]],[12207,"Reduced sperm motility",["Asthenospermia","Asthenozoospermia"],[12206]],[12208,"Immotile sperm",["Nonmotile sperm"],[12207]],[12209,"Juvenile myelomonocytic leukemia",["Juvenile myelomonocytic leukaemia"],[12324]],[12210,"Abnormal renal morphology",["Abnormal kidney morphology","Abnormally shaped kidney","Kidney malformation","Kidney structure issue","Renal malformation","Structural anomalies of the renal tract","Structural kidney abnormalities","Structural renal anomalies"],[77]],[12211,"Abnormal renal physiology",["Abnormal kidney function","Abnormal renal function","Abnormality of renal physiology","Kidney function issue","Renal functional abnormality"],[77,11277]],[12212,"Abnormal glomerular filtration rate",["Abnormal GFR"],[12211]],[12213,"Decreased glomerular filtration rate",["Decreased GFR","Impaired renal creatinine clearance","Reduced creatinine clearance"],[12212]],[12214,"Increased glomerular filtration rate",["Increased GFR"],[12212]],[12215,"Testicular microlithiasis",[],[35]],[12216,"Entrapment neuropathy of suprascapular nerve",["Suprascapular nerve entrapment"],[12181]],[12217,"Increased urinary porphobilinogen",[],[3215]],[12218,"Alveolar soft part sarcoma",[],[30448]],[12219,"Erythema nodosum",[],[11123]],[12220,"Non-caseating epithelioid cell granulomatosis",[],[5210340]],[12221,"Pretibial blistering",["Pretibial epidermolysis bullosa"],[33800]],[12222,"Arachnoid hemangiomatosis",[],[1028]],[12223,"Splenic rupture",["Ruptured spleen"],[25408]],[12224,"Circulating immune complexes",[],[5368]],[12225,"Oligodontia of primary teeth",["Failure of development of some deciduous teeth","Failure of development of some primary teeth","Partial anodontia of deciduous teeth","Partial anodontia of primary teeth","Decreased number of baby teeth","Decreased number of deciduous teeth","Decreased number of milk teeth","Decreased number of primary teeth","Fewer baby teeth than normal","Fewer deciduous teeth than normal","Fewer primary teeth than normal","Missing some baby teeth","Missing some milk teeth","Missing some primary teeth"],[677]],[12226,"Ovarian teratoma",[],[9792,100615]],[12227,"Urethral stricture",[],[8661]],[12228,"Tension-type headache",[],[2315]],[12229,"CSF pleocytosis",["Cerebrospinal fluid pleocytosis","Increased leukocyte count in CSF"],[2921]],[12230,"Rhegmatogenous retinal detachment",[],[541]],[12231,"Serous retinal detachment",["Exudative retinal detachment","Non-rhegmatogenous retinal detachment","Exudative retinopathy"],[541]],[12232,"Shortened QT interval",[],[31547]],[12233,"Intramuscular hematoma",["IM hematoma","Intramuscular haematoma","Intramuscular hematomas"],[11805]],[12234,"Absence of circulating granulocytes",["Agranulocytosis"],[1913]],[12235,"Drug-induced agranulocytosis",[],[12234]],[12236,"Elevated sweat chloride",["Elevated sweat Cl","Elevated sweat Cl-"],[40127]],[12237,"Urocanic aciduria",["High urine urocanic acid levels"],[40156]],[12238,"Increased circulating chylomicron concentration",["Hyperchylomicronemia","Increased chylomicrons","Increased circulating chylomicron levels"],[10980,31887]],[12239,"Atransferrinemia",[],[32385]],[12240,"Increased intramyocellular lipid droplets",["Increased muscle lipid droplets"],[9058]],[12241,"Levator palpebrae superioris atrophy",[],[3000072]],[12242,"Superior rectus atrophy",["Rectus superior atrophy"],[8049]],[12243,"Abnormal reproductive system morphology",["Abnormal genital system morphology"],[78]],[12244,"Abnormal sex determination",[],[12243]],[12245,"Sex reversal",[],[12244]],[12246,"Oculomotor nerve palsy",["Oculomotor neuropathy"],[597,6824]],[12247,"Specific anosmia",[],[458]],[12248,"Prolonged PR interval",["Electrocardiographic long PR interval","Lengthened PR interval on EKG"],[31593]],[12249,"Abnormal ST segment",[],[3115]],[12250,"ST segment depression",[],[12249]],[12251,"ST segment elevation",[],[12249]],[12252,"Abnormal respiratory system morphology",[],[2086]],[12253,"Abnormal respiratory epithelium morphology",[],[12252]],[12254,"Ewing sarcoma",["Ewing's sarcoma"],[100242]],[12255,"Dynein arm defect of respiratory motile cilia",[],[5938]],[12256,"Absent outer dynein arms",[],[200106]],[12257,"Absent inner dynein arms",[],[200106]],[12258,"Abnormal axonemal organization of respiratory motile cilia",["Abnormal axonemal organisation of respiratory motile cilia"],[5938]],[12259,"Absent inner and outer dynein arms",[],[12256,12257]],[12260,"Abnormal central microtubular pair morphology of respiratory motile cilia",[],[5938]],[12261,"Abnormal respiratory motile cilium physiology",[],[2795]],[12262,"Abnormal ciliary motility",[],[12261]],[12263,"Immotile cilia",[],[12262]],[12264,"Absent central microtubular pair morphology of respiratory motile cilia",[],[5938]],[12265,"Ciliary dyskinesia",["Lack of coordinated beating of respiratory cilia"],[12262]],[12266,"T-wave alternans",[],[5135]],[12267,"Absent respiratory ciliary axoneme radial spokes",[],[5938]],[12268,"Myxoid liposarcoma",[],[12034]],[12269,"Abnormal muscle glycogen content",[],[34370]],[12270,"Decreased muscle glycogen content",[],[12269]],[12271,"Episodic upper airway obstruction",[],[2781]],[12272,"J wave",["EKG J waves","Osborne waves"],[3115]],[12273,"Increased carotid artery intimal medial thickness",[],[5344]],[12274,"Autosomal dominant inheritance with paternal imprinting",[],[34338]],[12275,"Autosomal dominant inheritance with maternal imprinting",[],[34338]],[12276,"Digital flexor tenosynovitis",["Trigger finger"],[6001438]],[12277,"Hypoglycinemia",["Low blood glycine levels"],[10895]],[12278,"Abnormal circulating serine concentration",["Abnormal serine level"],[10894]],[12279,"Hyposerinemia",["Decreased serine concentration","Decreased serine level","Decreased serine level in blood","Low blood serine levels","Reduced serine concentration","Reduced serine level","Reduced serine level in blood"],[12278]],[12280,"Hepatic amyloidosis",[],[20015,410042]],[12281,"Chylous ascites",["Chyloperitoneum"],[1541]],[12282,"Morbilliform rash",[],[4000054]],[12283,"Small distal femoral epiphysis",["Small end part of outermost thighbone"],[10590]],[12284,"Small proximal tibial epiphyses",["Small end part of innermost shankbone","Small end part of innermost shinbone"],[10585,10591]],[12285,"Abnormal hypothalamus physiology",[],[864,10662,12638]],[12286,"Abnormal hypothalamus morphology",["Abnormal shape of hypothalamus","Abnormality of hypothalamus morphology","Abnormality of the hypothalamus"],[10662]],[12287,"Hypothalamic luteinizing hormone-releasing hormone deficiency",[],[12285]],[12288,"Neoplasm of head and neck",["Head and neck tumor","Head and neck tumour","Head and neck cancer"],[11793]],[12289,"Facial neoplasm",["Face tumor","Face tumour"],[12288]],[12292,"Fusion of gums",["Fusion of the gingiva","Gingival synechia","Partial fusion of the gums","Synechia of the gums","Upper and lower gums fused together"],[168]],[12293,"Abnormal genital pigmentation",[],[811]],[12294,"Abnormal occipital bone morphology",["Abnormality of the occipital bone"],[2683]],[12295,"Slender middle phalanx of finger",["Slender middle bone of finger"],[9833]],[12296,"Slender distal phalanx of finger",["Slender outermost bone of finger"],[9832]],[12297,"Slender proximal phalanx of finger",["Slender innermost bone of finger"],[9834]],[12298,"Long middle phalanx of finger",["Long middle bone of finger"],[9833]],[12299,"Long distal phalanx of finger",["Long outermost bone of finger"],[9832]],[12300,"Ureteral agenesis",[],[25633]],[12301,"Type II transferrin isoform profile",["Abnormal isoelectric focusing of serum transferrin, type II pattern","Isoelectric focusing of serum transferrin consistent with CDG type II","Type 2 transferrin isoform profile","Abnormal isoelectric focusing of serum transferrin, type 2 pattern"],[3160]],[12302,"HSV encephalitis",["Herpes encephalitis","Herpes simplex encephalitis"],[33993,5210240]],[12303,"Abnormal aortic arch morphology",["Abnormality of the aortic arch"],[1679]],[12304,"Hypoplastic aortic arch",["Aortic arch hypoplasia","Underdeveloped aortic arch"],[12303]],[12305,"Coarctation of the descending aortic arch",[],[1680,12303]],[12306,"Abnormal rib ossification",["Abnormal maturation of rib bones"],[772,3336]],[12307,"Spatulate ribs",[],[885]],[12308,"Decreased circulating complement C9 concentration",["Decreased serum C9","Decreased serum complement C9"],[33057]],[12309,"Cutaneous amyloidosis",[],[20015]],[12310,"Abnormal monocyte count",["Abnormal monocyte number"],[11893,12144]],[12311,"Increased total monocyte count",["High blood monocyte number","Monocytosis"],[12310]],[12312,"Decreased total monocyte count",["Low blood monocyte number","Monocytopenia"],[12310]],[12313,"Heberden node",["Heberden's node"],[6247]],[12314,"Bouchard node",["Bouchard's node"],[6247]],[12315,"Histiocytoma",[],[12316]],[12316,"Fibrous tissue neoplasm",[],[11792]],[12317,"Sacroiliac arthritis",["Sacroiliitis"],[2758,100781]],[12318,"Occipital neuralgia",[],[2315,33345]],[12319,"Absent pigmentation of the abdomen",[],[200098]],[12320,"Absent pigmentation of the limbs",[],[200098]],[12321,"D-2-hydroxyglutaric aciduria",[],[32278]],[12322,"Perifolliculitis",["Perifollicular inflammation"],[11123]],[12323,"Sleep myoclonus",[],[1336]],[12324,"Myeloid leukemia",["Myeloid leukaemia"],[1909]],[12325,"Chronic myelomonocytic leukemia",["Chronic myelomonocytic leukaemia"],[12324]],[12326,"Abnormal celiac artery morphology",["Abnormal coeliac artery morphology","Abnormality of the celiac artery","Abnormality of the coeliac artery"],[20317]],[12327,"Celiac artery compression",["Coeliac artery compression","Celiac axis syndrome","Coeliac axis syndrome","Dunbar syndrome","Median arcuate ligament syndrome"],[12326]],[12328,"Cementoma",[],[100612]],[12329,"Tufted angioma",["Angioblastoma","Angioblastoma of Nakagawa","Hypertrophic hemangioma","Progressive capillary hemangioma","Tufted hemangioma"],[1028]],[12330,"Pyelonephritis",[],[123]],[12331,"Abnormal autonomic nervous system morphology",[],[2270]],[12332,"Abnormal autonomic nervous system physiology",["Autonomic dysfunction","Autonomic dysregulation","Dysautonomia"],[2270]],[12333,"Abnormal sudomotor regulation",["Sudomotor sympathetic dysfunction"],[12332]],[12334,"Extrahepatic cholestasis",[],[1396]],[12337,"Abnormal homeostasis",[],[1939]],[12338,"Abnormal energy expenditure",[],[12337]],[12339,"Increased resting energy expenditure",[],[12338]],[12340,"Decreased resting energy expenditure",[],[12338]],[12341,"Microprolactinoma",[],[6767]],[12342,"Macroprolactinoma",[],[6767]],[12343,"Decreased circulating ferritin concentration",["Decreased plasma ferritin","Decreased serum ferritin","Low ferritin level","Reduced serum ferritin"],[40133]],[12344,"Morphea",[],[1072]],[12345,"Abnormal glycosylation",[],[32245]],[12346,"Abnormal protein glycosylation",[],[12345]],[12347,"Abnormal protein N-linked glycosylation",[],[12346]],[12348,"Decreased galactosylation of N-linked protein glycosylation",[],[12347]],[12349,"Abnormal sialylation of N-linked protein glycosylation",[],[12347]],[12350,"Decreased sialylation of N-linked protein glycosylation",[],[12349]],[12351,"Increased sialylation of N-linked protein glycosylation",[],[12349]],[12352,"Abnormal fucosylation of protein N-linked glycosylation",[],[12347]],[12353,"Decreased fucosylation of N-linked protein glycosylation",[],[12352]],[12354,"Increased fucosylation of N-linked protein glycosylation",[],[12352]],[12355,"Abnormal mannosylation of N-linked protein glycosylation",[],[12347]],[12356,"Decreased mannosylation of N-linked protein glycosylation",[],[12355]],[12357,"Increased mannosylation of N-linked protein glycosylation",[],[12355]],[12358,"Abnormal protein O-linked glycosylation",[],[12346]],[12359,"Abnormal fucosylation of O-linked protein glycosylation",[],[12358]],[12360,"Decreased fucosylation of O-linked protein glycosylation",[],[12359]],[12361,"Increased fucosylation of O-linked protein glycosylation",[],[12359]],[12362,"Abnormal sialylation of O-linked protein glycosylation",[],[12358]],[12363,"Decreased sialylation of O-linked protein glycosylation",[],[12362]],[12364,"Decreased urinary potassium",["Decreased urinary K","Hypokaliuria","Hypokaluria","Low urine potassium levels"],[12598]],[12365,"Hypophosphaturia",["Low urine phosphate levels"],[12599]],[12366,"Basilar invagination",[],[932]],[12367,"Supernumerary fontanelle",["Extra fontanelle"],[11328]],[12368,"Flat face",["Flat facial profile","Flat facial shape","Flat facies"],[1999]],[12370,"Prominence of the zygomatic bone",["Cheekbone excess","Zygomatic bone excess","Cheekbone prominence","Malar hypertrophy","Prominence of cheekbone","Pronounced cheekbone","Hyperplasia of cheekbone","Hyperplasia of zygomatic bone","Zygomatic hypertrophy"],[10668]],[12371,"Hyperplasia of midface",["Big midface","Large midface","Midface hyperplasia","Midfacial excess","Midfacial prominence","Hypertrophy of midface","Overgrowth of the midface"],[309]],[12372,"Abnormal eye morphology",["Abnormal eye structure","Abnormality of the globe","Abnormally shaped eye"],[478]],[12373,"Abnormal eye physiology",["Abnormal vision physiology"],[478]],[12375,"Chemosis",[],[502]],[12376,"Microphakia",["Small lens"],[8063]],[12377,"Hemianopia",["Hemianopsia"],[1123]],[12378,"Fatigue",["Tired","Tiredness"],[25142]],[12379,"Abnormal circulating enzyme concentration or activity",[],[34684]],[12380,"Reduced tissue carnitine O-palmitoyltransferase 2 activity",[],[6000231]],[12381,"Delayed self-feeding during toddler years",[],[11968]],[12382,"Left-to-right shunt",[],[1693]],[12383,"Bidirectional shunt",[],[1693]],[12384,"Rhinitis",["Nasal inflammation"],[366]],[12385,"Camptodactyly",["Permanent flexion of the finger or toe"],[30044]],[12386,"Absent hallux",["Absent big toe","Agenesis of the halluces","Aplasia of the hallux","Missing big toe"],[8362]],[12387,"Bronchitis",[],[5210123]],[12388,"Acute bronchitis",[],[12387]],[12389,"Appendicular hypotonia",[],[1252]],[12390,"Anal fissure",["Anal erosion"],[34915]],[12391,"Hyporeflexia of upper limbs",[],[1265,2817]],[12392,"Jaw hyporeflexia",["Mandibular hyporeflexia"],[1265,45037]],[12393,"Allergy",[],[100326]],[12394,"Iodine contrast allergy",[],[12393]],[12395,"Seasonal allergy",[],[12393]],[12396,"Biliary dyskinesia",[],[12439]],[12397,"Aortic atherosclerotic lesion",["Aortic atherosclerosis","Plaque build-up in aorta artery","Atherosclerosis of the aorta","Atherosclerotic changes of aorta"],[1679,2621]],[12398,"Peripheral edema",["Peripheral oedema"],[969]],[12399,"Pressure ulcer",["Bedsore","Decubitus Ulcer","Pressure Sore"],[200042]],[12400,"Abnormal circulating aldolase concentration",["Abnormal aldolase level"],[12379]],[12401,"Abnormal urine alpha-ketoglutarate concentration",["Abnormal urinary 2-oxoglutarate level","Abnormality of urine alpha ketoglutarate concentration"],[33354]],[12402,"Increased urine alpha-ketoglutarate concentration",["Elevated urinary 2-oxoglutarate"],[12401]],[12403,"Decreased urine alpha-ketoglutarate concentration",["Decreased urinary 2-oxoglutarate"],[12401]],[12404,"Abnormal urine citrate concentration",["Abnormal urine citric acid concentration"],[33354]],[12405,"Hypocitraturia",["Decreased urine citrate concentration"],[12404]],[12406,"Hypercitraturia",["Increased urine citrate concentration"],[12404]],[12407,"Scissor gait",["Scissor walk","Scissoring gait","Scissoring of the lower extremities","Scissoring of the lower limbs","Scissors gait"],[31958]],[12408,"Medullary nephrocalcinosis",[],[121]],[12409,"Cortical nephrocalcinosis",[],[121]],[12410,"Pure red cell aplasia",["Red cell aplasia"],[12131]],[12411,"Premature pubarche",["Premature pubic hair growth"],[826]],[12412,"Premature adrenarche",[],[100000]],[12413,"Notched primary central incisor",["Notched front baby tooth","Notched front deciduous tooth","Notched front primary tooth","Syphilitic primary incisor"],[11063]],[12414,"Duodenal atrophy",[],[2246]],[12415,"Abnormal blood gas level",[],[2795]],[12416,"Hypercapnia",["High blood carbon dioxide level","Hypercarbia"],[500164]],[12417,"Hypocapnia",["Hypocarbia","Reduced carbon dioxide in the blood"],[500164]],[12418,"Hypoxemia",["Low blood oxygen level","Hypoxia"],[500165]],[12419,"Hyperoxemia",[],[500165]],[12420,"Meconium stained amniotic fluid",["Meconium staining of amniotic fluid","Meconium-stained amniotic fluid"],[1560]],[12421,"Congenital absence of foreskin",["Absent foreskin","Aposthia"],[100587]],[12422,"Villous hypertrophy of choroid plexus",["Choroid plexus hypertrophy","Diffuse villous hypertrophy of choroid plexus"],[7376]],[12423,"Colonic inertia",[],[12700]],[12424,"Chorioretinitis",[],[532]],[12425,"Stercoral ulcer",["Colon ulcer","Recto-sigmoid colon stercoral ulcer"],[2250,34274]],[12426,"Optic disc drusen",["Optic nerve head drusen"],[11510,12795]],[12427,"Increased femoral anteversion",["Excessive femoral anteversion","Increased femoral neck anteversion","Internally rotated hips"],[31069]],[12428,"Prominent calcaneus",["Prominent heel bone"],[8364]],[12429,"Aplasia/Hypoplasia of the cerebral white matter",["Absent/small cerebral white matter","Absent/underdeveloped cerebral white matter"],[2500]],[12430,"Cerebral white matter hypoplasia",["Paucity of cerebral white matter"],[12429]],[12431,"Episodic fatigue",[],[12378]],[12432,"Chronic fatigue",["Chronic extreme exhaustion"],[12378]],[12433,"Abnormal social behavior",["Abnormal social interactions"],[708]],[12434,"Delayed early-childhood social milestone development",["Delayed milestone development","Delayed social development"],[12758,25732]],[12435,"Ventral shortening of foreskin",[],[100587]],[12436,"Nonocclusive coronary artery atherosclerosis",["Non-occlusive coronary artery disease","Non-occlusive coronary artery stenosis","Nonocclusive coronary artery disease","Nonocclusive coronary artery stenosis"],[1677]],[12437,"Abnormal gallbladder morphology",["Abnormal gallbladder structure","Abnormal shape of gallbladder"],[5264]],[12438,"Abnormal gallbladder physiology",[],[5264]],[12439,"Abnormal biliary tract physiology",[],[1080]],[12440,"Abnormal biliary tract morphology",["Anomaly of the biliary tract"],[1080]],[12441,"Sphincter of Oddi dyskinesia",["Sphincter of Oddi dysfunction"],[12396]],[12442,"Gallbladder dyskinesia",[],[12396]],[12443,"Abnormal brain morphology",["Abnormal shape of brain","Abnormality of brain morphology","Abnormality of the brain"],[2011]],[12444,"Brain atrophy",["Brain degeneration","Brain wasting"],[7367,12443]],[12446,"Decreased CSF 5-methyltetrahydrofolate concentration",["Low CSF 5-methyltetrahydrofolate","Reduced CSF 5-methyltetrahydrofolate concentration","Cerebral folate deficiency"],[20351]],[12447,"Abnormal myelination",[],[12639]],[12448,"Delayed myelination",[],[12447]],[12449,"Sacroiliac joint synovitis",[],[100781]],[12450,"Chronic constipation",["Infrequent bowel movements"],[2019]],[12451,"Acute constipation",[],[2019]],[12452,"Restless legs",["Restless legs syndrome","Tachyathetosis","Ekbom syndrome","Willis-Ekbom disease","Wittmaack-Ekbom syndrome"],[31943,5200300]],[12453,"Bilateral wrist flexion contracture",["Bilateral wrist contracture"],[1239]],[12454,"Unilateral wrist flexion contracture",["Unilateral wrist contracture"],[1239]],[12456,"Medial arterial calcification",[],[3207]],[12457,"Medial calcification of medium-sized arteries",[],[12456]],[12458,"Medial calcification of small arteries",[],[12456]],[12459,"Hypnic headache",["Alarm clock headache"],[2315]],[12460,"Dysmorphic inferior cerebellar vermis",[],[2334]],[12461,"Bacteriuria",["Bacteria in urine","High urine bacteria"],[3110]],[12462,"Chin myoclonus",["Geniospasm","Chin spasms"],[1336]],[12463,"Elevated transferrin saturation",[],[40135]],[12464,"Decreased transferrin saturation",[],[40135]],[12465,"Elevated hepatic iron concentration",["Increased iron concentration in liver","Increased liver iron level"],[40134]],[12466,"Chronic respiratory acidosis",[],[5972,12468]],[12467,"Acute respiratory acidosis",[],[5972]],[12468,"Chronic acidosis",[],[1941]],[12469,"Infantile spasms",[],[11097]],[12470,"Setting-sun eye phenomenon",["Sun setting eyes","Sunsetting eye","Eyes fixed downward"],[597]],[12471,"Thick vermilion border",["Full lips","Increased volume of lip","Increased volume of lip vermillion","Plump lips","Prominent lips","Thick lips"],[159]],[12472,"Eclabion",["Eclabium","Everted lips","Outward turned lips"],[159]],[12473,"Tongue atrophy",["Atrophy of the tongue","Lingual atrophy","Lingual wasting","Wasting of the tongue"],[30809]],[12474,"Carotid artery occlusion",["Obstructed carotid artery"],[5344]],[12475,"Impaired specific antibody response",["Abnormal specific antibody response","Decreased circulating level of specific antibodies","Decreased specific antibody in blood","Specific antibody deficiency"],[5368,31404]],[12476,"Decreased circulating specific pneumococcal antibody concentration",["Decreased specific pneumococcal antibody level","Low pneumococcal antibody titer","Specific pneumococcal antibody deficiency"],[2848]],[12477,"Vocal tremor",["Shakey voice"],[2345]],[12478,"Temporomandibular joint ankylosis",["Ankylosis of temporomandibular joint","Freezing of jaw joint","Freezing of the temporomandibular joint","Jaw ankylosis","Rigidity of the temporomandibular joint","Temporomandibular joint fusion","Adhesion of the temporomandibular joint"],[10754]],[12479,"Temporomandibular joint crepitus",["Jaw joint noise","Jaw joint sounds","Temporomandibular joint noise","Temporomandibular joint sounds","Jaw joint crepitus","Jaw joint clicking sound","Jaw joint grating sound","Jaw joint popping sound","Temporomandibular joint clicking sound","Temporomandibular joint grating sound","Temporomandibular joint popping sound"],[10754]],[12480,"Abnormal cerebral vein morphology",["Abnormality of cerebral veins"],[100659]],[12481,"Cerebral venous angioma",["Developmental Venous Anomaly"],[12480]],[12482,"Frontal venous angioma",[],[12481]],[12483,"Abnormal alpha granules",[],[11883]],[12484,"Abnormal dense granules",[],[11883]],[12485,"Abnormal surface-connected open canalicular system",[],[11875]],[12486,"Myelitis",["Inflammation of spinal cord"],[2143,33429]],[12487,"Cerebellopontine angle arachnoid cyst",[],[7291,100702]],[12488,"Intraventricular arachnoid cyst",[],[10576,100702]],[12489,"Suprasellar arachnoid cyst",[],[10576,100702]],[12490,"Panniculitis",["Inflammation of adipose tissue","Inflammation of fat tissue"],[9124,12649]],[12491,"Abnormal dense tubular system",[],[11875]],[12492,"Cerebral artery stenosis",["Narrowing of a cerebral artery"],[9145]],[12493,"Middle cerebral artery stenosis",[],[12492]],[12494,"Anterior cerebral artery stenosis",[],[12492]],[12495,"Posterior cerebral artery stenosis",[],[12492]],[12496,"Reduced maximal inspiratory pressure",[],[4347]],[12497,"Reduced maximal expiratory pressure",[],[4347]],[12498,"Nuchal cord",[],[1787]],[12499,"Descending aortic dissection",["Type B aortic dissection"],[2647]],[12500,"Verrucous papule",["Papillomatous papule"],[200034]],[12501,"Abnormal brainstem white matter morphology",["Abnormality of the brainstem white matter"],[2363]],[12502,"Abnormality of the internal capsule",[],[2500]],[12503,"Abnormal pituitary gland morphology",["Abnormality of the pituitary gland","disorder of pituitary gland"],[864,12443]],[12504,"Abnormal size of pituitary gland",[],[12503]],[12505,"Enlarged pituitary gland",[],[12504]],[12506,"Small pituitary gland",[],[12504]],[12507,"Weakness of orbicularis oculi muscle",["Weakness of orbicularis oculi muscles"],[1324,30319]],[12508,"Metamorphopsia",[],[504]],[12510,"Extra-axial cerebrospinal fluid accumulation",["Extra-axial CSF accumulation"],[2921]],[12511,"Temporal optic disc pallor",[],[543]],[12512,"Diffuse optic disc pallor",[],[543]],[12513,"Upper limb pain",[],[9763]],[12514,"Lower limb pain",["Leg pain"],[9763]],[12515,"Hip flexor weakness",[],[3749]],[12516,"Tetralogy of Fallot with pulmonary atresia",[],[1636]],[12517,"Reduced circulating catalase activity",["Reduced catalase level"],[12379]],[12518,"Abnormal circle of Willis morphology",["Abnormality of the cerebral arterial circle"],[9145]],[12519,"Hypoplastic posterior communicating artery",["Hypoplastic posterior communicating arteries"],[31772]],[12520,"Dilation of Virchow-Robin spaces",["Dilated Virchow-Robin spaces","Perivascular spaces","Dilated cerebral perivascular spaces"],[100659]],[12521,"Optic nerve aplasia",["Absent optic nerve","Aplastic optic nerve"],[8058]],[12522,"Spider hemangioma",[],[100585]],[12523,"Oral aversion",[],[100738]],[12524,"Abnormal platelet shape",[],[11875]],[12525,"Abnormal alpha granule distribution",[],[12483]],[12526,"Absence of alpha granules",["Gray platelets","Grey platelets"],[12528]],[12527,"Abnormal alpha granule content",[],[12483]],[12528,"Abnormal number of alpha granules",[],[12483]],[12529,"Abnormal dense granule content",[],[12484]],[12530,"Abnormal number of dense granules",[],[12484]],[12531,"Pain",[],[25142]],[12532,"Chronic pain",["Long-lasting pain"],[12531]],[12533,"Allodynia",[],[12531]],[12534,"Dysesthesia",["Dysaesthesia","Hyperalgesia","Hyperpathia","Dysesthesias"],[10832]],[12535,"Abnormal synaptic transmission",["Abnormality of neurotransmitter metabolism"],[12638]],[12536,"Maternal anticardiolipin antibody positive",[],[11437]],[12537,"Food intolerance",["Non-allergic food hypersensitivity"],[12337]],[12538,"Gluten intolerance",["Gluten sensitivity"],[1984]],[12539,"Non-Hodgkin lymphoma",[],[2665]],[12540,"Axillary epidermoid cyst",["Armpit cyst"],[200040]],[12541,"Cephalohematoma",["Cephalohaematoma"],[1787,1892]],[12542,"Onychauxis",[],[1805]],[12543,"Hemosiderinuria",[],[33354]],[12544,"Elevated circulating aldolase concentration",["Elevated aldolase level"],[12400]],[12545,"Reduced circulating aldolase concentration",["Reduced aldolase level"],[12400]],[12546,"Skewed maternal X inactivation",[],[2686]],[12547,"Abnormal involuntary eye movements",[],[496]],[12548,"Fatty replacement of skeletal muscle",["Adipose infiltration of muscle","Fatty degeneration of skeletal muscle","Muscle fat infiltration","Myosteatosis","Skeletal muscle fatty infiltration","Steatosis of skeletal muscles"],[11805]],[12549,"Conjunctival lipoma",[],[502]],[12550,"Colonic varices",[],[2250]],[12551,"Absent neutrophil specific granules",[],[11992]],[12552,"Increased neutrophil nuclear projections",[],[11992]],[12553,"Hypoplastic thumbnail",["Small thumbnail","Underdeveloped thumbnail"],[1804]],[12554,"Absent thumbnail",[],[1817]],[12555,"Absent nail of hallux",["Absent big toe nail","Absent nail of big toe"],[1802]],[12556,"Hyperbetaalaninemia",["Elevated beta-alanine concentration","Elevated beta-alanine level","Elevated beta-alanine level in blood","High blood beta-alanine levels","Increased beta-alanine concentration","Increased beta-alanine level","Increased beta-alanine level in blood"],[33109]],[12557,"EEG with centrotemporal focal spike waves",[],[11197,33721]],[12558,"Abnormal T3/T4 ratio",[],[31508]],[12559,"Increased T3/T4 ratio",[],[12558]],[12560,"Decreased T3/T4 ratio",[],[12558]],[12561,"Unicuspid aortic valve",[],[31567]],[12562,"Premature epimetaphyseal fusion in hand",[],[10588]],[12563,"Premature epimetaphyseal fusion in foot",[],[10588]],[12564,"Premature epimetaphyseal fusion in tibia",[],[10588]],[12565,"Premature epimetaphyseal fusion in fibula",[],[10588]],[12566,"Premature epimetaphyseal fusion in radius",[],[10588]],[12567,"Premature epimetaphyseal fusion in ulna",[],[10588]],[12568,"Lower eyelid edema",["Cellulitis of lower eyelid","Fullness of lower eyelid","Lower eyelid oedema","Puffiness of lower eyelid","Swelling of lower eyelid"],[100540]],[12569,"Delayed menarche",["Delayed start of first period"],[140,823]],[12570,"Synovial sarcoma",["Malignant synovioma"],[30448]],[12571,"Ureter fissus",["Partially duplicated ureter"],[73]],[12572,"Ureter duplex",[],[73]],[12573,"Global proximal tubulopathy",[],[114]],[12574,"Mesangial hypercellularity",["Mesangial proliferation"],[33231]],[12575,"Abnormal nephron morphology",["Abnormality of the nephron"],[12210]],[12576,"Glomerular C3 deposition",["Renal C3 deposition","C3 nephropathy"],[30949]],[12577,"Thin glomerular basement membrane",[],[33282]],[12578,"Membranous nephropathy",["Membranous glomerulonephritis"],[99]],[12579,"Minimal change glomerulonephritis",["Minimal change disease","Minimal change nephropathy"],[99]],[12580,"Calcium phosphate nephrolithiasis",["Ca phosphate nephrolithiasis","Ca phosphate urolithiasis","Ca2+ phosphate nephrolitiasis","Ca2+ phosphate urolithiasis","Calcium phosphate urolithiasis"],[4724]],[12581,"Simple renal cyst",["Simple kidney cyst","Solitary renal cyst","single cortical cyst"],[107]],[12582,"Bilateral renal dysplasia",[],[110]],[12583,"Unilateral renal hypoplasia",["Small kidney on one side","Underdeveloped kidney on one side"],[89]],[12584,"Bilateral renal hypoplasia",[],[89]],[12585,"Renal atrophy",["Kidney degeneration"],[12210]],[12586,"Bilateral renal atrophy",["Bilateral kidney degeneration"],[12585]],[12587,"Macroscopic hematuria",["Bloody urine","Gross hematuria"],[790]],[12588,"Steroid-resistant nephrotic syndrome",["SRNS"],[100]],[12589,"Multidrug-resistant nephrotic syndrome",[],[100]],[12590,"Abnormal urine output",[],[11036]],[12591,"Abnormal urinary electrolyte concentration",["Urinary electrolyte imbalance"],[3110]],[12592,"Albuminuria",[],[20129]],[12593,"Nephrotic range proteinuria",[],[93]],[12594,"Moderate albuminuria",["High urine albumin levels","Microalbuminuria"],[12592]],[12595,"Mild proteinuria",[],[93]],[12596,"Moderate proteinuria",[],[93]],[12597,"Heavy proteinuria",["Severely high blood protein levels"],[93]],[12598,"Abnormal urine potassium concentration",["Abnormal urine K concentration"],[12591]],[12599,"Abnormal urine phosphate concentration",[],[12591]],[12600,"Abnormal urine chloride concentration",["Abnormal urine Cl concentration","Abnormal urine Cl- concentration"],[12591]],[12601,"Hypochloriduria",["Decreased urinary chloride","Low urine chloride levels"],[12600]],[12602,"Renal chloride wasting",["Kidney chloride wasting","Renal Cl wasting","Renal Cl- wasting"],[12600]],[12603,"Abnormal urine sodium concentration",["Abnormal urine Na concentration","Abnormal urine Na+ levels"],[12591]],[12604,"Hyponatriuria",["Low urine sodium levels"],[12603]],[12605,"Hypernatriuria",["Increased urinary sodium"],[12603]],[12606,"Renal sodium wasting",["Kidney sodium wasting","Renal Na wasting","Renal Na+ wasting"],[12603]],[12607,"Abnormal urine magnesium concentration",[],[12591]],[12608,"Hypermagnesiuria",[],[12607]],[12609,"Hypomagnesiuria",["Decreased urine magnesium","Low urine magnesium levels"],[12607]],[12610,"Abnormality of urinary uric acid level",[],[6000531]],[12612,"Abnormal urinary sulfate concentration",["Abnormal urinary sulphate concentration"],[33354]],[12613,"Increased urinary sulfate",["Increased urinary sulphate"],[12612]],[12614,"Abnormal urine cytology",[],[3110]],[12615,"Cylindruria",["Urinary casts"],[12614]],[12616,"Leukocyte cylindruria",["White blood cell casts"],[31197]],[12617,"Erythrocyte cylindruria",["Red blood cell casts","Urinary erythrocyte cast"],[31197]],[12618,"Urachal cyst",[],[10478]],[12619,"Multiple bladder diverticula",["Multiple pouches in bladder wall"],[15]],[12620,"Cloacal abnormality",[],[119,10866]],[12621,"Persistent cloaca",["Cloacogenic bladder"],[12620]],[12622,"Chronic kidney disease",["CKD","Loss of renal function","Progressive renal failure","Progressive renal insufficiency","Renal failure, progressive","Renal insufficiency, progressive"],[83]],[12623,"Stage 1 chronic kidney disease",[],[12622]],[12624,"Stage 2 chronic kidney disease",[],[12622]],[12625,"Stage 3 chronic kidney disease",[],[12622]],[12626,"Stage 4 chronic kidney disease",[],[12622]],[12627,"Pseudoexfoliation",[],[4328]],[12628,"Abnormal suspensory ligament of lens morphology",["Abnormality of the suspensory ligament of lens","Abnormality of zinn's membrane","Ciliary zonule abnormality","Zonule of zinn abnormality"],[4328]],[12629,"Phakodonesis",["Phacodonesis","Trembling eye lens"],[517]],[12630,"Abnormal trabecular meshwork morphology",["Abnormality of the trabecular meshwork"],[593]],[12631,"Pigment deposition in the trabecular meshwork",[],[12630]],[12632,"Abnormal intraocular pressure",["Abnormal eye pressure"],[12373]],[12633,"Asymmetry of intraocular pressure",[],[12632]],[12634,"Iris pigment dispersion",[],[8034]],[12635,"Iris hypoperfusion",[],[7905]],[12636,"Retinal venous occlusion",["Retinal vein occlusion"],[8046]],[12637,"Renal calcium wasting",["Kidney Ca wasting","Kidney Ca2+ wasting","Kidney calcium wasting","Renal Ca wasting","Renal Ca2+ wasting"],[11280]],[12638,"Abnormal nervous system physiology",["Abnormality of nervous system physiology"],[707]],[12639,"Abnormal nervous system morphology",["Abnormal shape of nervous system","Abnormality of nervous system morphology"],[707]],[12640,"Abnormality of intracranial pressure",[],[12638]],[12641,"Decreased intracranial pressure",["Intracranial hypotension"],[12640]],[12642,"Cerebellar agenesis",[],[7360]],[12643,"Foveal hypopigmentation",["Foveal depigmentation"],[30493]],[12644,"Increased caudate lactate level",[],[2339]],[12645,"Enlarged peripheral nerve",["Enlarged peripheral nerves"],[759]],[12646,"Retractile testis",["Retractile testicle"],[35]],[12647,"Abnormal inflammatory response",[],[10978]],[12648,"Decreased inflammatory response",[],[12647]],[12649,"Increased inflammatory response",[],[12647]],[12650,"Perisylvian polymicrogyria",["Frontoparietal polymicrogyria"],[2126]],[12651,"Abasia",[],[2066]],[12652,"Exercise-induced asthma",[],[2099]],[12653,"Status asthmaticus",["Acute severe asthma"],[2099]],[12654,"Abnormal CSF dopamine concentration",["Abnormal CSF dopamine level"],[25454]],[12655,"Elevated CSF dopamine concentration",[],[12654]],[12656,"Reduced CSF dopamine concentration",[],[12654]],[12657,"Abnormal brain positron emission tomography",["Abnormal brain PET scan"],[410263]],[12658,"Abnormal brain FDG positron emission tomography",["Abnormal brain FDG PET scan"],[12657]],[12659,"Prefrontal hypometabolism in FDG PET",[],[12658]],[12660,"Thalamic hypometabolism in FDG PET",[],[12658]],[12661,"Hypothalamic hypometabolism in FDG PET",[],[12658]],[12662,"Parietal hypometabolism in FDG PET",[],[12658]],[12663,"Mildly reduced left ventricular ejection fraction",["Mildly reduced ejection fraction"],[12664]],[12664,"Reduced left ventricular ejection fraction",["Reduced ejection fraction"],[25169,34314]],[12665,"Moderately reduced left ventricular ejection fraction",["Moderately reduced ejection fraction"],[12664]],[12666,"Severely reduced left ventricular ejection fraction",["Severely reduced ejection fraction"],[12664]],[12667,"Regional left ventricular wall motion abnormality",[],[5162]],[12668,"Vasovagal syncope",["Neurocardiogenic syncope","Reflex syncope","Situational syncope","Vasovagal episode"],[1279]],[12669,"Carotid sinus syncope",[],[1279]],[12670,"Orthostatic syncope",[],[1279]],[12671,"Abulia",["Aboulia"],[745]],[12672,"Akinetic mutism",["Stuporous mutism"],[745]],[12673,"Aplasia of the upper vagina",["Absent upper vagina"],[3250]],[12674,"Aplasia of the lower vagina",["Absent lower vagina","Agenesis of the lower vagina"],[3250]],[12675,"Iron accumulation in brain",["Brain iron deposition"],[12443]],[12676,"Copper accumulation in brain",["Brain copper accumulation"],[12443,32243]],[12678,"Iron accumulation in substantia nigra",[],[12675,45007]],[12679,"Widened interpedicular distance",[],[8438]],[12680,"Abnormality of the pineal gland",[],[818]],[12681,"Abnormal pineal morphology",["Abnormality of pineal morphology"],[12443,12680]],[12682,"Pineal gland calcification",[],[12681]],[12683,"Pineal cyst",[],[10576,12681]],[12684,"Abnormal pineal volume",[],[12681]],[12685,"Decreased pineal volume",[],[12684]],[12686,"Increased pineal volume",[],[12684]],[12687,"Agenesis of pineal gland",[],[2977,12681]],[12688,"Abnormality of pineal physiology",[],[12638,12680]],[12689,"Abnormal pineal melatonin secretion",[],[12688]],[12690,"T2 hypointense thalamus",[],[12696]],[12691,"Focal T2 hypointense thalamic lesion",[],[12696]],[12692,"Focal T2 hyperintense thalamic lesion",[],[12696]],[12693,"Abnormal thalamic size",[],[10663]],[12694,"Enlarged thalamic volume",[],[12693]],[12695,"Decreased thalamic volume",[],[12693]],[12696,"Abnormal thalamic MRI signal intensity",[],[10663]],[12697,"Small basal ganglia",[],[2134]],[12698,"Cerebellar gliosis",[],[1317,2171]],[12699,"Anomaly of lower limb diaphyses",["Anomaly of shaft of long bone of lower limb"],[940]],[12700,"Abnormal large intestine physiology",[],[25032]],[12701,"Bowel urgency",["Faecal urgency","Fecal urgency"],[12700]],[12702,"Tenesmus",[],[12700]],[12703,"Abnormal subarachnoid space morphology",["Abnormality of the subarachnoid space"],[2011]],[12704,"Widened subarachnoid space",["Enlarged subarachnoid space","Widened subarachnoid spaces"],[12703]],[12705,"Abnormal metabolic brain imaging by MRS",[],[410263]],[12706,"Elevated brain choline level by MRS",[],[25047]],[12707,"Elevated brain lactate level by MRS",[],[25045]],[12708,"Reduced brain N-acetyl aspartate level by MRS",["MR Spectroscopy: N-acetylaspartate low in brain","Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy"],[25052]],[12709,"Abnormal brain choline/creatine ratio by MRS",[],[12705]],[12710,"Ingrown nail",[],[1597]],[12711,"Delayed ossification of vertebral epiphysis",["Delayed maturation of the end part of the vertebral bone"],[100569]],[12712,"Mild hearing impairment",[],[365]],[12713,"Moderate hearing impairment",[],[365]],[12714,"Severe hearing impairment",["Severe deafness","Severe hearing loss"],[365]],[12715,"Profound hearing impairment",[],[365]],[12716,"Moderate conductive hearing impairment",["Conductive hearing loss, moderate"],[405,12713]],[12717,"Severe conductive hearing impairment",["Conductive hearing loss, severe"],[405,12714]],[12718,"Abnormal gastrointestinal tract morphology",["Abnormal shape of the digestive system","Morphological abnormality of the GI tract","Morphological abnormality of the gastrointestinal tract","Morphological anomaly of the digestive system"],[11024,25033]],[12719,"Functional abnormality of the gastrointestinal tract",["Functional abnormality of the GI tract","GI dysfunction"],[11024,25032]],[12720,"Neoplasm of the nose",["Nasal neoplasm","Nasal tumor","Nasal tumour","Neoplasia of the nose","Nose cancer","Tumor of the nose","Tumour of the nose"],[12289,100630]],[12721,"Venous malformation",["Venous malformations"],[2624]],[12722,"Heart block",[],[31546]],[12723,"Sinoatrial block",[],[11702,12722]],[12724,"Upper eyelid edema",["Cellulitis of upper eyelid","Fullness of upper eyelid","Puffiness of upper eyelid","Swelling of upper eyelid","Upper eyelid oedema"],[100540]],[12725,"Cutaneous syndactyly",["Cutaneous syndactyly of digits","Syndactyly, cutaneous"],[1159]],[12726,"Episodic hypokalemia",["Recurrent low potassium"],[2900]],[12727,"Thoracic aortic aneurysm",["Dilatation of the thoracic aorta"],[4942]],[12728,"Fusiform descending thoracic aortic aneurysm",["Dilatation of the fusiform descending thoracic aorta"],[4959]],[12729,"Saccular descending thoracic aortic aneurysm",["Dilatation of the saccular descending thoracic aorta"],[4959]],[12730,"Aglossia",["Missing tongue","Absence of tongue","Failure of development of tongue"],[10295]],[12731,"Ectopic anterior pituitary gland",[],[11747]],[12732,"Anorectal anomaly",[],[12718]],[12733,"Macule",["Flat, discolored area of skin","Flat, discoloured area of skin"],[11355]],[12734,"Ketotic hypoglycemia",["Ketotic low blood sugar"],[1943]],[12735,"Cough",["Coughing"],[2795]],[12736,"Profound global developmental delay",["Global developmental delay, profound","Psychomotor retardation, profound"],[1263]],[12737,"Small intestinal polyp",[],[5266,100833]],[12738,"Agenesis of canine",["Absent canines","Failure of development of canine","Failure of development of eye tooth","Absence of canine","Absence of eye tooth","Missing canine","Missing eye tooth"],[1592,11078]],[12739,"Agenesis of the small intestine",["Small bowel agenesis","Undeveloped small intestine"],[2244]],[12740,"Papilloma",[],[8069]],[12741,"Unilateral cryptorchidism",["Cryptorchidism, unilateral"],[28]],[12742,"Thin fingernail",[],[1231,1816]],[12743,"Abdominal obesity",["Central obesity"],[1513]],[12744,"Femoral aplasia",["Absent femur","Absent thighbone","Aplasia of the femur"],[5613]],[12745,"Short palpebral fissure",["Decreased height of palpebral fissure","Short opening between the eyelids","Short palpebral fissures"],[200007]],[12746,"Thin toenail",["Thin toenails"],[1816,8388]],[12747,"Abnormal brainstem MRI signal intensity",[],[2363]],[12748,"Focal T2 hyperintense brainstem lesion",[],[12747]],[12749,"Focal T2 hypointense brainstem lesion",[],[12747]],[12750,"T2 hypointense brainstem",[],[12747]],[12751,"Abnormal basal ganglia MRI signal intensity",[],[2134]],[12752,"Focal T2 hypointense basal ganglia lesion",[],[12751]],[12753,"T2 hypointense basal ganglia",[],[12751]],[12754,"CNS hypermyelination",[],[11400]],[12755,"Enlarged brainstem",[],[2363]],[12756,"CSF polymorphonuclear pleocytosis",[],[12229]],[12757,"Abnormal neuron morphology",["Abnormal neuron shape","Abnormal neuronal morphology"],[12639]],[12758,"Neurodevelopmental delay",["NDD"],[12759]],[12759,"Neurodevelopmental abnormality",[],[12638]],[12760,"Reduced social responsiveness",["Impaired social interaction","Impaired social interactions","Impaired social reciprocity","Poor social interactions"],[25732]],[12761,"Absent mastoid",["Absent mastoids","Failure of development of mastoid","Mastoid agenesis"],[264]],[12762,"Cerebral white matter atrophy",[],[2500]],[12763,"Paroxysmal dyspnea",["Paroxysmal dyspnoea"],[2094]],[12764,"Orthopnea",[],[2094]],[12765,"Widened cerebellar subarachnoid space",[],[12704]],[12766,"Widened cerebral subarachnoid space",[],[12704]],[12767,"Abnormal placental size",[],[100767]],[12768,"Neonatal asphyxia",["Asphyxia neonatorum"],[2643]],[12769,"Abnormal arm span",[],[2817]],[12770,"Reduced arm span",[],[12769]],[12771,"Increased arm span",[],[12769]],[12772,"Abnormal upper to lower segment ratio",[],[2]],[12773,"Reduced upper to lower segment ratio",[],[12772]],[12774,"Increased upper to lower segment ratio",[],[12772]],[12775,"Stellate iris",[],[8034]],[12776,"Abnormal ciliary body morphology",["Abnormality of the ciliary body"],[553]],[12777,"Retinal neoplasm",[],[479,100012]],[12778,"Retinal astrocytic hamartoma",[],[9594]],[12779,"Transient hearing impairment",[],[365]],[12780,"Neoplasm of the ear",["Ear tumor","Ear tumour"],[11793,31703]],[12781,"Mid-frequency hearing loss",[],[365]],[12782,"Perilobar nephrogenic rest",["Perilobar nephrogenic rests"],[100880]],[12783,"Intralobar nephrogenic rest",["Intralobar nephrogenic rests"],[100880]],[12784,"Perinephritis",[],[123]],[12785,"Flexion contracture of finger",["Flexion deformity of finger"],[34681]],[12786,"Recurrent cystitis",["Recurrent bladder infections"],[10,5210191]],[12787,"Recurrent pyelonephritis",[],[10,5210195]],[12788,"Reticulate pigmentation of oral mucosa",["Mottled pigmentation of oral mucosa","Reticulate pigmentation of oral mucous membrane"],[100669]],[12789,"Hypoplasia of the calcaneus",["Hypoplastic calcaneus","Small heel bone","Underdeveloped heel bone"],[8363,8364]],[12790,"Abnormal intramembranous ossification",["Abnormal intramembranous bone ossification"],[11849]],[12791,"Abnormal humeral ossification",["Abnormal maturation of long bone in upper arm"],[3336,31095]],[12792,"Absent ossification of thoracic vertebral bodies",[],[4599]],[12793,"Kinked brainstem",["Kinked brain stem"],[2363]],[12794,"Periventricular white matter hypodensities",["Periventricular cerebral white matter hypodensities"],[7103]],[12795,"Abnormal optic disc morphology",[],[587]],[12796,"Increased cup-to-disc ratio",["Elevated cup to disc ratio","Elevated cup to disk ratio","Increased cup disc ratio","Increased cup disk ratio","Optic cupping"],[12795]],[12797,"Lymphatic vessel neoplasm",["Lymphatic vessel tumor","Lymphatic vessel tumour"],[100742,100766]],[12798,"Pulmonary lymphangiomyomatosis",["Pulmonary myomatosis","Lymphangioleiomyomatosis"],[12797,100526]],[12799,"Unilateral facial palsy",["Facial droop","Paralysis of one side of the face","Unilateral facial muscle paralysis","Unilateral facial muscle weakness","Unilateral facial paralysis","Unilateral facial weakness","Weakness of one side of the face"],[10628]],[12800,"Accessory cranial suture",["Extra cranial suture","Supernumary cranial suture"],[11329]],[12801,"Narrow jaw",["Narrow lower face","Narrow lower jaw","Narrow mandible","Thin lower face","Thin lower jaw"],[277]],[12802,"Broad jaw",["Broad lower face","Broad mandible","Wide jaw","Wide mandible"],[277]],[12803,"Anisometropia",[],[539]],[12804,"Corneal ulceration",["Corneal ulcer","Corneal ulcerations"],[11495]],[12805,"Iris transillumination defect",[],[8034]],[12806,"Proboscis",[],[5105]],[12807,"High insertion of columella",["Ala lower than columella","Columella, high insertion"],[9929]],[12808,"Abnormal nasal base norphology",["Abnormal nasal base","Abnormality of base of nose","Anomaly of base of nose","Anomaly of nasal base","Deformity of base of nose","Deformity of nasal base","Malformation of base of nose","Malformation of nasal base"],[5105]],[12809,"Narrow nasal base",["Decreased width of base of nose","Decreased width of nasal base","Narrow base of nose","Thin base of nose","Thin nasal base"],[12808]],[12810,"Wide nasal base",["Broad base of nose","Broad nasal base","Increased width of base of nose","Increased width of nasal base","Wide base of nose"],[12808]],[12811,"Wide nasal ridge",["Broad dorsum of nose","Broad nasal dorsum","Increased width of dorsum of nose","Increased width of nasal dorsum","Increased width of nasal ridge","Nasal ridge, wide","Wide dorsum of nose","Wide nasal dorsum","Broad nasal ridge"],[11119]],[12812,"Fullness of paranasal tissue",["Fullness of tissue around the nose","Laterally built up nose","Paranasal fullness","Thick paranasal tissue","Thick tissue around the nose","Hyperplasia of paranasal tissue","Hypertrophy of paranasal tissue"],[5105]],[12813,"Unilateral breast hypoplasia",["One underdeveloped breast"],[3187]],[12814,"Bilateral breast hypoplasia",["Two underdeveloped breasts"],[3187]],[12815,"Hypoplastic female external genitalia",["Underdeveloped female external genitalia"],[55,3241]],[12816,"Right ventricular noncompaction cardiomyopathy",[],[12817]],[12817,"Noncompaction cardiomyopathy",["Noncompaction of the ventricular myocardium","Spongiform cardiomyopathy"],[1638]],[12818,"Biventricular noncompaction cardiomyopathy",[],[12817]],[12819,"Myocarditis",["Inflammation of heart muscle"],[1637]],[12820,"Bilateral vocal cord paralysis",[],[1605]],[12821,"Unilateral vocal cord paresis",[],[1604]],[12822,"Bilateral vocal cord paresis",[],[1604]],[12823,"Clinical modifier",["Phenotypic modifier"],[1]],[12824,"Severity",["Intensity"],[12823]],[12825,"Mild",[],[12824]],[12826,"Moderate",[],[12824]],[12827,"Borderline",[],[12824]],[12828,"Severe",[],[12824]],[12829,"Profound",[],[12824]],[12830,"Position",[],[12823]],[12831,"Laterality",[],[12830]],[12832,"Bilateral",[],[12831]],[12833,"Unilateral",[],[12831]],[12834,"Right",["Right-sided"],[12831]],[12835,"Left",["Left-sided"],[12831]],[12836,"Spatial pattern",[],[12830]],[12837,"Generalized",["Generalised"],[12836]],[12838,"Localized",["Localised"],[12836]],[12839,"Distal",["Outermost"],[12836]],[12840,"Proximal",[],[12836]],[12841,"Retinal vascular tortuosity",["Tortuous retinal vessels"],[8046]],[12842,"Skin appendage neoplasm",["Skin adnexal neoplasm","Skin adnexal tumor","Skin adnexal tumour"],[8069,11138]],[12843,"Hair follicle neoplasm",[],[12842]],[12844,"Trichilemmoma",["Tricholemmoma"],[12843]],[12845,"Single trichilemmoma",[],[12844]],[12846,"Multiple trichilemmomata",["Multiple trichilemmomas"],[12844]],[12847,"Epilepsia partialis continua",["Epilepsia partialis continua of Kojevnikov","Kojevnikov's epilepsia","Kozhevnikov's epilepsia"],[32663]],[12848,"Small intestinal stenosis",["Narrowing of small intestine"],[2244]],[12849,"Small intestinal bleeding",["Small intestinal haemorrhage","Small intestinal hemorrhage"],[2244,2584]],[12850,"Small intestinal dysmotility",[],[2579]],[12851,"Colonic stenosis",["Narrowing of the colon","Stenosis of the colon"],[2250]],[12852,"Hepatic bridging fibrosis",[],[1395]],[12853,"Scrotal hypospadias",[],[47]],[12854,"Midshaft hypospadias",[],[3244]],[12855,"Scrotal hyperpigmentation",["Hyperpigmentation of the scrotum","Hyperpigmented scrotum","Increased pigmentation in scrotum"],[45]],[12856,"Abnormal scrotal rugation",[],[45]],[12857,"Increased scrotal rugation",[],[12856]],[12858,"Decreased scrotal rugation",[],[12856]],[12859,"Esophageal leukoplakia",["Esophageal epidermoid metaplasia"],[2031]],[12860,"Testicular fibrosis",["Fibrotic testes","Fibrotic testicle"],[35]],[12861,"Ovotestis",[],[62]],[12862,"Abnormal germ cell morphology",["Abnormal shape of a reproductive cell","Abnormally shaped germ cell","Abnormally shaped reproductive cell"],[12243]],[12863,"Abnormal male germ cell morphology",[],[12862]],[12864,"Abnormal sperm morphology",["Abnormal shape of sperm","Teratospermia","Teratozoospermia"],[12863]],[12865,"Abnormal sperm head morphology",["Sperm head anomaly"],[12864]],[12866,"Abnormal sperm neck morphology",["Sperm neck anomaly"],[12864]],[12867,"Abnormal sperm mid-piece morphology",["Sperm mid-piece anomaly"],[12864]],[12868,"Abnormal sperm tail morphology",["Sperm tail anomaly"],[12864]],[12869,"Acephalic spermatozoa",[],[12865]],[12870,"Vanishing testis",["Testicular regression syndrome"],[35]],[12871,"Varicocele",["Vaginal varicocele"],[45]],[12872,"Abnormal vas deferens morphology",[],[22]],[12873,"Absent vas deferens",["Absent deferent duct","Absent ductus deferens","Congenital absence of the vas deferens"],[12872]],[12874,"Abnormal male reproductive system physiology",["Abnormal male genital system physiology"],[80]],[12875,"Abnormal ejaculation",[],[12874]],[12876,"Premature ejaculation",[],[12875]],[12877,"Retrograde ejaculation",[],[12875]],[12878,"Retarded ejaculation",["Delayed ejaculation"],[12875]],[12879,"Anejaculation",["Ejaculatory incompetence"],[12875]],[12880,"Abnormal labia minora morphology",["Abnormality of the inner vaginal lips","Abnormality of the labia minora"],[58]],[12881,"Abnormal labia majora morphology",["Abnormality of the labia majora","Abnormality of vaginal lips"],[58]],[12882,"Hyperplastic labia majora",["Enlarged labia majora","Hyperplasia of labia majora"],[12881]],[12883,"Fallopian tube cyst",[],[11027]],[12884,"Fallopian tube torsion",["Twisted fallopian tube"],[11027]],[12885,"Fallopian tube duplication",["Accessory fallopian tube"],[11027]],[12886,"Hemorrhagic ovarian cyst",[],[138]],[12887,"Ovarian serous cystadenoma",["Serous ovarian cyst"],[138]],[12888,"Abnormal uterine cervix morphology",["Abnormality of the uterine cervix"],[130]],[12889,"Cervical endometriosis",[],[12888,30127]],[12890,"Posteriorly placed anus",[],[4397]],[12891,"High posterior hairline",["High hairline at back of head"],[30141]],[12892,"Facial muscle hypertrophy",["Increased size of facial muscles","Large facial muscles","Hyperplasia of facial muscles"],[301,3712]],[12893,"Neck muscle hypertrophy",["Increased size of neck muscles","Hypertrophy of cervical muscles","Large neck muscles","Overgrowth of neck muscles","Hyperplasia of neck muscles"],[3712,11006]],[12894,"Paraspinal muscle hypertrophy",[],[3712]],[12895,"Scapular muscle hypertrophy",[],[3712]],[12896,"Abnormal motor evoked potentials",[],[430106]],[12897,"Abnormal upper-limb motor evoked potentials",["Abnormal motor evoked potentials in the upper limb"],[12896]],[12898,"Abnormal lower-limb motor evoked potentials",["Abnormal motor evoked potentials in the lower limb"],[12896]],[12899,"Handgrip myotonia",["Grip myotonia"],[2486]],[12900,"Myotonia of the face",[],[2486]],[12901,"Myotonia of the jaw",[],[2486]],[12902,"Myotonia of the lower limb",[],[2486]],[12903,"Myotonia of the upper limb",[],[2486]],[12904,"Cold-sensitive myotonia",[],[2486]],[12905,"Euryblepharon",["Kabuki syndrome eyelids"],[492]],[20001,"Clinical anophthalmos",[],[528]],[20002,"Ileal stricture",[],[1549]],[20003,"Embryo developmental arrest",[],[33335]],[20004,"Abnormal CSF guanidinoacetic acid concentration",[],[500184]],[20005,"Decreased CSF guanidinoacetic acid concentration",["Low CSF guanidinoacetic acid concentration","Reduced CSF GAA concentration"],[20004]],[20006,"Ciliary body coloboma",[],[589]],[20007,"Abnormal affect regulation",[],[25766]],[20008,"History of disease onset in winter",[],[32443]],[20009,"History of disease onset in summer",[],[32443]],[20010,"Cutaneous lesion morphology",[],[12823]],[20011,"Bleeding into skin lesions",["Hemorrhagic nature to skin lesions"],[20010]],[20012,"Crusted skin lesions",[],[20010]],[20013,"Slough",[],[33126]],[20014,"Local paresthesia at bite site",[],[3401]],[20015,"Amyloid deposition by anatomical site",[],[11034]],[20016,"Amyloid deposition by type of amyloid",[],[11034]],[20017,"Transthyretin amyloid deposition",[],[20016]],[20018,"Cerebral transthyretin amyloid deposition",[],[20017]],[20019,"Abnormal CSF 5-hydroxyindoleacetic acid concentration",[],[500183]],[20020,"Decreased CSF 5-hydroxyindoleacetic acid concentration",[],[20019]],[20021,"Hip external rotation contracture",[],[3273]],[20022,"Hip abduction contracture",[],[3273]],[20023,"Hip adduction contracture",[],[3273]],[20024,"Hip extension contracture",[],[3273]],[20025,"Hip flexion contracture",[],[3273]],[20026,"Positive Coombs test",[],[30057]],[20027,"Direct antiglobulin test positive for IgG",["IgG+ Coombs test"],[20026]],[20028,"Direct antiglobulin test positive for IgM",["IgM+ Coombs test"],[20026]],[20029,"Abnormal spinal cord white matter morphology",[],[2143]],[20030,"Abnormal spinal cord lateral corticospinal tract morphology",[],[20029]],[20031,"Direct antiglobulin test positive for C3d",[],[20026]],[20032,"Hyperreflective retinal dots on OCT",["Hyperreflective retinal foci on OCT"],[30612]],[20033,"Irregularity of the retinal pigment epithelium layer on OCT",[],[30603]],[20034,"Diffuse",[],[12836]],[20035,"Lower limb dysmetria",[],[2406]],[20036,"Upper limb dysmetria",[],[2406]],[20037,"Astasia",[],[100022]],[20038,"Vertebrobasilar dolichoectasia",[],[30321]],[20039,"Retinal thickening on OCT",[],[20040]],[20040,"Abnormal anteroposterior retina thickness on OCT",[],[30603]],[20041,"Double elevator palsy",[],[25068]],[20042,"Double depressor palsy",[],[25068]],[20043,"Vertical incomitant strabismus",[],[25068]],[20044,"Horizontal incomitant strabismus",[],[25068]],[20045,"Esodeviation",["Convergent squint","Convergent strabismus"],[486]],[20046,"Accommodative esotropia",[],[565]],[20047,"Abnormal myeloid cell morphology",[],[5561]],[20048,"Reduced bone-marrow pro-B cell count",[],[5561]],[20049,"Exodeviation",["Divergent strabismus"],[486]],[20050,"Anti-granulocyte-macrophage colony stimulating factor antibody positivity",["Anti-GM-CSF antibody positivity"],[30057]],[20051,"Abnormal seminiferous tubule morphology",[],[35]],[20052,"Necrotizing lymph node granuloma",[],[20229]],[20053,"Abnormal marker expression",[],[20228]],[20054,"Abnormal erythrocyte physiology",[],[1871]],[20055,"Diminished MLH1 expression",[],[20053]],[20056,"Diminished MSH2 expression",[],[20053]],[20057,"Diminished MSH6 expression",[],[20053]],[20058,"Abnormal red blood cell count",["Abnormal RBC count"],[1877]],[20059,"Increased red blood cell count",["Increased RBC count"],[20058]],[20060,"Decreased red blood cell count",["Decreased RBC count"],[20058]],[20061,"Abnormal hemoglobin concentration",["Abnormal Hb concentration","Abnormal haemoglobin concentration"],[1877]],[20062,"Decreased hemoglobin concentration",["Decreased Hb concentration","Decreased haemoglobin concentration"],[20061]],[20064,"Abnormal total eosinophil count",[],[1879,32309]],[20065,"Diminished PMS2 expression",[],[20053]],[20066,"Pathological inclusion body by subcellular location",[],[6001025]],[20067,"Pathological inclusion body by anatomical location",[],[6001025]],[20068,"Intranuclear inclusion bodies",[],[20066]],[20069,"Appendicular location",["Skin lesions on limbs"],[12836]],[20070,"Exposure to humid conditions",[],[4000110]],[20071,"Viremia",[],[31863]],[20072,"Persistent EBV viremia",["Chronic EBV viremia","Persistent EBV viraemia","Recurrent EBV viremia"],[32248,5210286]],[20073,"Hypopigmented macule",[],[12733]],[20074,"Crystalluria",[],[3110]],[20075,"Leucine crystalluria",[],[20074]],[20076,"Wrist ganglion",["Ganglion cyst of the wrist"],[25798]],[20077,"Carnitinuria",["Carnitine high in urine"],[31980]],[20078,"Alaninuria",["Increased urinary alanine"],[33100]],[20079,"Beta-alaninuria",["Beta-alanine high in urine","Elevated urinary beta-alanine level","Hyper-beta-alaninuria"],[33098]],[20080,"Erythrocyte inclusion bodies",[],[1877]],[20081,"Pappenheimer bodies",[],[20080]],[20082,"Heinz bodies",[],[20080]],[20083,"Furuncle",["Boil"],[25084]],[20084,"Carbuncle",[],[25084]],[20085,"Infection following live vaccination",[],[32101]],[20086,"BCGitis",[],[5210408]],[20087,"BCGosis",["BCGiosis","Disseminated Bacillus Calmette-Guerin infection"],[5210408]],[20088,"Post-vaccination measles",["Vaccine associated measles"],[20085]],[20089,"Post-vaccination rubella",[],[20085]],[20090,"Post-vaccination polio",[],[20085]],[20091,"Post-vaccination rotavirus infection",[],[20085]],[20092,"Histopathological abnormality",[],[20228]],[20093,"Recurrent deep organ abscess formation",[],[32169]],[20094,"Squamous metaplasia",[],[20092]],[20095,"Prolonged need of intravenous antibiotic therapy",[],[32169]],[20096,"Recurrent streptococcal infections",[],[2718]],[20097,"Infection due to encapsulated bacteria",[],[5210000]],[20099,"Severe norovirus infection",["Disseminated norovirus infection"],[31691,5210310]],[20100,"Unusual fungal infection",[],[32101]],[20101,"Invasive fungal infection",[],[20100]],[20102,"Pneumocystis jirovecii pneumonia",["Pneumocystis carinii pneumonia"],[32255]],[20103,"Invasive pulmonary aspergillosis",[],[20101]],[20104,"Unusual protozoan infection",[],[32101]],[20105,"Severe Toxoplasma infection",["Disseminated toxoplasmosis","Invasive toxoplasmosis","Severe toxoplasmosis"],[5210127]],[20106,"Severe giardiasis",[],[20104]],[20107,"Unusual helminthic infection",[],[32101]],[20108,"Unusual parasitic infection",[],[32101]],[20109,"Glomerular basement membrane duplication",["Double contour of glomerular basement membrane","GBM duplication","GBM reduplication","Tram-track appearance of GBM"],[33282]],[20110,"Bone fracture",[],[11842]],[20111,"Abnormal regulatory T cell proportion",["Abnormal CD4+CD25+ Treg cell proportion","Abnormal CD4+CD25+ regulatory T cell proportion","Abnormal Treg proportion","Abnormal proportion of regulatory T cells","Abnormal CD4-positive, CD25-positive regulatory T cell count"],[31392]],[20112,"Increased regulatory T cell proportion",["Elevated CD4-positive, CD25-positive regulatory T cell count","Elevated proportion of CD4+CD25+ regulatory T cells","Increased proportion of CD4+CD25+ Treg cells","Increased proportion of CD4+CD25+ regulatory T cells","Increased proportion of Treg cells","Increased proportion of regulatory T cells"],[20111]],[20113,"Decreased regulatory T cell proportion",["Decreased proportion of CD4+CD25+ Treg cells","Decreased proportion of CD4+CD25+ regulatory T cells","Decreased proportion of regulatory T cells","Reduced proportion of CD4+CD25+ regulatory T cells","Absence of CD4+CD25+ Tregs"],[20111]],[20114,"Persistent human papillomavirus infection",["Chronic HPV infection","Persistent HPV infection"],[32169]],[20115,"Abnormal CD8+ T cell subset proportion",["Abnormal CD8+ T cell subsets"],[25540]],[20116,"Subcutaneous abscess",[],[25615]],[20117,"Hypoplastic dermoepidermal hemidesmosomes",[],[32449]],[20118,"Radial artery aplasia",[],[31640]],[20119,"Abnormal retinal nerve fiber layer morphology",["Abnormal retinal nerve fibre layer morphology"],[479]],[20120,"Retinal nerve fiber edema",["Retinal nerve fibre oedema"],[20119]],[20121,"Conception by assisted reproductive technology",[],[32443]],[20122,"Bite cells",["Blister cells","Degmacytes"],[4447]],[20123,"Tympanosclerosis",["Tympanic calcification"],[8609]],[20124,"Echopraxia",[],[6000768]],[20125,"Spontaneous conjunctival filtering bleb",["Conjunctival avascular cysts (filtering blebs)","Spontaneous filtering bleb"],[502]],[20126,"Prostate mass",[],[8775]],[20127,"Periarticular soft-tissue mass",[],[1367]],[20128,"Aplasia of the olfactory tract",[],[100547]],[20129,"Abnormal urine protein level",[],[33354]],[20130,"Increased urinary neutrophil gelatinase-associated lipocalin",["Increased urinary NGAL"],[20129]],[20131,"Abnormal tubular basement membrane morphology",[],[91]],[20132,"Thickening of the tubular basement membrane",[],[20131]],[20133,"Podocyte hypertrophy",["Glomerular visceral epithelial cell hypertrophy","Hypertrophy of visceral epithelial cells"],[31265]],[20134,"Increased urine neutrophil count",[],[12085]],[20135,"Myofibromatosis",[],[31459]],[20136,"Anticardiolipin IgG antibody positivity",[],[3613]],[20137,"Anticardiolipin IgM antibody positivity",[],[3613]],[20138,"History of recent animal bite",[],[4000144]],[20139,"History of recent insect bite",[],[4000144]],[20140,"History of recent tick bite",[],[20139]],[20141,"Blood pressure substantially higher in legs than arms",["Blood pressure substantially higher in lower than upper extremities","Blood pressure substantially lower in arms than legs","Blood pressure substantially lower in upper than lower extremities"],[30972]],[20142,"Blood pressure substantially higher in arms than legs",["Blood pressure substantially higher in upper than lower extremities","Increased arm-leg blood pressure gradient"],[30972]],[20143,"Tracheal duplication cyst",[],[2778]],[20144,"Calcium phosphate crystalluria",[],[20074]],[20145,"Calcium oxalate crystalluria",[],[20074]],[20146,"Calcium carbonate crystalluria",[],[20074]],[20147,"2-Methylbutyryl glycinuria",[],[33097]],[20148,"Increased circulating mead acid level",[],[3455]],[20149,"Elevated circulating succinate",[],[10995]],[20150,"Elevated urinary uromodulin level",["Elevated urinary Tamm-Horsfall protein concentration"],[34885]],[20151,"Anti-dsDNA antibody positivity",["Anti-double-stranded DNA antibody positivity"],[20359]],[20152,"Distal joint hypermobility",["Distal joint laxity"],[430046]],[20153,"Positive blood 1,3 beta glucan test",[],[410172]],[20154,"Nevus comedonicus",[],[10816]],[20155,"Abnormal oocyte morphology",[],[25461]],[20156,"Abnormal zona pellucida morphology",[],[20155]],[20157,"Thin zona pellucida",[],[20156]],[20158,"Increased circulating adrenic acid concentration",["Increased circulating docosatetraenoate level"],[4359]],[20159,"Reduced response to gonadotropin-releasing hormone stimulation test",["Reduce response to GnRH stimulation test"],[31279]],[20160,"GM1-ganglioside accumulation",[],[4345]],[20161,"Branch retinal artery occlusion",[],[25326]],[20162,"Abnormal neoplastic cell morphology",[],[20092]],[20163,"Cilioretinal arteriolar hypoperfusion",["Cilioretinal artery occlusion"],[630]],[20164,"Ophthalmic artery occlusion",[],[630]],[20165,"Branch retinal vein occlusion",["Branch retinal vein obstruction"],[12636]],[20166,"Central retinal vein occlusion",[],[12636]],[20167,"Hemiretinal vein occlusion",[],[12636]],[20168,"Tumor signet ring cell",[],[20162]],[20169,"Abnormal drug response",[],[1939]],[20170,"Increased blood drug concentration",["Elevated blood drug concentration","Elevated plasma drug concentration","Elevated serum drug concentrations","Increased plasma drug concentration","Increased serum drug concentration"],[20169]],[20171,"Decreased blood drug concentration",["Decreased plasma drug concentration","Decreased serum drug concentration","Reduced blood drug concentration","Reduced plasma drug concentration","Reduced serum drug concentrations"],[20169]],[20172,"Adverse drug response",["Adverse drug reaction","Drug-induced reaction","Drug-induced response","Toxic drug response"],[20169]],[20173,"Reduced drug efficacy",["Decreased drug efficacy"],[20169]],[20174,"Refractory drug response",["Drug resistance"],[20169]],[20175,"Reduced circulating cholinesterase activity",["Reduced cholinesterase level"],[12379]],[20176,"Cholesterol crystalluria",[],[20074]],[20177,"Abnormal CD8+ TEMRA T cell proportion",["Abnormal CD8-positive TEMRA T cell proportion","Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated"],[410380]],[20178,"Abnormal dendritic cell count",[],[11893]],[20179,"Abnormal circulating haptoglobin concentration",["Abnormal haptoglobin level"],[10876]],[20180,"Elevated circulating haptoglobin concentration",["Elevated haptoglobin concentration","Elevated haptoglobin level","Elevated haptoglobin level in blood","Increased haptoglobin concentration","Increased haptoglobin level","Increased haptoglobin level in blood"],[20179]],[20181,"Decreased circulating haptoglobin concentration",["Decreased haptoglobin concentration","Decreased haptoglobin level","Decreased haptoglobin level in blood","Reduced haptoglobin concentration","Reduced haptoglobin level","Reduced haptoglobin level in blood"],[20179]],[20182,"Abnormal circulating A-type atrial natriuretic peptide concentration",["Abnormal A-type atrial natriuretic peptide level"],[6000692]],[20183,"Increased circulating A-type natriuretic peptide concentration",["Increased circulating A-type natriuretic peptide level"],[20182]],[20184,"Decreased circulating A-type natriuretic peptide concentration",["Decreased circulating A-type natriuretic peptide level"],[20182]],[20185,"Superior cerebellar dysplasia",[],[7033]],[20186,"Multilobulated spleen",["Multi-lobulated spleen"],[25408]],[20187,"Thick pachygyria",["Pachygyria with cortical thickness > 10 mm","Pachygyria with cortical thickness above 10 mm"],[1302]],[20188,"Anterior predominant pachygyria with 5-10 mm cortical thickness",[],[20192]],[20189,"Posterior predominant thick cortex pachygyria",["Occipital predomimant classic pachygyria","Pachygyria with cortical thickness over 10 mm posterior predominant"],[20187]],[20190,"Perisylvian predominant thick cortex pachygyria",["Pachygyria with cortical thickness > 10 mm perisylvian predominant"],[20187]],[20191,"Anterior predominant thick cortex pachygyria",["Pachygyria with cortical thickness > 10 mm anterior predominant"],[20187]],[20192,"Pachygyria with 5-10 mm cortical thickness",[],[1302]],[20193,"Prolonged reptilase time",[],[1928]],[20194,"IgA heavy chain paraproteinemia",["Alpha heavy chain disease"],[31049]],[20195,"IgG heavy chain paraproteinemia",["Gamma heavy-chain disease"],[31049]],[20196,"IgM heavy chain paraproteinemia",[],[31049]],[20197,"Increased circulating arachidonic acid concentration",["Increased circulating arachidonate level","Increased circulating arachidonic acid level"],[10964]],[20198,"Abnormal circulating 18-hydroxycorticosterone level",[],[12112]],[20199,"Decreased circulating 18-hydroxycortisone level",[],[20198]],[20200,"Increased circulating 18-hydroxycortisone level",[],[20198]],[20201,"Abnormal sarcomere morphology",[],[4303]],[20202,"Abnormal Z disk morphology",[],[20201]],[20203,"Z-band streaming",[],[20202]],[20204,"Tubulointerstitial bacterial infiltration",["Renal tubulointerstitial bacterial organisms"],[32635]],[20205,"Tubulointerstitial fungal infiltration",["Renal tubulointerstitial fungal organisms"],[32635]],[20206,"Simple ear",[],[377]],[20207,"Reflex seizure",[],[1250]],[20208,"Eating-induced seizure",[],[20207]],[20209,"Hot water-induced seizure",[],[20207]],[20210,"Praxis-induced seizure",[],[20207]],[20211,"Proprioceptive-induced seizure",[],[20207]],[20212,"Reading-induced seizure",[],[20207]],[20213,"Somatosensory-induced seizure",[],[20207]],[20214,"Startle-induced seizure",[],[20207]],[20215,"Thinking-induced seizure",["Cognition induced seizure"],[20207]],[20216,"Visually-induced seizure",["Photosensitive seizure"],[20207]],[20217,"Focal aware motor seizure",["Focal motor aware seizure"],[2349,11153]],[20218,"Focal aware atonic seizure",[],[20217,20220]],[20219,"Motor seizure",[],[1250]],[20220,"Focal atonic seizure",["Localised atonic seizure","Localised hypotonic seizure","Localized atonic seizure","Localized hypotonic seizure","Partial atonic seizure","Partial hypotonic seizure","Segmental atonic seizure","Segmental hypotonic seizure"],[10819,11153]],[20221,"Clonic seizure",[],[20219]],[20222,"Hypohomocysteinemia",["Lower blood homocysteine"],[10919]],[20223,"Dermal sinus tract",[],[34238]],[20224,"Mammary duct ectasia",[],[31093]],[20225,"Breast abscess",[],[25615,31093]],[20226,"Nipple tenderness",[],[12531]],[20227,"Floating gallbladder",[],[12437]],[20228,"Biospecimen phenotypic feature",[],[1]],[20229,"Abnormal lymph-node biospecimen",[],[20228]],[20230,"Abnormal lymph-node tissue architecture",[],[20229]],[20231,"Abnormal lymph-node cellular finding",[],[20229]],[20232,"Abnormal Q wave",["Pathological Q wave"],[25074]],[20233,"Abnormal lymph-node cellular antigen expression",[],[20229]],[20234,"Altered lymph-node tissue architecture",["Distorted lymph node architecture"],[20230]],[20235,"Effaced lymph-node architecture",[],[20234]],[20236,"Vaguely nodular lymph-node architecture",[],[20234]],[20237,"Lymph-node capsular invasion by lymphocytes",[],[20230]],[20238,"Lymph-node extracapsular extension by lymph-node lymphocytes",[],[20230]],[20239,"Increased lymph-node epithelioid histiocyte count",[],[20231]],[20240,"Scattered lymph node individual epithelioid histiocytes",[],[20239]],[20241,"Clustered lymph node epithelioid histiocytes",[],[20239]],[20242,"Abnormal lymph-node follicle architecture",["Abnormal follicular lymph-node architecture"],[20230]],[20243,"Floral-pattern lymph node follicles",["Floral follicular lymph node architecture","Floral growth pattern"],[20242]],[20244,"Colonization of follicles by lymphoma cells",["Follicular colonisation","Follicular colonization"],[20242]],[20245,"Crowded lymph-node follicles",["Crowded follicles"],[20242]],[20246,"Lymph-node follicular lysis",["Follicular lysis"],[20242]],[20247,"Non-polarized lymph node germinal centers",[],[20255]],[20248,"Irregularly shaped lymph node germinal centers",[],[20255]],[20249,"Abnormal lymph-node marginal or mantle zone morphology",[],[20242]],[20250,"Abnormal lymph node marginal zone morphology",[],[20249]],[20251,"Abnormal lymph node mantle zone morphology",[],[20249]],[20252,"Abnormal bursal fluid morphology",[],[1367]],[20253,"Lymph node with expanded mantle zones",["Germinal centers with expanded mantle zones","Germinal centres with expanded mantle zones"],[20251]],[20254,"Lymph node with poorly defined germinal center borders",[],[20255]],[20255,"Abnormal lymph-node germinal center morphology",[],[20242]],[20256,"Elevated bursal fluid leukocyte count",[],[20252]],[20257,"Mantle zone pattern",[],[20251]],[20258,"Germinal centers with absent marginal zones",[],[20250]],[20259,"Decreased biparietal diameter",["Decreased BPD"],[6001417]],[20260,"Increased biparietal diameter",["Increased BPD"],[6001417]],[20261,"Poorly defined primary lymph-node follicles",[],[20242]],[20262,"Progressive transformation of germinal centers",["PTGC"],[20255]],[20263,"Absent germinal center tingible body macrophages",[],[20255]],[20264,"Lack of germinal center mitotic figures",[],[20255]],[20265,"Non-polarized mantle zones",[],[20251]],[20266,"Hyalinized lymph-node vessels",[],[20230]],[20267,"Lymph-node follicular sclerosis",["Follicular sclerosis"],[20242]],[20268,"Compressed lymph-node sinuses",[],[20230]],[20269,"Lymph-node proliferation centers",["Pseudofollicles"],[20230]],[20270,"Cytologic atypia in mantle cells",[],[20231]],[20271,"Increased lymph-node eosinophils",[],[20231]],[20272,"Increased lymph-node plasma cells",[],[20231]],[20273,"High lymph node non-germinal center mitotic activity",[],[20231]],[20274,"Lymph-node lymphocyte monocytoid morphology",[],[20231]],[20275,"Reduced lymph node lymphocyte morphological variability",["Monomorphic cells"],[20231]],[20276,"Increased large lymphocytes in lymph node",[],[20231]],[20277,"Hodgkin morphology cells",[],[20231]],[20278,"Abnormal lymph-node lymphoctye nuclear morphology",[],[20231]],[20279,"Irregular lymph-node lymphocyte nuclei",[],[20278]],[20280,"Lymph-node Dutcher bodies",[],[20231]],[20281,"Finely dispersed lymph node lymphocyte chromatin",[],[20282]],[20282,"Abnormal lymph-node lymphocyte chromatin",[],[20278]],[20283,"Clumping of lymph node lymphocyte chromatin",[],[20282]],[20284,"Abnormal lymph-node lymphocyte cytoplasm morphology",[],[20231]],[20285,"Decreased lymph node lymphocyte cytoplasm",["Scant lymph node lymphocyte cytoplasm"],[20284]],[20286,"Increased lymph node lymphocyte cytoplasm",[],[20284]],[20287,"Abnormal level of lymph-node cellular CD19 expression",[],[20288]],[20288,"Abnormal lymph-node cellular B-cell marker expression",[],[20233]],[20289,"Abnormal level of lymph-node cellular CD20 expression",[],[20288]],[20290,"CD79a expression",[],[430091]],[20291,"Increased lymph-node cellular CD20 expression",[],[20289]],[20292,"Decreased lymph-node cellular CD20 expression",[],[20289]],[20293,"Decreased lymph-node cellular CD19 expression",[],[20287]],[20294,"Increased lymph-node cellular CD19 expression",[],[20287]],[20295,"PAX5 expression",[],[430091]],[20296,"Germinal center B-lymphocyte BCL2 expression",[],[20233]],[20297,"Abnormal occipitofrontal diameter",[],[34245]],[20298,"Decreased occipitofrontal diameter",[],[20297]],[20299,"Increased occipitofrontal diameter",[],[20297]],[20300,"Abnormal elbow morphology",[],[9811]],[20301,"Abnormal elbow physiology",[],[9811]],[20302,"Restrictive eating",["Anorexia nervosa"],[100738]],[20303,"Abnormal fetal abdominal circumference",[],[34207]],[20304,"Increased fetal abdominal circumference",[],[20303]],[20305,"Abnormal fetal head circumference",[],[34245]],[20306,"Decreased fetal head circumference",[],[20305]],[20307,"Increased fetal head circumference",[],[20305]],[20308,"Increased anteroposterior lens thickness",[],[11526]],[20309,"Ankle instability",[],[34674]],[20310,"Retinal phlebitis",[],[25188]],[20311,"Ophthalmic artery hypoperfusion",[],[630]],[20312,"Focal hyperpigmented area associated with subretinal scar tissue",[],[11512]],[20313,"Discrete fundus hypopigmentation",[],[7894]],[20314,"Macular pseudohole",[],[1103]],[20315,"Lamellar macular hole",[],[1103]],[20316,"Middle cerebral artery berry aneurysm",[],[7029]],[20317,"Abnormal abdominal aorta branch artery morphology",[],[11004]],[20318,"Posterior humeral circumflex artery occlusion",[],[11004]],[20319,"Scapulothoracic incongruity",[],[782]],[20320,"Latissimus dorsi rupture",[],[9127]],[20321,"Distal clavicular osteolysis",[],[889]],[20322,"Abnormal breast-tissue biospecimen",[],[20228]],[20323,"Abnormal breast-tissue cellular antigen expression",[],[20322]],[20324,"Increased breast-tissue HER2 expression",["HER2 positive breast tissue"],[20323]],[20325,"Increased breast-tissue estrogen receptor expression",["Estrogen receptor positive in breast"],[20323]],[20326,"Increased breast-tissue progesterone receptor expression",[],[20323]],[20327,"Abnormal breast-tissue cellular finding",[],[20322]],[20328,"Mammary ductal epithelial cell hyperplasia",[],[20327]],[20329,"Mammary ductal apocrine metaplasia",[],[20327]],[20330,"Abnormal circulating inorganic anion concentration",[],[3111]],[20331,"Blue-field entoptic phenomenon",["Visual snow"],[6001103]],[20332,"Phosphene",[],[6001103]],[20333,"Palinopsia",[],[504]],[20334,"Positive scapular compression test",["Positive scapular assistance test"],[25823]],[20335,"Pectoralis major tear",["Pectoralis major rupture"],[11957]],[20336,"Increased urinary 18-oxocortisol level",[],[12029]],[20337,"Increased urinary 18-hydroxycortisol level",[],[12029]],[20338,"Malignant melanotic nerve sheath tumor",[],[30448]],[20339,"Increased mucosal-associated invariant T cell proportion",["Elevated MAIT cell proportion","Increased MAIT cell frequency"],[20340]],[20340,"Abnormal mucosal-associated invariant T cell proportion",[],[25540]],[20341,"Unusual periodontitis",[],[5210280]],[20342,"Unusual stomatitis",["Unusual infectious stomatitis","Unusual oral mucosal infection"],[10280,5210280]],[20343,"Unusual pharyngitis",[],[25439,5210121]],[20344,"Abnormal mental imagery",["Abnormality of mental imagery","Altered mental imagery"],[25792]],[20345,"Aphantasia",[],[20344]],[20346,"Hyperphantasia",[],[20344]],[20347,"Abnormal circulating monosaccharide concentration",[],[11013]],[20348,"Abnormal circulating disaccharide concentration",[],[11013]],[20349,"Abnormal circulating sugar alcohol concentration",[],[11013]],[20350,"Abnormal circulating vitamin concentration",[],[32180]],[20351,"Abnormal CSF folate concentration",[],[25454]],[20352,"Lisfranc injury",["Lisfranc fracture-dislocation"],[1832]],[20354,"Abnormal dental physiology",[],[31815]],[20355,"Dental hypermobility",[],[20354]],[20356,"Antichromatin antibody positivity",[],[3493]],[20357,"Head and neck squamous cell carcinoma",[],[12288]],[20358,"Positive stool Cyclospora cayetanensis oocyst test",[],[34866]],[20359,"Anti-nucleosome antibody positivity",[],[20356]],[20360,"Decreased circulating insulin-like growth factor binding protein 1 concentration",[],[10876]],[25002,"Abnormal cecum morphology",["Abnormal caecum morphology"],[2250]],[25003,"Flail chest",[],[2793]],[25004,"Hallux rigidus",["Arthritis of the big toe"],[1844]],[25005,"Thickening of glomerular capillary wall",[],[25006]],[25006,"Abnormal glomerular capillary morphology",["Abnormalities of the glomerular capillary wall"],[95]],[25007,"Ectopic fovea",["Ectopic macula"],[493]],[25008,"Tracheal tug on inspiration",[],[2795]],[25009,"Forward slanting upper incisors",["Forward directed upper incisors","Proclination of the upper incisors","Protruding upper incisors"],[11062]],[25010,"Foveal atrophy",[],[493]],[25011,"Pyriform aperture stenosis",[],[5105]],[25012,"Status cribrosum",[],[2134]],[25013,"Decerebrate rigidity",["Decerebrate posturing"],[2063]],[25014,"Subcutaneous spheroids",[],[1482]],[25015,"Abnormal vascular morphology",[],[2597,30680]],[25016,"Abnormal capillary morphology",[],[33353]],[25017,"Capillary fragility",[],[25018]],[25018,"Abnormal capillary physiology",[],[30163]],[25019,"Arterial rupture",[],[25323]],[25020,"Elevated circulating prostate-specific antigen concentration",["Elevated prostate-specific antigen concentration","Elevated prostate-specific antigen level","Elevated prostate-specific antigen level in blood","Increased prostate-specific antigen concentration","Increased prostate-specific antigen level","Increased prostate-specific antigen level in blood"],[10876]],[25021,"Abnormal erythrocyte sedimentation rate",["Abnormal ESR","Abnormal Westergren sedimentation rate"],[1939]],[25022,"Decreased erythrocyte sedimentation rate",["Decreased ESR","Low ESR"],[25021]],[25023,"Rectal atresia",["Atresia of the rectum"],[2034,11100]],[25024,"Megarectum",[],[2034]],[25025,"Rectovestibular fistula",["Vestibular fistula"],[100590]],[25026,"H-type rectovestibular fistula",[],[25025]],[25027,"Osteoma cutis",["Cutaneous osteosis","Miliary osteoma","Osteomatosis"],[200036]],[25028,"Abnormal enteric nervous system morphology",["Abnormality of enteric nervous system morphology"],[2242,12331]],[25029,"Abnormal enteric neuron morphology",["Abnormality of enteric neuron morphology"],[25028]],[25030,"Enteric neuronal degeneration",["Degenerative enteric neuropathy"],[25029]],[25031,"Abnormality of the digestive system",[],[118]],[25032,"Abnormality of digestive system physiology",[],[25031]],[25033,"Abnormal digestive system morphology",["Abnormality of digestive system morphology"],[25031]],[25034,"Abnormal morphology of erythroid progenitor cell",[],[12130]],[25035,"Abnormal proerythroblast morphology",[],[12130]],[25036,"Type I radial ray deficiency",["Short distal radius"],[6433]],[25037,"Hypothalamic gliosis",[],[2171]],[25038,"Intratesticular abscess",["Testicular abscess"],[35,25615]],[25039,"Basal ganglia edema",["Edema of the basal ganglia","Oedema of the basal ganglia"],[2134]],[25040,"Thalamic edema",["Edema of the thalamus","Oedema of the thalamus"],[10663]],[25041,"Thalamic calcification",[],[10663]],[25042,"Abnormality of mesenteric lymph nodes",[],[2733]],[25043,"Enlarged mesenteric lymph node",[],[25042]],[25044,"Lung abscess",["Pulmonary abscess"],[11947,25615]],[25045,"Abnormal brain lactate level by MRS",["Abnormal lactate level by magnetic resonance spectroscopy"],[12705]],[25046,"Reduced brain lactate level by MRS",["Reduced brain lactate level by magnetic resonance spectroscopy"],[25045]],[25047,"Abnormal brain choline level by MRS",["Abnormal brain choline level by magnetic resonance spectroscopy"],[12705]],[25048,"Reduced brain choline level by MRS",["Reduced brain choline level by magnetic resonance spectroscopy"],[25047]],[25049,"Abnormal brain creatine level by MRS",["Abnormal brain creatine level by magnetic resonance spectroscopy"],[12705]],[25050,"Elevated brain creatine level by MRS",["Elevated brain creatine level by magnetic resonance spectroscopy"],[25049]],[25051,"Reduced brain creatine level by MRS",["Low brain creatine phosphate","Reduced brain creatine level by magnetic resonance spectroscopy"],[25049]],[25052,"Abnormal brain N-acetyl aspartate level by MRS",["Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy"],[12705]],[25053,"Elevated brain N-acetyl aspartate level by MRS",["Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy"],[25052]],[25054,"Type II radial ray deficiency",[],[6433]],[25055,"Type III radial ray deficiency",[],[6433]],[25056,"Type IV radial ray deficiency",[],[6433]],[25057,"Abnormal olfactory lobe morphology",["Abnormality of olfactory lobe morphology"],[100547]],[25058,"Hypothalamic atrophy",["Atrophy of the hypothalamus"],[12286]],[25059,"Splenic abscess",[],[25408,32166]],[25060,"Multifocal splenic abscess",["Multilocular splenic abscess"],[25059]],[25061,"Unifocal splenic abscess",["Solitary splenic abscess","Unilocular splenic abscess"],[25059]],[25062,"Geophagia",["Geophagy"],[11856]],[25063,"Scaphoid abdomen",[],[11458]],[25064,"Thalamic hemorrhage",[],[10663]],[25065,"Abnormal mean corpuscular volume",["Abnormal MCV","Abnormal erythrocyte volume"],[1877]],[25066,"Decreased mean corpuscular volume",["Decreased MCV","Microcytosis","Reduced erythrocyte volume"],[25065]],[25067,"Recurrent sepsis",[],[100806]],[25068,"Incomitant strabismus",[],[486]],[25069,"Concomitant strabismus",["Comitant strabismus"],[486]],[25070,"Abnormal U wave",[],[3115]],[25071,"U wave inversion",[],[25070]],[25072,"Prominent U wave",["Increased U wave amplitude"],[25070]],[25073,"Exercise-induced U wave inversion",[],[25071]],[25074,"Abnormal QRS complex",[],[3115]],[25075,"Increased QRS voltage",[],[25076]],[25076,"Abnormal QRS voltage",[],[25074]],[25077,"Decreased QRS voltage",[],[25076]],[25078,"Electrical alternans",[],[25076]],[25079,"Pancreatic abscess",["Pancreas abscess"],[12090,25615]],[25080,"Orthokeratotic hyperkeratosis",[],[962]],[25081,"Darier's sign",[],[1025]],[25082,"Abnormal cutaneous elastic fiber morphology",["Abnormal cutaneous elastic fibre morphology"],[11121]],[25083,"Elevated dermal desmosine content",[],[34924]],[25084,"Folliculitis",["Follicular pustule","Hair follicle inflammation"],[11123]],[25085,"Bloody diarrhea",["Blood in stool","Bloody stool","Bloody bowel movement"],[2014]],[25086,"Bloody mucoid diarrhea",[],[25085]],[25087,"Delayed recoil upon stretching of skin",[],[8067]],[25088,"Onychomadesis",[],[1806]],[25089,"Feculent vomiting",["Faecal vomiting","Fecal vomiting","Stercoraceous vomiting","Vomiting faecal matter","Vomiting fecal matter"],[2013]],[25090,"Abnormal large intestinal mucosa morphology",[],[2250]],[25091,"Wrist sign",[],[100807]],[25092,"Epidermal acanthosis",["Acanthosis","Acanthotic epidermis","Thickening of upper layer of skin","Epidermal hyperplasia"],[11124]],[25093,"Peripapillary exudate",["Peripapillary exudation"],[1147]],[25094,"Disciform macular scar",[],[200056]],[25095,"Sneeze",[],[25142]],[25096,"Paroxysmal sneezing",[],[25095]],[25097,"Eyelid myoclonus",["Blepharoclonus","Eyelid myoclonia"],[1336]],[25098,"Dysgenesis of the hypothalamus",["Hypothalamic dysgenesis"],[12286]],[25099,"Dysgenesis of the thalamus",["Thalamic dysgenesis"],[10663]],[25100,"Abnormal hippocampus morphology",["Abnormal morphology of the hippocampus","Abnormality of hippocampus morphology"],[7343]],[25101,"Dysgenesis of the hippocampus",["Hippocampal dysgenesis"],[25100]],[25102,"Dysgenesis of the basal ganglia",["Basal ganglia dysgenesis"],[2134]],[25103,"Umbilicated nodule",[],[200036]],[25104,"Capillary malformation",[],[11355]],[25105,"Nevus anemicus",["Naevus anaemicus"],[25104]],[25106,"Nevus roseus",[],[25104]],[25107,"Cutis marmorata telangiectatica congenita",[],[25104]],[25108,"Angioma serpentinum",[],[25104]],[25109,"Reduced red cell pyruvate kinase level",["Reduced erythrocyte pyruvate kinase activity"],[30272]],[25110,"Placoid macular lesion",[],[30500]],[25111,"Acquired aphakia",[],[6001302]],[25112,"Auditory sensitivity",["Noise sensitivity"],[5200058]],[25113,"Misophonia",[],[5200060]],[25114,"Hypergranulosis",[],[11368]],[25115,"Civatte bodies",["Colloid bodies","Colloid bodies of Civatte","Cytoid bodies","Hyaline bodies"],[11124]],[25116,"Fetal distress",["Foetal distress"],[34059]],[25117,"Rete ridge flattening",["Flattened rete pegs","Flattened rete ridges"],[34767]],[25118,"Lip discoloration",[],[32453]],[25119,"Violet lip discoloration",[],[25118]],[25120,"Abnormal circulating reverse T3 concentration",[],[31508]],[25122,"Sawtooth acanthosis",["Sawtoothed acanthosis"],[25092]],[25123,"White streaks/specks on enamel",[],[11073]],[25124,"Fragile teeth",["Enamel with tendency to chip","Spontaneous tooth fracture"],[6482]],[25125,"White lesion of the oral mucosa",[],[11830]],[25126,"Oral hairy leukoplakia",["EBV-associated oral hairy leukoplakia","OHL"],[25125,5210280]],[25127,"Actinic keratosis",["Solar keratosis"],[8069]],[25128,"Reduced intraabdominal adipose tissue",[],[40063]],[25129,"Abnormal small intestinal mucosa morphology",[],[2244]],[25130,"Decreased small intestinal mucosa lactase level",["Lactase deficiency"],[12379,25129]],[25131,"Finger swelling",["Swelling of fingers","Swollen finger","Swollen fingers"],[1167]],[25132,"Abnormal circulating estrogen level",["Abnormal estrogen level","Abnormal oestrogen level"],[33799]],[25133,"Abnormal serum estradiol",[],[25132]],[25134,"Increased serum estradiol",["Increased estradiol level","Increased serum oestradiol"],[25133]],[25135,"Abnormal serum estriol",[],[25132]],[25136,"Increased serum estriol",[],[25135]],[25137,"Decreased serum estriol",[],[25135]],[25138,"Abnormal serum estrone",[],[25132]],[25139,"Increased serum estrone",[],[25138]],[25140,"Decreased serum estrone",[],[25138]],[25141,"Gingival calcification",["Gingival calcifications"],[168,10766]],[25142,"Constitutional symptom",[],[118]],[25143,"Chills",[],[25142]],[25144,"Shivering",["Shuddering"],[25142]],[25145,"Rigors",["Rigours"],[25143,25144]],[25146,"Foveal degeneration",[],[493,608]],[25147,"Beaten bronze macular sheen",["Beaten metal macular appearance","Beaten-bronze macular appearance","Beaten-bronze macular sheen"],[8002]],[25148,"Dark choroid",[],[610,30604]],[25149,"Atrophic muscularis propria",["Autonomic visceral myopathy","Degenerative enteric myopathy"],[30935]],[25150,"Hypoganglionosis",[],[4362]],[25151,"Ganglioneuromatosis",[],[4362]],[25152,"Poor visual behavior for age",["Abnormal visual behavior for age","Abnormal visual behaviour for age"],[504]],[25153,"Transient",[],[11008]],[25154,"Portosystemic collateral veins",["Collateral biliary circulation","Collateral biliary veins"],[12440]],[25155,"Abnormal hepatobiliary system physiology",[],[25032]],[25156,"Dependency on intravenous nutrition",["Dependency on IV nutrition"],[25032]],[25157,"Increased urinary sedoheptulose",[],[31979]],[25158,"Hyperautofluorescent retinal lesion",["Retinal lipofuscin accumulation"],[30602]],[25159,"Hypoautofluorescent retinal lesion",["Hypo-autofluorescent retinal lesion"],[30602]],[25160,"Abnormal temper tantrums",[],[5200241]],[25161,"Frequent temper tantrums",[],[25160]],[25162,"Severe temper tantrums",[],[25160]],[25163,"Abnormal optic chiasm morphology",["Abnormality of optic chiasm morphology"],[587]],[25164,"Increased number of elastic fibers in the dermis",["Increased number of elastic fibres in the dermis"],[25082]],[25165,"Clumping of elastic fibers in the dermis",["Clumping of elastic fibres in the dermis"],[25082]],[25166,"Thickened elastic fibers in the dermis",["Thickened elastic fibres in the dermis"],[25082]],[25167,"Fragmented elastic fibers in the dermis",["Fragmented elastic fibres in the dermis"],[25082]],[25168,"Left ventricular diastolic dysfunction",[],[5162]],[25169,"Left ventricular systolic dysfunction",[],[5162]],[25170,"Neuronal/glioneuronal neoplasm of the central nervous system",["Glioneuronal tumor","Glioneuronal tumour","Neuronal and mixed neuronal-glial tumor","Neuronal and mixed neuronal-glial tumour","Neuronal/glioneuronal neoplasm of the CNS"],[30063,100006]],[25171,"Rosette-forming glioneuronal tumor",["Rosette-forming glioneuronal neoplasm","Rosette-forming glioneuronal tumor of the fourth ventricle","Rosette-forming glioneuronal tumour of the fourth ventricle"],[25170]],[25172,"Smooth septal thickening on pulmonary HRCT",[],[30879]],[25173,"Nodular septal thickening on pulmonary HRCT",[],[30879]],[25174,"Irregular septal thickening on pulmonary HRCT",[],[30879]],[25175,"Honeycomb lung",["Honeycomb cysts","Honeycombing"],[5948,6530]],[25176,"Intralobular interstitial thickening",[],[6530]],[25177,"Peribronchovascular interstitial thickening",[],[6530]],[25178,"Subpleural interstitial thickening",["Subpleural scarring"],[31630]],[25179,"Ground-glass opacification",["GGO","Ground glass opacities","Ground-glass opacification on pulmonary HRCT"],[31457]],[25180,"Centrilobular ground-glass opacification on pulmonary HRCT",["Centrilobular groundglass opacification","Centrilobular groundglass opacity"],[25179]],[25181,"Abdominal aseptic abscess",[],[1438]],[25182,"Localized area of pendulous skin",["Localised area of pendulous skin"],[8067]],[25183,"Abnormal total CD4+ T cell number",[],[25540]],[25184,"Arousal parasomnia",["Arousal related sleep disturbance"],[25234]],[25186,"Marcus Gunn jaw winking synkinesis",["Marcus Gunn jaw-winking syndrome","Pterygoid-levator synkinesis","Trigemino-oculomotor synkinesis"],[496]],[25187,"Sleep talking",["Somniloquy"],[5200300]],[25188,"Retinal vasculitis",[],[8046]],[25189,"Hypnic jerks",["Sleep starts"],[5200300]],[25190,"Bilateral tonic-clonic seizure with generalized onset",["Bilateral tonic-clonic seizure with generalised onset","Generalised tonic-clonic seizure without focal onset","Generalised tonic-clonic seizure without partial onset","Generalised tonic-clonic seizures without focal onset","Generalised-onset tonic-clonic seizure","Generalized tonic-clonic seizure without focal onset","Generalized tonic-clonic seizure without partial onset","Generalized tonic-clonic seizures without focal onset","Generalized-onset tonic-clonic seizure","Primarily generalised tonic-clonic seizures","Primarily generalized tonic-clonic seizures","Primary generalised tonic-clonic seizure","Primary generalised tonic-clonic seizures","Primary generalized tonic-clonic seizure","Primary generalized tonic-clonic seizures"],[2069,32677]],[25192,"Subtentorial periventricular white matter hyperdensity",[],[30891]],[25193,"Posterolateral diaphragmatic hernia",["Bochdalek hernia"],[776]],[25194,"Morgagni diaphragmatic hernia",["Morgagni hernia"],[776]],[25195,"Central diaphragmatic hernia",["Central hernia"],[776]],[25196,"Increased total iron binding capacity",[],[33212]],[25197,"Inclusion body fibromatosis",["Digital fibrous tumor of Reye","Digital fibrous tumour of Reye","Infantile digital fibroma","Infantile digital fibromatosis"],[12316]],[25198,"Inflammatory cap polyp",[],[5266]],[25199,"Fragmented sleep",["Broken sleep","Fitful sleep","Interrupted sleep","Restless sleep"],[4000064]],[25200,"Muscle fiber actin filament accumulation",["Muscle fibre actin filament accumulation"],[100299]],[25201,"Abnormal circulating apolipoprotein concentration",["Abnormal apolipoprotein level"],[10876]],[25202,"Elevated circulating apolipoprotein A-IV concentration",["Elevated apolipoprotein A-IV concentration","Elevated apolipoprotein A-IV level","Elevated apolipoprotein A-IV level in blood","Increased apolipoprotein A-IV concentration","Increased apolipoprotein A-IV level","Increased apolipoprotein A-IV level in blood"],[33460]],[25203,"Caput medusae",["Palm tree sign"],[30168]],[25204,"Triggered by",[],[12823]],[25205,"Triggered by breast feeding",["Breastfeeding triggered symptoms","Triggered by breastfeeding"],[33793]],[25206,"Triggered by cold",["Cold triggered symptoms","Triggered by cold temperature"],[25204]],[25207,"Triggered by dehydration",["Dehydration triggered symptoms"],[25204]],[25208,"Triggered by carbohydrate ingestion",["Carbohydrate ingestion triggered symptoms"],[33793]],[25209,"Triggered by fructose ingestion",["Triggered by fruit sugar"],[25208]],[25210,"Triggered by glucose ingestion",[],[25208]],[25211,"Triggered by ethanol ingestion",["Triggered by alcohol ingestion","Ethanol ingestion triggered symptoms"],[33793]],[25212,"Triggered by fasting",["Fasting triggered attacks","Fasting triggered symptoms"],[25204]],[25213,"Triggered by galactose ingestion",["Triggered by ingestion of lactose-containing milk"],[25208]],[25214,"Triggered by heat",["Heat triggered symptoms"],[25204]],[25215,"Triggered by febrile illness",["Febrile illness triggered symptoms","Triggered by fever"],[25204]],[25216,"Triggered by heavy meal",["Heavy meal triggered symptoms","Triggered by overeating"],[33793]],[25217,"Triggered by high-fat diet",["High-fat diet triggered symptoms"],[33793]],[25218,"Triggered by hyperventilation",["Hyperventilation triggered symptoms"],[25204]],[25219,"Triggered by vaccination",["Triggered by immunisation","Triggered by immunization","Vaccination triggered symptoms"],[25204]],[25220,"Triggered by menstruation",["Menstruation triggered symptoms","Triggered by monthly period","Triggered by period"],[25204]],[25221,"Triggered by pregnancy",["Pregnancy triggered symptoms"],[25204]],[25222,"Triggered by sleep deprivation",["Sleep deprivation triggered symptoms"],[25204]],[25223,"Triggered by smoking",["Smoking triggered symptoms","Triggered by cigarette consumption","Triggered by tobacco use"],[25204]],[25224,"Triggered by sodium ingestion",["Sodium ingestion triggered symptoms","Sodium intake triggered attacks","Triggered by Na ingestion","Triggered by Na+ ingestion","Triggered by sodium intake","Triggered by salt ingestion"],[33793]],[25225,"Triggered by sound",["Sound triggered symptoms"],[25204]],[25226,"Triggered by stress",["Stress triggered symptoms"],[25204]],[25227,"Triggered by excitement",["Excitement triggered symptoms","Triggered by startle"],[25204]],[25228,"Triggered by sudden movement",["Kinesigenic","Sudden movement triggered symptoms"],[25204]],[25229,"Triggered by vestibular stimulation",["Vestibular stimulation triggered attacks","Vestibular stimulation triggered symptoms"],[25204]],[25230,"Tendonitis",["Teninitis"],[100261]],[25231,"Abnormal synovial bursa morphology",["Abnormality of synovial bursa morphology"],[1367]],[25232,"Bursitis",[],[25231]],[25233,"Sleep paralysis",[],[5200293,5200299]],[25234,"Parasomnia",["Event that disrupts sleep"],[2360]],[25235,"NREM parasomnia",["Disturbance in NREM","Non-rapid eye movement parasomnia"],[25234]],[25236,"Sleep walking",["Somnambulism"],[25235,5200300]],[25238,"Foot pain",[],[12514]],[25240,"Preretinal hemorrhage",["Preretinal haeme","Preretinal haemorrhage","Preretinal heme","Subhyaloid haemorrhage","Subhyaloid heme","Premacular hemorrhage","Subhyaloid hemorrhage"],[31803]],[25241,"Flame-shaped retinal hemorrhage",["Feathered retinal heme","Flame-shaped retinal haemorrhage","Linear retina heme"],[31805]],[25242,"Dot-and-blot retinal hemorrhage",["Dot-and-blot retinal haemorrhage","Round retinal heme"],[31805]],[25243,"Subretinal hemorrhage",["Subretinal haemorrhage","Subretinal heme"],[573]],[25244,"Sub-retinal pigment epithelium haemorrhage",["Sub-RPE hemorrhage","Subretinal pigment epithelium haemorrhage","Subretinal pigment epithelium hemorrhage"],[573]],[25245,"Cutaneous cyst",["Skin cyst"],[11355]],[25246,"Trichilemmal cyst",["Pilar cyst"],[25245]],[25247,"Dermoid cyst",[],[25245]],[25248,"Eruptive vellus hair cyst",[],[25245]],[25249,"Comedo",[],[11355]],[25250,"Closed comedo",["Whitehead"],[25249]],[25251,"Open comedo",["Blackhead"],[25249]],[25252,"Geographic tongue",["Annulus migrans","Benign migratory glossitis","Glossitis areata exfoliativa","Lingual erythema migrans","Wandering rash of the tongue"],[30809]],[25253,"Claustrophobia",[],[5200232]],[25254,"Ameliorated by",["Improved by"],[12823]],[25255,"Ameliorated by pregnancy",["Pregnancy relieves symptoms"],[25254]],[25256,"Ameliorated by heat",["Heat improves condition","Heat improves symptom","Fever improves condition"],[25254]],[25257,"Ameliorated by carbohydrate ingestion",[],[25254]],[25258,"Stiff neck",["Neck stiffness"],[1387,5986]],[25259,"Stiff elbow",["Elbow stiffness"],[1387]],[25260,"Stiff wrist",["Wrist stiffness"],[1387]],[25261,"Stiff finger",["Finger stiffness"],[1387]],[25262,"Stiff hip",["Hip stiffness"],[1387]],[25263,"Stiff knee",["Knee stiffness"],[1387]],[25264,"Stiff ankle",["Ankle stiffness"],[1387]],[25265,"Stiff toe",["Toe stiffness"],[1387]],[25267,"Snoring",["Snore","Snores","Snoring symptoms"],[5200283]],[25268,"Stuttering",["Stammering"],[2167]],[25269,"Panic attack",[],[739]],[25270,"Abnormal esophagus physiology",["Abnormality of esophagus physiology","Abnormality of oesophagus physiology","Functional abnormality of the esophagus","Functional abnormality of the oesophagus"],[12719]],[25271,"Esophageal spasms",[],[25270]],[25272,"Melasma",["Chloasma","Facial melanosis"],[953]],[25273,"Achilles tendonitis",[],[25230]],[25274,"Ovarian dermoid cyst",["Mature cystic ovarian teratoma"],[138,12226]],[25275,"Lateral",[],[12836]],[25276,"Abnormality of skin adnexa physiology",[],[1574]],[25277,"Gustatory sweating",[],[25276]],[25278,"Cold-induced sweating",[],[25276]],[25279,"Migratory",[],[11008]],[25280,"Pain characteristic",[],[12823]],[25281,"Sharp",["Stabbing pain"],[25280]],[25282,"Dull",["Dull pain"],[25280]],[25283,"Tender",[],[25280]],[25284,"Sleep-interrupting",[],[25280]],[25285,"Aggravated by",["Exacerbated by"],[12823]],[25286,"Aggravated by activity",["Aggravated by exercise","Aggravated by exertion","Worse with activity","Worsened by activity"],[25285]],[25287,"Axial",[],[12836]],[25288,"Excessive sleep",["Prolonged sleep duration","Sleeping too much"],[2360]],[25289,"Cervical lymphadenopathy",["Swollen lymph nodes in the neck"],[2716]],[25290,"Upper-body predominance",[],[12838]],[25291,"Lower-body predominance",[],[12838]],[25292,"Acral",[],[12836]],[25293,"Distributed along Blaschko lines",[],[12836]],[25294,"Dermatomal",["Radicular"],[12836]],[25295,"Herpetiform",[],[12836]],[25296,"Morbilliform",[],[12836]],[25297,"Prolonged",[],[11008]],[25298,"Extended nighttime sleep",["Long nighttime sleep","Prolonged nocturnal sleep"],[25288]],[25299,"Frequent napping",["Frequent daytime naps"],[25288]],[25300,"Malar rash",["Butterfly rash","Cheekbone rash"],[988]],[25301,"Nocturnal",[],[11008]],[25302,"Diurnal",[],[11008]],[25303,"Episodic",["Now and then"],[31796]],[25304,"Periodic",["Cyclic","Cyclical"],[31796]],[25305,"Quotidian",[],[25304]],[25306,"Acute emergence over minutes",[],[11009]],[25307,"Acute emergence over hours",[],[11009]],[25308,"Acute emergence over days",[],[11009]],[25309,"Abnormal pupil shape",["Irregular pupil"],[615]],[25310,"Oval pupil",[],[25309]],[25311,"Anterior chamber cyst",[],[593]],[25312,"Esophoria",[],[20045,32011]],[25313,"Exophoria",[],[20049,32011]],[25314,"Choroidal nevus",[],[610]],[25315,"Exacerbated by head trauma",[],[25285]],[25317,"Cubitus varus",[],[20300]],[25318,"Ovarian carcinoma",["Ovarian epithelial cancer"],[100615]],[25320,"Leakage of dye on fundus fluorescein angiography",["Fluorescein leakage"],[30604]],[25321,"Copper accumulation in liver",["Liver copper accumulation"],[34644]],[25322,"Venous occlusion",[],[30846]],[25323,"Abnormal arterial physiology",[],[30163]],[25324,"Arterial occlusion",[],[25323]],[25325,"Sparse medial eyebrow",["Medial thinning of eyebrow"],[45075]],[25326,"Retinal arterial occlusion",["Retinal artery occlusion"],[630]],[25327,"Decreased renal parenchymal thickness",[],[12210]],[25328,"Antepartum hemorrhage",["Antepartum haemorrhage","Prepartum haemorrhage","Prepartum hemorrhage"],[11029]],[25329,"Anti-glutamic acid decarboxylase antibody positivity",["Anti-GAD antibody positivity"],[30057]],[25330,"Downgaze palsy",["Downgaze paresis","Supranuclear downgaze palsy"],[511]],[25331,"Upgaze palsy",["Supranuclear upgaze palsy","Upgaze paresis"],[511]],[25332,"Abnormality of foot cortical bone",["Abnormality of the cortex of foot bones"],[3103]],[25333,"Cortical thinning of foot bones",[],[25332]],[25334,"Triggered by emotion",["Emotion triggered symptoms"],[25204]],[25335,"Delayed ability to stand",[],[2194]],[25336,"Delayed ability to sit",[],[2194]],[25337,"Red eye",["Red eyes"],[8047]],[25338,"Circumlimbal hyperemia",["Ciliary limbus","Circumlimbal hyperaemia"],[30953]],[25339,"Superficial episcleral hyperemia",["Superficial episcleral hypaeremia"],[591,25337]],[25340,"Deep episcleral hyperemia",["Deep episcleral hyperaemia"],[591,25337]],[25341,"Corneal keratic precipitates",[],[11488]],[25342,"Central retinal artery occlusion",[],[3000032]],[25343,"Lupus anticoagulant",[],[30057]],[25344,"Interlobular bile duct destruction",[],[11040]],[25345,"Abnormal circulating beta-2-microglobulin concentration",["Abnormal beta-2-microglobulin level","Abnormality of circulating B2M level","Abnormality of circulating beta2 microglobulin level","Abnormality of circulating beta2-m level","Abnormality of circulating beta2m level"],[25465]],[25346,"Elevated circulating beta-2-microglobulin concentration",["Elevated beta-2-microglobulin concentration","Elevated beta-2-microglobulin level","Elevated beta-2-microglobulin level in blood","Elevated circulating beta-2-microglobulin level","Increased beta-2-microglobulin concentration","Increased beta-2-microglobulin level","Increased beta-2-microglobulin level in blood"],[25345]],[25347,"Decreased circulating beta-2-microglobulin concentration",["Decreased beta-2-microglobulin concentration","Decreased beta-2-microglobulin level","Decreased beta-2-microglobulin level in blood","Reduced beta-2-microglobulin concentration","Reduced beta-2-microglobulin level","Reduced beta-2-microglobulin level in blood","Reduced circulating beta-2-microglobulin level"],[25345]],[25348,"Abnormal corneal limbus morphology",["Abnormality of the corneal limbus"],[481]],[25349,"Limbal edema",["Limbal oedema"],[25348]],[25350,"Giant conjunctival papillae",[],[30946]],[25351,"Recurrent interdigital mycosis",["Recurrent interdigital tinea"],[2841]],[25352,"Typically de novo",["Autosomal dominant germline de novo mutation"],[34335]],[25353,"Anti-multiple nuclear dots antibody positivity",["Anti-MND antibodies"],[3493]],[25354,"Abnormal cellular phenotype",[],[118]],[25355,"Retinal arteriolar macroaneurysms",[],[630]],[25357,"Erratic myoclonus",["Fragmentary myoclonus"],[1336]],[25358,"Uveal ectropion",["Ectropion uveae"],[525]],[25359,"Polygonal renal calices",["Polygonal calices","Polygonal-shaped calices"],[11130]],[25360,"Polycalycosis",[],[11130]],[25361,"Abnormal medullary pyramid morphology",["Abnormality of medullary pyramid morphology"],[100957]],[25362,"Renal medullary pyramid hypoplasia",["Hypoplasia of the medullary pyramids"],[25361]],[25363,"Glomerular endocapillary hypercellularity",["Endocapillary hypercellularity"],[25006]],[25364,"Glomerular extracapillary hypercellularity",["Extracapillary glomerular hypercellularity","Extracapillary hypercellularity"],[95]],[25365,"Free-running sleep pattern",["Non-24 sleep pattern"],[6979]],[25367,"Trichoepithelioma",[],[12843]],[25368,"Abnormal growth plate morphology",["Abnormality of growth plate morphology"],[11842]],[25369,"Thick growth plates",[],[25368]],[25370,"Abnormal ossification of the sacrum",[],[5107]],[25371,"Delayed ossification of the sacrum",[],[25370]],[25372,"Loud snoring",["Has loud snoring","Have loud snoring","Heavy snoring","Snores loudly"],[25267]],[25373,"Interictal EEG abnormality",[],[2353]],[25374,"Duplicated odontoid process",[],[3310]],[25375,"Orthotopic os odontoideum",[],[5667]],[25376,"Hyperglutaminuria",["Glutamine high in urine","Glutaminuria"],[33093]],[25377,"Triggered by exertion",["Exertion triggered symptoms","Triggered by physical exercise"],[25204]],[25379,"Anti-thyroid peroxidase antibody positivity",["Anti-TPO antibody positivity","Antimicrosomal antibodies","Antimicrosomal antibody positivity","TPOAbs"],[430050]],[25380,"Increased circulating androstenedione concentration",["Increased serum androstenedione"],[30348,33811]],[25381,"Anti-pituitary antibody positivity",[],[30057]],[25382,"Hypodipsia",[],[30082]],[25383,"Dorsocervical fat pad",["Buffalo hump"],[1001]],[25384,"Diet-resistant subcutaneous adipose tissue",[],[9124]],[25385,"Diet-resistant subcutaneous adipose tissue below waist",[],[25384]],[25386,"Bitemporal hollowing",[],[606]],[25387,"Pill-rolling tremor",["Pill rolling"],[2322]],[25388,"Thyroid nodule",[],[11772]],[25389,"Pulmonary interstitial high-resolution computed tomography abnormality",["Pulmonary interstitiatial HRCT abnormality"],[6530,31983]],[25390,"Reticular pattern on pulmonary HRCT",[],[25389]],[25391,"Crazy paving pattern",["Crazy paving pattern on pulmonary HRCT","Crazy-paving pattern"],[25389]],[25392,"Nodular pattern on pulmonary HRCT",[],[25389]],[25393,"Reticulonodular pattern on pulmonary HRCT",[],[25389]],[25394,"Cystic pattern on pulmonary HRCT",[],[25389]],[25395,"Combined cystic and ground-glass pattern on pulmonary HRCT",[],[31457]],[25396,"Decreased attenuation pattern on pulmonary HRCT",["Black lung pattern on pulmonary HRCT"],[25389]],[25397,"Mosaic attenuation pattern on pulmonary HRCT",[],[25389]],[25398,"Nodular-perilymphatic pattern on pulmonary HRCT",[],[25392]],[25399,"Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT",[],[25392]],[25400,"Nodular-random pattern on pulmonary HRCT",[],[25392]],[25401,"Staring gaze",["Episodes of staring","Staring episodes","Staring eyes"],[12373]],[25402,"Square-wave jerks",[],[32114]],[25403,"Stooped posture",[],[100022]],[25404,"Abnormal visual fixation",[],[496]],[25405,"Visual fixation instability",["Instability of ocular fixation"],[25404]],[25406,"Asthenia",["Lack of energy and strength","Weakness","Prostration"],[25142]],[25407,"Rectourethral fistula",["Urethrorectal fistula"],[10480,100590]],[25408,"Abnormal spleen morphology",["Splenic lesion"],[1743]],[25409,"Abnormal spleen physiology",[],[1743]],[25410,"Splenogonadal fusion",[],[812,25408]],[25413,"Fossa navicularis urethral stricture",[],[12227]],[25414,"Pendulous urethral stricture",[],[12227]],[25415,"Bulbar urethral stricture",[],[12227]],[25416,"Vaginal stricture",[],[142]],[25417,"Patulous urethra",[],[795]],[25418,"Renal cortical necrosis",["Necrosis of the kidney cortex"],[11035,32618]],[25419,"Pulmonary pneumatocele",["Pulmonary pneumatocoele"],[32445]],[25420,"Diffuse alveolar hemorrhage",["Diffuse alveolar haemorrhage"],[40223]],[25421,"Pneumomediastinum",[],[45026]],[25422,"Pleural cyst",[],[2103]],[25423,"Abnormal larynx morphology",[],[1600]],[25424,"Abnormal larynx physiology",[],[1600]],[25425,"Laryngospasm",[],[25424]],[25426,"Abnormal bronchus morphology",["Abnormality of the bronchi"],[5607]],[25427,"Abnormal bronchus physiology",[],[2795]],[25429,"Abnormal cry",[],[1608]],[25430,"High-pitched cry",[],[25429]],[25431,"Staccato cry",[],[25429]],[25432,"Acanthoma",[],[8069]],[25433,"Decreased lecithin cholesterol acyl transferase level",[],[12379]],[25434,"Reduced circulating CH50 activity",["Decreased total hemolytic complement activity","Reduced CH50","Reduced circulating 50% hemolytic complement (CH50) activity","Reduced hemolytic complement activity"],[31904]],[25435,"Increased circulating lactate dehydrogenase concentration",["Increased circulating LDH concentration","Increased lactate dehydrogenase level"],[45040]],[25436,"Elevated serum 11-deoxycortisol",["Elevated serum 21-hydroxyprogesterone","Elevated serum deoxycorticosterone"],[3118]],[25437,"Macrozoospermia",["Macrocephalic sperm head"],[12865]],[25439,"Pharyngitis",[],[33151]],[25440,"Warm reactive autoantibody positivity",[],[6000388]],[25441,"Achilles tendon calcification",["Calcification of the Achilles tendon"],[5109]],[25443,"Abnormal cardiac atrial physiology",[],[11025]],[25444,"Reduced amygdala volume",["Decrease in amygdala volume"],[33668]],[25445,"Abnormal papillary muscle morphology",["Morphological abnormality of the papillary muscles"],[1711]],[25446,"Anomalous insertion of papillary muscle directly into anterior mitral leaflet",[],[25445]],[25447,"Displacement of the papillary muscles",[],[25445]],[25448,"Anterior displacement of the papillary muscles",["Anteriorly displaced papillary muscles"],[25447]],[25449,"Apically displaced anterolateral papillary muscle",["Apically displaced papillary muscles"],[25447]],[25451,"Testicular adrenal rest tumor",["Testicular adrenal rest tumour"],[10788]],[25452,"Pyoderma gangrenosum",[],[200042]],[25453,"Delayed adrenarche",[],[823]],[25454,"Abnormal CSF metabolite concentration",["Abnormal CSF metabolite level","Abnormal cerebrospinal fluid metabolite concentration"],[1939,2921]],[25455,"Decreased CSF 5-hydroxyindolacetic acid concentration",["Decreased CSF 5-HIAA","Low CSF 5-HIAA","Low CSF 5-hydroxyindolacetic acid"],[25454]],[25456,"Abnormal CSF protein concentration",["Abnormal CSF protein level"],[1939,2921]],[25457,"Decreased CSF protein concentration",["Decreased CSF protein","Decreased cerebrospinal fluid total protein","Hypoproteinorrhachia","Low CSF total protein"],[25456]],[25458,"Decreased CSF albumin concentration",["Low CSF albumin"],[500238]],[25459,"Increased CSF/serum albumin ratio",[],[30981]],[25460,"High myoinositol in brain by MRS",["High myo-inositol in brain by MRS"],[12705]],[25461,"Abnormal cell morphology",[],[25354]],[25463,"Abnormality of redox activity",[],[11017]],[25464,"Increased reactive oxygen species production",["Increased ROS production","Oxidative stress"],[25463]],[25465,"Abnormal circulating beta globulin concentration",[],[32179]],[25466,"Beta 2-microglobulinuria",[],[20129]],[25469,"Anagen effluvium",[],[11362]],[25470,"Telogen effluvium",[],[11362]],[25471,"Congenital panfollicular nevus",[],[3764]],[25472,"Recurrent plantar mycosis",[],[2841]],[25473,"Hyperpigmented papule",[],[200034]],[25474,"Erythematous plaque",["Violaceous plaque"],[200035]],[25475,"Erythematous macule",[],[12733]],[25476,"Testicular lipomatosis",[],[35,1012]],[25477,"Periarticular calcification",[],[10766]],[25478,"Atrial standstill",["Silent atrium"],[5115]],[25479,"Self-neglect",[],[745]],[25480,"Lipomyelomeningocele",[],[34238]],[25481,"Cervical hemivertebrae",[],[2937]],[25482,"Positive perchlorate discharge test",[],[2926]],[25483,"Abnormal circulating thyroglobulin concentration",["Abnormal circulating thyroglobulin level","Abnormal thyroglobulin level"],[10876]],[25484,"Elevated circulating thyroglobulin concentration",["Elevated thyroglobulin concentration","Elevated thyroglobulin level","Elevated thyroglobulin level in blood","Increased circulating thyroglobulin level","Increased thyroglobulin concentration","Increased thyroglobulin level","Increased thyroglobulin level in blood"],[25483]],[25485,"Vaginal adenosis",[],[142]],[25486,"Fused labia majora",[],[12881]],[25487,"Abnormal bladder morphology",["Abnormality of bladder morphology"],[14]],[25488,"Detrusor sphincter dyssynergia",[],[9]],[25489,"Bladder duplication",[],[25487]],[25490,"Myocardial bridging",["Intramyocardial coronary artery course"],[11686]],[25491,"Venous stenosis",[],[2624]],[25492,"Microcoria",[],[615,7700]],[25493,"Palmoplantar erythema",[],[10783]],[25494,"Coated aorta",[],[1679]],[25495,"Descending aorta hypoplasia",[],[31934]],[25496,"Abnormal coronary artery physiology",[],[25323]],[25497,"Coronary artery spasm",["Coronary artery vasospasm"],[25496]],[25498,"Aceruloplasminemia",["Aceruloplasminaemia"],[33144]],[25499,"Class I obesity",["Obesity grade 1"],[1513]],[25500,"Class II obesity",["Obesity grade 2"],[1513]],[25501,"Class III obesity",["Obesity grade 3"],[1513]],[25502,"Overweight",[],[4324]],[25503,"Anomalous coronary artery arising from the opposite sinus",[],[11636]],[25505,"Anomalous origin of the circumflex artery from the right sinus of Valsalva",[],[11636]],[25506,"Coronary artery sandwich anomaly",["Anomalous coronary artery with aortic origin and course between the great arteries"],[25503]],[25507,"Yellow papule",["Yellow-orange papule"],[200034]],[25508,"Gottron's papules",["Gottron papules"],[200034]],[25509,"Piezogenic pedal papules",[],[200034]],[25510,"Nevus spilus",["Speckled lentiginous Nevus"],[3764]],[25511,"Nevus sebaceus",[],[3764]],[25512,"Skin-colored papule",["Flesh-colored papule"],[200034]],[25513,"Scleral rupture",[],[591]],[25514,"Morning glory anomaly",["Morning glory disc anomaly","Morning glory disk anomaly","Morning glory optic disc"],[587]],[25515,"Delayed thelarche",[],[823]],[25516,"Coronary-pulmonary artery fistula",[],[11641]],[25517,"Hypoplastic hippocampus",["Small hippocampus","Underdeveloped hippocampus"],[25100]],[25518,"Visual gaze preference",[],[496]],[25519,"Multiple biliary hamartomas",["Multiple bile duct hamartomas","Von Meyenburg complexes","Biliary hamartoma"],[100574]],[25520,"Calcinosis cutis",["Cutaneous calcification"],[10766]],[25521,"Increased body fat percentage",[],[1507]],[25522,"Elongated chordae tendinae of the mitral valve",[],[25523]],[25523,"Abnormal morphology of the chordae tendinae of the mitral valve",[],[1633]],[25524,"Palmoplantar scaling skin",["Palmoplantar psoriasis"],[40189]],[25525,"Scaling skin on fingertip",[],[40189]],[25526,"Psoriasiform lesion",["Psoriatic-like lesion","Erythemato-squamous plaque","Erythematosquamous plaque"],[40189]],[25527,"Serpiginous cutaneous lesion",["Serpiginous eruption"],[11355]],[25528,"Annular cutaneous lesion",[],[11355]],[25529,"Hyperpigmented nodule",[],[200036]],[25530,"Xanthomas of the palmar creases",["Xanthoma palmare striatum","Xanthoma striatum palmare"],[991]],[25531,"Harlequin phenomenon",[],[11122]],[25532,"Positive pathergy test",[],[11122]],[25533,"Peau d'orange",[],[969]],[25534,"Ocular melanocytosis",["Melanosis oculi","Ocular melanosis"],[591]],[25535,"Shawl sign",[],[10783]],[25536,"V-sign",[],[10783]],[25537,"Plantar edema",["Plantar oedema"],[100872]],[25538,"Palmar edema",["Palmar oedema"],[40211]],[25539,"Abnormal B cell subset distribution",[],[2846]],[25540,"Abnormal T cell subset number",["Abnormal alpha-beta T cell morphology"],[2843]],[25546,"Abnormal mean corpuscular hemoglobin concentration",["Abnormal MCH","Abnormal MCHC","Abnormal mean corpuscular Hb concentration","Abnormal mean corpuscular haemoglobin","Abnormal mean corpuscular haemoglobin concentration"],[1877]],[25547,"Decreased mean corpuscular hemoglobin concentration",["Decreased MCH","Decreased MCHC","Decreased mean corpuscular Hb concentration","Decreased mean corpuscular haemoglobin","Decreased mean corpuscular haemoglobin concentration"],[25546]],[25548,"Increased mean corpuscular hemoglobin concentration",["Increased MCH","Increased MCHC","Increased mean corpuscular Hb concentration","Increased mean corpuscular haemoglobin","Increased mean corpuscular haemoglobin concentration"],[25546]],[25549,"Eccentric visual fixation",["Eccentric fixation"],[25404]],[25550,"Elevated circulating ribitol concentration",["Increased circulating ribitol concentration","Increased level of ribitol in serum"],[20349]],[25551,"Optic nerve misrouting",["Optic pathway misrouting","Visual pathway misrouting"],[587]],[25552,"Periorbital purpura",[],[606]],[25553,"Periorbital ecchymosis with tarsal plate sparing",["Raccoon eyes"],[606]],[25554,"Yellow nodule",[],[200036]],[25555,"Periungual teleangiectasia",[],[100585]],[25558,"Lamellar cataract with riders",[],[7971]],[25559,"Coronary cataract",[],[10920]],[25560,"Anterior chamber cells",[],[593]],[25561,"Anterior chamber cells grade 1+",[],[25560]],[25562,"Anterior chamber cells grade 0.5+",[],[25560]],[25563,"Anterior chamber cells grade 0",[],[25560]],[25564,"Anterior chamber cells grade 2+",[],[25560]],[25565,"Anterior chamber cells grade 3+",[],[25560]],[25566,"Anterior chamber cells grade 4+",[],[25560]],[25567,"Central serous chorioretinopathy",[],[532]],[25569,"Polypoidal choroidal vasculopathy",[],[610]],[25570,"Choroidal vascular hyperpermeability",["Choroidal hyperpermeability"],[610,30605]],[25571,"Christmas tree cataract",[],[518]],[25572,"Punctal stenosis",["Lacrimal punctum stenosis","Stenosis of the lacrimal punctum"],[11479]],[25573,"Mild myopia",[],[545]],[25574,"Macular hemorrhage",["Macular haemorrhage"],[573,1103]],[25575,"Abnormal superior vena cava morphology",[],[5345]],[25576,"Abnormal inferior vena cava morphology",[],[5345]],[25578,"Aortic valve prolapse",[],[1646]],[25579,"Abnormal left atrium morphology",[],[5120]],[25580,"Abnormal right atrium morphology",[],[5120]],[25581,"Foveal hemorrhage",["Foveal haemorrhage"],[25574]],[25582,"Submacular hemorrhage",["Sub-macular haemorrhage","Sub-macular hemorrhage","Submacular haemorrhage"],[25243,25574]],[25583,"Tapetal-like fundal reflex",[],[1098]],[25584,"Hypotropia",[],[25588,32012]],[25585,"Hyperphoria",[],[25587,32011]],[25586,"Hypertropia",[],[25587,32012]],[25587,"Hyperdeviation",[],[486]],[25588,"Hypodeviation",[],[486]],[25589,"Cyclodeviation",[],[486]],[25590,"Abnormal extraocular muscle physiology",[],[12373]],[25591,"Abnormal superior oblique muscle physiology",[],[31739]],[25592,"Superior oblique muscle weakness",["Superior oblique palsy"],[25591]],[25593,"Superior oblique muscle restriction",[],[25592]],[25594,"Superior oblique muscle overaction",[],[25591]],[25595,"Superior oblique muscle underaction",["Under-depression in adduction"],[25592]],[25596,"Abnormal inferior oblique muscle physiology",[],[31739]],[25597,"Inferior oblique muscle restriction",[],[25598]],[25598,"Inferior oblique muscle weakness",["Inferior oblique palsy"],[25596]],[25599,"Inferior oblique muscle overaction",[],[25596]],[25600,"Abnormal inferior rectus muscle physiology",[],[31748]],[25601,"Inferior rectus muscle weakness",[],[25600]],[25602,"Inferior rectus muscle restriction",[],[25601]],[25603,"Abnormal superior rectus muscle physiology",[],[31748]],[25604,"Orbital schwannoma",[],[100012]],[25605,"Lid lag on downgaze",["Eyelid lag","Lid lag","von Graefe sign"],[31785]],[25606,"Abnormal medial rectus muscle physiology",[],[31740]],[25607,"Upper eyelid entropion",[],[621]],[25608,"Cicatricial ectropion",[],[656]],[25609,"Anterior blepharitis",[],[498]],[25610,"Posterior blepharitis",["Meibomian gland dysfunction","Meibomian gland disease"],[498]],[25611,"Epicanthus superciliaris",[],[286]],[25612,"Corneal astigmatism",[],[483]],[25613,"Focal emotional seizure",["Affective seizure","Emotional seizure","Focal affective seizure","Partial emotional seizure"],[32679]],[25615,"Abscess",[],[32251]],[25616,"Sterile abscess",[],[25615]],[25617,"Abnormal total plasma cell count",[],[2846]],[25618,"Reduced plasma cell count",[],[25617]],[25619,"Elevated plasma cell count",[],[25617]],[25624,"Decreased effector memory CD4+ T cell proportion",["Decreased proportion of CD4-positive effector memory T cells","Decreased proportion of effector memory CD4-positive, alpha-beta T cells"],[410386,5210409]],[25625,"Increased effector memory CD4+ T cell proportion",["Increased CD4+ effector memory T cell proportion","Increased effector memory CD4-positive T cell proportion","Increased proportion of CD4+ effector memory T cells","Increased proportion of CD4-positive effector memory T cells","Increased proportion of effector CD4-positive, alpha-beta T cells"],[410391,5210409]],[25626,"Increased circulating oleate level",[],[3455]],[25627,"Increased circulating octadecanoate level",[],[3455]],[25628,"Increased circulating myristoleate level",[],[3455]],[25629,"Anti-myelin-associated glycoprotein antibody positivity",[],[30057]],[25630,"Argininosuccinic aciduria",[],[33097]],[25631,"Alpha-aminobutyric aciduria",[],[40156]],[25633,"Abnormal ureter morphology",[],[69]],[25634,"Abnormal ureter physiology",[],[69]],[25635,"Ureteral polyp",["Polyp of the ureter","Ureter polyp"],[100516]],[25636,"Endometritis",["Endometrial inflammation","Inflammation of the inner lining of the uterus"],[30126]],[25637,"Vasospasm",["Angiospasm","Blood vessel spasm","Vascular spasm"],[25323]],[25638,"Elevated urinary N-butyrylglycine",[],[40156]],[25639,"Increased urinary zinc level",[],[25640]],[25640,"Abnormal urinary mineral level",[],[3110]],[25641,"Elevated circulating glycolate concentration",[],[10996]],[25643,"Tarlov cyst",["Perineural cyst"],[30724]],[25644,"Fixation-off epileptiform discharges",["Fixation-off sensitivity"],[11182]],[25646,"Bilateral polymicrogyria",[],[2126]],[25647,"Steroid-sensitive nephrotic syndrome",["SSNS"],[100]],[25648,"Steroid-sensitive nephrotic syndrome with infrequent relapses",[],[25647]],[25649,"Steroid-sensitive nephrotic syndrome with frequent relapses",[],[25647]],[25650,"Steroid-dependent nephrotic syndrome",["SDNS"],[100]],[25652,"Abnormal placental adhesion into the uterine wall",[],[100767]],[25653,"Placenta percreta",["Abnormal placental pentration beyond the uterine wall"],[25652]],[25654,"Placenta accreta",[],[25652]],[25655,"Placenta increta",[],[25652]],[25656,"Prenatal double bubble sign",[],[34207]],[25657,"Abnormal umbilical blood flow measurement",[],[10881,34059]],[25659,"Decreased circulating creatine kinase activity",["Decreased creatine kinase concentration","Decreased creatine kinase level","Decreased creatine kinase level in blood","Reduced creatine kinase concentration","Reduced creatine kinase level","Reduced creatine kinase level in blood"],[40081]],[25660,"Chiari type II malformation",["Arnold-Chiari type II malformation"],[2308]],[25661,"Chiari type III malformation",["Arnold-Chiari type III malformation"],[2308]],[25662,"Abnormal fetal skeletal morphology",[],[11842,34058]],[25663,"Reduced fetal femur/foot length ratio",[],[25662]],[25664,"Moderate to late preterm birth",[],[1622]],[25665,"Extremely preterm birth",[],[1622]],[25666,"Very preterm birth",[],[1622]],[25667,"Fetal neck anomaly",[],[25668,34058]],[25668,"Abnormal neck morphology",[],[464]],[25669,"Abnormal neck physiology",[],[464]],[25670,"Syntelencephaly",[],[1360]],[25671,"Fetal pericardial effusion",[],[10948]],[25672,"Fetal skin edema",[],[969,25723]],[25673,"Loculated ascites",["Septated ascites"],[1541]],[25674,"Meconium pseudocyst",[],[34207]],[25675,"Premature closure of the ductus arteriosus",["Fetal PAD narrowing-closure","Fetal PDA narrowing-closure","Fetal arterial duct narrowing-closure","Fetal ductus arteriosus narrowing-closure","Foetal PAD narrowing-closure","Foetal PDA narrowing-closure","Foetal arterial duct narrowing-closure","Foetal ductus arteriosus narrowing-closure","Idiopathic constriction of the fetal ductus arteriosus","Idiopathic constriction of the foetal ductus arteriosus","PCDA"],[34190]],[25676,"Fetal pleural effusion",[],[34243]],[25677,"Fetal chylothorax",[],[25676]],[25678,"Fetal hydrothorax",[],[25676]],[25679,"Diskitis",["Discitis"],[5108]],[25680,"Compound muscle action potential amplitude facilitation",["CMAP facilitation"],[30179]],[25681,"Distal clavicular thinning",[],[6645]],[25682,"Crouch gait",[],[1288]],[25683,"Abnormal amyloid beta 42 peptide CSF concentration",[],[25688]],[25684,"Decreased amyloid beta 42 peptide CSF concentration",[],[25683]],[25685,"Increased amyloid beta 42 peptide CSF concentration",[],[25683]],[25686,"Abnormal amyloid beta 40 peptide CSF concentration",["Abnormal Abeta 40 level","Abnormal beta amyloid 40 level"],[25688]],[25687,"Increased amyloid beta 40 peptide CSF concentration",[],[25686]],[25688,"Abnormal amyloid beta peptide CSF concentration",[],[25456]],[25689,"Extra-abdominal umbilical vein varix",[],[30656]],[25690,"Fetal intra-abdominal umbilical vein varix",["FIUVV","Fetal umbilical vein dilatation","Foetal umbilical vein dilatation"],[30656]],[25691,"Impaired fasting glucose",[],[3074]],[25692,"Atelencephaly",[],[7364]],[25693,"Pituitary macroadenoma",["Pituitary gland macroadenoma"],[2893]],[25694,"Pituitary microadenoma",[],[2893]],[25695,"Mucus plug",[],[2088]],[25696,"Airway casts",[],[25426]],[25697,"Fibrin casts",["Cellular airway casts","Diphtheroid membranes","Pseudomembranes","Type I airway casts"],[25696]],[25698,"Mucin casts",["Acellular airway casts","Type II airway casts"],[25696]],[25699,"Perisylvian FDG hypermetabolism",["Perisylvian hypermetabolism in FDG PET"],[12638]],[25700,"Anhydramnios",[],[1560]],[25701,"Distended jugular lymphatic sacs",[],[25667]],[25702,"Type 1 schizencephaly",["Trans-mantle schizencephaly"],[10636]],[25703,"Type 2 schizencephaly",[],[10636]],[25704,"Type 3 schizencephaly",[],[10636]],[25705,"Abnormal fetal nasal bone visualization",[],[25662]],[25706,"Absent fetal nasal bone",["Absence of fetal nasal bone","Absence of foetal nasal bone","Unossified nasal bone"],[25705]],[25707,"Hypoplastic fetal nasal bone",[],[25705]],[25708,"Early young adult onset",[],[11462]],[25709,"Intermediate young adult onset",[],[11462]],[25710,"Late young adult onset",[],[11462]],[25711,"Convergence-retraction nystagmus",["Convergence retraction nystagmus"],[639]],[25712,"Spontaneous chorioamniotic separation",["Amnion-chorion separation"],[11409]],[25713,"Neurite dystrophy",["Dystrophic neurite"],[12757]],[25714,"Cerebral cortical microinfarct",[],[2538]],[25715,"Abnormal umbilical artery doppler waveform during pregnancy",[],[25657]],[25716,"Fetal anemia",[],[34059]],[25717,"Skeletal muscle autophagosome accumulation",["Autophagic material in muscle biopsy"],[4303]],[25718,"Skeletal muscle hyperechogenicity",["Hyperechoic muscle","Muscle ultrasound hyperechogenicity"],[11805]],[25719,"Maternal vascular malperfusion",[],[100767]],[25720,"Limited horizontal extraocular movement",[],[7941]],[25721,"Limited vertical extraocular movement",[],[7941]],[25722,"Cerebral infarct",[],[2060]],[25723,"Abnormal fetal skin morphology",[],[11121,34058]],[25724,"Caseous vernix-like desquamation",["Greasy, thick vernix caseosa-like scale"],[25723]],[25725,"Type 1 congenital pulmonary airway malformation",[],[10959]],[25726,"Type 2 congenital pulmonary airway malformation",[],[10959]],[25727,"Type 3 congenital pulmonary airway malformation",[],[10959]],[25728,"Periventricular pseudocyst",[],[2518]],[25729,"Fetal vascular malperfusion",[],[100767]],[25730,"Foramen ovale aneurysm",["Fetal atrial septal dilatation","Foetal atrial septal dilatation","Redundant septum primum flap"],[10948]],[25731,"Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity",["Anti-GPIHBP1 antibody positivity"],[30057]],[25732,"Abnormal social development",[],[12433]],[25733,"Streak gonad",[],[133]],[25734,"Elevated urinary 5-hydroxyhexanoic acid level",[],[40156]],[25735,"Abnormal third cranial nerve morphology",[],[1291]],[25736,"Long-bone fracture",[],[11314,20110]],[25737,"Abnormal subthalamic nucleus morphology",[],[10662]],[25738,"Ring-enhancing cerebral lesion",[],[2060]],[25739,"Optic nerve mass",[],[587]],[25740,"Elevated brain succinate level by MRS",["Elevated brain succinate level by magnetic resonance spectroscopy"],[12705]],[25741,"Brainstem lucency",["Brainstem lucencies"],[2363]],[25742,"Elevated urine L-xylulose level",[],[31979]],[25743,"Elevated urine biliverdin level",[],[33354]],[25744,"Elevated urine dodecanedioic acid level",[],[1992]],[25745,"Abnormal urine amino acid level",[],[33354]],[25746,"Diminished urine glutamine level",[],[25745]],[25747,"Tongue spasticity",[],[182]],[25748,"Restricted tongue movement",[],[182]],[25749,"Asymmetric blood pressure between limbs",[],[30972]],[25750,"Asymmetric blood pressure between legs",[],[25749]],[25751,"Reduced anterior scleral thickness",[],[6000841]],[25752,"Reduced posterior scleral thickness",[],[6000841]],[25753,"Elevated urinary 2-aminoisobutyric acid",[],[33098]],[25754,"Reduced beta-hexosaminidase A activity",["Hexosaminidase A deficiency"],[12379]],[25755,"Abnormal nail shape",[],[1597]],[25756,"Abnormal nail attachment",[],[1597]],[25757,"Abnormal nail surface",[],[1597]],[25758,"Characteristic of mass",[],[12823]],[25759,"Mobile lump",["Mobile mass"],[25758]],[25760,"Immobile lump",["Immobile mass"],[25758]],[25761,"Painless mass",[],[25758]],[25762,"Anti-ganglionic acetylcholine receptor antibody positivity",[],[6001064]],[25763,"Positive urine anion gap",[],[32943]],[25764,"Nasoethmoidal encephalocele",[],[7330]],[25765,"Rubber-like lump",["Rubber-like mass"],[25758]],[25766,"Abnormal affect",[],[11446]],[25769,"Disordered formal thought process",["Disordered formal thought processes","Formal thought disorder","Disorganized speech or communication"],[25792]],[25770,"2-3 finger osseus syndactyly",[],[10492]],[25771,"Ruminations",[],[25785]],[25772,"Abnormal lexical patterns",[],[4000072]],[25773,"Abnormal semantics",[],[25772]],[25774,"Idiosyncratic use of words",["Ascribing novel meanings to words"],[25773]],[25775,"Tangential speech",["Circumstantiality","Tangentiality"],[25773]],[25776,"Thought insertion",[],[5200419]],[25777,"Thought broadcasting",[],[5200419]],[25778,"Thought echo",["Echo de pensee","Gedankenlautverden"],[5200419]],[25779,"Disorder of thought content",["Abnormal thought pattern"],[25792]],[25780,"Abnormal volitional state",["Abnormal energy","Abnormal motivation"],[25766]],[25781,"Abnormally rapid thought process",["Abnormally rapid thought processes","Rapid thought process"],[25769]],[25782,"Abnormal syntax",[],[25772]],[25783,"Diagnostic behavioral phenotype",[],[708]],[25784,"Word salad",["Random stream of words with no logic"],[2463]],[25785,"Abnormal preoccupation",[],[25779]],[25786,"Intraosseous lipoma",["Bone lipoma","Bony lipoma","Intra-osseous lipoma","Lipoma of bone"],[12032]],[25787,"Paraphilia",["Paraphilias"],[8768]],[25788,"Radiographic modifier",["Radiographic quality"],[12823]],[25789,"Radiolucent",["Radiolucent appearance","Radiolucent character"],[25788]],[25790,"Radiodense",[],[25788]],[25791,"Delusion of guilt",[],[746]],[25792,"Abnormal cognitive process",[],[11446]],[25793,"Abnormal change in sexual drive",[],[8768,25780]],[25794,"Reduced MHC I cell surface expression",["Reduced cell surface expression of class I HLA antigens"],[6001190]],[25795,"Positive urine infectious agent test",[],[430030]],[25796,"Positive urine Legionella pneumophila antigen test",[],[25795]],[25797,"Unilateral sensorineural hearing impairment",[],[407]],[25798,"Abnormal wrist morphology",[],[3019]],[25799,"Abnormal wrist physiology",[],[3019]],[25800,"Wrist instability",[],[25799]],[25801,"Nail elevation",[],[9723]],[25802,"Talipes varus",["Pes adductus","Pes varus"],[34673,5210430]],[25803,"Mucocutaneous lesion painful",["Skin or mucosal lesions painful"],[25280]],[25804,"Painful lymphadenopathy",["Lymph node pain"],[25280]],[25805,"Absent circulating T cells",[],[11839]],[25807,"Decreased natural killer cell degranulation",[],[12177]],[25808,"Decreased natural killer cell-induced killing of target cells",[],[12177]],[25809,"Generalized scaling",["Diffuse desquamation","Diffuse scaling"],[40189]],[25810,"Ichthyosis linearis circumflexa",["Serpiginous scaling","Double-edged scaling"],[8064]],[25811,"Trichorrhexis invaginata",["Bamboo hair","Helical hair"],[3328]],[25812,"Seborrheic scales on scalp",["Seborrhoeic scales on scalp"],[1051,40189]],[25813,"Eyebrow scaling skin",["Scales on eyebrows"],[40189]],[25814,"Patchy stratum granulosum of epidermis",["Patchy granular layer of the skin"],[33806]],[25815,"Absent stratum granulosum of epidermis",["Absent granular layer of skin"],[33806]],[25816,"Hypogranulosis",["Diminished granular layer","Reduced granular layer"],[33806]],[25817,"Psoriasiform acanthosis",["Psoriasiform epidermal hyperplasia","Psoriasiform epidermis","Psoriasiform hyperplasia"],[25092]],[25818,"Intraepidermal microabscess formation",[],[11124]],[25819,"Palmoplantar peeling",["Palmoplantar desquamation","Palmoplantar keratolysis","Dyshidrosis lamellosa sicca","Exfoliative keratolysis","Focal palmoplantar peeling"],[100872]],[25820,"Offspring of consanguineous relationship",["Consanguineous"],[32316]],[25821,"Lower eyelid erythema",[],[40323]],[25822,"Upper eyelid erythema",[],[40323]],[25823,"Positive provocative functional shoulder test",[],[33129]],[25824,"Decreased neutrophil phagocytosis",[],[11990]],[25825,"Decreased neutrophil adhesion",["Impaired leukocyte adhesion"],[11990]],[25826,"Severely decreased neutrophil count",[],[1875]],[25827,"Abnormal Th1 T cell proportion",[],[11840]],[25828,"Increased Th1 T cell proportion",[],[25827]],[25829,"Decreased Th1 T cell proportion",[],[25827]],[25830,"Abnormal Th17 T cell proportion",[],[11840]],[25831,"Increased Th17 T cell proportion",[],[25830]],[25832,"Decreased Th17 T cell proportion",[],[25830]],[25833,"Decreased PMA/ionomycin-induced T-cell proliferation",["Decreased proliferation in response to PMA/ionomycin"],[31381]],[25834,"Impaired phytohemagglutinin-induced T lymphocyte transformation",["Decreased PHA-induced T-cell proliferation","Decreased proliferation in response to PHA","Impaired T lymphocyte transformation with phytohemagglutinin","Impaired lymphocyte transformation with phytohemagglutinin"],[31381]],[25835,"Decreased CD8+ T cell degranulation",[],[11840]],[25836,"Increased total CD8+ T cell proportion",["Elevated CD8+ T cell percentage","Increased CD8 percentage"],[5210424]],[25837,"Abnormal RTE CD4+ T cell proportion",["Abnormal proportion of RTE CD4+ T cells"],[31392]],[25838,"Increased RTE CD4+ T cell proportion",["Increased proportion of RTE CD4+ T cells"],[25837]],[25839,"Decreased RTE CD4+ T cell proportion",["Decreased proportion of RTE CD4+ T cells"],[25837]],[25840,"Abnormal HLA-DR+ CD4+ T cell proportion",["Abnormal HLA DR+ CD4+ T cell proportion","Abnormal proportion of HLA DR+ CD4+ T cells"],[31392,5200023]],[25841,"Decreased HLA-DR+ CD4+ T cell proportion",["Decreased HLA DR+ CD4+ T cell proportion"],[25840,5200034]],[25842,"Abnormal HLA-DR+ CD8+ T cell proportion",["Abnormal proportion of HLA DR+ CD8+ T cells"],[20115,5200023]],[25843,"Increased HLA-DR+ CD8+ T cell proportion",[],[25842,5200033]],[25844,"Decreased HLA-DR+ CD8+ T cell proportion",[],[25842,5200034]],[25845,"Abnormal TCR repertoire",[],[2843]],[25846,"Decreased natural killer cell perforin expression",["Decreased NK cell perforin expression"],[12177]],[25847,"Fish allergy",[],[410333]],[25848,"Shellfish allergy",[],[410333]],[25849,"Localized along nerve distribution",[],[12838]],[25850,"Abnormal synovial cavity morphology",["Abnormal joint cavity morphology"],[1367]],[30000,"EMG: repetitive nerve stimulation abnormality",[],[3457]],[30001,"Lagophthalmos",["Eyelids stay open","Inability to close the eyelids"],[492]],[30002,"Nocturnal lagophthalmos",["Eyelids stay open at night","Inability to close the eyelids at night"],[30001]],[30003,"Paralytic lagophthalmos",[],[30001]],[30004,"Cicatricial lagophthalmos",["Eyelids stay open due to scarring","Inability to close the eyelids due to scarring"],[30001]],[30005,"Capillary leak",["Increased capillary permeability","Systemic capillary leak syndrome"],[25018]],[30006,"Single fiber EMG abnormality",["Single fibre EMG abnormality"],[3457]],[30007,"EMG: positive sharp waves",[],[3482]],[30008,"Cervical agenesis",["Absent cervix","Aplasia of the cervix","Cervical aplasia"],[430114]],[30009,"Cervical insufficiency",["Incompetent cervix"],[12888]],[30010,"Hydrometrocolpos",[],[142]],[30011,"Imperforate hymen",[],[142]],[30012,"Abnormal female reproductive system physiology",["Abnormal female genital system physiology"],[80]],[30014,"Female sexual dysfunction",[],[30012]],[30015,"Female anorgasmia",["Female orgasmic disorder"],[30014,46502]],[30016,"Dyspareunia",[],[80]],[30017,"Vaginismus",["Myalgia of pelvic floor","Pelvic floor myalgia"],[30014]],[30018,"Decreased female libido",["Decreased female sex drive"],[30014,46504]],[30019,"Increased female libido",["Increased female sex drive"],[30014,46503]],[30021,"Auricular tag",[],[377]],[30022,"Question mark ear",["Constricted ear","Cosman ear","Question mark ears"],[377]],[30023,"Quelprud nodule",[],[377]],[30024,"Pretragal ectopia",["Extra cartilage in front of the ear","Pretragal Duplication"],[383]],[30025,"Auricular pit",[],[377]],[30026,"Squared superior portion of helix",[],[11039]],[30027,"Abnormal nasal cartilage morphology",["Abnormality of cartilage of nose","Abnormality of the nasal cartilage","Anomaly of cartilage of nose","Anomaly of nasal cartilage","Deformity of cartilage of nose","Deformity of nasal cartilage","Malformation of cartilage of nose","Malformation of nasal cartilage"],[10938]],[30028,"Absent nasal cartilage",["Absent cartilage of nose","Agenesis of cartilage of nose","Agenesis of nasal cartilage","Failure of development of cartilage of nose","Failure of development of nasal cartilage","Missing cartilage of nose","Missing nasal cartilage"],[30027]],[30029,"Splayed fingers",["Spreading of the fingers"],[1167]],[30030,"Absent ray",[],[2813]],[30031,"Small toe",[],[1991]],[30032,"Partial absence of foot",[],[6494]],[30033,"Small finger",[],[6265]],[30034,"Glomerular basement membrane lamellation",["Lamellated/basket-woven thickened glomerular basement membranes","Lamellation of the glomerular basement membrane"],[33282]],[30035,"Struvite nephrolithiasis",["Struvite kidney stones"],[787]],[30036,"Isothenuria",[],[12211]],[30037,"Bifid ureter",[],[73]],[30038,"Enchondroma",[],[10622]],[30039,"Fused thoracic vertebrae",[],[2948]],[30040,"Fused lumbar vertebrae",[],[2948]],[30041,"Schmorl's node",["Schmorl's nodes"],[3468]],[30042,"Incomplete ossification of pubis",["Incomplete maturation of the pubic bone"],[9105]],[30043,"Hip subluxation",["Partial hip dislocation","Subluxation involving the hip joint"],[1384]],[30044,"Flexion contracture of digit",[],[1371]],[30045,"Serpentine fibula",["S-shaped calf bone"],[2991]],[30046,"Hypoglycosylation of alpha-dystroglycan",[],[30112]],[30047,"Abnormal lateral ventricle morphology",["Abnormality of lateral ventricle"],[2118]],[30048,"Colpocephaly",[],[30047]],[30049,"Brain abscess",[],[11450,25615]],[30051,"Tip-toe gait",["Tiptoe gait","Toe walking","Walking on tiptoes"],[1288]],[30052,"Inguinal freckling",["Freckles in groin region"],[1480]],[30053,"Stiff skin",["Indurated skin","Skin induration"],[11121]],[30054,"Perifollicular fibrosis",[],[31285]],[30055,"Hyperconvex toenail",[],[1795]],[30056,"Uncombable hair",[],[10719]],[30057,"Autoimmune antibody positivity",[],[2960]],[30058,"Sickled erythrocytes",[],[4447]],[30059,"Mitochondrial depletion",[],[3287]],[30060,"Nervous tissue neoplasm",[],[11792]],[30061,"Neuroectodermal neoplasm",[],[30060]],[30062,"Craniopharyngioma",[],[30061]],[30063,"Neuroepithelial neoplasm",[],[30061]],[30064,"Neurocytoma",[],[30063]],[30065,"Primitive neuroectodermal tumor",["Primitive neuroectodermal tumour"],[30063]],[30066,"Ependymoblastoma",[],[30070]],[30067,"Peripheral primitive neuroectodermal neoplasm",[],[30065]],[30068,"Olfactory esthesioneuroblastoma",[],[3006]],[30069,"Primary central nervous system lymphoma",["Primary CNS lymphoma"],[12539]],[30070,"Central primitive neuroectodermal tumor",["Central primitive neuroectodermal tumour"],[30065]],[30071,"Medulloepithelioma",[],[30070]],[30072,"Paranasal sinus neoplasm",["Neoplasm of the paranasal sinuses","Tumor of the paranasal sinuses","Tumour of the paranasal sinuses"],[245,12720]],[30074,"Chemodectoma",["Chemodectomas"],[2668]],[30075,"Ductal carcinoma in situ",[],[100013]],[30076,"Lobular carcinoma in situ",[],[100013]],[30077,"Bronchial neoplasm",[],[25426,100552]],[30078,"Lung adenocarcinoma",[],[30358]],[30079,"Cervix cancer",[],[32241]],[30080,"Burkitt lymphoma",[],[12539]],[30081,"Punctate periventricular T2 hyperintense foci",[],[30891]],[30082,"Abnormal drinking behavior",["Abnormal drinking behaviour"],[40202]],[30083,"Salt craving",[],[100738]],[30084,"Clinodactyly",["Curvature of digit","Permanent curving of the finger"],[11297]],[30085,"Abnormal CSF lactate concentration",["Abnormal CSF lactate level"],[25454]],[30086,"Reduced CSF lactate",["Hypolactatorachia"],[30085]],[30087,"Abnormal circulating testosterone concentration",["Abnormal testosterone level","Abnormal serum testosterone level"],[30347]],[30088,"Increased serum testosterone level",["Increased testosterone","High serum testosterone level","High serum testosterone levels","Increased serum testosterone levels"],[30087,30348]],[30089,"Abnormal muscle fiber protein expression",["Abnormal muscle fibre protein expression"],[4303]],[30090,"Abnormal muscle fiber merosin expression",["Abnormal muscle fibre merosin expression"],[30089]],[30091,"Absent muscle fiber merosin",["Absent merosin staining in muscle biopsy","Absent muscle fiber laminin alpha 2","Absent muscle fibre laminin alpha 2","Absent muscle fibre merosin"],[30090]],[30092,"Reduced muscle fiber merosin",["Reduced muscle fibre merosin"],[30090]],[30093,"Abnormal muscle fiber laminin beta 1",["Abnormal muscle fibre laminin beta 1"],[30089]],[30094,"Reduced muscle fiber laminin beta 1",["Reduced muscle fibre laminin beta 1"],[30093]],[30095,"Reduced muscle collagen VI",["Reduced collagen 6 in muscle","Reduced collagen VI immunolabeling in muscle biopsy"],[30089]],[30096,"Abnormal muscle fiber dystrophin expression",["Abnormal muscle fibre dystrophin expression"],[30089]],[30097,"Absent muscle dystrophin expression",[],[30096]],[30098,"Reduced muscle dystrophin expression",["Reduced dystrophin staining in muscle"],[30096]],[30099,"Reduced muscle fiber alpha dystroglycan",["Reduced muscle fibre alpha dystroglycan"],[30112]],[30100,"Abnormal muscle fiber alpha sarcoglycan",["Abnormal muscle fibre alpha sarcoglycan"],[30089]],[30101,"Absent muscle fiber alpha sarcoglycan",["Absent muscle fibre alpha sarcoglycan"],[30100]],[30102,"Reduced muscle fiber alpha sarcoglycan",["Reduced muscle fibre alpha sarcoglycan"],[30100]],[30103,"Abnormal muscle fiber beta sarcoglycan",["Abnormal muscle fibre beta sarcoglycan"],[30089]],[30104,"Abnormal muscle fiber gamma sarcoglycan",["Abnormal muscle fibre gamma sarcoglycan"],[30089]],[30105,"Abnormal muscle fiber delta sarcoglycan",["Abnormal muscle fibre delta sarcoglycan"],[30089]],[30106,"Absent muscle fiber beta sarcoglycan",["Absent muscle fibre beta sarcoglycan"],[30103]],[30107,"Reduced muscle fiber beta sarcoglycan",["Reduced muscle fibre beta sarcoglycan"],[30103]],[30108,"Reduced muscle fiber gamma sarcoglycan",["Reduced muscle fibre gamma sarcoglycan"],[30104]],[30109,"Absent muscle fiber gamma sarcoglycan",["Absent muscle fibre gamma sarcoglycan"],[30104]],[30110,"Absent muscle fiber delta sarcoglycan",["Absent muscle fibre delta sarcoglycan"],[30105]],[30111,"Reduced muscle fiber delta sarcoglycan",["Reduced muscle fibre delta sarcoglycan"],[30105]],[30112,"Abnormal muscle fiber alpha dystroglycan",["Abnormal muscle fibre alpha dystroglycan"],[30089]],[30113,"Abnormal muscle fiber dysferlin",["Abnormal muscle fibre dysferlin"],[30089]],[30114,"Absent muscle fiber dysferlin",["Absent muscle fibre dysferlin"],[30113]],[30115,"Reduced muscle fiber dysferlin",["Reduced muscle fibre dysferlin"],[30113]],[30116,"Abnormal muscle fiber emerin",["Abnormal muscle fibre emerin"],[30089]],[30117,"Absent muscle fiber emerin",["Absent muscle fibre emerin"],[30116]],[30118,"Reduced muscle fiber emerin",["Reduced muscle fibre emerin"],[30116]],[30119,"Abnormal muscle fiber calpain-3",["Abnormal muscle fibre calpain-3"],[30089]],[30120,"Absent muscle fiber calpain-3",["Absent muscle fibre calpain-3"],[30119]],[30121,"Reduced muscle fiber calpain-3",["Reduced muscle fibre calpain-3"],[30119]],[30122,"Reduced muscle fiber perlecan",["Reduced muscle fibre perlecan"],[30089]],[30123,"Abnormal muscle fiber lamin A/C",["Abnormal muscle fibre lamin A/C"],[30089]],[30124,"Reduced muscle fiber lamin A/C",["Reduced muscle fibre lamin A/C"],[30123]],[30125,"Sacralization of the fifth lumbar vertebra",["L5 sacralization"],[2948]],[30126,"Abnormal endometrium morphology",["Abnormality of the endometrium"],[31105]],[30127,"Endometriosis",[],[30012,30126]],[30129,"Impaired ristocetin cofactor assay activity",[],[12146]],[30130,"Impaired von Willebrand factor collagen binding activity",[],[12146]],[30131,"Abnormal von Willebrand factor multimer distribution",[],[12146]],[30132,"Absence of large von Willebrand factor multimers",[],[30131]],[30133,"Abnormal presence of ultra-large von Willebrand factor multimers",[],[30131]],[30134,"Total absence von Willebrand factor multimers",[],[30131]],[30135,"Absence of intermediate von Willebrand factor multimers",[],[30131]],[30136,"Enhanced ristocetin cofactor assay activity",[],[12146]],[30137,"Prolonged bleeding following circumcision",[],[11890]],[30138,"Excessive bleeding from superficial cuts",[],[1892]],[30139,"Excessive bleeding after a venipuncture",[],[1892]],[30140,"Oral cavity bleeding",["Bleeding from mouth","Oral bleeding","Oral cavity haemorrhage","Oral cavity hemorrhage","Oral haemorrhage","Oral hemorrhage"],[1892,31815]],[30141,"Abnormality of the posterior hairline",["Abnormality of hairline at back of head"],[9553]],[30142,"Abnormal bowel sounds",[],[11458]],[30143,"Hyperactive bowel sounds",["Borborygmi","Increased bowel sounds"],[30142]],[30144,"Hypoactive bowel sounds",["Decreased bowel sounds"],[30142]],[30145,"Lack of bowel sounds",[],[30142]],[30146,"Abnormal liver parenchyma morphology",[],[410042]],[30147,"Truncal titubation",[],[30187]],[30148,"Heart murmur",["Cardiac murmur","Cardiac murmurs","Heart murmurs"],[31657]],[30149,"Cardiogenic shock",["Cardiovascular shock"],[31273]],[30150,"Plasmacytosis",[],[4332]],[30151,"Cholangitis",["Bile duct inflammation"],[12440,12649]],[30153,"Cholangiocarcinoma",["Bile duct cancer"],[100574]],[30154,"Gallbladder perforation",["Gall bladder perforation"],[12437]],[30155,"Scrotal pain",[],[45,12531]],[30156,"Bence Jones Proteinuria",[],[20129]],[30157,"Flank pain",["Kidney pain"],[12531]],[30158,"Cervical ectropion",["Cervical ectopy","Cervical erosion"],[12888]],[30159,"Cervical polyp",["Cervical tumor","Cervical tumour"],[12888]],[30160,"Cervicitis",["Uterine cervicitis","Uterine cervix inflammation"],[12888]],[30161,"Vaginal pruritus",[],[142,989]],[30162,"Glomerulomegaly",["Glomeruli enlarged"],[95]],[30163,"Abnormal vascular physiology",[],[2597,11025]],[30164,"Jaw claudication",["Jaw pain while chewing"],[25323]],[30165,"Temporal artery tortuosity",[],[5116,430104]],[30166,"Night sweats",["Nocturnal hyperhidrosis"],[25142]],[30167,"Antimitochondrial antibody positivity",["Serum antimitochrondrial antibodies"],[30057]],[30168,"Dilated superficial abdominal veins",["Dilatation of the superficial abdominal veins"],[1015]],[30169,"Gastric varix",["Gastric varices"],[2577]],[30170,"Cystic artery pseudoaneurysm",[],[12437]],[30171,"Perirenal hematoma",[],[12210]],[30172,"Peripheral amyelination",[],[3130]],[30173,"Peripheral hypermyelination",["Increased peripheral myelination"],[3130]],[30174,"Increased peripheral myelin thickness",[],[30173]],[30175,"Myelin tomacula",["Tomacula"],[30173]],[30176,"Asymmetric peripheral demyelination",[],[11096]],[30177,"Abnormality of peripheral nervous system electrophysiology",["Abnormal nerve conduction study"],[1311,32120]],[30178,"Abnormality of central nervous system electrophysiology",["Abnormality of CNS electrophysiology"],[1311]],[30179,"Abnormal peripheral action potential amplitude",[],[3134]],[30180,"Oppenheim reflex",["Oppenheim sign"],[7256]],[30181,"Gordon reflex",["Gordon sign"],[7256]],[30182,"Tetraplegia/tetraparesis",[],[10549]],[30183,"Impaired visually enhanced vestibulo-ocular reflex",["VVOR impairment","Visually enhanced vestibulo-ocular reflex impairment"],[7670]],[30185,"Isometric tremor",["Dystonia tremor"],[2345]],[30186,"Kinetic tremor",["Essential tremor"],[2345]],[30187,"Titubation",[],[2345]],[30188,"Tremor by anatomical site",["Tremor of a body part"],[1337]],[30190,"Oral motor hypotonia",[],[1252]],[30191,"Abnormal peripheral nervous system synaptic transmission",["Abnormal PNS synaptic transmission"],[12535]],[30192,"Fatigable weakness of bulbar muscles",[],[3473]],[30193,"Fatigable weakness of chewing muscles",[],[30192]],[30194,"Fatigable weakness of speech muscles",[],[30192]],[30195,"Fatigable weakness of swallowing muscles",[],[30192]],[30196,"Fatigable weakness of respiratory muscles",[],[3473]],[30197,"Fatigable weakness of skeletal muscles",[],[3473]],[30198,"Fatigable weakness of distal limb muscles",[],[30197]],[30199,"Fatigable weakness of neck muscles",[],[30197]],[30200,"Fatiguable weakness of proximal limb muscles",[],[30197]],[30201,"Response to drugs acting on neuromuscular transmission",[],[30191]],[30202,"Favorable response of weakness to acetylcholine esterase inhibitors",["Favourable response of weakness to acetylcholine esterase inhibitors"],[30201]],[30203,"Unfavorable response of muscle weakness to acetylcholine esterase inhibitors",["Unfavourable response of muscle weakness to acetylcholine esterase inhibitors"],[30201]],[30205,"Increased jitter at single fiber EMG",["Increased jitter at single fibre EMG","Increased jitter at single fibre electromyography"],[30006]],[30206,"EMG: incremental response of compound muscle action potential to repetitive nerve stimulation",[],[100285]],[30207,"Paradoxical respiration",["Paradoxical breathing"],[2793]],[30208,"Anti-neuromuscular Junction acetylcholine receptor antibody positivity",["Acetylcholine receptor antibody positivity","Anti-AChR antibody positivity"],[6001064]],[30209,"Calcium channel antibody positivity",["Ca channel antibody positivity","Ca2+ channel antibody positivity"],[30057]],[30210,"Anti-muscle-specific tyrosine kinase antibody",["Anti-MUSK antibodies","Muscle specific kinase antibody positivity"],[30057]],[30211,"Slow pupillary light response",["Sluggish pupillary reaction","Sluggish pupillary reactions to light"],[7695]],[30212,"Collectionism",["Collecting","Compulsive hoarding","Hoarding"],[722]],[30213,"Emotional dearth",["Blunted affect","Diminished emotional response","Emotional poverty","Flat Affect","Restricted Affect","Unable to feel emotion","Emotional blunting","Emotional numbness","Emotionally barren","Emotional Detachment","Restricted affect"],[100851]],[30215,"Inappropriate crying",["Cry frequently for no reason","Cry frequently without apparent cause","Cry frequently without cause","Cry frequently without reason","Frequently cries for no reason","Frequently cries without apparent cause","Frequently cries without cause","Frequently cries without reason"],[5200261]],[30216,"Inertia",[],[745]],[30217,"Limb apraxia",[],[2186]],[30218,"Punding",[],[733]],[30219,"Semantic dementia",["Trouble remembering words"],[2145]],[30221,"Sweet craving",[],[100738]],[30222,"Visual agnosia",[],[10524]],[30223,"Perseverative thought",["Perseveration","Perseverative behavior","Perseverative behaviour"],[25769]],[30224,"Abnormal muscle fiber desmin",["Abnormal muscle fibre desmin"],[30089]],[30225,"Accumulation of muscle fiber desmin",["Accumulation of muscle fibre desmin","Muscle fiber desmin-reactive inclusion bodies","Muscle fibre desmin-reactive inclusion bodies"],[30224]],[30226,"Abnormal muscle fiber myotilin",["Abnormal muscle fibre myotilin"],[30089]],[30227,"Accumulation of muscle fiber myotilin",["Accumulation of muscle fibre myotilin"],[30226]],[30228,"Abnormal muscle fiber valosin-containing protein",["Abnormal muscle fibre valosin-containing protein"],[30089]],[30229,"Accumulation of muscle fiber valosin-containing protein",["Accumulation of muscle fibre valosin-containing protein"],[30228]],[30230,"Central core regions in muscle fibers",["Central core regions in muscle fibres"],[4303]],[30231,"Glycogen accumulation in muscle fiber lysosomes",["Glycogen accumulation in muscle fibre lysosomes"],[9051]],[30232,"Increased sarcoplasmic glycogen",[],[9051]],[30233,"Bethlem sign",["Bethlem phenomenon"],[9473]],[30234,"Highly elevated creatine kinase",["Highly elevated CPK","Highly elevated creatine phosphokinase","Highly elevated serum CK","Highly elevated serum CPK","Highly elevated serum phosph-CK"],[3236]],[30235,"Extremely elevated creatine kinase",["Extremely elevated CPK","Extremely elevated creatine phosphokinase","Extremely elevated phospho-CK serum level","Extremely elevated serum CK level","Extremely high CPK level"],[3236]],[30236,"Abnormality of muscle size",[],[11805]],[30237,"Hand muscle weakness",[],[1421]],[30239,"Hypoplasia of the upper arm musculature",["Underdeveloped upper arm muscles"],[9016]],[30241,"Hypoplasia of deltoid muscle",["Deltoid muscle hypoplasia"],[8952]],[30242,"Portal vein thrombosis",["Blood clot in portal vein"],[30247,31941]],[30243,"Hepatic vein thrombosis",["Blood clot in liver vein","Hepatic venous thrombosis"],[30247]],[30244,"Maternal fever in pregnancy",["Maternal fever during pregnancy"],[2686]],[30245,"Intrapartum fever",["Maternal fever during labor","Maternal fever during labour"],[30244]],[30246,"Maternal first trimester fever",[],[30244]],[30247,"Splanchnic vein thrombosis",["Blood clot in splanchnic vein"],[4936]],[30248,"Mesenteric venous thrombosis",["Blood clot in mesentertic vein"],[30247]],[30249,"Enanthema",[],[11830]],[30250,"Pulmonary granulomatosis",[],[6530]],[30252,"Absent circulating B cells",["Absence of mature B cells"],[10975]],[30254,"Nail bed hemorrhage",["Nail bed haemorrhage"],[1597]],[30255,"Large intestinal polyposis",[],[200008]],[30256,"Small intestinal polyposis",[],[200008]],[30257,"Freckled genitalia",["Genitalia, ephelides"],[12293]],[30258,"Hyperpigmented genitalia",["Increased genital pigmentation","Penile melanosis"],[12293]],[30259,"Hypopigmented genitalia",["Decreased genital pigmentation"],[12293]],[30260,"Microphallus",[],[8736]],[30261,"Absent penis",["Aphallia","Aplasia of the penis","Penis aplasia"],[36]],[30262,"Narrow penis",[],[36]],[30263,"Torsion of the penis",[],[36]],[30264,"Webbed penis",[],[36]],[30265,"Wide penis",[],[36]],[30267,"Calcification of the interosseus membrane of the forearm",["Interosseous membrane calcification of forearm"],[2973]],[30268,"Hyperplastic callus formation",[],[11842]],[30269,"Increased circulating insulin-like growth factor 1 concentration",["Elevated serum IGF1","Increased serum IGF1","Increased serum insulin-like growth factor 1"],[30352]],[30270,"Elevated red cell adenosine deaminase activity",[],[4000209]],[30271,"Reduced erythrocyte 2,3-diphosphoglycerate concentration",[],[34737]],[30272,"Abnormal erythrocyte enzyme concentration or activity",["Abnormal erythrocyte enzyme level"],[1877,34684]],[30273,"Reduced red cell adenosine deaminase level",[],[4000209]],[30274,"Accessory scrotum",["Extra scrotum"],[45]],[30275,"Ectopic scrotum",["Abnormal scrotum position"],[45]],[30277,"Abnormal vertebral pedicle morphology",[],[8438]],[30278,"Hypoplastic vertebral pedicle",[],[30277]],[30279,"Hypoplastic L5 vertebral pedicle",[],[30278]],[30280,"Rib gap",[],[772]],[30281,"Cervical C3/C4 vertebral fusion",[],[2949]],[30282,"Posterior rib gap",["Dorsal rib defect"],[30280]],[30283,"Partial absence of the septum pellucidum",[],[7375]],[30284,"Triangular tongue",["Triangle shaped tongue"],[158]],[30285,"Splayed superior cerebellar peduncle",[],[11932]],[30286,"Atrophic superior cerebellar peduncle",[],[11932]],[30289,"Flattened femoral epiphysis",["Flattended end part of thigh bone"],[3071]],[30290,"Unossified sacrum",["Absence of sacrum ossification"],[25370]],[30291,"Lower-limb metaphyseal irregularity",[],[3025]],[30292,"Tibial metaphyseal irregularity",[],[30291]],[30293,"Fibular metaphyseal irregularity",["Irregularity of wide portion of calf bone"],[30291]],[30294,"Metaphyseal chondromatosis of tibia",[],[5868]],[30295,"Metaphyseal chondromatosis of femur",[],[5868]],[30296,"Metaphyseal chondromatosis of radius",[],[5868]],[30297,"Metaphyseal chondromatosis of ulna",[],[5868]],[30298,"Metaphyseal chondromatosis of humerus",[],[5868]],[30299,"Abnormal distal femoral metaphysis morphology",["Abnormality of wide portion of outermost thighbone","Distal femoral metaphyseal abnormality"],[6489]],[30300,"10 pairs of ribs",[],[921]],[30301,"Abnormality of the anterior commissure",[],[2500]],[30302,"Agenesis of the anterior commissure",[],[30301]],[30303,"Hypoplastic anterior commissure",[],[30301]],[30304,"Abnormal number of vertebrae",[],[3468]],[30305,"Decreased number of vertebrae",[],[30304]],[30306,"11 thoracic vertebrae",[],[30305]],[30307,"Flared lower limb metaphysis",["Flared metaphysis of lower limb bone"],[3015]],[30308,"Flared distal tibial metaphysis",["Flared outermost metaphysis of shankbone","Flared outermost metaphysis of shinbone"],[30307]],[30309,"Flared distal fibular metaphysis",["Flared outermost wide portion of of calf bone"],[30307]],[30310,"Upper extremity joint dislocation",["Dislocated arm joints"],[1373]],[30311,"Lower extremity joint dislocation",["Dislocated leg joints"],[1373]],[30312,"Obliteration of the calvarial diploe",["Obliteration of cranial cancellous bone"],[2683]],[30313,"Abnormal periosteum morphology",[],[11842]],[30314,"Periostosis",[],[30313]],[30318,"Angular cheilitis",["Angular cheilosis","Angular stomatitis","Commissural cheilitis","Inflammation of corners of the mouth","Inflammation of oral commisures","Red and sore corners of the mouth"],[100825]],[30319,"Weakness of facial musculature",["Decreased facial muscle strength","Decreased strength of facial muscles","Face weakness","Facial muscle weakness","Facial weakness","Myasthenia of facial muscles","Reduced facial muscle strength","Weakness of face"],[301]],[30320,"Increased intervertebral space",[],[5108]],[30321,"Abnormal vertebral artery morphology",["Abnormality of the vertebral artery"],[11004]],[30322,"Vertebral artery hypoplasia",[],[30321]],[30323,"Unilateral vertebral artery hypoplasia",[],[30322]],[30324,"Bilateral vertebral artery hypoplasia",[],[30322]],[30325,"Cervicomedullary schisis",[],[2143]],[30326,"Abnormal macrophage count",[],[4311]],[30327,"Abnormal osteoclast count",[],[3330]],[30328,"Decreased osteoclast count",[],[30327]],[30329,"Retinal thinning on OCT",["Retinal thinning"],[20040]],[30330,"Multinucleated giant chondrocytes in epiphyseal cartilage",[],[5930,32929]],[30331,"Impaired stimulus-induced skin wrinkling",[],[11122]],[30338,"Abnormal circulating gonadotropin concentration",["Abnormal circulating gonadotropin level"],[3117]],[30339,"Decreased circulating gonadotropin concentration",["Decreased circulating gonadotropin level"],[30338]],[30341,"Decreased circulating follicle stimulating hormone concentration",["Decreased circulating follicle stimulating hormone level"],[30339,30346]],[30344,"Decreased circulating luteinizing hormone level",["Decreased circulating luteinising hormone level"],[30339,30345]],[30345,"Abnormal circulating luteinizing hormone concentration",["Abnormal circulating luteinizing hormone level","Abnormal luteinizing hormone level","Increased circulating lutropin"],[30338]],[30346,"Abnormal circulating follicle-stimulating hormone concentration",["Abnormal circulating follicle-stimulating hormone level"],[30338]],[30347,"Abnormal circulating androgen level",[],[33799]],[30348,"Increased circulating androgen concentration",["Hyperandrogenemia","Increased circulating androgen level"],[30347]],[30349,"Decreased circulating androgen concentration",["Decreased circulating androgen level"],[30347]],[30350,"Erythematous papule",["Red-blue papule"],[200034]],[30351,"Urticarial plaque",[],[200035]],[30352,"Abnormal circulating insulin-like growth factor 1 concentration",["Abnormal serum insulin-like growth factor 1 level"],[3117]],[30353,"Decreased circulating insulin-like growth factor 1 concentration",[],[30352]],[30355,"Abnormal circulating interferon-gamma concentration",["Abnormal serum interferon-gamma level"],[11116]],[30356,"Increased circulating interferon-gamma concentration",["Increased serum interferon-gamma level"],[30355]],[30357,"Small cell lung carcinoma",["Oat cell carcinoma of lung","Oat cell lung cancer","Small cell lung cancer"],[100526]],[30358,"Non-small cell lung carcinoma",["Non-small cell lung cancer"],[100526]],[30359,"Squamous cell lung carcinoma",[],[30358]],[30360,"Large cell lung carcinoma",[],[30358]],[30361,"Abnormal circulating icosanoid concentration",["Abnormal icosanoid level","Abnormality of icosanoid metabolism"],[11022]],[30362,"Reduced muscle carnitine level",[],[34370]],[30363,"Primary Caesarian section",[],[11410]],[30364,"Secondary Caesarian section",[],[11410]],[30365,"Vaginal birth after Caesarean",[],[1787]],[30366,"Delivery by Odon device",[],[1787]],[30367,"Finger hyperphalangy",[],[5918]],[30368,"Hyperphalangy of the 2nd finger",["Hyperphalangy of index finger"],[30367]],[30369,"Induced vaginal delivery",[],[1787]],[30370,"Abnormal naive B cell proportion",["Abnormal proportion of naive B cells"],[25539]],[30371,"Increased naive B cell proportion",["Increased proportion of naive B cells"],[30370]],[30372,"Decreased naive B cell proportion",["Decreased proportion of naive B cells"],[30370]],[30373,"Abnormal memory B cell proportion",["Abnormal proportion of memory B cells"],[25539]],[30374,"Decreased memory B cell proportion",[],[30373]],[30375,"Increased memory B cell proportion",[],[30373]],[30376,"Abnormal immature B cell proportion",["Abnormal proportion of CD19+/CD21low B cells","Abnormal proportion of immature B cells"],[25539]],[30377,"Increased immature B cell proportion",["Increased proportion of CD19+/CD21low B cells","Increased proportion of immature B cells"],[30376]],[30378,"Decreased immature B cell proportion",["Decreased proportion of CD19+/CD21low B cells","Decreased proportion of immature B cells"],[30376]],[30379,"Abnormal transitional B cell proportion",["Abnormal proportion of CD19+CD38+IgM+ cells","Abnormal proportion of transitional B cells"],[25539]],[30380,"Decreased transitional B cell proportion",["Decreased proportion of CD19+CD38+IgM+ cells","Decreased proportion of transitional B cells"],[30379]],[30381,"Increased transitional B cell proportion",["Increased proportion of CD19+CD38+IgM+ cells","Increased proportion of transitional B cells"],[30379]],[30383,"Abnormal marginal zone B cell proportion",["Abnormal proportion of marginal zone B cells"],[30373]],[30384,"Decreased marginal zone B cell proportion",[],[30383]],[30385,"Increased marginal zone B cell proportion",[],[30383]],[30386,"Abnormal class-switched memory B cell proportion",["Abnormal proportion of CD19+CD27+IgD- cells","Abnormal proportion of class-switched memory B cells"],[30373]],[30387,"Increased class-switched memory B cell proportion",["Increased proportion of CD19+CD27+IgD- cells"],[30375,30386]],[30388,"Decreased class-switched memory B cell proportion",["Decreased proportion of CD19+CD27+IgD- cells","Decreased proportion of class-switched memory B cells"],[30374,30386]],[30389,"Abnormal circulating thromboxane concentration",["Abnormal thromboxane level"],[30361]],[30390,"Reduced circulating leukotriene C4 concentration",[],[30361]],[30391,"Spoken word recognition deficit",[],[2463]],[30392,"Choroid plexus carcinoma",[],[7376,100836]],[30393,"Endolymphatic sac tumor",["Aggressive papillary middle ear tumor","Aggressive papillary middle ear tumour","Endolymphatic sac tumour","Heffner tumor","Heffner tumour","Low-grade adenocarcinoma of endolymphatic sac origin"],[40096]],[30394,"Fallopian tube carcinoma",[],[33020]],[30396,"Abnormal platelet granule secretion",[],[11869]],[30397,"Abnormal platelet dense granule secretion",[],[30396]],[30398,"Abnormal platelet ATP dense granule secretion",[],[30397]],[30399,"Abnormal platelet alpha granule secretion",[],[30396]],[30400,"Abnormal platelet lysosome secretion",[],[30396]],[30401,"Abnormal platelet dense granule ATP/ADP ratio",[],[12484]],[30402,"Abnormal platelet aggregation",[],[11869]],[30403,"Spontaneous platelet aggregation",[],[30402]],[30404,"Glucagonoma",[],[30405]],[30405,"Pancreatic endocrine tumor",["Pancreatic endocrine tumour"],[100634]],[30406,"Primary peritoneal carcinoma",[],[7378]],[30407,"Pineocytoma",[],[30694]],[30408,"Pineoblastoma",["Pinealoblastoma"],[30694]],[30409,"Renal transitional cell carcinoma",["Renal urothelial carcinoma","Transitional renal cell carcinoma","renal TCC"],[9726]],[30410,"Sebaceous gland carcinoma",["Sebaceous carcinoma"],[12842]],[30411,"Jejunal adenocarcinoma",[],[40274]],[30412,"Ileal adenocarcinoma",[],[40274]],[30413,"Squamous cell carcinoma of the tongue",[],[20357,100648]],[30414,"Verrucous cell carcinoma of the tongue",[],[30413]],[30415,"Sarcomatoid carcinoma of the tongue",["Spindle cell carcinoma of the tongue"],[30413]],[30416,"Vulvar neoplasm",["Neoplasm of the vulva","Tumor of the vulva","Tumour of the vulva"],[33020]],[30417,"Squamous cell carcinoma of the vulva",["Vulval squamous cell carcinoma"],[30416]],[30418,"Vulvar melanoma",[],[30416]],[30419,"Bartholin gland carcinoma",[],[30416]],[30420,"Vulvar adenocarcinoma",[],[30416]],[30421,"Epididymal neoplasm",[],[10785]],[30423,"Splenic cyst",["Cyst on spleen"],[25408]],[30424,"Epididymal cyst",["Epididymal cysts"],[9714]],[30425,"Calcified ovarian cyst",[],[138]],[30426,"Ossifying fibroma",[],[10614]],[30427,"Ossifying fibroma of the jaw",[],[30426,100649]],[30428,"Cutaneous myxoma",[],[8069]],[30429,"Juvenile nasopharyngeal angiofibroma",[],[12288]],[30430,"Neuroma",["Nerve tumor","Nerve tumour","Pinched nerve"],[100007]],[30431,"Osteochondroma",["Osteocartilaginous exostoses","Osteochondromas"],[10622]],[30432,"Chondroblastoma",[],[10622]],[30433,"Osteoid osteoma",[],[100246]],[30434,"Pilomatrixoma",[],[12842]],[30436,"Fibrofolliculoma",["Fibrofolliculomas"],[8069]],[30437,"Anal canal neoplasm",["Anal canal tumor","Anal canal tumour"],[32186,100834]],[30438,"Anal canal squamous cell carcinoma",[],[30437]],[30439,"Anal canal adenocarcinoma",[],[30437,40275]],[30440,"Anal margin neoplasm",[],[7378]],[30441,"Anal margin Paget's disease",[],[30440]],[30442,"Anal margin squamous cell carcinoma",[],[30440]],[30443,"Anal margin basal cell carcinoma",[],[30440]],[30444,"Anal margin melanoma",[],[30440]],[30445,"Pulmonary carcinoid tumor",["Lung carcinoid tumor","Lung carcinoid tumour","Pulmonary carcinoid tumour"],[100570]],[30446,"Atypical pulmonary carcinoid tumor",["Atypical pulmonary carcinoid tumour"],[30445]],[30447,"Merkel cell skin cancer",["Anaplastic carcinoma of the skin","Cutaneous APUDoma","Merkel cell cancer of the skin","Neuroendocrine carcinoma of the skin","Neuroendocrine tumor of the skin","Neuroendocrine tumour of the skin","Primary small cell carcinoma of the skin","Primary undifferentiated carcinoma of the skin"],[8069,40192]],[30448,"Soft tissue sarcoma",["Soft tissue sarcomas"],[100242]],[30449,"Therapeutic abortion",[],[1787]],[30450,"Neoplasm of the autonomic nervous system",[],[100007]],[30451,"Mesenteric cyst",[],[100016]],[30452,"Chylolymphatic mesenteric cyst",[],[30451]],[30453,"Abnormal visual electrophysiology",[],[12373]],[30454,"Abnormal electrooculogram",["Abnormal EOG"],[30453]],[30455,"Abnormality of pattern visual evoked potentials",[],[649]],[30456,"Abnormality of pattern onset/offset visual evoked potentials",["Abnormality of pattern onset/offset VEP"],[30455]],[30457,"Abnormal amplitude of pattern onset/offset visual evoked potentials",["Abnormal amplitude of pattern onset/offset VEP"],[30456]],[30458,"Abnormal timing of pattern onset/offset visual evoked potentials",[],[30456]],[30460,"Abnormal timing of pattern reversal visual evoked potentials",[],[100289]],[30461,"Abnormal timing of flash visual evoked potentials",[],[7928]],[30462,"Abnormal amplitude of flash visual evoked potentials",[],[7928]],[30463,"Asymmetrical distribution of flash visual evoked potentials",["Crossed asymmetry of flash visual evoked potentials"],[7928]],[30464,"Asymmetrical distribution of pattern reversal visual evoked potentials",["Crossed asymmetry of pattern reversal visual evoked potentials"],[100289]],[30465,"Undetectable light-adapted electroretinogram",["Absent photopic (cone) responses on ERG","non-detectable photopic ERG"],[8275]],[30466,"Abnormal full-field electroretinogram",[],[512]],[30467,"Abnormal pattern electroretinogram",[],[512]],[30468,"Abnormal multifocal electroretinogram",[],[512]],[30469,"Abnormal dark-adapted electroretinogram",[],[30466]],[30470,"Abnormal dark-adapted bright flash electroretinogram",[],[30469]],[30471,"Abnormal dark-adapted dim flash electroretinogram",[],[30469]],[30472,"Abnormal light-adapted single flash electroretinogram",[],[8275]],[30473,"Abnormal light-adapted flicker electroretinogram",["Abnormal light adapted flicker electroretinogram","Abnormal light-adapted 30Hz flicker ERG","Abnormal light-adapted 30Hz flicker electroretinogram","Abnormal light-adapted flicker ERG"],[8275]],[30474,"Undetectable dark-adapted electroretinogram",[],[30469]],[30475,"Abnormal timing of dark-adapted dim flash electroretinogram",[],[30471]],[30476,"Abnormal amplitude of dark-adapted dim flash electroretinogram",[],[30471]],[30477,"Abnormal timing of dark-adapted bright flash electroretinogram",[],[30470]],[30478,"Abnormal amplitude of dark-adapted bright flash electroretinogram",[],[30470]],[30479,"Abnormal amplitude of light-adapted flicker electroretinogram",[],[30473]],[30480,"Abnormal timing of light-adapted flicker electroretinogram",[],[30473]],[30481,"Abnormal amplitude of light-adapted single flash electroretinogram",[],[30472]],[30482,"Abnormal timing of light-adapted single flash electroretinogram",[],[30472]],[30483,"Reduced amplitude of dark-adapted bright flash electroretinogram a-wave",[],[30478]],[30484,"Supernormal dark-adapted bright flash electroretinogram b-wave",["Relatively enhanced S-cone responses"],[30478]],[30485,"Abnormal amplitude of pattern electroretinogram",[],[30467]],[30486,"Abnormal timing of pattern electroretinogram",[],[30467]],[30487,"Abnormal P50/N95 ratio of pattern electroretinogram",[],[30467]],[30488,"Abnormal central response of multifocal electroretinogram",[],[30468]],[30489,"Abnormal paracentral response of multifocal electroretinogram",[],[30468]],[30490,"Exudative vitreoretinopathy",[],[7773]],[30491,"Choriocapillaris atrophy",[],[533]],[30493,"Abnormal foveal pigmentation",["Abnormality of foveal pigmentation"],[493,8002]],[30495,"Abnormal macular vasculature morphology",["Abnormal morphology of the macular vasculature","Abnormality of macular vasculature"],[1103,8046]],[30496,"Macular exudate",["Macular exudates","Macular exudation"],[30495]],[30497,"Macular cotton wool spot",[],[30500,31606]],[30498,"Macular thickening",[],[1103]],[30499,"Macular drusen",["Lipid accumulation in macula"],[11510,30500]],[30500,"Yellow/white macular lesion",["Yellow/white lesion of the macula"],[1103,30506]],[30501,"Macular crystals",["Refractile lesions in the macula"],[30500]],[30502,"Retinoschisis",[],[479]],[30503,"Macular telangiectasia",["Juxtafoveal telangiectasia","Parafoveal telangiectasia"],[7763,30495]],[30504,"Clustered congenital hypertrophy of retinal pigment epithelium",["Bear track congenital hypertrophy of retinal pigment epithelium","Grouped congenital hypertrophy of retinal pigment epithelium"],[7649]],[30505,"Nummular pigmentation of the retina",["Nummular pigmentation of the fundus"],[7703]],[30506,"Yellow/white retinal lesion",["Yellow/white lesions of the retina"],[479]],[30507,"Retinal crystals",[],[30506]],[30509,"Retinal racemose hemangioma",["Retinal racemose haemangioma"],[9594]],[30510,"Combined hamartoma of the retinal pigment epithelium and retina",[],[9594]],[30511,"Bradyopsia",["Difficulty seeing moving objects"],[504]],[30512,"Difficulty adjusting to changes in luminance",[],[504]],[30513,"Difficulty adjusting from light to dark",[],[30512]],[30514,"Difficulty adjusting from dark to light",[],[30512]],[30515,"Moderately reduced visual acuity",["Moderate reduction in visual acuity","Moderate vision loss","Moderate visual impairment","Moderate visual loss"],[7663]],[30516,"Homonymous hemianopia",["Homonymous hemianopsia"],[12377]],[30517,"Heteronymous hemianopia",["Heteronymous hemianopsia"],[12377]],[30518,"Congruous homonymous hemianopia",["Congruous hemianopsia"],[30516]],[30519,"Congruous heteronymous hemianopia",[],[30517]],[30520,"Binasal hemianopia",[],[30517]],[30521,"Bitemporal hemianopia",[],[30517]],[30522,"Mild constriction of peripheral visual field",["Mild peripheral visual field loss"],[1133]],[30525,"Moderate constriction of peripheral visual field",["Moderate peripheral visual field loss"],[1133]],[30526,"Severe constriction of peripheral visual field",["Severe peripheral visual field loss"],[1133]],[30527,"Very severe constriction of peripheral visual field",["Very severe peripheral visual field loss"],[1133]],[30528,"Paracentral scotoma",[],[575]],[30529,"Ring scotoma",["Annular scotoma"],[575]],[30530,"Arcuate scotoma",["Arc-shaped blind spot"],[575]],[30531,"Altitudinal visual field defect",[],[1123]],[30532,"Visual acuity test abnormality",[],[7663]],[30533,"Abnormal unaided visual acuity test",[],[30532]],[30534,"Abnormal best corrected visual acuity test",[],[30532]],[30535,"Abnormal pinhole visual acuity test",[],[30532]],[30536,"Unaided visual acuity 0.1 LogMAR",[],[30533]],[30537,"Unaided visual acuity 0.2 LogMAR",[],[30533]],[30538,"Unaided visual acuity 0.3 LogMAR",[],[30533]],[30539,"Unaided visual acuity 0.4 LogMAR",[],[30533]],[30540,"Unaided visual acuity 0.5 LogMAR",[],[30533]],[30541,"Unaided visual acuity 0.6 LogMAR",[],[30533]],[30542,"Unaided visual acuity 0.7 LogMAR",[],[30533]],[30543,"Unaided visual acuity 0.8 LogMAR",[],[30533]],[30544,"Unaided visual acuity 0.9 LogMAR",[],[30533]],[30545,"Unaided visual acuity 1.0 LogMAR",[],[30533]],[30546,"Unaided visual acuity 1.1 LogMAR",[],[30533]],[30547,"Unaided visual acuity 1.2 LogMAR",[],[30533]],[30548,"Unaided visual acuity 1.3 LogMAR",[],[30533]],[30549,"Unaided visual acuity 2.0 LogMAR",[],[30533]],[30550,"Unaided visual acuity 3.0 LogMAR",[],[30533]],[30551,"Visual acuity light perception with projection",[],[30532]],[30552,"Visual acuity light perception without projection",[],[30532]],[30553,"Visual acuity no light perception",[],[30532]],[30554,"Best corrected visual acuity 0.1 LogMAR",[],[30534]],[30555,"Best corrected visual acuity 0.2 LogMAR",[],[30534]],[30556,"Best corrected visual acuity 0.3 LogMAR",[],[30534]],[30557,"Best corrected visual acuity 0.4 LogMAR",[],[30534]],[30558,"Best corrected visual acuity 0.5 LogMAR",[],[30534]],[30559,"Best corrected visual acuity 0.7 LogMAR",[],[30534]],[30560,"Best corrected visual acuity 0.6 LogMAR",[],[30534]],[30561,"Best corrected visual acuity 0.8 LogMAR",[],[30534]],[30562,"Best corrected visual acuity 0.9 LogMAR",[],[30534]],[30563,"Best corrected visual acuity 1.0 LogMAR",[],[30534]],[30564,"Best corrected visual acuity 1.1 LogMAR",[],[30534]],[30565,"Best corrected visual acuity 1.2 LogMAR",[],[30534]],[30566,"Best corrected visual acuity 1.3 LogMAR",[],[30534]],[30567,"Best corrected visual acuity 2.0 LogMAR",[],[30534]],[30568,"Best corrected visual acuity 3.0 LogMAR",[],[30534]],[30569,"Pinhole visual acuity 0.1 LogMAR",[],[30535]],[30570,"Pinhole visual acuity 0.2 LogMAR",[],[30535]],[30571,"Pinhole visual acuity 0.3 LogMAR",[],[30535]],[30572,"Pinhole visual acuity 0.4 LogMAR",[],[30535]],[30573,"Pinhole visual acuity 0.5 LogMAR",[],[30535]],[30574,"Pinhole visual acuity 0.6 LogMAR",[],[30535]],[30575,"Pinhole visual acuity 0.7 LogMAR",[],[30535]],[30576,"Pinhole visual acuity 0.8 LogMAR",[],[30535]],[30577,"Pinhole visual acuity 0.9 LogMAR",[],[30535]],[30578,"Pinhole visual acuity 1.0 LogMAR",[],[30535]],[30579,"Pinhole visual acuity 1.1 LogMAR",[],[30535]],[30580,"Pinhole visual acuity 1.2 LogMAR",[],[30535]],[30581,"Pinhole visual acuity 1.3 LogMAR",[],[30535]],[30582,"Pinhole visual acuity 2.0 LogMAR",[],[30535]],[30583,"Pinhole visual acuity 3.0 LogMAR",[],[30535]],[30584,"Color vision test abnormality",["Colour vision test abnormality"],[551]],[30585,"Red desaturation",[],[30584]],[30586,"Abnormal Ishihara plate test",[],[30584]],[30587,"Abnormal Hardy-Rand-Rittler plate test",[],[30584]],[30588,"Abnormal visual field test",[],[1123]],[30589,"Abnormal confrontational visual field test",[],[30588]],[30590,"Abnormal Amsler grid test",[],[30588]],[30591,"Abnormal kinetic perimetry test",[],[30588]],[30592,"Abnormal static perimetry test",[],[30588]],[30593,"Abnormal manual kinetic perimetry test",[],[30591]],[30594,"Abnormal automated kinetic perimetry test",[],[30591]],[30595,"Abnormal static automated perimetry test",[],[30592]],[30596,"Abnormal Humphrey SITA 30-2 perimetry test",[],[30595]],[30597,"Abnormal Humphrey SITA 24-2 perimetry test",[],[30595]],[30598,"Abnormal Humphrey SITA 10-2 perimetry test",[],[30595]],[30599,"Abnormal Esterman grid perimetry test",[],[30595]],[30601,"Abnormal posterior segment imaging",[],[4329]],[30602,"Abnormal fundus autofluorescence imaging",[],[30601]],[30603,"Abnormal optical coherence tomography",[],[30601]],[30604,"Abnormal fundus fluorescein angiography",[],[30601]],[30605,"Abnormal indocyanine green angiography",[],[30601]],[30606,"Abnormal OCT-measured macular thickness",[],[30612]],[30607,"Reduced OCT-measured macular thickness",[],[30606]],[30608,"Increased OCT-measured macular thickness",[],[30606]],[30609,"Photoreceptor layer loss on macular OCT",[],[30612]],[30610,"Photoreceptor outer segment loss on macular OCT",[],[30612]],[30611,"Retinal pigment epithelial loss on macular OCT",[],[30603]],[30612,"Abnormal retinal morphology on macular OCT",[],[30603]],[30613,"Abnormal foveal morphology on macular OCT",[],[30612]],[30614,"Foveal photoreceptor layer loss on macular OCT",[],[30613]],[30615,"Foveal photoreceptor outer segment loss on macular OCT",[],[30613]],[30616,"Foveal retinal pigment epithelial loss on macular OCT",[],[30613]],[30617,"Abnormal OCT-measured foveal thickness",[],[30613]],[30618,"Increased OCT-measured foveal thickness",[],[30617]],[30619,"Reduced OCT-measured foveal thickness",[],[30617]],[30620,"Inner retinal layer loss on macular OCT",[],[30612]],[30621,"Foveal inner retinal layer loss on macular OCT",[],[30613]],[30622,"Abnormal foveal pit on macular OCT",[],[30613]],[30623,"Intraretinal hyporeflective spaces on macular OCT",[],[30625]],[30624,"Subretinal hyporeflective spaces on macular OCT",[],[30625]],[30625,"Hyporeflective spaces on macular OCT",[],[30612]],[30626,"Foveal intraretinal hyporeflective spaces on macular OCT",[],[30627]],[30627,"Foveal hyporeflective spaces on macular OCT",[],[30613]],[30628,"Foveal subretinal hyporeflective spaces on macular OCT",[],[30627]],[30629,"Perifoveal ring of hyperautofluorescence",[],[30602]],[30630,"Irregular central macular autofluorescence",[],[30602]],[30631,"Hyperautofluorescent macular lesion",[],[25158]],[30632,"Hypoautofluorescent macular lesion",["Hypo-autofluorescent macular lesion"],[25159]],[30633,"Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence",[],[30629]],[30634,"Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence",[],[30629]],[30636,"Occult macular dystrophy",[],[7754]],[30637,"Congenital stationary cone dysfunction",["Cone dysfunction","Cone dysfunction syndrome"],[12373]],[30642,"Fundus albipunctatus",[],[12045]],[30643,"Vitelliform-like retinal lesions",[],[30506]],[30644,"Blind-spot enlargement",["Blind spot enlargement"],[1123]],[30645,"Central",[],[12836]],[30646,"Peripheral",[],[12836]],[30647,"Paracentral",[],[12836]],[30648,"Midperipheral",["Mid-peripheral"],[12836]],[30649,"Pericentral",[],[12836]],[30650,"Focal",[],[12836]],[30651,"Multifocal",[],[12836]],[30652,"Vitreous haze",[],[11531]],[30654,"Umbilical cord cyst",[],[10881]],[30655,"Umbilical cord knot",[],[10881]],[30656,"Umbilical vein varix",[],[10881]],[30657,"Umbilical cord hematoma",["Umbilical cord haematoma"],[10881]],[30658,"Marginal umbilical cord insertion",["Battledore placenta","Marginal cord insertion"],[11418]],[30659,"Velamentous cord insertion",[],[11418]],[30660,"Furcate cord insertion",[],[11418]],[30661,"Vitreous snowballs",[],[11531]],[30662,"Vitreous inflammatory cells",[],[11531]],[30663,"Optically empty vitreous",[],[4327]],[30664,"Beevor's sign",[],[9023]],[30665,"Rubral tremor",["Holmes' tremor"],[1337]],[30666,"Retinal neovascularization",["Retinal vascular proliferation"],[8046]],[30667,"Peripheral retinal neovascularization",[],[30666]],[30668,"Periorbital dermoid cyst",[],[1144]],[30669,"Abnormal ocular adnexa morphology",[],[32039]],[30670,"Hamartoma of the orbital region",[],[315,10566]],[30671,"Abnormal common tendinous ring morphology",["Abnormality of the common tendinous ring"],[30669]],[30672,"Asteroid hyalosis",[],[4327]],[30673,"Erosive vitreoretinopathy",[],[7773]],[30674,"Antenatal onset",["Intrauterine onset","Onset in utero","Prenatal onset"],[3674]],[30675,"Contracture of proximal interphalangeal joints of 2nd-5th fingers",[],[1215]],[30676,"Satyr ear",["Devil ear"],[377]],[30677,"Mozart ear",[],[377]],[30679,"Ash-leaf spot",[],[9719]],[30680,"Abnormal cardiovascular system morphology",["Abnormality of cardiovascular system morphology","Cardiovascular malformations"],[1626]],[30681,"Abnormal morphology of myocardial trabeculae",[],[1637]],[30682,"Left ventricular noncompaction",[],[31192]],[30683,"Recurrent bacterial vaginosis",["Vaginitis","Vulvovaginitis"],[142,12649]],[30684,"Abnormal adiponectin level",[],[3117]],[30685,"Decreased adiponectin level",[],[30684]],[30686,"Increased adiponectin level",[],[30684]],[30687,"Abnormal circulating glucagon concentration",["Abnormal glucagon level"],[3117]],[30688,"Increased glucagon level",[],[30687]],[30689,"Decreased glucagon level",[],[30687]],[30690,"Gingival cleft",[],[168]],[30691,"Divergence nystagmus",[],[639]],[30692,"Brain neoplasm",["Brain tumor","Brain tumour"],[12443,100006]],[30693,"Supratentorial neoplasm",["Pineal parenchymal tumor","Pineal parenchymal tumour"],[30692]],[30694,"Pineal parenchymal cell neoplasm",[],[10799]],[30706,"Ranula",["Sublingual cyst","Sublingual ptyalocele"],[10286]],[30707,"Unilateral lung agenesis",["Unilateral pulmonary agenesis"],[6703]],[30708,"Myeloschisis",[],[10301,34237]],[30709,"Myelocystocele",[],[2196]],[30710,"Lipomeningocele",[],[2435]],[30711,"Hydrocolpos",[],[142]],[30712,"Uterine synechiae",["Asherman syndrome"],[31105]],[30713,"Vein of Galen aneurysmal malformation",["Median prosencephalic arteriovenous fistula","Vein of Galen aneurysm","Vein of Galen malformation"],[12480]],[30714,"Subchorionic thrombohematoma",["Breus' mole"],[100767]],[30715,"Bronchial atresia",["Congenital bronchial atresia"],[25426]],[30716,"Acrania",[],[2683]],[30717,"Meconium peritonitis",[],[2586]],[30718,"Right atrial enlargement",["Dilated right atrium","Enlarged heart right atrium","Right atrial dilatation"],[25580]],[30719,"Unguarded tricuspid valve",["Rudimentary tricuspid valve leaflets","Unguarded tricuspid valve orifice"],[11662]],[30720,"Subchorionic septal cyst",[],[100767]],[30721,"Tetraphocomelia",[],[9829]],[30722,"Ectopic liver",[],[410042]],[30723,"Congenital megalourethra",[],[795]],[30724,"Central nervous system cyst",["CNS cyst","Cyst of the central nervous system"],[2011]],[30725,"Neurenteric cyst",[],[30724]],[30726,"Spinal neurenteric cyst",[],[30725]],[30727,"Intracranial neurenteric cyst",[],[30725]],[30728,"Meromelia",[],[9826]],[30729,"Frontoethmoidal meningocele",["Frontoethmoid meningocele"],[2435]],[30730,"Parietal meningocele",[],[2435]],[30731,"Carcinoma",[],[31492]],[30732,"Dysplastic tricuspid valve",["Tricuspid valve dysplasia"],[1702]],[30733,"Vesicoallantoic abdominal wall defect",[],[10478]],[30735,"Ureterovesical junction obstruction",[],[6000]],[30736,"Sacrococcygeal teratoma",[],[5107,9792]],[30737,"Altman type I sacrococcygeal teratoma",[],[30736]],[30738,"Altman type II sacrococcygeal teratoma",[],[30736]],[30739,"Altman type III sacrococcygeal teratoma",[],[30736]],[30740,"Anomalous muscle bundle of the right ventricle",["Right ventricular anomalous muscle bundle"],[1707]],[30741,"Mediastinal teratoma",["Teratoma of the mediastinum"],[9792]],[30742,"Glial remnants posterior to lens",["Mittendorf dot"],[7968]],[30743,"Glial remnants anterior to the optic disc",["Bergmeister papilla"],[7968]],[30744,"Hyaloid vascular remnant and retrolental mass",[],[7968]],[30745,"Dilatation of the ductus arteriosus",["Aneurysm of the ductus arteriosus","Congenital ductus arteriosus aneurysm","Ductus arteriosus aneurysm"],[2617,11603]],[30746,"Intraventricular hemorrhage",["Intraventricular haemorrhage"],[2170]],[30747,"Preterm intraventricular hemorrhage",["Preterm intraventricular haemorrhage"],[30746]],[30748,"Grade I preterm intraventricular hemorrhage",["Germinal matrix haemorrhage","Germinal matrix hemorrhage","Grade I preterm intraventricular haemorrhage"],[30747]],[30749,"Grade II preterm intraventricular hemorrhage",["Grade II preterm intraventricular haemorrhage"],[30747]],[30750,"Grade III preterm intraventricular hemorrhage",["Grade III preterm intraventricular haemorrhage"],[30747]],[30751,"Grade IV preterm intraventricular hemorrhage",["Grade IV preterm intraventricular haemorrhage"],[30747]],[30752,"Dacryocystocele",["Timo cyst"],[579]],[30753,"Intrauterine fetal demise of one twin after midgestation",["Intrauterine foetal demise of one twin after midgestation","Single-twin demise"],[34059]],[30754,"Allantoic cyst",[],[10478]],[30755,"Craniofacial teratoma",[],[9792]],[30756,"Erythrodontia",["Red teeth"],[11073]],[30757,"Tooth abscess",["Dental abscess","Dentoalveolar abscess"],[11061,25615]],[30758,"Periapical tooth abscess",[],[30757]],[30759,"Adipocyte hypertrophy",["Fat cell hypertrophy"],[9124]],[30760,"Renal fibrosis",["Kidney fibrosis"],[12210]],[30762,"Mesangiolysis",[],[33232]],[30763,"Amniotic Sheet",["Amniotic shelf"],[11409]],[30764,"Ochronosis",["Ochronotic arthritis"],[11121]],[30765,"Sleep terror",["Night terror","Pavor nocturnus","Sleep terrors","Waking up screaming"],[25184,25235]],[30766,"Ear pain",["Otalgia","Pain in the ear"],[31704,46506]],[30767,"Epignathus",["Palatine teratoma"],[9792,100649]],[30769,"Exencephaly",[],[34237]],[30770,"Craniorachischisis",[],[34237]],[30771,"Mallet finger",[],[1167]],[30772,"Proximal femoral focal deficiency",[],[5613]],[30773,"Internuclear ophthalmoplegia",[],[602]],[30774,"Mitochondrial swelling",[],[12087]],[30775,"Modic type vertebral endplate changes",[],[3468]],[30776,"Modic type I vertebral endplate changes",["Modic type 1 vertebral endplate changes"],[30775]],[30777,"Modic type II vertebral endplate changes",["Modic type 2 vertebral endplate changes"],[30775]],[30778,"Modic type III vertebral endplate changes",["Modic type 3 vertebral endplate changes"],[30775]],[30779,"Ethmocephaly",[],[1360]],[30780,"Abnormality of the protein C anticoagulant pathway",[],[3256]],[30781,"Increased circulating free fatty acid level",[],[40300]],[30783,"Increased circulating interleukin 6 concentration",["Increased serum IL-6","Increased serum interleukin-6"],[6000441]],[30784,"Anomic aphasia",["Amnesic aphasia","Amnestic aphasia","Anomia","Nominal aphasia","Word-finding difficulty"],[2381]],[30785,"Mediastinal cystic lymphangioma",["Intrathoracic cystic hygroma","Thoracic cystic lymphangioma"],[100764]],[30786,"Photopsia",[],[504]],[30787,"Cerumen abnormality",[],[372]],[30788,"Impacted cerumen",[],[30787]],[30789,"Excessive cerumen",[],[30787]],[30790,"Abnormal cerumen color",["Abnormal cerumen pigmentation"],[30787]],[30791,"Abnormal jaw morphology",[],[11821]],[30792,"Jaw neoplasm",[],[12289,30791]],[30793,"Jaw swelling",[],[30791]],[30794,"Abnormal circulating C-peptide concentration",["Abnormal C peptide level","Abnormal C-peptide level"],[10876]],[30795,"Decreased circulating C-peptide concentration",["Decreased C-peptide concentration","Decreased C-peptide level","Decreased C-peptide level in blood","Reduced C peptide level","Reduced C-peptide concentration","Reduced C-peptide level","Reduced C-peptide level in blood"],[30794]],[30796,"Elevated circulating C-peptide concentration",["Elevated C-peptide concentration","Elevated C-peptide level","Elevated C-peptide level in blood","Increased C peptide level","Increased C-peptide concentration","Increased C-peptide level","Increased C-peptide level in blood"],[30794]],[30797,"Reduced volume of central subdivision of bed nucleus of stria terminalis",[],[30798]],[30798,"Abnormality of the bed nucleus of stria terminalis",[],[2500]],[30799,"Scaphocephaly",[],[268]],[30800,"Abnormal visual accommodation",[],[12373]],[30801,"Reduced visual accommodation",[],[30800]],[30802,"Lower eyelid retraction",[],[500043]],[30803,"Platonychia",[],[2164]],[30804,"Trachyonychia",[],[2164]],[30805,"Absent lunula",["Absent lunulae","Lunula absent","Lunulae absent"],[1597]],[30806,"Fast-growing nails",[],[30807]],[30807,"Abnormal nail growth",[],[1597]],[30808,"Ragged cuticle",[],[25755]],[30809,"Abnormal tongue morphology",[],[157,163]],[30810,"Abnormal tongue physiology",[],[157,31815]],[30811,"Tongue pain",["Painful tongue"],[30810,46506]],[30812,"Enlarged tonsils",["Enlargement of tonsils","Tonsillar hypertrophy","tonsils large/hypertrophy"],[100765]],[30813,"Absent tonsils",["Hypoplastic tonsils","Tonsillar hypoplasia"],[100765]],[30814,"Orange discolored tonsils",["Orange colored tonsils","Orange coloured tonsils","Orange discoloured tonsils","Orange tonsils","Tonsils with orange deposits"],[100765]],[30815,"Lipoma of the tongue",["Tongue lipoma"],[12032,100648]],[30816,"Gingival recession",["Gum recession","Receding gums"],[168]],[30817,"Beaked nails",[],[25755]],[30818,"Central nail canal",["Median nail dystrophy"],[8404]],[30819,"Ski jump nail",["Upslanting nail","Upward angulation of nail"],[25755]],[30820,"Hooded eyelid",[],[492]],[30821,"Hooded lower eyelid",[],[30820]],[30822,"Hooded upper eyelid",[],[30820]],[30823,"Scleral thickening",["Thick sclera"],[591]],[30824,"Mizuo phenomenon",["Mizuo-Nakamura phenomenon"],[1098]],[30825,"Absent foveal reflex",["Foveal reflex absent","Loss of foveal reflex"],[493]],[30826,"Eyelid fasciculation",["Eyelid fluttering","Fasciculation of the eyelid","Muscle twitches in eye lid","Muscle twitches in eyelid","Twitching around eyes"],[31785]],[30828,"Wheezing",[],[30829]],[30829,"Abnormal breath sound",["Abnormal lung auscultation finding"],[2795]],[30830,"Crackles",["Crepitations","Rales"],[30829]],[30831,"Rhonchi",[],[30829]],[30832,"Vitreous strands",[],[100832]],[30833,"Neck pain",[],[46506]],[30834,"Shoulder pain",[],[12531]],[30835,"Elbow pain",[],[12513]],[30836,"Wrist pain",[],[12513]],[30837,"Finger pain",[],[46505]],[30838,"Hip pain",[],[12531]],[30839,"Knee pain",["Pain under knee cap"],[12514]],[30840,"Ankle pain",[],[12514]],[30841,"Toe pain",[],[12514]],[30842,"Choking episodes",[],[100738]],[30843,"Cardiac amyloidosis",["Amyloid cardiomyopathy"],[1637,20015]],[30844,"Undetectable pattern electroretinogram",[],[30467]],[30845,"Heliotrope rash of eyelid",[],[492,40324]],[30846,"Abnormality of venous physiology",[],[30163]],[30847,"Abnormal jugular venous pressure",[],[30846]],[30848,"Elevated jugular venous pressure",[],[30847]],[30849,"Hepatojugular reflux",[],[30847]],[30850,"Abnormal pulse pressure",[],[30163]],[30851,"Low pulse pressure",[],[30850]],[30852,"High pulse pressure",[],[30850]],[30853,"Heterotaxy",["Heterotaxia"],[1507]],[30854,"Scleral staphyloma",["Staphyloma"],[591]],[30855,"Anterior staphyloma",[],[30854]],[30856,"Posterior staphyloma",[],[30854]],[30857,"Eye movement-induced pain",[],[200026]],[30858,"Addictive behavior",["Addictive behaviour"],[5200241]],[30859,"Anti-topoisomerase I antibody positivity",["Anti-Scl-70 antibody positivity","Anti-Scl70 antibody positivity","Top1 antibody positivity","Topoisomerase (DNA) I antibody positivity"],[33476]],[30860,"Abnormal CSF amyloid concentration",["Abnormal CSF A[beta]42 level","Abnormal CSF amyloid level"],[25456]],[30861,"Decreased CSF amyloid concentration",["Decreased CSF amyloid level"],[30860]],[30862,"Elevated CSF amyloid concentration",["Elevated CSF amyloid level"],[30860]],[30863,"Nasal flaring",[],[2098]],[30864,"Intercostal retractions",["Chest retractions"],[2098]],[30865,"Large elbow",["Prominent elbow"],[20300]],[30866,"Large knee",[],[34669]],[30867,"Vertical orbital dystopia",["Eyes at different heights","Misaligned eyes","Unequal eye height"],[100886]],[30868,"Monorchism",["Monorchidism"],[35]],[30869,"Anorchism",[],[35]],[30870,"Abnormality of spinal facet joint",["Abnormality of Z-joint","Abnormality of apophyseal joint","Abnormality of zygapophyseal joint","Abnormality of zygapophysial joint"],[3312]],[30871,"Facet joint arthrosis",["Facet arthritis"],[30870]],[30872,"Abnormal cardiac ventricular function",[],[11025]],[30873,"Anti-centromere antibody positivity",["ACA positivity","Anticentromere antibody positivity"],[3493]],[30874,"Oxygen desaturation on exertion",["O2 desaturation on exertion"],[12418]],[30875,"Abnormality of pulmonary circulation",["Abnormal pulmonary circulation","Abnormality of respiratory circulation"],[2795,30163]],[30876,"Increased pulmonary capillary wedge pressure",["Increased pulmonary arterial wedge pressure","Increased pulmonary artery occlusion pressure"],[30875]],[30877,"Reduced FEV1/FVC ratio",["Obstructive deficit on pulmonary function test","Obstructive deficit on pulmonary function testing"],[6536,30878]],[30878,"Abnormality on pulmonary function testing",["Abnormal pulmonary function test","Abnormal spirometry test"],[2795]],[30879,"Interlobular septal thickening",["Interlobular lines (pulmonary CT finding)","Peripheral lines (pulmonary CT finding)","Septal lines (pulmonary CT finding)","Septal thickening (pulmonary CT finding)","Short lines (pumonary CT finding)","Interlobular septal thickening on pulmonary HRCT"],[33711]],[30880,"Raynaud phenomenon",["Raynaud's phenomenon","Raynaud disease"],[25323]],[30881,"Shoulder impingement",[],[33129]],[30882,"Coronary artery aneurysm",["Coronary arterial dilatation","Coronary artery ectasia","Coronary artery dilatation"],[2617,6704]],[30883,"Femoroacetabular impingement",["Femoral acetabular impingement"],[1384]],[30884,"Gastrojejunal tube feeding in infancy",["Gastro-jejunal tube feeding in infancy"],[8872,33454]],[30885,"Recurrent parasitic infections",[],[2719,20108]],[30886,"Abnormal T cell apoptosis",[],[11840]],[30887,"Increased T cell apoptosis",[],[30886]],[30888,"C3 nephritic factor positivity",[],[30057]],[30889,"Congenital shortened small intestine",["Short bowel"],[2244]],[30890,"Hyperintensity of cerebral white matter on MRI",["White matter hyperintensity"],[2500]],[30891,"Periventricular white matter hyperintensities",["PVWMH"],[2518,30890]],[30892,"Deep cerebral white matter hyperintensities",["DWMH"],[30890]],[30893,"Abnormal response to short acting pulmonary vasodilator",[],[30875]],[30894,"Insufficient response to short acting pulmonary vasodilator",[],[30893]],[30895,"Abnormal gastrointestinal motility",["Abnormal GI motility"],[12719]],[30896,"Abnormal gastrointestinal transit time",["Abnormal GI transit time"],[30895]],[30897,"Decreased intestinal transit time",[],[30896]],[30898,"Pruritis on abdomen",[],[989]],[30899,"Pruritis on hand",[],[989]],[30900,"Pruritus on foot",["Itchy feet","Itchy foot"],[989]],[30901,"Pruritis on breast",[],[989]],[30902,"Palmomental reflex",[],[2476]],[30903,"Grasp reflex",["Palmar grasp reflex"],[2476]],[30904,"Glabellar reflex",["Myerson's sign"],[2476]],[30905,"Snout reflex",[],[2476]],[30906,"Suck reflex",["Persistent nutritive suckle swallow"],[2476]],[30907,"Thunderclap headache",[],[2315]],[30908,"Liver kidney microsome type 1 antibody positivity",["Anti-LKM-1 positive","Anti-LKM1 antibody positivity","Anti-liver kidney microsomal type 1 antibody positivity","Anti-type I liver-kidney microsomal antibody positivity"],[30057]],[30909,"Anti-liver cytosolic antigen type 1 antibody positivity",["Anti-liver cytosol antibody-1 positivity"],[30057]],[30911,"Bifid clitoris",[],[56]],[30912,"Duplicated clitoris",[],[56]],[30913,"Exaggerated rugosity of the labia majora",["Scrotum-like labia majora"],[12881]],[30914,"Abnormal peristalsis",[],[2579]],[30915,"Cerebellar edema",["Edema of the cerebellum","Oedema of the cerebellum"],[1317]],[30917,"Low APGAR score",[],[1197]],[30918,"Low 1-minute APGAR score",["Low one-minute APGAR score"],[30917]],[30919,"Low 5-minute APGAR score",["Low five-minute APGAR score"],[30917]],[30920,"5-minute APGAR score of 0",[],[30919]],[30921,"5-minute APGAR score of 1",[],[30919]],[30922,"5-minute APGAR score of 2",[],[30919]],[30923,"5-minute APGAR score of 3",[],[30919]],[30924,"5-minute APGAR score of 4",[],[30919]],[30925,"5-minute APGAR score of 5",[],[30919]],[30926,"5-minute APGAR score of 6",[],[30919]],[30927,"1-minute APGAR score of 0",[],[30918]],[30928,"1-minute APGAR score of 1",[],[30918]],[30929,"1-minute APGAR score of 2",[],[30918]],[30930,"1-minute APGAR score of 3",[],[30918]],[30931,"1-minute APGAR score of 4",[],[30918]],[30932,"1-minute APGAR score of 5",[],[30918]],[30933,"1-minute APGAR score of 6",[],[30918]],[30934,"Oral erythroplakia",["Oral erythroplasia"],[11830]],[30935,"Abnormal intestinal smooth muscle morphology",["Abnormality of intestinal smooth muscle morphology"],[2242]],[30936,"Abnormal layering of muscularis propria",["Muscularis propria malformation","Segmental additional circular muscle coat"],[30935]],[30937,"Fibrotic muscularis propria",[],[30935]],[30938,"Enteric intraneuronal nuclear inclusion bodies",[],[25029]],[30939,"Palpebral thickening",["Eyelid thickening","Thick eyelids","Thickened but nonswollen eyelids","Thickened eyelid"],[492]],[30943,"Vulvodynia",["Vulvar pain"],[12531]],[30946,"Conjunctival papillae",["Bumps under the upper eyelid","Tarsal papillae"],[502]],[30947,"Conjunctival follicles",[],[502]],[30948,"Elevated gamma-glutamyltransferase level",["Elevated serum GGT"],[34444]],[30949,"Glomerular deposits",[],[95]],[30950,"Pulmonary venous hypertension",[],[30875]],[30951,"Skeletal muscle fibrosis",["Muscle biopsy: fibrosis"],[11805]],[30952,"Birdshot choroidal lesions",["Birdshot laesions","Birdshot lesions","Birdshot retinochoroidopathy"],[610]],[30953,"Conjunctival hyperemia",["Conjunctival hyperaemia","Conjunctival injection","Conjunctival vascular congestion"],[502,25337]],[30955,"Addictive alcohol use",["Alcohol addiction","Alcoholism"],[5200329]],[30956,"Abnormality of cardiovascular system electrophysiology",[],[11025]],[30957,"Ventricular septal aneurysm",["Ventricular septal dilatation"],[10438]],[30958,"Membranous ventricular septal aneurysm",["Interventricular septum membranous part aneurysm","Aneurysm of the membranous ventricular septum"],[30957]],[30959,"Muscular ventricular septal aneurysm",["Aneurysm of the muscular ventricular septum"],[30957]],[30961,"Microspherophakia",[],[8063,34375]],[30962,"Abnormal morphology of the great vessels",[],[33353]],[30964,"Abnormal aortic physiology",[],[25323]],[30965,"Aortic stiffness",["Increased aortic stiffness"],[30964]],[30966,"Abnormal pulmonary artery morphology",[],[4414,30962]],[30967,"Abnormal pulmonary artery physiology",[],[4414]],[30968,"Abnormal pulmonary vein morphology",[],[11718,30962]],[30969,"Abnormal pulmonary vein physiology",[],[11718]],[30970,"Abnormal vena cava physiology",[],[30846]],[30972,"Abnormal systemic blood pressure",["Abnormal systemic BP"],[11025]],[30973,"Postexertional symptom exacerbation",["Exercise-induced malaise","Postexertional malaise"],[3546]],[30974,"Cryptozoospermia",["Cryptospermia"],[798]],[30975,"Pontine tegmental cap",["Vaulted pontine tegmentum"],[7361]],[30976,"Abnormal factor VIII activity",[],[10989]],[30977,"Increased factor VIII activity",["Elevated factor VIII level"],[30976]],[30978,"Decreased CSF/serum albumin ratio",[],[30981]],[30979,"Dilatation of large choroidal vessels",["Dilated choroidal vessels"],[610]],[30980,"Reduced brain glutamine level by MRS",[],[34496]],[30981,"Abnormal CSF/serum albumin ratio",[],[2921]],[30983,"Ovarian thecoma",[],[31918]],[30984,"Abnormal serum bile acid concentration",[],[10996]],[30985,"Decreased serum bile acid concentration",[],[30984]],[30986,"Biliary epithelial hyperplasia",[],[12440]],[30987,"Suppurative cholangitis",[],[30151]],[30988,"Granulomatous cholangitis",[],[30151]],[30989,"Lymphoid cholangitis",[],[30151]],[30990,"Pleomorphic cholangitis",[],[30151]],[30991,"Sclerosing cholangitis",["Fibrous cholangitis"],[30151]],[30992,"Abnormal pancreatic duct morphology",[],[12090]],[30993,"Duplication of pancreatic duct",["Duplicated pancreatic duct"],[30992]],[30994,"Pancreas divisum",[],[12090]],[30996,"Megaduodenum",[],[2246]],[30997,"Atretic vas deferens",["Atresia of the vas deferens","Vas deferens atresia"],[12872]],[30998,"Cerebrospinal fluid rhinorrhoea",["CSF rhinorrhoea"],[2921]],[30999,"Abnormal vestibular saccule morphology",["Abnormal saccule morphology","Morphological abnormality of the saccule"],[11376]],[31000,"Vestibular saccular degeneration",[],[30999]],[31001,"Minifascicle formation",[],[759]],[31002,"Neuritis",[],[759]],[31003,"Polyneuritis",["Multiple neuritis"],[31002]],[31004,"Hemiareflexia",[],[1284]],[31006,"Acroparesthesia",[],[3401]],[31007,"Orofacial action-specific dystonia induced by speech",["Jaw dystonia induced by speaking"],[12179]],[31008,"Lingual dystonia",["Tongue dystonia"],[12179]],[31009,"Ainhum",["Dactylolysis spontanea"],[1780]],[31010,"Hyperphalangy of the 3rd finger",["Hyperphalangy of third finger"],[30367]],[31011,"Fatty streak",["Sudanophilic lesion"],[2621]],[31012,"Thin-cap fibroatheroma",["TCFA"],[2621]],[31013,"Ankylosis",[],[1376]],[31015,"Intrahepatic portal vein sclerosis",["Idiopathic non-cirrhotic portal hypertension","Incomplete septal cirrhosis","Non cirrhotic portal fibrosis","Obliterative portal venopathy"],[31941]],[31016,"Alternating radiolucent and radiodense metaphyseal lines",["Zebra stripe sign"],[944]],[31017,"Swiss cheese atrial septal defect",[],[1631]],[31018,"Eccrine syringofibroadenoma",["Acrosyringeal adenomatosis","Eccrine syringofibroadenomatous hyperplasia","Syringofibroadenoma"],[8069]],[31019,"Pyknotic bone marrow neutrophils",[],[11992]],[31020,"Bone marrow hypercellularity",["Myeloid hyperplasia"],[12145]],[31021,"Squamous Papilloma",[],[12740]],[31022,"Oropharyngeal squamous papilloma",["Squamous papilloma of the uvula"],[31021]],[31023,"Multiple mucosal neuromas",[],[30430]],[31024,"Cylindroma",[],[12842]],[31025,"Gastric leiomyosarcoma",[],[6753]],[31026,"Snail-like ilia",["Snail-like pelvis","Snail-shaped ilia","Schneckenbecken dysplasia"],[2867]],[31027,"Internal notch of the femoral head",[],[3368]],[31028,"Lactescent serum",["Milk-like serum","Plasma lactescence"],[2155]],[31029,"Elevated circulating CEA concentration",["Elevated carcinoembryonic antigen level","Increased plasma CEA"],[10876]],[31030,"Elevated circulating mucin 16 concentration",["Elevated carcinoma antigen 125 level","Elevated circulating CA-125 concentration","Elevated mucin-16 concentration","Elevated mucin-16 level","Elevated mucin-16 level in blood","Increased mucin-16 concentration","Increased mucin-16 level","Increased mucin-16 level in blood","Increased plasma CA125"],[10876]],[31031,"Abnormal circulating retinol-binding protein concentration",[],[10876]],[31032,"Decreased circulating retinol-binding protein concentration",[],[31031]],[31033,"Impaired urinary acidification",["Renal acidification defect"],[12211]],[31034,"Abnormal circulating insulin-like growth factor-binding protein acid labile subunit concentration",["Abnormal insulin-like growth factor-binding protein complex acid labile subunit level"],[10876]],[31035,"Chronic infection",[],[32101]],[31036,"Decreased circulating GH-binding protein concentration",["Decreased plasma GH-binding protein"],[10876]],[31037,"Reduced insulin-like factor 3 level",["Reduced plasma INSL3 level"],[10876]],[31038,"Spermatogenesis maturation arrest",["Meiotic maturation arrest of spermatogenesis"],[8669]],[31039,"Spermatocyte maturation arrest",["Spermatocyte arrest","Spermatocyte meiotic arrest","Spermatocytic arrest"],[31038]],[31040,"Round spermatid arrest",["Maturation arrest of spermatogenesis at spermatid stage","Late spermatogenesis maturation arrest"],[31038]],[31041,"Obstruction of the superior vena cava",["Superior vena cava obstruction","Superior vena cava syndrome"],[25575]],[31042,"Strawberry tongue",["Raspberry tongue"],[30809]],[31043,"Type A4 brachydactyly",[],[9370]],[31044,"Type A5 brachydactyly",[],[9370]],[31045,"Acral blistering",[],[33800]],[31046,"Absent soft palate",["Agenesis of the soft palate"],[100736]],[31047,"Paraproteinemia",["Monoclonal hypergammaglobulinemia"],[10702]],[31048,"Light-chain paraproteinemia",[],[31047]],[31049,"Heavy-chain paraproteinemia",[],[31047]],[31050,"Whole-immunoglobulin paraproteinemia",[],[31047]],[31051,"Tarsal sclerosis",[],[9132,100925]],[31052,"Elevated vascular endothelial growth factor level",["Elevated circulating VEGF concentration"],[3117]],[31053,"Coarctation in the transverse aortic arch",[],[1680]],[31054,"Long segment coarctation of the aorta",[],[1680]],[31055,"Abnormal branching pattern of left aortic arch",[],[11587]],[31056,"Fusiform cerebral aneurysm",["Intracranial fusiform aneurysm"],[4944]],[31057,"Skin fissure",["Cracked skin","Skin fissuring"],[11355]],[31058,"Impairment of activities of daily living",[],[25142]],[31059,"Impaired ability to bathe oneself",[],[31058]],[31060,"Impaired ability to dress oneself",[],[31058]],[31061,"Impaired toileting ability",[],[31058]],[31062,"Impaired transferring ability",[],[31058]],[31063,"Impaired feeding ability",[],[31058]],[31064,"Impaired continence",[],[31058]],[31065,"Abnormal ovarian morphology",[],[137]],[31066,"Abnormal ovarian physiology",[],[30012]],[31067,"Empty ovarian follicle",["Empty follicle syndrome"],[31066]],[31069,"Abnormal femoral torsion",[],[2823]],[31071,"Abnormal endocrine morphology",[],[818]],[31072,"Abnormal endocrine physiology",[],[818]],[31073,"Abnormal response to endocrine stimulation test",[],[31072]],[31074,"Abnormal response to ACTH stimulation test",["Abnormal response to adrenocorticotropic-hormone stimulation test","Abnormal response to corticotropin stimulation test"],[31073]],[31075,"Abnormal response to insulin tolerance test",[],[31073]],[31076,"Impaired cortisol response to insulin stimulation test",[],[31075]],[31077,"Abnormal response to corticotropin releasing hormone stimulation test",["Abnormal response to CRH stimulation test"],[31073]],[31078,"Impaired cortisol response to corticotropin releasing hormone stimulation test",[],[31077]],[31079,"Impaired growth-hormone response to insulin stimulation test",[],[31075]],[31080,"Abnormal response to glucagon stimulation test",[],[31073]],[31081,"Impaired cortisol response to glucagon stimulation test",[],[31080]],[31082,"Impaired growth-hormone response to glucagon stimulation test",[],[31080]],[31083,"Abnormal response to human chorionic gonadotrophin stimulation test",["Abnormal response to hCG stimulation test"],[31073]],[31084,"Excessive insulin response to glucagon test",[],[31080]],[31085,"Decreased circulating prealbumin concentration",["Decreased prealbumin level","Decreased transthyretin concentration","Decreased transthyretin level","Decreased transthyretin level in blood","Reduced transthyretin concentration","Reduced transthyretin level","Reduced transthyretin level in blood"],[33450]],[31086,"Ectopic ovary",["Undescended ovary"],[31065]],[31087,"Absent pubertal growth spurt",["Absent adolescent growth spurt"],[1510]],[31088,"Vaginal dryness",[],[142]],[31089,"Palatal edema",["Palatal oedema","Palate edema","Palate oedema"],[174]],[31090,"Finger dactylitis",["Sausage fingers"],[1167]],[31091,"Toe dactylitis",["Sausage toes"],[1780]],[31092,"Spindle-shaped finger",[],[1167]],[31093,"Abnormal breast morphology",[],[769]],[31094,"Abnormal breast physiology",[],[769]],[31095,"Abnormal humerus morphology",["Abnormality of the humerus"],[11314,40070]],[31096,"Delayed vertebral ossification",[],[100569]],[31097,"Abnormal circulating thyroid-stimulating hormone concentration",["Abnormal TSH level","Abnormal circulating thyrotropin concentration","Abnormal thyrotropin level"],[3117]],[31098,"Decreased thyroid-stimulating hormone level",["Decreased plasma TSH","Decreased thyrotropin level"],[31097]],[31099,"Abnormal circulating inhibin level",[],[3117]],[31100,"Decreased circulating inhibin B concentration",[],[430147]],[31101,"Abnormal circulating antimullerian hormone concentration",["Abnormal antimullerian hormone level"],[3117]],[31102,"Increased circulating antimullerian hormone concentration",["Increased antimullerian hormone level","Increased plasma AMH"],[31101]],[31103,"Decreased circulating antimullerian hormone circulation",["Anti-Mullerian hormone low","Decreased antimullerian hormone level","Decreased plasma AMH"],[31101]],[31104,"Insulin receptor antibody positivity",[],[30057]],[31105,"Abnormal uterus morphology",[],[130]],[31106,"T-shaped uterus",[],[31105]],[31107,"Decreased fibular diameter",["Thin fibula"],[2991]],[31108,"Triceps weakness",[],[8997]],[31109,"Agalactia",["Lactation incapacity"],[31094]],[31110,"Twin-to-twin transfusion",["Twin to twin transfusion syndrome"],[34059]],[31111,"Cutaneous hamartoma",["Skin hamartoma"],[10566]],[31117,"Purely bicuspid aortic valve",[],[1647]],[31118,"Single raphe bicuspid aortic valve",[],[1647]],[31119,"Bicuspid aortic valve with right-left cusp fusion",[],[31118]],[31120,"Bicuspid aortic valve with right-noncoronary cusp fusion",[],[31118]],[31121,"Bicuspid aortic valve with left-noncoronary cusp fusion",[],[31118]],[31122,"Two-raphe bicuspid aortic valve",[],[1647]],[31123,"Recurrent gastroenteritis",[],[4798]],[31124,"Decreased platelet thromboxane A2 receptor",[],[11878]],[31125,"Decreased platelet alpha-2A-adrenergic receptor",[],[11878]],[31126,"Impaired clot retraction",[],[11869]],[31127,"Impaired convulxin-induced platelet aggregation",[],[3540]],[31128,"Impaired collagen-related peptide-induced platelet aggregation",[],[3540]],[31129,"Impaired phorbol myristate acetate-induced platelet aggregation",[],[3540]],[31130,"Impaired calcium ionophore-induced platelet aggregation",["Impaired Ca ionophore-induced platelet aggregation","Impaired Ca2+ ionophore-induced platelet aggregation"],[3540]],[31131,"Abnormal platelet phosphatidylserine exposure",[],[11869]],[31132,"Impaired annexin V binding to platelet phosphatidylserine",[],[31131]],[31133,"Increased annexin V binding to platelet phosphatidylserine",[],[31132]],[31134,"Cor triatriatum sinister",[],[10774]],[31135,"Triggered by physical trauma",["Physical trauma triggered symptoms"],[25204]],[31136,"Decreased acrosin in sperm head",[],[12865]],[31137,"Storage in hepatocytes",[],[34644]],[31138,"Abnormal circulating B-type natriuretic peptide concentration",["Abnormal B-type natriuretic peptide level"],[6000692]],[31139,"Frog-leg posture",[],[1252]],[31140,"Abnormal liver sonography",[],[410042]],[31141,"Increased hepatic echogenicity",["Hyperechogenic liver"],[31142]],[31142,"Abnormal hepatic echogenicity",[],[31140]],[31143,"Decreased hepatic echogenicity",["Hypoechogenic liver"],[31142]],[31144,"Coarsened hepatic echotexture",[],[31140]],[31145,"Starry sky appearance on hepatic sonography",[],[31140]],[31146,"Impaired oral bolus formation",[],[2015]],[31150,"Vitreomacular adhesion",["VMA"],[1103,4327]],[31151,"Vitreomacular traction",["VMT"],[1103,4327]],[31152,"Full-thickness macular hole",["FTMH"],[11508]],[31153,"Membranous vitreous appearance",["Membranous anomaly","Membranous vitreous","Membranous vitreous phenotype"],[4327]],[31154,"Beaded vitreous appearance",[],[4327]],[31155,"Increased Arden ratio of electrooculogram",["Increased Arden ratio of EOG"],[30454]],[31156,"Decreased platelet glycoprotein Ib",[],[11878]],[31157,"Carotid cavernous fistula",["Caroticocavernous fistula"],[5344]],[31158,"Widened atrophic scar",[],[1075]],[31159,"Thinning of Descemet membrane",[],[11490]],[31160,"Myelokathexis",[],[12135]],[31161,"Reduced brain glutamate level by MRS",[],[12705]],[31162,"Impaired oropharyngeal swallow response",[],[2015]],[31163,"Low femoral bone density",["Low femur bone density"],[2823]],[31164,"Growth arrest lines",["Growth resumption lines","Harris lines"],[31367]],[31165,"Multifocal seizures",["Multifocal onset seizures"],[7359]],[31166,"Eyelid myokymia",["Myokymia orbicularis","Orbicularis myokymia"],[2411]],[31167,"Triggered by ingestion of potassium-rich food",["Potassium-rich food triggered symptoms","Triggered by ingestion of K-rich food"],[33793]],[31169,"Postterm pregnancy",[],[1197]],[31170,"Female fetal virilization",["Female foetal virilization"],[34242]],[31171,"Femoral spur",["Spurring of femur"],[2823]],[31172,"Sectoral retinitis pigmentosa",[],[510]],[31173,"Tibial spur",["Spurring of tibiae"],[2992]],[31174,"Double-layered patella",[],[3045]],[31175,"Absent cervical vertebra",[],[8465]],[31176,"Absent thoracic vertebra",[],[8465]],[31177,"Finger flexor weakness",[],[30237]],[31178,"Fixed head retroflexion",[],[234]],[31179,"Nuchal rigidity",["Meningism"],[5986]],[31180,"Erythema migrans",["Erythema chronicum migrans"],[10783]],[31181,"Necrolytic migratory erythema",[],[10783]],[31185,"Elevated circulating NT-proBNP concentration",["Increased NT-proBNP level"],[31138]],[31186,"Abnormal circulating deoxycorticosterone level",[],[12112]],[31187,"Abnormal circulating pregnenolone concentration",["Abnormality of circulating pregnenolone level"],[33799]],[31188,"Genital edema",["Genital oedema"],[969]],[31189,"Wrist drop",[],[3484]],[31190,"Superficial dermal perivascular inflammatory infiltrate",["Superficial perivascular inflammatory infiltrate"],[11123]],[31191,"Deep dermal perivascular inflammatory infiltrate",["Deep perivascular inflammatory infiltrate"],[11123]],[31192,"Abnormal morphology of left ventricular trabeculae",[],[30681]],[31193,"Abnormal morphology of right ventricular trabeculae",[],[30681]],[31194,"Increased density of left ventricular trabeculae",[],[31192]],[31195,"Apical hypertrabeculation of the left ventricle",[],[31192]],[31196,"Thin myocardium compact layer",[],[31316]],[31197,"Cellular urinary casts",["Cellular casts"],[12615]],[31198,"Renal tubular epithelial cell casts",[],[31197]],[31199,"Acellular urinary casts",["Acellular casts"],[12615]],[31200,"Hyaline casts",[],[31199]],[31201,"Granular casts",[],[31199]],[31202,"Waxy casts",[],[31199]],[31203,"Fatty casts",[],[31199]],[31204,"Bacterial cell casts",[],[12615]],[31205,"Reduced lysosomal acid lipase activity",["Reduced leukocyte acid lipase activity"],[12379]],[31206,"Striatal T2 hyperintensity",[],[7183,10994]],[31207,"Hepatic hemangioma",["Hemangioma of the liver","Liver hemangioma"],[2896,410266]],[31208,"Increased pituitary glycoprotein hormone alpha subunit level",["Increased pituitary glycoprotein alpha subunit level","Increased pituitary glycoprotein polypeptide alpha subunit level"],[32481]],[31209,"Decreased circulating lipoprotein lipase concentration",["Decreased lipoprotein lipase level"],[33477]],[31210,"Abnormal circulating hyaluronic acid concentration",[],[11012]],[31211,"Elevated circulating cholesteryl ester concentration",["Elevated cholesteryl ester concentration","Elevated cholesteryl ester level","Elevated cholesteryl ester level in blood","Increased cholesterol esters","Increased cholesteryl ester concentration","Increased cholesteryl ester level","Increased cholesteryl ester level in blood","Increased cholesteryl esters"],[3107]],[31212,"Abnormal circulating progesterone level",[],[33799]],[31213,"Elevated circulating 17-hydroxyprogesterone concentration",["Elevated circulating 17-OHP","Elevated circulating 17-hydroxyprogesterone"],[31216]],[31214,"Decreased circulating dehydroepiandrosterone concentration",["Decreased circulating dehydroepiandrosterone level"],[500022]],[31215,"Decreased circulating dehydroepiandrosterone-sulfate concentration",["Decreased circulating dehydroepiandrosterone-sulfate level"],[30347]],[31216,"Increased circulating progesterone",[],[31212]],[31217,"Hot flashes",[],[25142]],[31218,"Inappropriate antidiuretic hormone secretion",["Inappropriate ADH secretion","SIADH","Syndrome of inappropriate antidiuretic hormone secretion"],[31072]],[31219,"Reduced radioactive iodine uptake",[],[31221]],[31220,"Increased radioactive iodine uptake",[],[31221]],[31221,"Abnormal radioactive iodine uptake test result",[],[2926]],[31222,"Elevated circulating thyroxine-binding globulin concentration",["Elevated thyroxine-binding globulin concentration","Elevated thyroxine-binding globulin level","Elevated thyroxine-binding globulin level in blood","Increased thyroxine-binding globulin concentration","Increased thyroxine-binding globulin level","Increased thyroxine-binding globulin level in blood","Thyroxine-binding globulin high in blood"],[34590]],[31223,"Focal pancreatic islet hyperplasia",[],[4510]],[31224,"Diffuse pancreatic islet hyperplasia",[],[4510]],[31225,"Intrapulmonary shunt",["Intrapulmonary shunting"],[30875]],[31226,"Perinephric fluid collection",[],[12210]],[31227,"Nasopharyngeal teratoma",[],[9792]],[31228,"Abnormal incisura morphology",[],[11039]],[31229,"Increased incisura length",[],[31228]],[31230,"Decreased incisura length",[],[31228]],[31231,"Narrow incisura width",[],[31228]],[31232,"Increased incisura width",[],[31228]],[31233,"Horizontal inferior border of scapula",["Squaring of the inferior scapulae","Squaring of the scapula"],[782]],[31234,"Neutrophilic infiltration of the skin",[],[11123]],[31235,"Predominantly epidermal neutrophilic infiltrate",[],[31234]],[31236,"Predominantly dermal neutrophilic infiltrate",[],[31234]],[31237,"Internally nucleated skeletal muscle fibers",["Internally nucleated skeletal muscle fibres"],[20201]],[31238,"Necklace skeletal muscle fibers",["Necklace skeletal muscle fibres"],[4303]],[31239,"Extrafoveal choroidal neovascularization",[],[11506]],[31240,"Juxtafoveal choroidal neovascularization",[],[11506,30495]],[31241,"Subfoveal choroidal neovascularization",[],[11506,30495]],[31242,"Decreased circulating chylomicron concentration",["Decreased circulating chylomicron levels","Hypochylomicronemia"],[10981,31887]],[31243,"Decreased circulating VLDL-C concentration",["Decreased circulating very-low-density lipoprotein levels","Decreased very-low-density lipoprotein cholesterol concentration","Decreased very-low-density lipoprotein cholesterol level","Decreased very-low-density lipoprotein cholesterol level in blood","Reduced very-low-density lipoprotein cholesterol concentration","Reduced very-low-density lipoprotein cholesterol level","Reduced very-low-density lipoprotein cholesterol level in blood"],[10981,31889]],[31244,"Swollen lip",["Edematous lip","Lip swelling","Swelling of the lip"],[159]],[31245,"Productive cough",["Cough with mucus production","Wet cough"],[12735]],[31246,"Nonproductive cough",["Dry cough","Dry coughing"],[12735]],[31247,"Whooping cough",[],[12735]],[31248,"Palmar pruritus",["Itchy palm"],[30899]],[31249,"Parageusia",["Altered sense of taste","Dysgeusia","Metallic taste","Metallic taste in mouth"],[223]],[31250,"Lip fissure",[],[159]],[31251,"Abnormal subclavian artery morphology",[],[11004]],[31252,"Dilated left subclavian artery",[],[31251]],[31253,"Anomalous origin of left subclavian artery",[],[31251]],[31254,"Thalamic arteriovenous malformation",[],[10663]],[31255,"Hypothalamic arteriovenous malformation",[],[12286]],[31256,"Optic nerve arteriovenous malformation",[],[587]],[31257,"Arteriovenous malformation of the maxilla",[],[326]],[31258,"Delirium",["Altered consciousness or cognition"],[1289]],[31259,"Oophoritis",["Inflammed ovary"],[31065]],[31260,"Triangular tibia",[],[2992]],[31261,"Bladder polyp",[],[25487]],[31263,"Abnormal renal corpuscle morphology",[],[11035,12575]],[31264,"Abnormal Bowman capsule morphology",["Abnormal morphology of Bowman capsule","Abnormal morphology of Bowman's capsule","Abnormal renal glomerular capsule morphology"],[31263]],[31265,"Abnormal glomerular visceral epithelial cell morphology",["Abnormal podocyte morphology","Abnormal visceral epithelial cell morphology"],[31264]],[31266,"Podocyte foot process effacement",["Loss of primary podocyte processes"],[31265]],[31267,"Abnormal CD69 upregulation upon TCR activation",[],[410035]],[31268,"Decreased CD69 upregulation upon TCR activation",[],[31267]],[31269,"Abnormal CD25 upregulation upon TCR activation",[],[410035]],[31270,"Decreased CD25 upregulation upon TCR activation",["Poor CD25 upregulation upon TCR activation","Reduced IL2RA upregulation upon TCR activation"],[31269]],[31271,"Absent ankle pulse",[],[32554]],[31272,"Pulmonary arterial atherosclerosis",[],[30966]],[31273,"Shock",[],[11025]],[31274,"Hypovolemic shock",[],[31273]],[31275,"Distributive shock",[],[31273]],[31276,"Obstructive shock",[],[31273]],[31278,"Abnormal thoracic duct morphology",[],[100766]],[31279,"Abnormal response to gonadotropin-releasing hormone stimulation test",["Abnormal response to GnRH stimulation test"],[31073]],[31280,"Increased LH response to gonadotropin-releasing hormone stimulation test",[],[31279]],[31281,"Sialadenitis",[],[10286]],[31282,"Malalignment of the great toenail",[],[8388]],[31283,"Tufted hairs",[],[11360]],[31284,"Flushing",[],[11354]],[31285,"Abnormal perifollicular morphology",[],[951]],[31286,"Perifollicular erythema",[],[31285]],[31287,"Seborrheic keratosis",["Basal cell papilloma","Seborrheic verruca","Senile wart"],[8069]],[31288,"Cobblestone-like hyperkeratosis",[],[962]],[31289,"White papule",[],[200034]],[31290,"Tuberous xanthoma",[],[991]],[31291,"Ichthyosis follicularis",[],[8064]],[31292,"Cutaneous abscess",["Skin abscess"],[11123,25615]],[31293,"Digital pitting scar",[],[100276]],[31294,"Hypoplastic right atrium",[],[25580]],[31295,"Left atrial enlargement",["Enlarged heart left atrium"],[25579]],[31296,"Atrial septal hypertrophy",[],[5120]],[31298,"Coronary sinus enlargement",["Coronary sinus dilatation","Enlarged coronary sinus"],[11642]],[31299,"Elevated left atrial pressure",[],[25443]],[31300,"Abnormal circulating properdin concentration",["Abnormal properdin level"],[25465]],[31301,"Peripheral arterial calcification",["Peripheral artery calcification"],[3207]],[31302,"Lower extremity peripheral arterial calcification",["Lower extremity peripheral artery calcification"],[31301]],[31303,"Femoral arterial calcification",[],[31302,35012]],[31304,"Iliac arterial calcification",[],[31302,4000066]],[31305,"Tibial arterial calcification",[],[31302]],[31306,"Intracranial arterial calcification",[],[3207]],[31307,"Internal carotid artery calcification",[],[31306,31314]],[31308,"Vertebral artery calcification",[],[30321,31306]],[31309,"Cerebral artery calcification",[],[31306]],[31310,"Basilar artery calcification",[],[31306]],[31311,"Middle cerebral artery calcification",[],[31309]],[31313,"Abdominal aortic calcification",[],[4963]],[31314,"Carotid artery calcification",[],[3207]],[31315,"External carotid artery calcification",[],[31314]],[31316,"Abnormal ventricular myocardium morphology",[],[1637]],[31317,"Fatty replacement of ventricular myocardial tissue",["Fatty infiltration of cardiac ventricle","Intramyocardial fat infiltration"],[1637]],[31318,"Myofiber disarray",["Myocardial fiber disarray","Myocardial fibre disarray"],[1637]],[31319,"Cardiomyocyte hypertrophy",["Myocyte cellular hypertrophy"],[31331]],[31320,"Cardiomyocyte mitochondrial proliferation",[],[31331]],[31321,"Myocardial immune cell infiltration",[],[1637]],[31322,"Myocardial lymphocytic infiltration",[],[31321]],[31323,"Myocardial eosinophilic infiltration",[],[31321]],[31324,"Myocardial multinucleated giant cells",[],[31321]],[31325,"Myocardial granulomatous infiltrates",[],[31321]],[31326,"Monoclonal light chain cardiac amyloidosis",[],[30843]],[31327,"Cardiac transthyretin amyloid deposition",["TTR cardiac amyloidosis","Transthyretin cardiac amyloidosis"],[20017,30843]],[31328,"Perivascular cardiac fibrosis",[],[1685,32200]],[31329,"Interstitial cardiac fibrosis",[],[1685]],[31330,"Perivascular myocardial immune cell infiltration",[],[31321]],[31331,"Abnormal cardiomyocyte morphology",["Abnormal cardiac muscle cell morphology"],[1627,25461]],[31332,"Cardiomyocyte degeneration",[],[31331]],[31333,"Myocardial sarcomeric disarray",["Cardiac biopsy: myocyte disarray","Cardiomyocyte disarray","Myocardial sarcomere disarray"],[31331]],[31334,"Cardiomyocyte inclusion bodies",[],[31331]],[31335,"Abnormal cardiomyocyte mitochondrial morphology",[],[31331]],[31336,"Intranuclear cardiomyocyte mitochondria",[],[31335]],[31337,"Abnormal cardiomyocyte connexin43 staining",[],[31331]],[31338,"Abnormal cardiomyocyte plakoglobin staining",[],[31331]],[31339,"Abnormal cardiomyocyte dystrophin staining",[],[31331]],[31340,"Abnormal lysosomal morphology",[],[25461]],[31341,"Gastric arteriovenous malformation",[],[2629]],[31342,"Duodenal arteriovenous malformation",[],[2629]],[31343,"Jejunal arteriovenous malformation",[],[2629]],[31344,"Pelvic arteriovenous malformation",[],[100026]],[31345,"Colonic arteriovenous malformation",[],[2629]],[31346,"Rectal arteriovenous malformation",[],[2629]],[31347,"Uterine arteriovenous malformation",[],[100026]],[31348,"Dextrotransposition of the great arteries",["D-TGA","D-loop transposition of the great arteries"],[1669]],[31350,"Cardiac sarcoma",[],[100544]],[31351,"Calcified amorphous tumor of the heart",["Calcified amorphous tumour of the heart"],[100544]],[31352,"Chest tightness",["Tightness in chest","Tightness of chest","Chest distress"],[25142]],[31353,"Otitis media with effusion",["Fluid behind eardrum","Middle ear effusions","OME"],[388]],[31354,"Sleep onset insomnia",["Difficulty falling asleep","Early insomnia","Increased sleep latency","Trouble falling asleep"],[100785]],[31355,"Maintenance insomnia",["Difficulty staying asleep","Insomnia middle","Middle insomnia","Waking up several times during the night"],[100785]],[31356,"Terminal insomnia",["Early morning awakening","Late insomnia","Premature awakening"],[100785]],[31357,"Glomeruloid hemangioma",[],[1028]],[31358,"Vegetative state",["Unresponsive wakefulness"],[4372]],[31359,"Cutaneous sclerotic plaque",[],[200035]],[31360,"Yellow skin plaque",[],[200035]],[31361,"Zebra bodies",[],[31340]],[31363,"Palpable purpura",[],[979]],[31364,"Ecchymosis",["Ecchymoses"],[31365]],[31365,"Macular purpura",["Flat purpura"],[979]],[31366,"Palate neoplasm",[],[100649]],[31367,"Metaphyseal striations",["Striated metaphysis"],[944]],[31368,"Intestinal perforation",[],[2242]],[31369,"Colon perforation",["Perforation of the colon"],[31368]],[31370,"Small intestinal perforation",[],[31368]],[31371,"Rectal perforation",[],[31368]],[31372,"Cold paresis",[],[1324]],[31373,"Stiff tongue",["Tongue stiffness"],[30809]],[31374,"Ankle weakness",[],[1324]],[31375,"Refractory",[],[12823]],[31377,"Abnormal cell proliferation",[],[11017]],[31378,"Abnormal lymphocyte proliferation",[],[31377,31409]],[31379,"Abnormal T cell proliferation",["Defective T cell proliferation"],[11840,31378]],[31380,"Abnormal B cell proliferation",[],[31378]],[31381,"Decreased mitogen-induced T-cell proliferation",["Decreased lymphocyte proliferation in response to mitogen","Reduced lymphocyte proliferation to mitogen"],[31379]],[31382,"Decreased anti-CD3/28-induced T-cell proliferation",["Decreased lymphocyte proliferation in response to anti-CD3","Defective lymphocyte proliferation to anti-CD3","Defective proliferation of lymphocytes following anti-CD3 stimulation"],[31381]],[31383,"Abnormal lymphocyte surface marker expression",[],[10978]],[31384,"Reduced T cell CD40 expression",[],[31383]],[31385,"Megakaryocyte nucleus hypolobulation",[],[12143]],[31386,"Increased micromegakaryocyte count",[],[12143]],[31387,"Increased multinucleated megakaryocyte count",[],[12143]],[31388,"Megakaryocyte nucleus hyperlobulation",[],[12143]],[31389,"Abnormal MHC II cell surface expression",["Abnormal human leukocyte antigen class II surface expression","Abnormal major histocompatibility complex class II surface expression"],[6001190]],[31390,"Reduced MHC II cell surface expression",["Abnormal HLA class II surface expression","Reduced human leukocyte antigen class II surface expression"],[31389]],[31391,"Elevated MHC II cell surface expression",[],[31389]],[31392,"Abnormal CD4+ T cell subset proportion",["Abnormal CD4+ T cell subset","Abnormal CD4+ T cell subsets","Abnormal helper T cell proportion","Abnormal proportion of CD4+ T cells","Abnormal proportion of CD4-positive T cells","Abnormal proportion of CD4-positive helper T cells","Abnormal proportion of CD4-positive, alpha-beta T cells","Abnormal proportion of circulating T-helper cells"],[25540]],[31393,"Abnormal total CD8+ T cell number",["Abnormal proportion of CD8+ T cells","Abnormal proportion of CD8-positive T cells","Abnormal proportion of CD8-positive, alpha-beta T cells"],[25540]],[31394,"Abnormal CD4:CD8 ratio",[],[25540]],[31396,"Abnormal naive T cell proportion",["Abnormal proportion of naive T cells","Abnormal proportion of naive thymus-derived, alpha-beta T cells"],[25540]],[31397,"Decreased naive T cell proportion",["Decreased proportion of naive T cells","Decreased proportion of naive thymus-derived, alpha-beta T cells","Reduced proportion of naive T cells"],[31396]],[31398,"Increased naive T cell proportion",["Elevated proportion of naive T cells","Increased proportion of naive T cells","Increased proportion of naive thymus-derived, alpha-beta T cells"],[31396]],[31399,"Abnormal double-negative T cell proportion",["Abnormal CD4-negative, CD8-negative regulatory T cell distribution","Abnormal DN Treg distribution","Abnormal Double negative Treg distribution","Abnormal double-negative regulatory T cell distribution","Abnormal proportion of double-negative regulatory T cell"],[25540]],[31401,"Decreased double-negative T cell number",["Reduced proportion of CD4-negative, CD8-negative T cells"],[31399]],[31402,"Decreased antigen-specific T cell proliferation",["Impaired cellular adaptive immune response","Antigen-specific T cell proliferation defect","Impaired Ag-specific T cell proliferation","Impaired activated T cell proliferation","Reduced antigen-specific T cell proliferation"],[31379,31404]],[31403,"Impaired pathogen-specific CD8 cytoxicity",["Pathogen-specific CD8 cytoxicity defect"],[31404]],[31404,"Impaired antigen-specific response",["Impaired adaptive immune response"],[10978]],[31405,"Poroma",[],[12842]],[31406,"Abnormal cytokine signaling",["Abnormal cytokine signalling"],[11111]],[31407,"Impaired cytokine signaling",["Cytokine signaling defect","Cytokine signalling defect","Impaired cytokine signalling"],[31406]],[31408,"Increased CD25+ mast cell proportion",[],[100494]],[31409,"Abnormal lymphocyte physiology",[],[11017,33796]],[31410,"Abnormal distribution of CD56 bright/dim natural killer cells",["Abnormal distribution of CD56 bright/dim NK cells"],[500033]],[31411,"Abnormal chromosome morphology",[],[25461]],[31412,"Abnormal telomere morphology",[],[31411]],[31413,"Short telomere length",[],[31412]],[31414,"Elevated circulating calcifediol concentration",["High serum 25-hydroxycholecalciferol","High serum calcidiol","High serum calcifediol"],[100511]],[31415,"Elevated circulating calcitriol concentration",["High serum 1,25-dihydroxycholecalciferol","High serum 1,25-dihydroxyvitamin D3","High serum calcitriol","Increased serum 1,25-dihydroxyvitamin D3","Increased serum calcitriol"],[100511]],[31416,"Abnormal nasal mucus secretion",[],[2795]],[31417,"Rhinorrhea",["Nasal Discharge","Runny Nose"],[31416]],[31418,"Increased body mass index",["Increased BMI"],[45081]],[31419,"Decreased circulating sex hormone-binding globulin concentration",["Decreased sex hormone-binding globulin concentration","Decreased sex hormone-binding globulin level","Decreased sex hormone-binding globulin level in blood","Reduced androgen-binding protein level","Reduced sex hormone-binding globulin concentration","Reduced sex hormone-binding globulin level","Reduced sex hormone-binding globulin level in blood"],[31438]],[31420,"Small yellow/white macular lesion",["Small yellow foveal lesion with surrounding gray zone","Small yellow foveal lesion with surrounding grey zone","Laser pointer-induced maculopathy","Laser pointer-induced retinopathy","Light induced retinopathy","Photic retinopathy","Solar retinitis","Solar retinopathy"],[30500]],[31421,"Small superior frontal cortex",[],[2472]],[31422,"Abnormal cerebellar cortex morphology",["Abnormal morphology of the cerebellar cortex"],[1317]],[31423,"Small cerebellar cortex",[],[31422]],[31424,"Abnormal circulating beta-CTX concentration",["Abnormal circulating beta-C-terminal telopeptide level","Abnormal circulating beta-CTx level","Abnormal circulating beta-CrossLaps level"],[10876]],[31425,"Elevated circulating beta-CTX concentration",["Increased circulating beta-C-terminal telopeptide level","Increased circulating beta-CTx level","Increased circulating beta-CrossLaps level"],[31424]],[31426,"Decreased circulating beta-CTX concentration",["Decreased circulating beta-C-terminal telopeptide level","Decreased circulating beta-CTx level","Decreased circulating beta-CrossLaps level"],[31424]],[31427,"Abnormal circulating osteocalcin level",[],[3117]],[31428,"Increased circulating osteocalcin level",[],[31427]],[31429,"Decreased circulating osteocalcin level",[],[31427]],[31430,"Oligoclonal T cell expansion",[],[25845]],[31431,"Persistent repetition of sounds",[],[4000072]],[31432,"Restricted or repetitive behaviors or interests",[],[5200241]],[31433,"Alexithymia",["Unaware of others' emotions"],[12760]],[31434,"Abnormal prosody",[],[2167]],[31435,"Monotonic speech",["Flat speech"],[5200010]],[31436,"Singsong Intonation",["Melodic speech","Sing song intonation","Sing-song intonation"],[5200010]],[31437,"Pregnancy exposure",["Exposure during pregnancy"],[2686]],[31438,"Abnormal circulating sex hormone-binding globulin concentration",["Abnormal sex hormone-binding globulin level"],[25465]],[31439,"Abnormal circulating angiostatin concentration",[],[25465]],[31441,"Abnormal tricuspid valve annulus morphology",[],[1702]],[31442,"Abnormal tricuspid chordae tendinae morphology",[],[1702]],[31443,"Abnormal tricuspid valve leaflet morphology",[],[1702]],[31444,"Dilatation of the tricuspid annulus",[],[31441]],[31445,"Oral mucosa nodule",[],[11830]],[31446,"Erosion of oral mucosa",[],[11830]],[31447,"Penile freckling",[],[36]],[31448,"Herpetiform vesicles",[],[200037]],[31449,"Perineal hemangioma",[],[1028]],[31450,"Polycyclic",[],[12836]],[31451,"Lower extremity subcutanous fat hypertrophy",[],[9124]],[31452,"Lichenoid skin lesion",[],[11355]],[31453,"Oral lichenoid lesion",[],[11830]],[31454,"Apocrine hidrocystoma",[],[12842]],[31455,"Presacral ganglioneuroma",[],[3005]],[31456,"Ectopic pregnancy",[],[2686]],[31457,"Pulmonary opacity",[],[31983]],[31458,"Adenoiditis",[],[3000033]],[31459,"Soft tissue neoplasm",[],[11793]],[31460,"Benign muscle neoplasm",[],[31459]],[31461,"Intramuscular myxoma",["IM Myxoma"],[31460]],[31462,"Musculotendinous retraction",[],[3549]],[31463,"Esophageal squamous papilloma",[],[100751]],[31464,"Genital blistering",[],[33800]],[31465,"Abnormal vasa vasorum morphology",[],[33353]],[31466,"Impairment in personality functioning",[],[708]],[31467,"Dysregulated negative emotional state",["Mood dysregulation","Feeling bad","Feeling out of sorts","Foul mood","Gloomy mood","In a funk","Negative attitude"],[100851]],[31468,"Separation insecurity",[],[739]],[31469,"Low self-esteem",["Worthlessness"],[5200242]],[31472,"Risky behavior",[],[734]],[31473,"Anger",["Extreme hostility","Furious","Fury","Rage","Unmanaged hostility","Wrath","Boiling mad","Hostile","Hostility","Pissed off","Explosive temper","Hostile outbursts","Prolonged resentment","Resentment"],[31467]],[31474,"Pulmonary chondroma",[],[100526]],[31475,"Status epilepticus without prominent motor symptoms",["Nonconvulsive status epilepticus"],[2133]],[31476,"Abnormal buccal mucosa cell morphology",[],[25461]],[31478,"Abnormal mitral valve annulus morphology",[],[1633]],[31479,"Dilatation of the mitral annulus",[],[1633]],[31480,"Abnormal mitral valve leaflet morphology",[],[1633]],[31481,"Abnormal mitral valve physiology",[],[31650]],[31482,"Abnormal regional left ventricular contraction",[],[5162]],[31483,"Reduced contraction of the left ventricular apex",["Left ventricular apical hypokinesis"],[31482]],[31484,"Cold-induced hemolysis",[],[1878]],[31485,"Subperiosteal bone formation",["Periosteal reaction"],[30313]],[31486,"Vascular malformation of the lip",[],[159]],[31487,"Capillary malformation of the lip",[],[31486]],[31488,"Arteriovenous malformation of the lip",["Atypical connection between arteries and veins"],[31486]],[31489,"Venous malformation of the lip",[],[31486]],[31490,"Hemangioma of the lip",[],[1028,31486]],[31491,"Continuous spike and waves during slow sleep",["CSWS","Electrical status epilepticus during slow-wave sleep"],[25373]],[31492,"Epithelial neoplasm",[],[11792]],[31493,"Glandular cell neoplasm",[],[31492]],[31494,"Ovarian mucinous tumor",["Mucinous neoplasm of the ovary","Ovarian mucinous tumour"],[31495]],[31495,"Mucinous neoplasm",[],[31493]],[31496,"Mucinous cystic neoplasm of the pancreas",[],[31495]],[31497,"Mucinous colorectal carcinoma",[],[31495]],[31498,"Mucinous gastric carcinoma",[],[31495]],[31499,"Appendiceal mucinous neoplasm",[],[31495]],[31500,"Abdominal mass",[],[1438]],[31501,"Pelvic mass",[],[1438]],[31502,"Trophoblastic tumor",["Trophoblastic tumour"],[100728]],[31503,"Night gasping",[],[2793]],[31504,"Foamy urine",["Frothy urine"],[33072]],[31505,"Abnormal circulating T4 concentration",["Abnormal circulating T4 level","Abnormal circulating thyroxine level"],[31508]],[31506,"Increased circulating T4 concentration",["Increased circulating T4 level","Increased circulating thyroxine level"],[31505]],[31507,"Decreased circulating T4 concentration",["Decreased circulating T4 level","Decreased circulating thyroxine level","Reduced T4 plasma level"],[31505]],[31508,"Abnormal circulating thyroid hormone concentration",["Abnormal thyroid hormone level"],[2926,3117]],[31509,"Dry nipple",[],[4404]],[31510,"Linear earlobe crease",[],[363]],[31511,"Diagonal earlobe crease",[],[363]],[31512,"Abnormal cutaneous collagen fibril morphology",[],[11121]],[31513,"Luse bodies",[],[31512]],[31514,"Increased exhausted T cell proportion",[],[41080]],[31515,"Abnormal meiosis",[],[33337]],[31516,"Metaphase I oocyte maturation arrest",["Metaphase I oocyte meiotic arrest","Oocyte arrest at metaphase I","Oocyte meiotic arrest at metaphase I"],[34914]],[31517,"Verruciform xanthoma",[],[991]],[31518,"Absent posterior alpha rhythm",[],[25373]],[31519,"Cauliflower deformity of dermal collagen fibrils",[],[31512]],[31520,"Groin pain",[],[12531]],[31521,"Vaginal clear cell adenocarcinoma",["Clear cell adenocarcinoma of the vagina"],[100650]],[31522,"Cervical clear cell adenocarcinoma",["Clear cell carcinoma of cervix"],[100650]],[31523,"Salivary gland oncocytoma",["Parotid oncocytoma"],[100684]],[31524,"Ampulla of Vater carcinoma",[],[7378]],[31525,"Keratoacanthoma",[],[8069]],[31526,"Subretinal fluid",["Sub-retinal fluid"],[479]],[31527,"Retinal edema",["Intra-retinal fluid","Intraretinal fluid"],[479]],[31528,"Subretinal deposits",[],[479]],[31531,"Sub-RPE deposits",[],[479]],[31534,"Passive dorsiflexion of the 5th finger more than 90 degrees",[],[4207]],[31535,"Increased theta frequency activity in EEG",[],[25373]],[31536,"Separate origin of the left anterior descending and left circumflex artery",[],[11636]],[31537,"Anomalous origin of the left circumflex artery from the right coronary artery",[],[25505]],[31538,"Abnormal dermoepidermal junction morphology",[],[11121]],[31539,"Linear IgA deposits along the epidermal basement membrane zone",[],[31538]],[31540,"Linear IgG deposits along the epidermal basement membrane zone",[],[31538]],[31541,"Linear C3 deposits along the epidermal basement membrane zone",[],[31538]],[31542,"Myelin-like whorls in vacuolated fibers",["Myelin-like whorls in vacuolated fibres"],[4303]],[31544,"Elevated circulating palmitoleylcarnitine concentration",["Elevated plasma palmitoleylcarnitine, C16:1"],[35021]],[31545,"Abnormally low T cell receptor excision circle level",[],[25540]],[31546,"Cardiac conduction abnormality",["Abnormality of cardiac conduction","Abnormality of cardiac conduction system","Cardiac conduction abnormalities","Cardiac conduction defects","Heart conduction disorder"],[30956]],[31547,"Abnormal QT interval",[],[3115]],[31548,"Follicular infundibulum tumor",["Basal cell hamartoma with follicular differentiation","Follicular infundibulum tumour"],[12842]],[31549,"Lymphocytoma cutis",["Skin pseudolymphoma","Spiegler-Fendt sarcoid"],[8069]],[31550,"Abnormal flow cytometry test result",[],[25354]],[31551,"Reduced cell surface marker level",[],[31550]],[31552,"Reduced fibroblast surface marker level",[],[31551]],[31553,"Reduced granulocyte surface marker level",[],[31551]],[31554,"Reduced granulocyte CD55 level",[],[31553]],[31555,"Reduced granulocyte CD59 level",[],[31553]],[31556,"Reduced granulocyte CD16 level",[],[31553]],[31557,"Reduced fibroblast CD55 level",[],[31552]],[31558,"Reduced fibroblast CD59 level",[],[31552]],[31559,"Reduced fibroblast CD16 level",[],[31552]],[31560,"Coronary cameral fistula",[],[11641]],[31561,"Coronary cameral fistula to right ventricle",[],[31560]],[31562,"Balanced double aortic arch",[],[11590]],[31563,"Coronary arteriovenous fistula",[],[11641]],[31564,"Bronchial isomerism",[],[31853]],[31565,"Abdominal situs ambiguus",[],[11620]],[31566,"Abnormal pulmonary valve cusp morphology",[],[1641]],[31567,"Abnormal aortic valve cusp morphology",[],[1646]],[31568,"Thickened aortic valve cusp",[],[31567]],[31569,"Absent aortic valve cusps",["Absent aortic valve"],[31567]],[31570,"Tessier number 0 facial cleft",["Tessier facial cleft number 0"],[100629]],[31571,"Paramedian facial cleft",[],[2006]],[31572,"Tessier number 1 facial cleft",[],[31571]],[31573,"Tessier number 2 facial cleft",[],[31571]],[31574,"Orbital cleft",[],[2006]],[31575,"Tessier number 3 facial cleft",[],[31574]],[31576,"Tessier number 4 facial cleft",[],[31574]],[31577,"Tessier number 5 facial cleft",[],[31574]],[31578,"Tessier number 6 facial cleft",["Tessier facial cleft number 6"],[100731]],[31579,"Tessier number 7 facial cleft",["Tessier cleft number 7","Tessier facial cleft number 7"],[100731]],[31580,"Tessier number 8 facial cleft",["Tessier facial cleft number 8"],[100731]],[31581,"Tessier number 9 facial cleft",[],[31574]],[31582,"Tessier number 10 facial cleft",[],[31574]],[31583,"Tessier number 11 facial cleft",[],[31574]],[31584,"Tessier number 12 facial cleft",[],[31571]],[31585,"Tessier number 13 facial cleft",[],[31571]],[31586,"Tessier number 14 facial cleft",["Tessier facial cleft number 14"],[100629]],[31587,"Tessier number 30 facial cleft",[],[100629]],[31588,"Unhappy demeanor",["Unhappy demeanour"],[5200261]],[31589,"Suicidal ideation",["Suicidal perseveration","Suicidality","Suicidal thoughts"],[25785]],[31590,"Asthenopia",["Eye strain"],[12373]],[31591,"Enlarged Eustachian valve",["Enlarged inferior vena cava valve","Giant Eustachian valve"],[25576]],[31592,"Situs inversus with levocardia",[],[11534]],[31593,"Abnormal PR interval",[],[3115]],[31594,"PR segment depression",["PR interval depression","PTa depression"],[31596]],[31595,"Abnormal P wave",[],[3115]],[31596,"Abnormal PR segment",[],[3115]],[31597,"PR segment elevation",["PR interval elevation","PTa elevation"],[31596]],[31598,"Notched P wave",[],[31595]],[31599,"P mitrale",[],[31595]],[31600,"P wave inversion",[],[31595]],[31601,"P pulmonale",[],[31595]],[31602,"Abnormal mucociliary clearance",["Abnormal mucociliary transport"],[2795]],[31603,"Impaired nasal mucociliary clearance",["Abnormal saccharine test"],[31602]],[31604,"Agenesis of the carotid canal",["Bony carotid canal agenesis"],[9911]],[31605,"Abnormal fundus pigmentation",["Abnormality of fundus pigmentation"],[1098]],[31606,"Retinal cotton wool spot",[],[30506]],[31607,"Pelvic organ prolapse",["Female genital prolapse","Vaginal hernia","Vaginal prolapse"],[142]],[31609,"Macular geographic atrophy",["Geographic atrophy","Geographic atrophy of the macula"],[1105]],[31610,"Recurrent shoulder dislocation",["Multiple shoulder dislocation"],[3834,31869]],[31611,"Sub-inner limiting membrane hemorrhage",["Sub-ILM haemorrhage","Sub-ILM hemorrhage","Sub-inner limiting membrane haemorrhage"],[573]],[31613,"Inferior chorioretinal coloboma",[],[567]],[31614,"Inferior retinal coloboma",[],[480]],[31615,"Hypopyon",[],[593]],[31616,"Anterior chamber flare",[],[593]],[31618,"Anterior chamber flare grade 1+",[],[31616]],[31619,"Anterior chamber flare grade 2+",[],[31616]],[31620,"Anterior chamber flare grade 3+",[],[31616]],[31621,"Anterior chamber flare grade 4+",[],[31616]],[31622,"Brown anomaly",["Brown syndrome"],[25068]],[31623,"Brow ptosis",["Drooping brow"],[534]],[31624,"Moderate myopia",[],[545]],[31625,"Pseudoaneurysm",[],[2617]],[31626,"Coronary ostial atresia",["Atresia of coronary ostium"],[11636]],[31627,"Globus pallidus calcification",[],[2453]],[31628,"Aborted sudden cardiac death",["Sudden cardiac arrest"],[1695]],[31629,"Impaired tandem gait",["Clumsy tandem walking"],[1288]],[31630,"Abnormal subpleural morphology",[],[2088]],[31631,"Subpleural honeycombing",[],[31630]],[31632,"Aberrant right subclavian artery",["Aberrant right subclavian artery syndrome","Anomalous origin of right subclavian artery","Anomalous origin of the right subclavian artery from the descending aorta","Anomalous right subclavian artery","Arteria lusoria","Lusorian artery"],[31251]],[31633,"Isolation of the left subclavian artery",[],[31251]],[31634,"Anomalous origin of the left common carotid artery from the main pulmonary artery",[],[430021]],[31635,"Anomalous origin of the left common carotid artery from the brachiocephalic artery",["Anomalous origin of the left common carotid artery from the brachiocephalic trunk"],[430021]],[31636,"Anomalous origin of the right common carotid artery from the aorta",[],[430021]],[31637,"Right coronary artery ostial atresia",[],[31626]],[31638,"Anomalous origin of the left anterior descending artery from the pulmonary artery",[],[11637]],[31639,"Absent left main coronary artery",["Absent LMCA"],[11636]],[31640,"Abnormal radial artery morphology",[],[11004]],[31643,"Fusiform ascending tubular aorta aneurysm",[],[4970]],[31644,"Fusiform abdominal aortic aneurysm",[],[5112]],[31645,"Saccular abdominal aortic aneurysm",[],[5112]],[31646,"Fusiform aortic arch aneurysm",[],[5113]],[31647,"Saccular aortic arch aneurysm",[],[5113]],[31648,"Penetrating aortic ulcer",[],[1679]],[31649,"Aortic rupture",[],[1679]],[31650,"Abnormal atrioventricular valve physiology",[],[31653]],[31651,"Abnormal tricuspid valve physiology",[],[31650]],[31652,"Abnormal aortic valve physiology",[],[31653]],[31653,"Abnormal heart valve physiology",[],[11025]],[31654,"Abnormal pulmonary valve physiology",[],[31653]],[31655,"Quadricuspid aortic valve",[],[31567]],[31656,"Systolic anterior motion of the mitral valve",[],[31481]],[31657,"Abnormal heart sound",[],[11025]],[31658,"Third heart sound",["S3","Ventricular gallop"],[33113]],[31659,"Fourth heart sound",["Atrial gallop","Presystolic gallop","S4"],[33113]],[31660,"Loud first heart sound",[],[31657]],[31661,"Abnormal second heart sound",[],[31657]],[31662,"Fixed splitting of the second heart sound",["Fixed splitting of S2"],[31661]],[31663,"Paradoxical splitting of the second heart sound",["Paradoxical splitting of S2","Reversed splitting of S2","Reversed splitting of the second heart sound"],[31661]],[31664,"Systolic heart murmur",[],[30148]],[31665,"Midsystolic murmur",[],[31664]],[31666,"Late systolic murmur",[],[31664]],[31667,"Holosystolic murmur",[],[31664]],[31668,"Diastolic heart murmur",[],[30148]],[31669,"Middiastolic murmur",[],[31668]],[31670,"Continuous heart murmur",[],[30148]],[31671,"Typical atrial flutter",[],[4749]],[31672,"Reverse typical atrial flutter",[],[4749]],[31673,"Orthodromic atrioventricular reentrant tachycardia",["Orthodromic AVRT"],[11717]],[31674,"Antidromic atrioventricular reentrant tachycardia",["Antidromic AVRT"],[11717]],[31675,"Fascicular left ventricular tachycardia",[],[4756]],[31676,"Monomorphic ventricular tachycardia",[],[4756]],[31677,"Polymorphic ventricular tachycardia",[],[4756]],[31678,"Atherosclerotic lesion",[],[2621]],[31679,"Type I atherosclerotic lesion",[],[31678]],[31680,"Type II atherosclerotic lesion",[],[31678]],[31681,"Type III atherosclerotic lesion",[],[31678]],[31682,"Type V atherosclerotic lesion",[],[31678]],[31683,"Type VI atherosclerotic lesion",[],[31678]],[31684,"Renal artery atherosclerosis",[],[8776]],[31685,"Abnormal stool composition",["Abnormal faeces composition","Abnormal feces composition","Abnormal faecal test result","Abnormal fecal test result"],[1939,25033]],[31686,"Increased stool alpha1-antitrypsin concentration",[],[31685]],[31687,"Abnormally loud pulmonic component of the second heart sound",["Accentuation of the pulmonic component of the second heart sound"],[31661]],[31688,"Erythroid dysplasia",["Dyserythropoiesis"],[12130]],[31689,"Megakaryocyte dysplasia",["Dysmegakaryopoiesis"],[12143]],[31690,"Opportunistic infection",[],[32101]],[31691,"Severe viral infection",[],[32169]],[31692,"Severe cytomegalovirus infection",[],[31691,5210146]],[31693,"Severe Epstein Barr virus infection",["Fulminant infectious mononucleosis","Severe EBV infection"],[31691,5210286]],[31694,"Severe adenovirus infection",[],[31691,5210101]],[31695,"Severe parainfluenza infection",["Disseminated parainfluenza infection","Invasive parainfluenza infection"],[31691,5210323]],[31696,"Disseminated viral infection",[],[33432]],[31697,"Disseminated infection with live vaccine virus",[],[31696]],[31699,"Disseminated cryptosporidium infection",["Disseminated cryptosporidiosis","Invasive Cryptosporidium infection","Severe Cryptosporidium infection"],[31690,5210119]],[31700,"Invasive parasitic infection",[],[20108,31690]],[31701,"Anterior chamber inflammatory cells",[],[593]],[31702,"Anterior chamber red blood cells",["Anterior chamber RBCs"],[593]],[31703,"Abnormal ear morphology",[],[598]],[31704,"Abnormal ear physiology",[],[598]],[31705,"Compensatory head posture",[],[496]],[31706,"Compensatory chin depression",[],[31705]],[31707,"Compensatory face turn to the right",[],[31705]],[31708,"Compensatory face turn to the left",[],[31705]],[31709,"Compensatory head tilt to the right shoulder",[],[31705]],[31710,"Compensatory head tilt to the left shoulder",[],[31705]],[31711,"Asymmetric abdominal aortic aneurysm",[],[5112]],[31713,"Constant exotropia",[],[577]],[31714,"Distance exotropia",[],[577]],[31715,"Near exotropia",[],[577]],[31716,"Cyclic exotropia",[],[577]],[31717,"Alternating exotropia",["Alternating strabismus"],[577]],[31718,"Consecutive exotropia",[],[577]],[31719,"True distance exotropia",[],[31714]],[31720,"Simulated distance exotropia",[],[31714]],[31721,"Sensory exotropia",["Secondary exotropia"],[577]],[31722,"Near esotropia",["Non-accomodative convergence excess esotropia"],[31760]],[31723,"Secondary esotropia",["Sensory esotropia"],[565]],[31724,"Microtropia",[],[32012]],[31725,"Hypophoria",[],[25588,32011]],[31726,"Incyclotropia",[],[31776]],[31727,"Excyclotropia",[],[31776]],[31728,"Mild hypermetropia",["Mild hyperopia"],[540]],[31729,"Moderate hypermetropia",["Moderate hyperopia"],[540]],[31730,"Axial myopia",[],[545]],[31731,"Increased tear production",[],[9926]],[31732,"Increased basal tear production",[],[31731]],[31733,"Reflex tearing",[],[31731]],[31734,"Lacrimal pump failure",[],[9926]],[31736,"Involutional entropion",[],[621]],[31737,"Cicatricial entropion",[],[621]],[31738,"Mechanical entropion",[],[621]],[31739,"Abnormal oblique muscle physiology",[],[25590]],[31740,"Abnormal horizontal rectus muscle physiology",[],[31755]],[31741,"Inferior oblique muscle underaction",[],[25598]],[31742,"Inferior rectus muscle underaction",[],[25601]],[31743,"Inferior rectus muscle overaction",[],[25600]],[31744,"Superior rectus muscle weakness",[],[25603]],[31745,"Superior rectus muscle overaction",[],[25603]],[31746,"Superior rectus muscle restriction",[],[31744]],[31747,"Superior rectus muscle underaction",[],[31744]],[31748,"Abnormal vertical rectus muscle physiology",[],[31755]],[31749,"Abnormal lateral rectus muscle physiology",[],[31740]],[31750,"Lateral rectus muscle weakness",[],[31749]],[31751,"Lateral rectus muscle underaction",[],[31750]],[31752,"Lateral rectus muscle overaction",[],[31749]],[31753,"Medial rectus muscle weakness",[],[25606]],[31754,"Medial rectus muscle overaction",[],[25606]],[31755,"Abnormal rectus muscle physiology",[],[25590]],[31756,"Medial rectus muscle underaction",[],[31753]],[31757,"Medial rectus muscle restriction",[],[31753]],[31758,"Lateral rectus muscle restriction",[],[31750]],[31759,"Basic constant esotropia",["Basic (constant) esotropia"],[31760]],[31760,"Non-accomodative esotropia",[],[565]],[31761,"Infantile constant esotropia",["Infantile (constant) esotropia"],[31760]],[31762,"Distance esotropia",["Divergence insufficiency"],[31760]],[31763,"Cyclic esotropia",[],[31760]],[31764,"Fully accomodative esotropia",[],[20046]],[31765,"Partially accomodative esotropia",["Constant esotropia with an accommodative component","Constant esotropia with an accommodative element"],[20046]],[31766,"Convergence excess esotropia",[],[20046]],[31767,"Consecutive esotropia",[],[565]],[31768,"Parafoveal fixation",[],[25549]],[31769,"Peripheral fixation",[],[25549]],[31770,"Epicanthus palpebralis",[],[286]],[31771,"Epicanthus tarsalis",[],[286]],[31772,"Abnormal posterior circulating artery morphology",[],[12518]],[31773,"Posterior communicating artery aneurysm",[],[31772]],[31774,"Posterior communicating artery infundibulum",[],[31772]],[31775,"Neurogenic strabismus",["Paralytic strabismus"],[486]],[31776,"Cyclotropia",[],[25589,32012]],[31777,"Cyclophoria",[],[25589,32011]],[31778,"Incyclophoria",[],[31777]],[31779,"Excyclophoria",[],[31777]],[31780,"Eosinophilic ascites",[],[1541,32064]],[31781,"Microtropia with identity",[],[31724]],[31782,"Microtropia without identity",[],[31724]],[31783,"Absent coronary sinus",[],[11642]],[31784,"Abnormal ascending aorta morphology",[],[1679]],[31785,"Abnormal eyelid movement",[],[31879]],[31786,"Cogan lid twitch",["Cogan eyelid twitch","Eyelid twitch","Lid twitch"],[31785]],[31787,"Oblique astigmatism",[],[483]],[31788,"With the rule astigmatism",[],[483]],[31789,"Against the rule astigmatism",[],[483]],[31790,"Mixed astigmatism",[],[483]],[31791,"Lenticular astigmatism",[],[483]],[31792,"Irregular astigmatism",[],[483]],[31793,"Increased serum leptin",["Elevated circulating leptin level"],[4361]],[31794,"Decreased circulating glycerol level",[],[31795]],[31795,"Abnormal circulating glycerol concentration",["Abnormal glycerol level"],[11013]],[31796,"Recurrent",["Intermittent"],[11008]],[31797,"Clinical course",["Natural history of disease"],[12823]],[31798,"Elevated circulating apolipoprotein B concentration",["Elevated ApoB level","Elevated apolipoprotein B level"],[33460]],[31799,"Decreased circulating apolipoprotein A-I concentration",["Decreased apo-AI level","Decreased apoA-I level","Decreased apolipoprotein A-I concentration","Decreased apolipoprotein A-I level","Decreased apolipoprotein A-I level in blood","Decreased apolipoprotein AI level","Reduced apolipoprotein A-I concentration","Reduced apolipoprotein A-I level","Reduced apolipoprotein A-I level in blood"],[33459]],[31800,"Elevated circulating apolipoprotein A-II concentration",["Elevated APOAII level","Elevated Apo-AII level","Elevated apoA-II level","Elevated apolipoprotein A-II concentration","Elevated apolipoprotein A-II level","Elevated apolipoprotein A-II level in blood","Increased apolipoprotein A-II concentration","Increased apolipoprotein A-II level","Increased apolipoprotein A-II level in blood"],[33460]],[31801,"Vocal cord dysfunction",[],[1608]],[31803,"Fundus hemorrhage",["Fundus haemorrhage"],[1098]],[31805,"Intraretinal hemorrhage",["Intraretinal haemorrhage"],[573]],[31806,"Abnormal total basophil count",[],[1912,32309]],[31807,"Increased total basophil count",["Basophilia","Increased basophil count"],[31806]],[31808,"Decreased total basophil count",["Decreased basophil count"],[31806]],[31809,"Archibald's sign",["Archibald's metacarpal sign","Knuckle dimple"],[5916]],[31810,"Anti-ganglioside antibody positivity",[],[30057]],[31811,"Bilirubinuria",[],[33354]],[31812,"Nitrituria",[],[33354]],[31813,"Colonic eosinophilia",["Eosinophilic colitis","Eosinophilic infiltration in the colon"],[2037,32064]],[31814,"Palilalia",[],[4000074]],[31815,"Abnormal oral physiology",[],[153]],[31816,"Abnormal oral morphology",[],[153]],[31817,"Decreased circulating parathyroid hormone level",["Decreased circulating PTH level","Decreased serum PTH","Decreased serum parathyroid hormone","Decreased serum parathyroid hormone level"],[100530]],[31818,"Abnormal waist to hip ratio",[],[4323]],[31819,"Increased waist to hip ratio",["Increased WHR","Increased waist-hip ratio","Increased waist-to-hip ratio"],[31818]],[31820,"Decreased waist to hip ratio",["Decreased WHR","Decreased waist-hip ratio","Decreased waist-to-hip ratio"],[31818]],[31821,"Abnormal hypoxanthine-guanine phosphoribosyltransferase level",["Abnormal 6-hydroxypurine phosphoribosyltransferase level","Abnormal GMP pyrophosphorylase level","Abnormal GPRT level"],[12379]],[31822,"Elevated hypoxanthine-guanine phosphoribosyltransferase level",["Elevated 6-hydroxypurine phosphoribosyltransferase level","Elevated 6-mercaptopurine phosphoribosyltransferase level","Elevated GMP pyrophosphorylase level"],[31821]],[31823,"Reduced hypoxanthine-guanine phosphoribosyltransferase level",["Reduced 6-hydroxypurine phosphoribosyltransferase level","Reduced 6-mercaptopurine phosphoribosyltransferase level","Reduced GMP pyrophosphorylase level"],[31821]],[31824,"Hepatic mastocytosis",[],[100495]],[31825,"Freezing of gait",["Freezing gait"],[1288]],[31826,"Abnormal reflex",[],[100022]],[31827,"Absent abdominal reflex",["Abdominal reflex absent"],[31828]],[31828,"Abnormal superficial reflex",[],[31826]],[31829,"Absent cremaster reflex",["Absent cremasteric reflex"],[31828]],[31830,"Pinguecula",[],[502]],[31831,"Decreased serum zinc",[],[8277]],[31832,"Hypermetric downward saccades",[],[7338]],[31833,"Hypometric upward saccades",[],[571]],[31834,"Aortopulmonary collateral arteries",[],[1679]],[31835,"Abnormal circulating superoxide dismutase activity",["Abnormal superoxide dismutase level","Abnormal superoxide:superoxide oxidoreductase activity"],[12379]],[31836,"Increased circulating superoxide dismutase concentration",["Increased superoxide dismutase level","Increased superoxide:superoxide oxidoreductase activity"],[31835]],[31837,"Decreased circulating superoxide dismutase concentration",["Decreased superoxide dismutase level","Decreased superoxide:superoxide oxidoreductase activity"],[31835]],[31838,"Presence of xenobiotic",[],[1939]],[31840,"Urine xenobiotic",[],[31838]],[31841,"Positive urine methadone test",[],[31840]],[31842,"Lymphangiectasis",["Lymphangiectasia"],[100766]],[31843,"Abnormally slow thought process",["Abnormally slow thought processes","Bradyphrenia","Mental slowness","Slow thought processes","Slowed thinking","Slowed thoughts","Slowness of thought"],[25769]],[31844,"Euphoria",["Hyperthymia","Hyperthymic state","Jubilation","Euphoric mood","Extreme elation","Inappropriate elation","Abnormally elevated mood","Excessive joyfulness","Inappropriately happy","Pathological cheerfulness"],[100851]],[31845,"Abnormal libido",[],[80,8768]],[31846,"Femur fracture",["Femoral fracture"],[2823,25736]],[31847,"Difficulty walking backward",[],[1288]],[31848,"Cock-walk gait",[],[31954]],[31849,"Sleep-wake inversion",["Inverted sleep-wake cycle","Reversed sleep-wake cycle","Sleep rhythm inversion"],[6979]],[31850,"Abnormal hematocrit",["Abnormal Hct"],[1877]],[31851,"Reduced hematocrit",["Low hematocrit","Reduced Hct"],[31850]],[31853,"Isomerism",[],[30853]],[31854,"Left Isomerism",["Left-sided isomerism"],[31853]],[31855,"Right isomerism",["Right-sided isomerism"],[31853]],[31856,"Hobby horse gait",[],[31954]],[31857,"Ineffective esophageal peristalsis",["Ineffective esophageal motility"],[25270,100771]],[31858,"Esophageal furrows",[],[2031]],[31860,"Abnormal heart rate variability",[],[11675]],[31861,"Decreased heart rate variability",["Reduced heart rate variability"],[31860]],[31862,"Increased heart rate variability",[],[31860]],[31863,"Bloodstream infectious agent",[],[430150]],[31864,"Bacteremia",["Bacteria in blood culture","Bacteria in blood cultures"],[31863]],[31865,"Abnormal liver physiology",["Abnormal hepatic physiology"],[1392,25155]],[31866,"Clasp-knife sign",[],[34353]],[31867,"Neck hypertonia",[],[1276]],[31868,"Optic ataxia",[],[1251]],[31869,"Recurrent joint dislocation",["Recurrent joint dislocations"],[1373]],[31870,"Phosphohydroxylysinuria",[],[33097]],[31871,"Abnormal Langerhans cell morphology",[],[25461]],[31872,"Absent Birbeck granules in Langerhans cells",[],[31871]],[31873,"Early chronotype",["Advanced sleep onset","Early sleep onset"],[6979]],[31874,"Late chronotype",["Delayed sleep onset","Late sleep onset"],[6979]],[31875,"Abnormal circulating hepcidin concentration",["Abnormal hepcidin level"],[10876]],[31876,"Decreased circulating hepcidin concentration",["Decreased hepcidin level"],[31875]],[31877,"Elevated circulating hepcidin concentration",["Elevated hepcidin level"],[31875,33331]],[31878,"Acromicria",[],[2813]],[31879,"Abnormal eyelid physiology",[],[32040]],[31880,"Eyelid laxity",["Lid laxity"],[31879]],[31881,"Decreased tear drainage",[],[9926]],[31882,"Agyria",["Agyria diffuse"],[1339]],[31883,"Increased proinsulin:insulin ratio",[],[11014]],[31884,"Abnormal CSF glucose concentration",["Abnormal CSF glucose level"],[25454]],[31885,"Hyperglycorrhachia",["Increased CSF glucose"],[31884]],[31886,"Abnormal LDL cholesterol concentration",["Abnormal LDL-C concentration","Abnormal LDL-C level","Abnormal LDLc concentration"],[10979]],[31887,"Abnormal chylomicron concentration",[],[10979]],[31888,"Abnormal circulating HDL-C concentration",["Abnormal high-density lipoprotein cholesterol level"],[10979]],[31889,"Abnormal circulating VLDL-C concentration",["Abnormal very-low-density lipoprotein cholesterol level"],[10979]],[31890,"Increased urine urobilinogen",[],[32472]],[31891,"Decreased total eosinophil count",["Decreased eosinophil count"],[20064]],[31898,"Rouleaux formation",["Increased rouleaux formation"],[1877]],[31899,"Abnormal coagulation factor V activity",["Abnormal factor V activity"],[10990]],[31901,"Elevated total serum tryptase",[],[12379]],[31903,"Abnormal circulating selenium concentration",["Abnormal serum selenium concentration"],[430071]],[31904,"Abnormal total hemolytic complement activity",["Abnormal CH50"],[5339]],[31905,"Increased total hemolytic complement activity",[],[31904]],[31907,"Anti-mitochondrial M2 antibody positivity",["AMA-M2 positive","Anti-pyruvate dehydrogenase antibody positivity"],[30057]],[31908,"Micrographia",[],[11446]],[31909,"Unicornuate uterus",[],[31105]],[31910,"Abnormal cranial nerve physiology",[],[12638]],[31911,"Abnormal fifth cranial nerve physiology",[],[31910]],[31912,"Trigeminal anesthesia",["Trigeminal anaesthesia"],[31911]],[31913,"Rhombencephalosynapsis",[],[1317]],[31914,"Fluctuating",[],[11008]],[31915,"Stable",[],[11008]],[31917,"Digital ulcer",[],[200042]],[31918,"Ovarian sex cord-stromal tumor",["Ovarian sex cord-stromal tumour"],[100615]],[31919,"Juvenile type ovarian granulosa cell tumor",["Juvenile type ovarian granulosa cell tumour","Ovarian juvenile granulosa cell tumor","Ovarian juvenile granulosa cell tumour"],[31918]],[31920,"Malignant ovarian granulosa cell tumor",["Malignant ovarian granulosa cell tumour"],[100615]],[31921,"Gastrocnemius myalgia",["Calf muscle pain","Calf myalgia"],[3326]],[31922,"Renal artery duplication",["Accessory renal artery","Double renal artery"],[8776]],[31923,"Hematocolpos",["Haematocolpos"],[142]],[31924,"Rope sign",[],[11355]],[31925,"Rosette",[],[25461]],[31926,"Homer Wright rosette",[],[31925]],[31927,"Flexner-Wintersteiner rosette",[],[31925]],[31928,"True ependymal rosette",[],[31925]],[31929,"Perivascular pseudorosette",[],[31925]],[31930,"Neurocytic rosette",["Pineocytomatous rosette"],[31925]],[31931,"Ocular flutter",[],[12547,32104]],[31932,"Aorto-left ventricular tunnel",["Left ventricle to aorta tunnel"],[11627]],[31933,"Aorto-right ventricular tunnel",["Right ventricle to aorta tunnel"],[11627]],[31934,"Abnormal descending aorta morphology",[],[1679]],[31935,"Ascending aorta hypoplasia",[],[31784]],[31936,"Delayed ability to walk",["Delayed walking"],[2194]],[31937,"Tachylalia",["Fast speech","Tachylogia"],[5200011]],[31938,"Abnormal conus terminalis morphology",["Abnormal conus medullaris morphology"],[2143]],[31939,"Conus terminalis arteriovenous malformation",[],[31938]],[31941,"Abnormal portal venous system morphology",[],[6707]],[31942,"Congenital absence of portal vein",["CAPV","Missing portal vein"],[31941]],[31943,"Akathisia",[],[711,4305]],[31944,"Pleural thickening",["Pleural incrassation"],[2103]],[31945,"Elevated circulating N,N-dimethylglycine concentration",["Elevated N,N-dimethylglycine level"],[33109]],[31946,"Elevated urinary N,N-dimethylglycine level",[],[33098]],[31947,"Tongue tremor",["Jerky movements of the tongue"],[30188]],[31948,"Snowball lesion of corpus callosum",[],[1273]],[31949,"Recurrent bacterial upper respiratory tract infections",["Recurrent bacterial URI"],[2788]],[31950,"Usual interstitial pneumonia",[],[6530]],[31951,"Nocturnal seizures",["Sleep seizures"],[1250]],[31952,"Neurogenic claudication",[],[1288]],[31953,"Cautious gait",["Senile gait"],[1288]],[31954,"Dystonic gait",[],[1288]],[31955,"Antalgic gait",["Limp"],[1288]],[31956,"Elevated circulating aspartate aminotransferase concentration",["Aspartate aminotransferase increased","Elevated serum AST","Elevated serum aspartate aminotransferase","Elevated serum glutamic oxaloacetic transaminase"],[2910]],[31957,"Spastic hemiparetic gait",["Wernicke-Mann gait"],[2064]],[31958,"Spastic paraparetic gait",[],[2064]],[31959,"Leg dystonia",[],[2451]],[31960,"Arm dystonia",[],[2451]],[31961,"Abnormal serum anion gap",[],[4360]],[31962,"Elevated serum anion gap",[],[31961]],[31963,"Decreased serum anion gap",[],[31961]],[31964,"Elevated circulating alanine aminotransferase concentration",["Alanine aminotransferase increased","Elevated serum ALT","Elevated serum alanine aminotransferase","Elevated serum glutamic-pyruvic transaminase"],[2910]],[31965,"Increased RBC distribution width",["Increased red blood cell distribution width"],[1877]],[31967,"Cloudy urine",["Turbid urine"],[33072]],[31969,"Reduced blood urea nitrogen",["Reduced BUN"],[31970]],[31970,"Abnormal blood urea nitrogen concentration",["Abnormal BUN concentration"],[4364]],[31971,"Subaortic ventricular septal bulge",[],[11103]],[31972,"Presyncope",[],[11025]],[31973,"Increased vertical cup-to-disc ratio",[],[12796]],[31974,"Increased vertical cup-to-disc ratio - 0.6",[],[31973]],[31975,"Increased vertical cup-to-disc ratio - 0.7",[],[31973]],[31976,"Increased vertical cup-to-disc ratio - 0.8",[],[31973]],[31977,"Increased vertical cup-to-disc ratio - 0.9",[],[31973]],[31978,"Increased vertical cup-to-disc ratio - 1.0",[],[31973]],[31979,"Abnormal urine carbohydrate level",[],[33354]],[31980,"Abnormal urine carboxylic acid level",[],[33354]],[31981,"Elevated urine glycolate",[],[31980]],[31982,"Abnormal putamen morphology",[],[10994]],[31983,"Abnormal pulmonary thoracic imaging finding",["Abnormal chest radiograph finding (lung)"],[12252]],[31984,"Esophageal food impaction",[],[2031]],[31985,"Esophageal exudate",[],[2031]],[31986,"Polyminimyoclonus",["Minipolymyoclonus","Facial-faucial-finger minimyoclonus"],[1336]],[31987,"Diminished ability to concentrate",["Concentration problems","Labored thinking","Lack of concentration","Poor concentration"],[25769,5200044]],[31989,"Perioral spasm",[],[3394]],[31990,"Chvostek sign",[],[4305]],[31991,"Increased urinary excretion of galactosyl hydroxylysine",[],[33354]],[31992,"Apical hypertrophic cardiomyopathy",[],[1639]],[31993,"Hoffmann sign",["Hoffmann's sign"],[7256]],[31994,"Bronchial breath sound",[],[30829]],[31995,"Squawks",[],[30828]],[31996,"Inspiratory crackles",[],[30830]],[31997,"Early inspiratory crackles",[],[31996]],[31998,"Late inspiratory crackles",[],[31996]],[31999,"Expiratory crackles",[],[30830]],[32000,"Pleural rub",[],[30829]],[32001,"Pink urine",[],[12086]],[32002,"Orange urine",[],[12086]],[32003,"Green urine",[],[12086]],[32004,"Pruritus vulvae",[],[989]],[32005,"Hemidystonia",[],[1332]],[32006,"Lip tremor",[],[30188]],[32007,"Maceration",["Maceration of the skin","Skin maceration"],[11121]],[32008,"Pulmonary fat embolism",["Fat embolism"],[2204]],[32009,"Infantile constant exotropia",["Infantile (constant) exotropia"],[31713]],[32010,"Basic constant exotropia",["Basic (constant) exotropia"],[31713]],[32011,"Heterophoria",[],[486]],[32012,"Heterotropia",[],[486]],[32013,"Hypermetric horizontal saccades",[],[7338]],[32014,"Dysmetric vertical saccades",[],[641]],[32015,"Dysmetric horizontal saccades",[],[641]],[32016,"Abnormal sputum",["Abnormal sputum morphology"],[12252]],[32017,"Sputum eosinophilia",[],[32016]],[32018,"Multiple mononeuropathy",["Mononeuritis multiplex"],[9830]],[32019,"Muscle eosinophilia",["Eosinophilic infiltration of skeletal muscle"],[11805]],[32020,"Eosinophilic bladder infiltration",["Eosinophilic cystitis"],[25487]],[32021,"Eosinophilic liver infiltration",["Eosinophilic hepatitis"],[30146,32064]],[32022,"Eosinophilic dermal infiltration",["Eosinophilic dermatitis"],[11123]],[32023,"Eosinophilic gallbladder infiltration",["Eosinophilic cholecystitis"],[12437,32064]],[32024,"Ileal ulcer",[],[1549,34274]],[32025,"Decreased circulating alpha-1-antitrypsin concentration",["Decreased alpha-1-antitrypsin concentration","Decreased alpha-1-antitrypsin level","Decreased alpha-1-antitrypsin level in blood","Reduced alpha-1-antitrypsin concentration","Reduced alpha-1-antitrypsin level","Reduced alpha-1-antitrypsin level in blood","Reduced serum alpha-1-antitrypsin"],[10876]],[32026,"Anetoderma",[],[11355]],[32027,"Retinal dots",[],[30506]],[32028,"Macular dots",[],[30500]],[32029,"Floppy eyelid",[],[31880]],[32030,"Lateral canthal tendon laxity",[],[31880]],[32031,"Medial canthal tendon laxity",[],[31880]],[32032,"Horizontal eyelid laxity",[],[31880]],[32033,"Vertical eyelid laxity",[],[31880]],[32034,"Upper eyelid laxity",[],[31880]],[32035,"Lower eyelid laxity",[],[31880]],[32036,"Reduced contrast sensitivity",["Abnormal contrast sensitivity"],[504]],[32037,"Mildly reduced visual acuity",["Mild reduction in visual acuity","Mild vision loss","Mild visual loss"],[7663]],[32039,"Abnormality of the ocular adnexa",[],[315]],[32040,"Abnormal ocular adnexa physiology",[],[32039]],[32041,"Vocal cord polyp",[],[8777]],[32043,"Odynophagia",["Painful swallowing"],[12719]],[32044,"Decreased vigilance",["Decreased alertness"],[4372]],[32045,"Hypoplastic carotid canal",[],[9911]],[32046,"Focal cortical dysplasia",[],[2539]],[32047,"Focal cortical dysplasia type I",[],[32046]],[32048,"Focal cortical dysplasia type Ia",[],[32047]],[32049,"Focal cortical dysplasia type Ib",[],[32047]],[32050,"Focal cortical dysplasia type Ic",[],[32049]],[32051,"Focal cortical dysplasia type II",[],[32046]],[32052,"Focal cortical dysplasia type IIa",[],[32051]],[32053,"Focal cortical dysplasia type IIb",[],[32051]],[32054,"Focal cortical dysplasia type III",[],[32046]],[32055,"Focal cortical dysplasia type IIIa",[],[32054]],[32056,"Focal cortical dysplasia type IIIb",[],[32054]],[32057,"Focal cortical dysplasia type IIIc",[],[32054]],[32058,"Focal cortical dysplasia type IIId",[],[32054]],[32059,"Mild malformation of cortical development",[],[2539]],[32060,"Epithelioid hemangioma",["Angiolymphoid hyperplasia with eosinophilia"],[1028]],[32061,"Severely increased total eosinophil count",["Hypereosinophilia"],[1880]],[32062,"Mallory-Weiss tear",[],[2031]],[32063,"Ankle joint effusion",[],[34673]],[32064,"Gastrointestinal eosinophilia",["Eosinophilic enteritis","Eosinophilic gastroenteritis","GI eosinophilia","Eosinophilic gastrointestinal disease","Eosinophilic gastrointestinal disorders"],[12718]],[32065,"Abnormal circulating bicarbonate concentration",["Abnormal serum HCO3 concentration","Abnormal serum bicarbonate concentration"],[4360,20330]],[32066,"Decreased serum bicarbonate concentration",["Decreased serum HCO3 concentration"],[32065]],[32067,"Elevated serum bicarbonate concentration",["Elevated serum HCO3 concentration"],[32065]],[32068,"Increased urinary mucus",[],[33072]],[32069,"Anti-thyroglobulin antibody positivity",["Anti-thyroid globulin antibody positivity","TgAbs"],[430050]],[32070,"Leptomeningeal enhancement",[],[10651]],[32071,"Eosinophilic pneumonia",["Eosinophilic pulmonary infiltration","Pulmonary eosinophilic infiltrate","Pulmonary eosinophilic infiltration","Pulmonary eosinophilia"],[6530]],[32072,"Popliteal synovial cyst",["Baker's cyst"],[34669]],[32073,"Aplasia of the fallopian tube",[],[8655]],[32075,"Splenopancreatic fusion",[],[12090,25408]],[32076,"Abnormal male urethral meatus morphology",[],[36]],[32077,"Male urethral meatus stenosis",["Meatal stenosis","Meatus stenosis"],[8661,32076]],[32078,"Angel-shaped phalanx",[],[5918]],[32079,"Medial degeneration",[],[1679]],[32081,"Intralamellar mucoid extracellular matrix accumulation",[],[200146]],[32082,"Translamellar mucoid extracellular matrix accumulation",[],[200146]],[32083,"Aortic elastic fiber fragmentation",["Aortic elastic fibre fragmentation"],[32079]],[32084,"Aortic elastic fiber thinning",["Aortic elastic fibre thinning"],[32079]],[32085,"Aortic elastic fiber disorganization",["Aortic elastic fibre disorganisation"],[32079]],[32086,"Aortic smooth muscle cell nuclei loss",[],[32079]],[32087,"Aortic laminar medial collapse",[],[32079]],[32088,"Aortic smooth muscle cell disorganization",["Aortic smooth muscle cell disorganisation"],[32079]],[32089,"Aortic medial fibrosis",[],[32079]],[32090,"Intralamellar aortic medial fibrosis",[],[32089]],[32091,"Translamellar aortic medial fibrosis",[],[32089]],[32092,"Left ventricular outflow tract obstruction",[],[5162]],[32094,"Elevated circulating surfactant protein concentration",["Increased serum surfactant protein level"],[10876]],[32096,"Abnormal circulating manganese concentration",["Abnormal manganese cation level","Abnormal manganese concentration"],[10927,11030]],[32097,"Hypermanganesemia",["Elevated manganese cation concentration","Elevated manganese cation level","Elevated manganese cation level in blood","Increased blood manganese concentration","Increased manganese cation concentration","Increased manganese cation level","Increased manganese cation level in blood"],[32096]],[32098,"Hypomanganesemia",["Decreased manganese cation concentration","Decreased manganese cation level","Decreased manganese cation level in blood","Reduced manganese cation concentration","Reduced manganese cation level","Reduced manganese cation level in blood"],[32096]],[32099,"Perioral radial furrowing",[],[11355]],[32100,"Abnormal doll's eye reflex",[],[7670]],[32101,"Unusual infection",[],[10978]],[32102,"Wilson sign",[],[30839]],[32104,"Saccadic oscillation",["Saccadic oscillations"],[570]],[32105,"Macrosaccadic oscillations",["Macrosaccadic oscillation"],[32104]],[32106,"Conjunctival icterus",["Scleral icterus","Yellow conjunctiva","Yellow sclera","Yellowing of the whites of the eyes"],[502]],[32107,"Limbal stem cell deficiency",[],[4328]],[32108,"Mildly reduced contrast sensitivity",["Mild reduction in contrast sensitivity"],[32036]],[32109,"Moderately reduced contrast sensitivity",["Moderate reduction in contrast sensitivity"],[32036]],[32110,"Severely reduced contrast sensitivity",[],[32036]],[32111,"Abnormal Vistech contrast sensitivity test",[],[32036]],[32112,"Abnormal Pelli Robson contrast sensitivity chart test",[],[32036]],[32113,"Semidominant inheritance",["Semidominant mode of inheritance"],[34345]],[32114,"Saccadic intrusion",[],[570]],[32116,"Macrosquare-wave jerks",[],[32114]],[32118,"Retinitis",[],[479]],[32120,"Abnormal peripheral nervous system physiology",[],[410008]],[32121,"Froment sign",["Froment thumb sign"],[32120]],[32122,"Very low visual acuity",[],[7663]],[32123,"Ultra-low vision",[],[7663]],[32124,"Abnormal unswitched memory B cell proportion",["Abnormal proportion of non-class-switched memory B cells","Abnormal proportion of unswitched memory B cells"],[30373]],[32125,"Increased unswitched memory B cell proportion",["Elevated proportion of unswitched memory B cells","Increased proportion of non-class-switched memory B cells","Increased proportion of unswitched memory B cells"],[32124]],[32126,"Decreased unswitched memory B cell proportion",["Decreased proportion of non-class-switched memory B cells","Decreased proportion of unswitched memory B cells","Reduced proportion of unswitched memory B cells"],[30374,32124]],[32127,"Abnormal plasmablast proportion",[],[25539]],[32128,"Increased plasmablast proportion",[],[32127]],[32129,"Decreased plasmablast proportion",[],[32127]],[32130,"Mycobacterium abscessus abscessus infection",[],[32260]],[32131,"Cervical dysplasia",["Uterine cervix dysplasia"],[12888]],[32132,"Decreased circulating total IgG concentration",["Decreased circulating total IgG"],[4315]],[32133,"Transient decreased circulating total IgG concentration",[],[32132]],[32134,"Chronic decreased circulating total IgG concentration",["Chronic decreased total IgG in blood"],[32132]],[32135,"Decreased circulating IgG subclass concentration",["Decreased IgG subclass level in blood","Decreased circulating IgG subclass level"],[4315]],[32136,"Decreased circulating IgG1 concentration",["Decreased IgG1 level in blood","Decreased circulating IgG1 level"],[32135]],[32137,"Decreased circulating IgG3 concentration",["Decreased IgG3 level in blood","Decreased circulating IgG3 level"],[32135]],[32138,"Decreased circulating IgG4 concentration",["Decreased IgG4 level in blood","Decreased circulating IgG4 level"],[32135]],[32139,"Decreased circulating isohemagglutinin concentration",["Decreased circulating isohemagglutinin level","Decreased natural antibody to blood group agents","Partial absence of isohemagglutinins"],[410292]],[32140,"Decreased specific antibody response to vaccination",[],[12475]],[32141,"Precordial pain",[],[100749]],[32142,"Fetor hepaticus",["Foetor hepaticus"],[100812]],[32143,"Burning mouth",[],[31815]],[32144,"Coffee ground vomitus",["Coffee grounds emesis","Coffee grounds vomiting"],[2239]],[32145,"Sural nerve atrophy",["Atrophy of sural nerve"],[45010]],[32146,"HbC hemoglobin",["Haemoglobin C","HbC haemoglobin","Hemoglobin C"],[11902]],[32147,"Erythromelalgia",[],[12531]],[32148,"Episodic pain",[],[12531]],[32149,"Breakthrough pain",[],[32148]],[32150,"Paroxysmal rectal pain",[],[32148,500005]],[32151,"Episodic eosinophilia",[],[1880]],[32152,"Keratosis pilaris",["Carpet tack sign","Chicken skin","Follicular keratosis","Follicular keratotic plug","Follicular plugging","Hyperkeratosis pilaris","Lichen pilaris"],[11121]],[32153,"Joint subluxation",[],[1367]],[32154,"Aphthous ulcer",["Canker sore"],[31446]],[32155,"Abdominal cramps",[],[2027]],[32156,"Skin detachment",["Detached skin","Epidermal detachment","Skin sloughing"],[11355]],[32157,"Recurrent genital herpes",[],[5353]],[32158,"Unusual infection by anatomical site",[],[32101]],[32159,"Fungal meningitis",[],[1287,20100]],[32160,"Cryptococcal meningitis",[],[32159]],[32161,"Coccidioidal meningitis",[],[32159]],[32162,"Unusual skin infection",[],[11123,32158]],[32163,"Unusual molluscum contagiosum",["Molluscum contagiosum","Unusual Molluscum contagiosum infection"],[34317,5210232]],[32164,"Increased circulating folate concentration",["Increased blood folate concentration","Increased circulating vitamin B9 concentration"],[40087]],[32165,"Placental mesenchymal dysplasia",[],[100767]],[32166,"Unusual gastrointestinal infection",["Unusual GI infection"],[12719,32158]],[32167,"Clostridium difficile enteritis",["C. difficile enteritis"],[32166]],[32168,"Clostridium difficile colitis",[],[32166]],[32169,"Severe infection",["Unusual course of infection"],[32101]],[32170,"Severe varicella zoster infection",["Disseminated herpes zoster","Severe herpes zoster","Severe zoster infection"],[31691,5210116]],[32171,"Bladder pain",[],[12531]],[32173,"Continuous diaphragm sign",[],[31983]],[32174,"Tree-in-bud pattern",[],[33775]],[32175,"Signet ring sign",[],[33775]],[32176,"Apical pulmonary opacity",["Apical cap","Apical pleural thickening"],[31983]],[32177,"Parenchymal consolidation",[],[31457]],[32178,"Flaky paint dermatosis",["Flaky paint skin appearance"],[40189]],[32179,"Abnormal circulating globulin concentration",["Abnormal circulating globulin level"],[10876]],[32180,"Abnormal circulating metabolite concentration",[],[1939]],[32181,"Anomalous hepatic venous drainage into the left atrium",[],[6707]],[32182,"Abnormal memory T cell proportion",["Abnormal proportion of CD4+CD29+ cells","Abnormal proportion of memory T cells"],[25540]],[32183,"Decreased memory T cell proportion",["Decreased proportion of CD4+CD29+ cells","Decreased proportion of memory T cells"],[32182]],[32184,"Increased memory T cell proportion",["Increased proportion of CD4+CD29+ cells","Increased proportion of memory T cells"],[32182]],[32185,"Disseminated molluscum contagiosum",["Disseminated molluscum"],[32163,33432]],[32186,"Anal neoplasm",[],[4378,7378]],[32187,"Anal intraepithelial neoplasia",[],[32186]],[32188,"Cellular hypersensitivity to mitomycin C",[],[3254]],[32189,"Cellular hypersensitivity to diepoxybutane",[],[3254]],[32190,"Abnormal meniscus morphology",[],[34669]],[32191,"Torn meniscus",[],[32190]],[32192,"Hydatidiform mole",[],[1194]],[32193,"Decreased low-density lipoprotein particle size",[],[3107]],[32195,"Abnormal S wave",[],[12249]],[32196,"Prominent S wave in lead I",[],[32195]],[32197,"Deep S wave in lead V5",[],[32195]],[32198,"Decreased prothrombin time",["Decreased INR","Decreased PT","Decreased international normalised ratio","Decreased international normalized ratio"],[32199]],[32199,"Abnormal prothrombin time",["Abnormal PT"],[12200]],[32200,"Perivascular fibrosis",[],[33353]],[32201,"Rotator cuff tear",[],[3043,100261]],[32202,"Vulvar intraepithelial neoplasia",[],[30416]],[32203,"Lymphoid nodular hyperplasia",["Lymphonodular hyperplasia of the colon"],[2250]],[32204,"Chronic active EBV infection",["Chronic active Epstein-Barr virus infection","Persistent Epstein-Barr virus infection","Recurrent Epstein-Barr virus infection"],[31035,5210286]],[32205,"Elevated circulating galectin-3 concentration",["Elevated galectin-3 concentration","Elevated galectin-3 level","Elevated galectin-3 level in blood","Increased galectin-3 concentration","Increased galectin-3 level","Increased galectin-3 level in blood"],[10876]],[32208,"Increased urinary type 1 collagen N-terminal telopeptide level",["Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine","Increased urine NTx level"],[33384]],[32209,"Abnormal circulating free T3 concentration",["Abnormal circulating free T3 level","Abnormal circulating free triiodotyronine concentration"],[31508]],[32210,"Decreased circulating free T3",["Decreased circulating free triiodothyronine"],[32209]],[32211,"Increased urinary epithelial cell count",[],[12614]],[32212,"Increased urinary squamous epithelial cell count",[],[32211]],[32213,"Increased urinary renal tubular epithelial cell count",[],[32211]],[32214,"Increased urinary transitional epithelial cell count",[],[32211]],[32215,"Disseminated cutaneous warts",[],[200043]],[32216,"Lymphocytic infiltration of the colorectal mucosa",[],[25090]],[32217,"Indurated nodule",[],[200036]],[32218,"Decreased total CD4+ T cell proportion",["Decreased helper T cell proportion","Decreased proportion circulating T-helper cells","Decreased proportion of CD4+ T cells","Decreased proportion of CD4+ cells","Decreased proportion of CD4-positive T cells","Decreased proportion of CD4-positive helper T cells","Decreased proportion of CD4-positive, alpha-beta T cells","Reduced helper T cell proportion","Reduced proportion of CD4-positive cells"],[5210415]],[32219,"Increased total CD4+ T cell proportion",["Elevated helper T cell proportion","Elevated proportion of CD4-positive T cells","Increased helper T cell proportion","Increased proportion of CD4+ T cells","Increased proportion of CD4-positive T cells","Increased proportion of CD4-positive, alpha-beta T cells"],[5210416]],[32220,"Interface hepatitis",[],[12115]],[32221,"Periportal emperipolesis",[],[30146]],[32222,"Serrated intestinal polyps",["Serrated polyposis"],[200008]],[32223,"Blood group",[],[1]],[32224,"ABO blood group",[],[32223]],[32225,"Perifollicular fibroma",[],[8069]],[32226,"Abnormal sebaceous gland morphology",[],[11138]],[32227,"Sebaceous hyperplasia",[],[32226]],[32228,"Trichodiscoma",[],[12842]],[32229,"Perinuclear antineutrophil antibody positivity",["p-ANCA positivity"],[3453]],[32230,"Cytoplasmic antineutrophil antibody positivity",["Anti-neutrophil cytoplasmic antibody positivity","C-ANCA antibodies","Cytoplasmic antineutrophil cytoplasmic antibodies"],[3453]],[32231,"Hypochromia",[],[1903]],[32232,"Elevated circulating CK-MB concentration",["Increased circulating CK MB isoform"],[40081]],[32233,"Elevated circulating creatine kinase BB isoform concentration",["Elevated creatine kinase B-type concentration","Elevated creatine kinase B-type level","Elevated creatine kinase B-type level in blood","Increased circulating CK BB isoform","Increased creatine kinase B-type concentration","Increased creatine kinase B-type level","Increased creatine kinase B-type level in blood"],[40081]],[32234,"Elevated circulating creatine kinase MM isoform concentration",["Elevated creatine kinase M-type concentration","Elevated creatine kinase M-type level","Elevated creatine kinase M-type level in blood","Increased circulating CK MM isoform","Increased creatine kinase M-type concentration","Increased creatine kinase M-type level","Increased creatine kinase M-type level in blood"],[40081]],[32235,"Anti-La/SS-B antibody positivity",[],[33476]],[32236,"Increased circulating immature neutrophil count",[],[32309]],[32237,"Increased circulating myelocyte count",[],[32236]],[32238,"Increased circulating metamyelocyte count",[],[32236]],[32239,"Increased circulating band cell count",["Increased circulating band form neutrophils","Left shift"],[32236]],[32240,"Elevated circulating E-selectin concentration",["Elevated E-selectin concentration","Elevated E-selectin level","Elevated E-selectin level in blood","Increased E-selectin concentration","Increased E-selectin level","Increased E-selectin level in blood"],[10876]],[32241,"Cervical neoplasm",[],[7379,12888]],[32242,"Cervical intraepithelial neoplasia",[],[32241]],[32243,"Abnormal tissue metabolite concentration",[],[1939]],[32244,"Decreased serum thromboxane B2",[],[30389]],[32245,"Abnormal metabolism",[],[1939]],[32247,"Persistent CMV viremia",["Chronic CMV viremia","Persistent CMV viraemia","Recurrent CMV viremia"],[32248,33432,5210146]],[32248,"Persistent viremia",[],[20071,32169]],[32249,"Coccidioidomycosis",["Valley fever"],[32255]],[32250,"Acinetobacter infection",[],[32260]],[32251,"Abnormal immune system morphology",[],[2715]],[32252,"Granuloma",[],[32251]],[32253,"Eosinophilic granuloma",[],[32252,5210338]],[32254,"Elevated circulating copper concentration",["Elevated copper cation concentration","Elevated copper cation level","Elevated copper cation level in blood","Elevated serum copper","Hypercupremia","Increased circulating copper concentration","Increased copper cation concentration","Increased copper cation level","Increased copper cation level in blood"],[10836]],[32255,"Opportunistic fungal infection",[],[20100,31690]],[32256,"Unusual Histoplasma capsulatum infection",["Histoplasmosis","Unusual histoplasmosis","Unusual progressive disseminated histoplasmosis","Unusual susceptibility to Histoplasma capsulatum"],[32255]],[32257,"Severe Histoplasma capsulatum infection",["Disseminated histoplasmosis","Invasive histoplasmosis","Progressive disseminated histoplasmosis","Severe histoplasmosis"],[32256]],[32258,"Pulmonary histoplasmosis",[],[32256]],[32259,"Chronic tinea infection",[],[31035]],[32260,"Opportunistic bacterial infection",[],[31690,5210000]],[32261,"Nontuberculous mycobacterial pulmonary infection",[],[32260]],[32262,"Pulmonary tuberculosis",["Pulmonary TB"],[32260]],[32263,"Increased blood pressure",["Increased BP"],[30972]],[32264,"Anti-NMDA receptor antibody positivity",["Presence of anti-N-methyl-D-aspartate Receptor antibody in blood","Presence of anti-NMDAR antibody in blood"],[30057]],[32265,"CSF autoimmune antibody positivity",["Cerebrospinal fluid autoimmune antibody positivity"],[2960]],[32266,"CSF anti-NMDA receptor antibody positivity",["Presence of NMDAR antibody in CSF","Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF","Presence of anti-NMDAR antibody in cerebrospinal fluid"],[32265]],[32267,"Empty delta sign",[],[10303]],[32268,"Dural tail sign",[],[10303]],[32269,"Lemon sign",[],[25662]],[32270,"Optic nerve tram-track sign",[],[587]],[32271,"Extrapulmonary tuberculosis",["Extrapulmonary TB"],[32260]],[32273,"Increased circulating N-acetylaspartic acid concentration",["Increased circulating N-acetyl aspartate level","Increased circulating N-acetyl aspartic acid level","Increased circulating N-acetyl-L-aspartic acid level","Increased circulating N-acetylaspartate level","Increased circulating NAA level"],[33108]],[32274,"Increased CSF N-acetylaspartic acid concentration",["Increased N-acetyl aspartate levels in CSF","Increased N-acetyl aspartic acid levels in CSF","Increased N-acetyl-L-aspartic acid levels in CSF","Increased N-acetylaspartate levels in CSF","Increased NAA levels in CSF"],[25454]],[32275,"Recurrent shingles",[],[5353]],[32276,"Prominent subcalcaneal fat pad",[],[1760]],[32277,"Lozenge-shaped umbilicus",[],[1551]],[32278,"2-hydroxyglutarate aciduria",[],[3215]],[32281,"Abnormal base excess",[],[4360]],[32282,"Contact dermatitis",[],[964]],[32283,"Disseminated non-tuberculous mycobacterial infection",["Disseminated NTM infection","Disseminated non-tuberculous mycobacteriosis","Disseminated nontuberculous mycobacterial infection","Severe non-tuberculosis mycobacteria infection"],[32260,5210115]],[32284,"Ultra-low vision with retained motion projection",[],[32123]],[32285,"Ultra-low vision with retained light projection",[],[32123]],[32286,"Ultra-low vision with retained light perception",[],[32123]],[32287,"Ultra-low vision with no light perception",[],[32123]],[32288,"Polyclonal elevation of circulating IgG concentration",["Polyclonal elevation of circulating IgG level"],[3237]],[32289,"Oligoclonal elevation of circulating IgG concentration",["Oligoclonal elevation of circulating IgG level"],[3237]],[32290,"Monoclonal elevation of circulating IgG concentration",["Monoclonal elevation of circulating IgG level"],[3237]],[32291,"Monoclonal elevation of circulating intact IgG concentration",["Monoclonal elevation of circulating intact IgG level"],[32290]],[32292,"Monoclonal elevation of circulating IgG light chain concentration",["Monoclonal elevation of circulating IgG light chain level"],[32290]],[32293,"Monoclonal elevation of circulating IgG heavy chain concentration",["Monoclonal elevation of circulating IgG heavy chain level"],[32290]],[32294,"Monoclonal elevation of IgG kappa chain",[],[32292]],[32295,"Monoclonal elevation of IgG lambda chain",[],[32292]],[32296,"Increased circulating IgG subclass concentration",[],[3237]],[32297,"Increased circulating IgG3 concentration",[],[32296]],[32298,"Increased circulating IgG1 concentration",[],[32296]],[32299,"Increased circulating IgG2 concentration",[],[32296]],[32300,"Increased circulating IgG4 concentration",[],[32296]],[32301,"Genital warts",[],[200043]],[32302,"Kappa Bence Jones proteinuria",[],[30156]],[32303,"Lambda Bence Jones proteinuria",[],[30156]],[32304,"Abnormal circulating mannose-binding protein concentration",[],[10876]],[32305,"Decreased circulating mannose-binding protein concentration",["Decreased mannose-binding protein level"],[32304]],[32306,"Elevated circulating mannose-binding protein concentration",["Increased mannose-binding protein level"],[32304]],[32308,"Increased circulating procalcitonin concentration",["Increased circulating procalcitonin level"],[100530]],[32309,"Abnormal granulocyte count",[],[1911,11893]],[32310,"Increased total granulocyte count",["Granulocytosis"],[32309]],[32311,"Elevated circulating globulin concentration",["Hyperglobulinemia"],[32179]],[32312,"Decreased circulating globulin concentration",[],[32179]],[32313,"Frontotemporal hypertrichosis",[],[2219]],[32314,"Abnormal areolar morphology",[],[31093]],[32315,"Areolar fullness",[],[32314]],[32316,"Family history",[],[32443]],[32317,"Family history of cancer",[],[32316]],[32318,"Family history of heart disease",[],[32316]],[32319,"Health status",[],[32316]],[32320,"Affected",[],[32319]],[32321,"Unaffected",[],[32319]],[32322,"Healthy",[],[32319]],[32323,"Periodic fever",[],[1954]],[32324,"Non-periodic recurrent fever",[],[1954]],[32325,"Lacunar stroke",[],[2140]],[32326,"Methicillin-resistant Staphylococcus aureus infection",["MRSA infection"],[32260]],[32327,"Interhemispheric cyst",[],[12703]],[32328,"Temporomandibular joint adhesion",[],[10754]],[32329,"Increased urinary 11-deoxycortisol level",[],[12029]],[32330,"Increased urinary 11-deoxycorticosterone level",[],[12029]],[32331,"Increased urinary 11-deoxytetrahydrocorticosterone level",[],[12029]],[32332,"Oligoclonal elevation of circulating IgM concentration",[],[3496]],[32333,"Polyclonal elevation of circulating IgA",[],[3261]],[32334,"Oligoclonal elevation of circulating IgA",[],[3261]],[32335,"Monoclonal elevation of circulating IgA",[],[3261]],[32336,"Increased circulating specific IgE antibody concentration",["Increased circulating specific IgE antibody"],[10701]],[32337,"Monoclonal elevated circulating IgE concentration",["Monoclonal elevation of circulating IgE"],[3212]],[32338,"Oligoclonal elevated circulating IgE concentration",["Oligoclonal elevation of circulating IgE"],[3212]],[32339,"Polyclonal elevated circulating IgE concentration",[],[3212]],[32341,"Reduced forced vital capacity",["Decreased forced vital capacity","Reduced FVC"],[30878]],[32342,"Reduced forced expiratory volume in one second",["Reduced FEV1"],[30878]],[32344,"Upslanting toenail",["Ski-jump toenail","Upturned toenail"],[8388]],[32345,"Elevated circulating CA19-9 concentration",["Elevated cancer Ag 19-9 level","Elevated circulating cancer antigen 19-9 concentration","Elevated circulating carbohydrate antigen 19-9 concentration","Elevated circulating sialylated Lewis a antigen concentration"],[11013]],[32346,"Cutaneous lichen amyloidosis",[],[12309]],[32347,"Cutaneous macular amyloidosis",["Macular amyloidosis"],[12309]],[32348,"Cutaneous nodular amyloidosis",[],[12309]],[32349,"Serinuria",[],[33099]],[32350,"Sulfocysteinuria",[],[33100]],[32351,"Phenylalaninuria",["Increased level of phenylalanine in urine"],[33090]],[32352,"Methioninuria",["Methionine high in urine"],[33095]],[32353,"Leucinuria",[],[33089]],[32355,"Decreased peak expiratory flow",[],[30878]],[32356,"Decreased pre-bronchodilator forced vital capacity",["Decreased pre bronchodilator forced vital capacity","Decreased prebronchodilator forced vital capacity"],[32341]],[32357,"Decreased post-bronchodilator forced vital capacity",["Decreased post bronchodilator forced vital capacity","Decreased postbronchodilator forced vital capacity"],[32341]],[32358,"Decreased post-bronchodilator forced expiratory volume in one second",["Decreased post bronchodilator forced expiratory volume in one second","Decreased postbronchodilator forced expiratory volume in one second"],[32342]],[32359,"Decreased forced expiratory flow 25-75%",["Decreased FEF25-75%"],[30878]],[32360,"Decreased pre-bronchodilator forced expiratory flow 25-75%",["Decreased pre bronchodilator forced expiratory flow 25-75%","Decreased pre-bronchodilator FEF25-75%","Decreased prebronchodilator forced expiratory flow 25-75%"],[32359]],[32361,"Decreased post-bronchodilator forced expiratory flow 25-75%",["Decreased post bronchodilator forced expiratory flow 25-75%","Decreased post-bronchodilator FEF25-75%","Decreased postbronchodilator forced expiratory flow 25-75%"],[32359]],[32362,"Increased circulating corticosterone level",[],[12112]],[32363,"Decreased circulating corticosterone level",[],[12112]],[32365,"Exacerbated by aspirin exposure",[],[4000176]],[32366,"Positive direct antiglobulin test",[],[6000388]],[32367,"Abnormal circulating growth hormone concentration",["Abnormal growth hormone level","Abnormal somatotropin level"],[3117]],[32368,"Acidemia",[],[4360]],[32369,"Alkalemia",[],[4360]],[32370,"Blood group A",[],[32224]],[32371,"Isoleucinuria",["Hyperisoleucinuria","Isoleucine high in urine"],[33089]],[32372,"Increased peripheral blast count",["Elevated blast count","Elevated circulating blasts","Increased peripheral myeloblast count"],[11893]],[32373,"Duffy blood group",[],[32223]],[32374,"Duffy Fya positivity",[],[32373]],[32375,"Duffy Fyb positivity",[],[32373]],[32376,"Anti-beta 2 glycoprotein I antibody positivity",["Anti-B2GPI positivity"],[30057]],[32377,"Increased urinary orosomucoid",["Increased urinary alpha-1-acid glycoprotein"],[20129]],[32378,"Immediate-type hypersensitivity drug reaction",[],[100326]],[32379,"Polymorphous light eruption",["Sun allergy"],[992]],[32381,"Hydroa vacciniforme",["Acute vesiculation and crusting and scarring following sun exposure"],[992]],[32382,"Uniparental disomy",["UPD"],[34335]],[32383,"Uniparental heterodisomy",[],[32382]],[32384,"Uniparental isodisomy",[],[32382]],[32385,"Abnormal circulating transferrin concentration",["Abnormal circulating transferrin level","Abnormal serotransferrin level"],[25465]],[32386,"Elevated circulating transferrin concentration",["Elevated serotransferrin concentration","Elevated serotransferrin level","Elevated serotransferrin level in blood","Elevated transferrin level","Increased serotransferrin concentration","Increased serotransferrin level","Increased serotransferrin level in blood"],[32385]],[32387,"Decreased circulating transferrin concentration",["Decreased serotransferrin concentration","Decreased serotransferrin level","Decreased serotransferrin level in blood","Reduced serotransferrin concentration","Reduced serotransferrin level","Reduced serotransferrin level in blood","Reduced transferrin level"],[32385]],[32388,"Periventricular nodular heterotopia",[],[7165]],[32389,"Periventricular laminar heterotopia",[],[7165]],[32390,"Periventricular ribbonlike heterotopia",[],[7165]],[32391,"Subcortical heterotopia",[],[2282]],[32392,"Nodular subcortical heterotopia in peritrigonal regions",[],[32391]],[32393,"Diffuse ribbon-like subcortical heterotopia",[],[32391]],[32394,"Mesial parasagittal subcortical heterotopia",[],[32391]],[32395,"Curvilinear subcortical heterotopia",["Giant heterotopia"],[32391]],[32396,"Transmantle columnar heterotopia",[],[32391]],[32397,"Citrullinuria",["Citrulline high in urine"],[33098]],[32398,"Dysgyria",[],[2536]],[32399,"Dysgyria with normal cortical thickness",[],[32398]],[32400,"Dysgyria with thickened cortex",[],[6891,32398]],[32401,"Aspartic aciduria",[],[33096]],[32403,"Asparaginuria",["Increased level of asparagine in urine","Increased urine asparagine level"],[33096]],[32404,"Testicular mass",[],[35]],[32405,"Increased urinary phosphoserine level",["Increased level of phosphoserine in urine"],[33097]],[32406,"Unilateral perisylvian polymicrogyria",[],[6927,12650]],[32407,"Bilateral perisylvian polymicrogyria",[],[12650,25646]],[32408,"Breast mass",["Breast lump"],[31093]],[32409,"Subcortical band heterotopia",[],[1339,32391]],[32410,"Bilateral generalized polymicrogyria",["Bilateral generalised polymicrogyria","Diffuse polymicrogyria"],[25646]],[32411,"Posterior predominant subcortical band heterotopia",["Occipital subcortical band heterotopia","Subcortical band heterotopia posterior predominant"],[32409]],[32412,"Anterior predominant subcortical band heterotopia",["Frontal subcortical band heterotopia","Subcortical band heterotopia anterior predominant"],[32409]],[32413,"Diffuse subcortical band heterotopia",["Subcortical band heterotopia diffuse"],[32409]],[32414,"Hydroxylysinuria",["Hydroxylysine high in urine"],[33098]],[32415,"Parasagittal parieto-occipital polymicrogyria",[],[2126]],[32416,"Retinal microaneurysm",[],[8046]],[32417,"Periglomerular fibrosis",["Periglomerular fibrotic thickening"],[31264]],[32418,"Abnormal HDL subfraction concentration",[],[31888]],[32419,"Abnormal HDL2a concentration",[],[32418]],[32420,"Increased HDL2a concentration",[],[32419]],[32421,"Decreased HDL2a concentration",[],[32419]],[32422,"Abnormal HDL2b concentration",[],[32418]],[32423,"Decreased HDL2b concentration",[],[32422]],[32424,"Increased HDL2b concentration",[],[32422]],[32425,"Abnormal HDL3a concentration",[],[32418]],[32426,"Abnormal HDL3b concentration",[],[32418]],[32427,"Abnormal HDL3c concentration",[],[32418]],[32428,"Increased HDL3a concentration",[],[32425]],[32429,"Decreased HDL3a concentration",[],[32425]],[32430,"Increased HDL3b concentration",[],[32426]],[32431,"Decreased HDL3b concentration",[],[32426]],[32432,"Increased HDL3c concentration",[],[32427]],[32433,"Decreased HDL3c concentration",[],[32427]],[32434,"Delayed umbilical cord separation",["Delayed separation of umbilical cord"],[10881]],[32435,"Neonatal omphalitis",["Omphalitis","Umbilical cord stump infection"],[10881]],[32436,"Abnormal circulating C-reactive protein concentration",["Abnormal C-reactive protein level"],[10876]],[32437,"Decreased circulating C-reactive protein concentration",["Decreased C-reactive protein concentration","Decreased C-reactive protein level","Decreased C-reactive protein level in blood","Reduced C-reactive protein concentration","Reduced C-reactive protein level","Reduced C-reactive protein level in blood"],[32436]],[32438,"Platelet anisocytosis",[],[11875]],[32439,"Airborn particle hypersensitivity",[],[100326]],[32440,"Blood group B",[],[32224]],[32441,"Blood group AB",[],[32224]],[32442,"Blood group O",[],[32224]],[32443,"Past medical history",[],[1]],[32444,"Status post organ transplantation",["s/p organ transplantation"],[430103]],[32445,"Pulmonary cyst",["Lung cyst"],[2088]],[32446,"Pulmonary bulla",["Pulmonary bullae"],[2097]],[32447,"Pulmonary bleb",[],[2097]],[32448,"Achlorhydria",[],[12719]],[32449,"Abnormal dermoepidermal hemidesmosome morphology",[],[31538]],[32450,"Positive blood arsenic test",[],[410172]],[32451,"Oral melanotic macule",["Melanotic macule of oral mucosa"],[100669]],[32452,"Oral melanoacanthoma",[],[100669]],[32453,"Abnormal lip pigmentation",[],[159]],[32454,"Labial melanotic macule",["Labial melanotic freckle"],[32453]],[32455,"Reduced granulocyte CD18 level",[],[31553]],[32456,"Unlayered lissencephaly",[],[1339]],[32457,"2-3-layered lissencephaly",[],[1339]],[32458,"Narrowing of medullary canal",["Medullary cavity obliteration","Narrowing of bone marrow canal","Narrowing of bone medullary canal","Narrowing of the marrow cavity"],[11842]],[32459,"Abnormal phosphoribosylpyrophosphate synthetase level",[],[12379]],[32460,"Decreased phosphoribosylpyrophosphate synthetase level",[],[32459]],[32462,"Increased circulating palmitate level",[],[3455]],[32463,"Reduced circulating fibronectin level",["Decreased plasma fibronectin"],[10876]],[32464,"Ureteral hypoplasia",["Hypoplasia of the ureter","Ureter hypoplasia"],[25633]],[32465,"Bladder trabeculation",["Trabecular bladder"],[25487]],[32466,"Aplasia of the olfactory bulb",["Aplastic olfactory bulb","Olfactory bulb aplasia"],[40327]],[32467,"Past obstetric history",["Maternal medical history"],[32443]],[32468,"History of stillbirth",[],[32467]],[32469,"Anti-asialoglycoprotein receptor antibody positivity",[],[30057]],[32470,"Monilethrix",[],[3328]],[32471,"Focal polymicrogyria",[],[2126]],[32472,"Abnormal urine urobilinogen level",[],[6000531]],[32473,"Decreased urine urobilinogen",[],[32472]],[32475,"6-layered lissencephaly",[],[1339]],[32476,"Abnormal circulating vitamin B6 concentration",["Abnormal circulating vitamin B6 level","Abnormal circulating pyridoxal 5'-phosphate concentration"],[4340]],[32477,"Elevated circulating vitamin B6 concentration",["Elevated circulating vitamin B6 level"],[32476]],[32478,"Lateral spinal meningocele",[],[2435]],[32479,"Preimplantation lethality",["Early embryonic arrest","Preimplantation embryonic lethality"],[33335]],[32480,"Beta-aminoisobutyric aciduria",[],[33098]],[32481,"Abnormal pituitary glycoprotein hormone alpha subunit level",[],[3117]],[32482,"Decreased pituitary glycoprotein hormone alpha subunit level",["Decreased pituitary glycoprotein alpha subunit level","Decreased pituitary glycoprotein polypeptide alpha subunit level"],[32481]],[32484,"Elevated fecal sodium",["Elevated faecal sodium"],[31685]],[32485,"Abnormal fecal osmolality",["Abnormal faecal osmolality"],[31685]],[32486,"Elevated fecal osmolality",["Elevated faecal osmolality"],[32485]],[32487,"Reduced fecal osmolality",["Reduced faecal osmolality"],[32485]],[32488,"Abnormal fecal pH",["Abnormal faecal pH"],[31685]],[32489,"Elevated fecal pH",["Elevated faecal pH","Stool pH high"],[32488]],[32490,"Decreased fecal pH",["Decreased faecal pH","Stool pH low"],[32488]],[32491,"Increased circulating argininosuccinic acid",[],[33109]],[32492,"Anti-myelin oligodendrocyte glycoprotein antibody positivity",["Anti-MOG antibody positivity"],[30057]],[32493,"Elevated circulating trypsinogen concentration",["Increased immunoreactive trypsinogen"],[10876]],[32495,"Abnormal terminal:vellus ratio",[],[10720]],[32496,"Elevated terminal:vellus ratio",[],[32495]],[32497,"Reduced terminal:vellus ratio",[],[32495]],[32499,"Giant neutrophil granules",[],[11992]],[32500,"Exacerbated by tobacco use",["Aggravated by tobacco use","Exacerbated by smoking","Smoking or tobacco use exacerbates symptoms"],[25285]],[32501,"Exacerbated by contraceptive medication exposure",["Contraceptive pills aggravate symptoms"],[4000176]],[32502,"Exacerbated by barbiturate exposure",["Barbiturates produce worsening"],[4000176]],[32503,"Ameliorated by ethanol ingestion",["Ethanol reduces manifestations"],[25254]],[32504,"Lhermitte's sign",["Barber chair phenomenon","Lhermitte's phenomenon"],[12638]],[32505,"Hydrophobia",[],[2015]],[32506,"Alien limb phenomenon",[],[4305]],[32507,"Labiomental fasciculations",["Fasciculations, labiomental"],[7089]],[32508,"Polyembolokoilamania",[],[5200065]],[32509,"Onychotillomania",[],[12170,5200065]],[32510,"Tendon pain",[],[12531]],[32511,"Superiorly positioned umbilicus",[],[1551]],[32513,"Four-vessel umbilical cord",[],[11403]],[32514,"Supernumerary lacrimal punctum",["Accessory puncta","Double lacrimal puncta","Double punctum","Lacrimal punctum, duplication","Punctum reduplication","Supernumerary punctum"],[11479]],[32515,"Deep dermatophytosis",[],[32516]],[32516,"Severe dermatophyte infection",["Disseminated dermatophyte infection","Invasive dermatophyte infection"],[5210375]],[32517,"Majocchi's granuloma",[],[32516]],[32518,"Disseminated dermatophytosis",[],[32516]],[32519,"Increased Burr cell count",[],[1877]],[32520,"Masseter muscular weakness",[],[31815]],[32521,"Self hugging",["Spasmodic upper-body squeeze"],[4000079,5200019]],[32522,"Ameliorated by immunosuppresion",["Immunosupressive therapy improves condition"],[34536]],[32523,"Tendon thickening",[],[100261]],[32524,"Long thumb",[],[1172]],[32525,"Exacerbated by acetylcholinesterase inhibitor exposure",[],[4000176]],[32526,"Ameliorated by acetylcholinesterase inhibitor",[],[34536]],[32527,"Inferiorly positioned umbilicus",["Low set umbilicus","Low-set umbilicus"],[1551]],[32528,"Elevated urinary 4-hydroxybutyric acid",[],[33303]],[32530,"Decreased tissue succinic semialdehyde dehydrogenase activity",["Decreased succinic semialdehyde dehydrogenase activity in cultured fibroblasts","Decreased succinic semialdehyde dehydrogenase leukocyte activity","Decreased succinic semialdehyde dehydrogenase level"],[6000231]],[32531,"Elevated CSF gamma-aminobutyric acid concentration",["Gamma-aminobutyric acid (GABA) high in CSF"],[500183]],[32532,"Elevated CSF 4-hydroxybutyric acid concentration",["Elevated CSF GHB levels","Elevated CSF gamma-hydroxybutyric acid"],[500183]],[32533,"Elevated circulating acetone concentration",[],[410175]],[32534,"Exacerbated by methylxanthine ingestion",["Methylxanthines produce worsening"],[25285]],[32535,"Cervical (neck)",[],[12838]],[32536,"Increased number of lymph nodes",[],[2733]],[32537,"Delayed fracture healing",[],[11843]],[32538,"Pretibial dimple",[],[10781]],[32539,"Joint extensor surface localization",[],[12838]],[32540,"Joint flexor surface localization",[],[12838]],[32541,"Knuckle pad",["DDN","Dorsal dupuytren nodules","Knuckle pads on dorsal aspect of finger joints"],[11356]],[32542,"Exacerbated by pregnancy",[],[25285]],[32543,"Lithoptysis",[],[32016]],[32544,"Predominant small joint localization",[],[12838]],[32545,"Abdominal rigidity",["Rigid abdomen"],[2027]],[32546,"Abdominal guarding",[],[2027]],[32547,"Low intraocular pressure",["Ocular hypotony"],[12632]],[32548,"Increased placental thickness",["Placental thickness increased"],[12767]],[32549,"Persistent asymmetrical tonic neck reflex",["Persistent fencer's reflex","Tonic neck reflex asymmetrical and persistent"],[2476]],[32550,"Howell-Jolly bodies",[],[20080]],[32551,"Hemorrhoids",["Haemorrhoids","Piles"],[2034]],[32552,"Abnormal pulse",[],[25323]],[32553,"Weak pulse",[],[32552]],[32554,"Absent pulse",[],[32552]],[32555,"Bounding pulse",[],[32552]],[32556,"Circumoral cyanosis",["Bluish around mouth"],[34031]],[32557,"History of bone marrow transplant",["Status post haematopoietic stem cell transplantation","Status post hematopoietic stem cell transplantation"],[430103]],[32558,"Absent sperm flagella",[],[12868]],[32559,"Short sperm flagella",[],[12868]],[32560,"Coiled sperm flagella",[],[12868]],[32561,"Microcephalic sperm head",["Small-head sperm"],[12865]],[32562,"Tapered sperm head",[],[12865]],[32563,"Dacryocytosis",["Dacryocytes","Tear-drop shaped erythrocytes"],[4447]],[32564,"Ileitis",["Inflammation of the ileum"],[1549]],[32565,"Vaginal mucosal ulceration",[],[142]],[32566,"Oval macrocytosis",[],[4447]],[32567,"Lipiduria",["Urinary lipid excretion"],[33354]],[32568,"Urinary mulberry cells",[],[12614]],[32569,"Temporal bossing",[],[9911]],[32570,"Pontine ischemic lacunes",["Pontine ischaemic lacunes"],[7361,32325]],[32571,"Increased oocyte death",[],[11017]],[32572,"Abnormal urinary nucleobase concentration",[],[33354]],[32573,"Elevated urinary cytidine",[],[33162]],[32574,"Elevated urinary uridine level",["Elevated uridine in urine"],[33162]],[32575,"Decreased circulating 12-HETE",["Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration"],[11022]],[32576,"Intracellular accumulation of Dol-PP-GlcNAc2Man5",[],[11017]],[32577,"Clonal T cell receptor rearrangement",[],[25845]],[32578,"Third ventricle colloid cyst",[],[10576,10951]],[32579,"Vascular hamartoma",[],[10566]],[32580,"Abnormal bulbus cordis morphology",[],[1627]],[32581,"Abnormal renal interstitial morphology",[],[12210]],[32582,"Renal interstitial foam cells",[],[3651,32581]],[32583,"Renal glomerular foam cells",[],[95,3651]],[32584,"Renal interstitial neutrophil infiltration",[],[32581]],[32585,"Renal interstitial eosinophil infiltration",[],[32581]],[32586,"Renal interstitial plasma cell infiltration",[],[32581]],[32587,"Renal interstitial calcium oxalate",[],[8672,32581]],[32588,"Hand apraxia",["Lack of purposeful hand use"],[2186]],[32589,"Renal lymphocytic tubulitis",[],[91]],[32590,"Renal neutrophilic tubulitis",[],[91]],[32591,"Renal interstitial hemosiderin",[],[32644]],[32592,"Aplasia of the right hemidiaphragm",["Right diaphragmatic hernia"],[776,40047]],[32593,"Myoglobin casts",[],[31199]],[32594,"Renal tubular basement membrane denudation",["Denuded tubular basement membrane"],[20131]],[32595,"Renal tubular epithelial cell detachment",[],[32599]],[32596,"Renal tubular epithelial cell cytoplasmic vacuolization",[],[32599]],[32597,"Renal tubular epithelial cell sloughing",[],[32599]],[32598,"Blebbing of apical cytoplasm of renal tubular epithelial cells",[],[32599]],[32599,"Abnormal renal tubular epithelial morphology",[],[91]],[32600,"Renal tubular epithelial cell hyaline droplets",[],[32599]],[32601,"Multinucleation of renal tubular epithelial cells",[],[32599]],[32602,"Prominent nucleoli of renal tubular epithelial cells",[],[32599]],[32603,"Renal tubular epithelial cell simplification",[],[32599]],[32604,"Renal tubular epithelial cell mitosis",[],[32599]],[32605,"High renal tubular epithelial cell N/C ratio",["High N/C ratio of renal tubular epithelial cells"],[32599]],[32606,"Renal tubular epithelial lipofuscin",[],[32599]],[32607,"Renal tubular epithelial cell swelling",[],[32599]],[32608,"Thyroidization-type tubular atrophy",[],[92]],[32609,"Endocrine-type tubular atrophy",["Endocrinization pattern of tubular atrophy","Renal tubular atrophy, endocrine-type"],[92]],[32610,"Tubulointerstitial mycobacterial infiltration",["Renal tubulointerstitial mycobacterial organisms"],[32635]],[32611,"Renal tubular epithelial cell hemosiderin",[],[32599]],[32612,"Triphalangeal hallux",[],[10057]],[32613,"Renal interstitial amyloid deposits",["Renal interstitial amyloid","Renal interstitial amyloid deposition","Renal interstitial amyloidosis"],[1917,32644]],[32614,"Renal glomerular amyloid deposition",[],[1917]],[32615,"Abnormal diffusion weighted cerebral MRI morphology",["Diffusion weighted imaging (DWI) abnormality","Diffusion weighted magnetic resonance imaging (DWI) abnormality","MRI diffusion abnormality of the cerebrum"],[2060]],[32616,"Renal interstitial immunoglobulin deposits",["Renal interstitial immunoglobulin deposition"],[32644]],[32617,"Renal interstitial hemorrhage",["Renal interstitial haemorrhage"],[32581]],[32618,"Renal necrosis",["Renal parenchymal necrosis"],[12210]],[32619,"Perinephric abscess",[],[12210]],[32620,"Intrarenal abscess",["Renal abscess","Renal parenchymal abscess"],[12210]],[32621,"Hyperchromasia of renal tubular epithelial cells",["Condensed chromatin of renal tubular epithelial cells"],[32599]],[32622,"Tubular luminal dilatation",["Tubular ectasia"],[32950]],[32623,"Renal intratubular casts",["Tubular casts"],[91]],[32624,"Intratubular bilirubin casts",[],[32623]],[32625,"Intratubular erythrocyte cast",[],[32623]],[32626,"Intratubular vancomycin casts",[],[32623]],[32627,"Intratubular leukocyte casts",[],[32623]],[32628,"Renal intratubular crystals",[],[91]],[32629,"Intratubular dihydroxyadenuria crystals",[],[32628]],[32630,"Intratubular light-chain casts",[],[32623]],[32631,"Intratubular hemoglobin casts",["Intratubular haemoglobin casts"],[32623]],[32632,"Renal papillary necrosis",[],[32618]],[32633,"Intratubular hyaline casts",["Intratubular Tamm-Horsfall (uromodulin) casts"],[32623]],[32634,"Intratubular myoglobin cast",[],[32623]],[32635,"Tubulointerstitial microganismal infiltration",[],[1969]],[32636,"Tubulointerstitial viral infiltration",["Renal tubulointerstitial viral inclusions"],[1969]],[32637,"Renal interstitial edema",["Renal interstitial oedema"],[32581]],[32638,"Elevated urine mevalonic acid level",["Elevated urine mevalonate","Elevated urine mevalonate levels","Elevated urine mevalonic acid","Mevalonate aciduria"],[40156]],[32639,"Elevated leukocyte cystine",[],[3358]],[32640,"Elevated circulating CCL18 concentration",["Elevated C-C motif chemokine 18 concentration","Elevated C-C motif chemokine 18 level","Elevated C-C motif chemokine 18 level in blood","Increased C-C motif chemokine 18 concentration","Increased C-C motif chemokine 18 level","Increased C-C motif chemokine 18 level in blood","Increased C-C motif chemokine ligand 18 concentration"],[10876]],[32641,"Renal interstitial granulomas",["Renal interstitial granulomata"],[32581]],[32642,"Renal interstitial necrotizing granulomas",["Renal interstitial necrotizing granulomata"],[32641]],[32643,"Renal interstitial non-necrotizing granulomas",["Renal interstitial non-necrotizing granulomata"],[32641]],[32644,"Renal interstitial deposits",[],[32581]],[32645,"Renal interstitial mononuclear cell infiltration",[],[32581]],[32646,"Renal interstitial xanthogranulomatous inflammation",[],[32581]],[32647,"Renal tubular epithelial cell apoptosis",[],[32599]],[32648,"Tubularization of Bowman capsule",[],[31264]],[32649,"Skewfoot",["Skew foot","Skew-foot"],[1763]],[32650,"Elevated CSF glial fibrillary acidic protein concentration",["Elevated CSF glial fibrillary acidic protein level"],[25456]],[32651,"Elevated CSF chitinase-3-like protein 1 concentration",["Elevated CSF chitinase-3-like protein 1 level"],[25456]],[32652,"Elevated CSF chitotriosidase 1 concentration",["Elevated CSF chitotriosidase 1 level"],[25456]],[32653,"Elevated lactate:pyruvate ratio",[],[4360]],[32654,"Impaired flow-mediated arterial dilatation",["Endothelial dysfunction"],[25323]],[32655,"Decreased adipose tissue tocopherol level",[],[32243]],[32656,"Febrile status epilepticus",["Fever-induced status epilepticus"],[2133,11172]],[32657,"Elevated circulating globotriaosyl lysosphingolipid concentration",["Elevated Lyso-GL3 concentration","Elevated circulating lyso-globotriaosylsphingosine concentration","Increased Lyso-Gb3 concentration"],[3119]],[32658,"Status epilepticus with prominent motor symptoms",[],[2133]],[32659,"Non-convulsive status epilepticus with coma",["Subtle status epilepticus"],[31475]],[32660,"Convulsive status epilepticus",["Tonic-clonic status epilepticus"],[2069,32658]],[32661,"Generalized convulsive status epilepticus",["Generalised convulsive status epilepticus"],[25190,32660]],[32662,"Focal-onset seizure evolving into bilateral convulsive status epilepticus",["Focal onset seizure evolving into bilateral convulsive status epilepticus","Focal-onset seizure evolving into generalised convulsive status epilepticus","Focal-onset seizure evolving into generalized convulsive status epilepticus","Partial onset seizure evolving into convulsive status epilepticus","Partial-onset seizure evolving into convulsive status epilepticus","Secondarily generalised convulsive status epilepticus","Secondarily generalised tonic-clonic status epilepticus","Secondarily generalized convulsive status epilepticus","Secondarily generalized tonic-clonic status epilepticus"],[7334,32660]],[32663,"Focal motor status epilepticus",[],[32658]],[32664,"Adversive status epilepticus",[],[32663]],[32665,"Repeated focal motor seizures",["Jacksonian status epilepticus"],[32663]],[32666,"Hyperkinetic status epilepticus",[],[32658]],[32667,"Myoclonic status epilepticus",[],[32658]],[32668,"Myoclonic status epilepticus without coma",[],[32667]],[32669,"Myoclonic status epilepticus with coma",[],[32667]],[32670,"Tonic status epilepticus",[],[32658]],[32671,"Non-convulsive status epilepticus without coma",[],[31475]],[32672,"Autonomic status epilepticus",[],[32671]],[32673,"Focal non-convulsive status epilepticus without coma",[],[32671]],[32674,"Cutaneous wound",["Skin wound"],[11121]],[32675,"Acute cutaneous wound",[],[32674]],[32676,"Chronic cutaneous wound",["Chronic nonhealing cutaneous wound"],[32674]],[32677,"Generalized-onset motor seizure",["Generalised onset motor seizure","Generalised-onset motor seizure","Generalized onset motor seizure"],[2197,20219]],[32678,"Eyelid myoclonia seizure",[],[2123]],[32679,"Focal non-motor seizure",["Focal seizure without motor onset","Partial seizure without motor onset"],[7359,33259]],[32680,"Focal cognitive seizure",["Cognitive aura","Cognitive seizure","Partial cognitive seizure"],[32679]],[32681,"Focal aware cognitive seizure",[],[32680,32682]],[32682,"Focal aware non-motor seizure",["Focal non-motor aware seizure"],[2349,32679]],[32684,"Focal aware cognitive seizure with auditory agnosia",[],[32681,32685]],[32685,"Focal cognitive seizure with auditory agnosia",[],[32680]],[32686,"Focal aware cognitive seizure with memory impairment",[],[32681,32687]],[32687,"Focal cognitive seizure with memory impairment",["Amnestic aura","Amnestic seizure"],[32680]],[32688,"Focal aware cognitive seizure with dissociation",[],[32681,32689]],[32689,"Focal cognitive seizure with dissociation",[],[32680]],[32690,"Focal aware cognitive seizure with dyscalculia/acalculia",[],[32681,32691]],[32691,"Focal cognitive seizure with dyscalculia/acalculia",[],[32680]],[32692,"Focal cognitive seizure with forced thinking",[],[32680,33347]],[32693,"Focal cognitive seizure with neglect",[],[32680]],[32694,"Focal cognitive seizure with dyslexia/alexia",[],[32680]],[32696,"Focal cognitive seizure with receptive dysphasia/aphasia",[],[32680]],[32698,"Focal cognitive seizure with conduction dysphasia/aphasia",[],[32680]],[32699,"Focal cognitive seizure with dysgraphia/agraphia",[],[32680]],[32700,"Focal cognitive seizure with left-right confusion",[],[32680]],[32701,"Focal cognitive seizure with anomia",[],[32680]],[32702,"Focal cognitive seizure with expressive dysphasia/aphasia",[],[32680]],[32704,"Focal aware cognitive seizure with illusion",[],[12008,32681]],[32705,"Focal aware cognitive seizure with forced thinking",[],[32681,32692]],[32706,"Focal aware cognitive seizure with left-right confusion",[],[32681,32700]],[32707,"Focal aware cognitive seizure with dyslexia/alexia",[],[32681,32694]],[32708,"Focal aware cognitive seizure with anomia",[],[32681,32701]],[32709,"Focal aware cognitive seizure with dysgraphia/agraphia",[],[32681,32699]],[32710,"Focal aware cognitive seizure with receptive dysphasia/aphasia",[],[32681,32696]],[32711,"Focal aware clonic seizure",[],[2266,20217]],[32712,"Focal impaired awareness motor seizure",["Focal motor impaired awareness seizure"],[2384,11153]],[32713,"Focal impaired awareness motor seizure with version",["Focal motor impaired awareness seizure with version"],[11175,32712]],[32714,"Focal impaired awareness bilateral motor seizure",[],[32712,32715]],[32715,"Focal bilateral motor seizure",[],[11153]],[32716,"Focal impaired awareness non-motor seizure",["Focal non-motor impaired awareness seizure"],[2384,32679]],[32717,"Focal impaired awareness motor seizure with dystonia",["Focal motor impaired awareness seizure with dystonia"],[32712,32718]],[32718,"Focal motor seizure with dystonia",[],[11153]],[32719,"Focal impaired awareness motor seizure with dysarthria/anarthria",["Focal motor impaired awareness seizure with dysarthria/anarthria"],[32712,32720]],[32720,"Focal motor seizure with dysarthria/anarthria",[],[11153]],[32721,"Focal motor seizure with paresis/paralysis",[],[11153]],[32722,"Focal aware tonic seizure",[],[11167,20217]],[32723,"Focal aware motor seizure with dystonia",["Focal motor aware seizure with dystonia"],[20217,32718]],[32724,"Focal impaired awareness tonic seizure",[],[11167,32712]],[32725,"Focal impaired awareness clonic seizure",[],[2266,32712]],[32726,"Focal impaired awareness hyperkinetic seizure",[],[11174,32712]],[32727,"Focal emotional seizure with agitation",[],[25613]],[32728,"Focal impaired awareness atonic seizure",[],[20220,32712]],[32729,"Focal emotional seizure with pleasure",[],[25613]],[32730,"Focal impaired awareness myoclonic seizure",[],[11166,32712]],[32731,"Focal aware hyperkinetic seizure",[],[11174,20217]],[32732,"Focal aware motor seizure with paresis/paralysis",["Focal motor aware seizure with paresis/paralysis"],[20217,32721]],[32733,"Focal aware motor seizure with dysarthria/anarthria",["Focal motor aware seizure with dysarthria/anarthria"],[20217,32720]],[32734,"Focal aware emotional seizure",[],[25613,32682]],[32735,"Focal aware emotional seizure with anger",[],[32734,32736]],[32736,"Focal emotional seizure with anger",[],[25613]],[32737,"Focal emotional seizure with paranoia",[],[25613]],[32738,"Focal aware emotional seizure with fear/anxiety/panic",[],[32734,32739]],[32739,"Focal emotional seizure with fear/anxiety/panic",[],[25613]],[32740,"Focal aware autonomic seizure",["Focal autonomic seizures without altered responsiveness","Localised autonomic seizures without altered responsiveness","Localized autonomic seizures without altered responsiveness","Partial autonomic seizures without altered responsiveness"],[11154,32682]],[32741,"Focal aware emotional seizure with paranoia",[],[32734,32737]],[32742,"Focal aware emotional seizure with pleasure",[],[32729,32734]],[32743,"Focal aware emotional seizure with crying",[],[10820,32734]],[32744,"Focal aware emotional seizure with agitation",[],[32727,32734]],[32745,"Focal aware emotional seizure with laughing",[],[10821,32734]],[32746,"Focal impaired awareness emotional seizure",[],[25613,32716]],[32747,"Focal impaired awareness emotional seizure with pleasure",[],[32729,32746]],[32748,"Focal impaired awareness emotional seizure with anger",[],[32736,32746]],[32749,"Focal impaired awareness emotional seizure with paranoia",[],[32737,32746]],[32750,"Focal impaired awareness emotional seizure with laughing",[],[10821,32746]],[32751,"Focal impaired awareness emotional seizure with crying",[],[10820,32746]],[32752,"Focal impaired awareness emotional seizure with fear/anxiety/panic",[],[32739,32746]],[32753,"Focal impaired awareness emotional seizure with agitation",[],[32727,32746]],[32754,"Focal aware sensory seizure",[],[11157,32682]],[32755,"Focal impaired awareness autonomic seizure",["Focal autonomic seizure with altered responsiveness","Localised autonomic seizure with altered responsiveness","Localized autonomic seizure with altered responsiveness","Partial autonomic seizure with altered responsiveness"],[11154,32716]],[32756,"Focal impaired awareness cognitive seizure",[],[32680,32716]],[32757,"Focal aware hemiclonic seizure",[],[6813,32711]],[32758,"Focal aware myoclonic seizure",[],[11166,20217]],[32759,"Focal sensory seizure with vestibular features",["Focal vestibular seizure","Partial vestibular seizure","Vestibular aura"],[11157]],[32760,"Focal sensory seizure with hot-cold sensations",[],[11157]],[32761,"Focal aware autonomic seizure with pallor/flushing",[],[32740,32762]],[32762,"Focal autonomic seizure with pallor/flushing",[],[11154]],[32763,"Focal autonomic seizure with pupillary dilation/constriction",[],[11154]],[32764,"Focal autonomic seizure with erection",[],[11154]],[32765,"Focal autonomic seizure with urge to urinate/defecate",[],[11154]],[32766,"Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration",[],[11154]],[32767,"Focal autonomic seizure with piloerection",[],[11154]],[32768,"Focal aware autonomic seizure with pupillary dilation/constriction",[],[32740,32763]],[32769,"Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration",[],[32740,32766]],[32770,"Focal aware autonomic seizure with erection",[],[32740,32764]],[32771,"Focal autonomic seizure with lacrimation",[],[11154]],[32772,"Focal impaired awareness autonomic seizure with piloerection",[],[32755,32767]],[32773,"Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole",[],[11154]],[32774,"Focal impaired awareness autonomic seizure with urge to urinate/defecate",[],[32755,32765]],[32775,"Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration",[],[32755,32766]],[32776,"Focal aware autonomic seizure with lacrimation",[],[32740,32771]],[32777,"Focal impaired awareness autonomic seizure with pallor/flushing",[],[32755,32762]],[32778,"Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena",[],[11159,32755]],[32779,"Focal impaired awareness autonomic seizure with pupillary dilation/constriction",[],[32755,32763]],[32780,"Focal impaired awareness autonomic seizure with erection",[],[32755,32764]],[32781,"Focal aware autonomic seizure with urge to urinate/defecate",[],[32740,32765]],[32782,"Focal impaired awareness autonomic seizure with lacrimation",[],[32755,32771]],[32783,"Focal aware autonomic seizure with piloerection",[],[32740,32767]],[32784,"Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole",[],[32740,32773]],[32785,"Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena",[],[11159,32740]],[32786,"Migrating focal seizure",["Migrating partial seizure"],[7359]],[32787,"Focal impaired awareness sensory seizure",[],[11157,32716]],[32788,"Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole",[],[32755,32773]],[32789,"Focal aware behavior arrest seizure",["Focal aware behaviour arrest seizure"],[11173,32682]],[32790,"Focal impaired awareness behavior arrest seizure",["Focal impaired awareness behaviour arrest seizure"],[11173,32716]],[32791,"Focal impaired awareness cognitive seizure with anomia",[],[32701,32756]],[32792,"Tonic seizure",[],[20219]],[32793,"Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia",[],[32696,32756]],[32794,"Myoclonic seizure",[],[20219]],[32795,"Generalized myoclonic-tonic-clonic seizure",["Generalised myoclonic-tonic-clonic seizure","Generalised-onset myoclonic-tonic-clonic seizure","Generalized-onset myoclonic-tonic-clonic seizure","generalised onset myoclonic-tonic-clonic seizure","generalized onset myoclonic-tonic-clonic seizure"],[32677]],[32796,"Focal impaired awareness cognitive seizure with left-right confusion",[],[32700,32756]],[32797,"Focal aware sensory seizure with olfactory features",[],[11161,32754]],[32798,"Focal impaired awareness cognitive seizure with neglect",[],[32693,32756]],[32799,"Focal impaired awareness hemiclonic seizure",[],[6813,32725]],[32800,"Focal aware sensory seizure with vestibular features",[],[32754,32759]],[32801,"Focal impaired awareness cognitive seizure with memory impairment",[],[32687,32756]],[32802,"Focal impaired awareness cognitive seizure with dyscalculia/acalculia",[],[32691,32756]],[32803,"Focal impaired awareness cognitive seizure with dysgraphia/agraphia",[],[32699,32756]],[32804,"Focal impaired awareness sensory seizure with olfactory features",[],[11161,32787]],[32805,"Focal impaired awareness sensory seizure with vestibular features",[],[32759,32787]],[32806,"Focal impaired awareness sensory seizure with visual features",[],[11165,32787]],[32807,"Neonatal seizure",[],[1250]],[32808,"Neonatal seizure with electrographic correlate",[],[32807]],[32809,"Neonatal electro-clinical seizure",[],[32808]],[32810,"Focal sensory seizure with cephalic sensation",["Cephalic aura","Focal seizure with cephalic sensation","Partial seizure with cephalic sensation"],[11157]],[32811,"Neonatal electrographic only seizure",[],[32808]],[32812,"Neonatal electro-clinical non-motor seizure",[],[32809]],[32813,"Neonatal electro-clinical motor seizure",[],[32809]],[32814,"Neonatal electro-clinical clonic seizure",["Neonatal electroclinical clonic seizure"],[32813]],[32815,"Neonatal electro-clinical myoclonic seizure",["Neonatal electroclinical myoclonic seizure"],[32813]],[32816,"Neonatal multifocal myoclonic seizure",[],[32815]],[32817,"Neonatal focal myoclonic seizure",[],[32815]],[32818,"Neonatal focal clonic seizure",[],[32814]],[32819,"Neonatal bilateral clonic seizure",[],[32814]],[32820,"Neonatal multifocal clonic seizure",[],[32814]],[32821,"Neonatal electro-clinical tonic seizure",[],[32813]],[32822,"Neonatal electro-clinical autonomic seizure",[],[32812]],[32823,"Neonatal electro-clinical seizure with behavior arrest",["Neonatal electro-clinical seizure with behaviour arrest","Neonatal electroclinical seizure with behavioral arrest","Neonatal electroclinical seizure with behavioural arrest"],[32812]],[32824,"Neonatal focal tonic seizure",[],[32821]],[32825,"Neonatal electro-clinical sequential seizure",["Neonatal electroclinical sequential seizure"],[32809]],[32826,"Focal neonatal sequential seizure",[],[32825]],[32827,"Multifocal neonatal sequential seizure",[],[32825]],[32828,"Neonatal bilateral symmetric tonic seizure",[],[32821]],[32829,"Neonatal electro-clinical motor seizure with automatism",["Neonatal electroclinical motor seizure with automatism"],[32813]],[32830,"Neonatal seizure with bilateral asymmetric automatism",[],[32829]],[32831,"Neonatal bilateral asymmetric tonic seizure",[],[32821]],[32832,"Neonatal bilateral asymmetric myoclonic seizure",[],[32815]],[32833,"Neonatal epileptic spasm",[],[32813]],[32834,"Neonatal seizure with unilateral automatism",[],[32829]],[32835,"Neonatal seizure with bilateral symmetric automatism",[],[32829]],[32836,"Neonatal bilateral symmetric myoclonic seizure",[],[32815]],[32837,"Bilateral asymmetric neonatal sequential seizure",[],[32825]],[32838,"Neonatal unilateral epileptic spasm",[],[32833]],[32839,"Bilateral symmetric neonatal sequential seizure",[],[32825]],[32840,"Neonatal bilateral symmetric epileptic spasm",[],[32833]],[32841,"Neonatal bilateral asymmetric epileptic spasm",[],[32833]],[32842,"Generalized-onset epileptic spasm",["Generalised onset epileptic spasm","Generalised-onset epileptic spasm","Generalized onset epileptic spasm"],[11097,32677]],[32843,"Focal-onset epileptic spasm",["Focal onset epileptic spasm"],[11097,11153]],[32844,"Focal impaired awareness epileptic spasm",[],[32712,32843]],[32845,"Focal aware epileptic spasm",[],[20217,32843]],[32846,"Focal motor seizure with negative myoclonus",[],[11153]],[32847,"Focal impaired awareness hemifacial clonic seizure",[],[7332,32725]],[32848,"Focal aware cognitive seizure with neglect",[],[32681,32693]],[32849,"Aphasic status epilepticus",[],[32673]],[32850,"Focal aware cognitive seizure with expressive dysphasia/aphasia",[],[32681,32702]],[32851,"Focal aware sensory seizure with visual features",[],[11165,32754]],[32852,"Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia",[],[32698,32756]],[32853,"Focal impaired awareness sensory seizure with hot-cold sensations",[],[32760,32787]],[32854,"Focal aware hemifacial clonic seizure",[],[7332,32711]],[32855,"Photosensitive myoclonic-tonic-clonic seizure",["Photically induced myoclonic-tonic-clonic seizure"],[20216,32795]],[32856,"Focal aware bilateral motor seizure",[],[20217,32715]],[32857,"Focal aware motor seizure with negative myoclonus",["Focal motor aware seizure with negative myoclonus"],[20217,32846]],[32858,"Focal impaired awareness motor seizure with negative myoclonus",["Focal motor impaired awareness seizure with negative myoclonus"],[32712,32846]],[32859,"Focal impaired awareness motor seizure with paresis/paralysis",["Focal motor impaired awareness seizure with paresis/paralysis"],[32712,32721]],[32860,"Generalized non-convulsive status epilepticus without coma",["Absence status epilepticus","Generalised non-convulsive status epilepticus without coma","Petit mal status epilepticus"],[32671]],[32861,"Focal non-convulsive status epilepticus with impairment of consciousness",["Focal non-convulsive status epilepticus with impairment of awareness"],[32673]],[32862,"Status epilepticus with ictal paresis",["Focal inhibitory status epilepticus"],[32663]],[32863,"Typical absence status epilepticus",["Simple absence status epilepticus"],[32860]],[32864,"Focal aware sensory seizure with auditory features",[],[11158,32754]],[32865,"Myoclonic absence status epilepticus",[],[32860]],[32866,"Oculoclonic status epilepticus",[],[32663]],[32867,"Refractory status epilepticus",[],[2133]],[32868,"Super-refractory status epilepticus",[],[32867]],[32869,"Focal non-convulsive status epilepticus without impairment of consciousness",["Aura continua","Focal non-convulsive status epilepticus with retained awareness","Focal non-convulsive status epilepticus without impairment of awareness"],[32673]],[32870,"Focal impaired awareness cognitive seizure with dyslexia/alexia",[],[32694,32756]],[32871,"Focal aware cognitive seizure with hallucination",[],[12007,32681]],[32872,"Focal impaired awareness cognitive seizure with illusion",[],[12008,32756]],[32873,"Focal aware sensory seizure with cephalic sensation",[],[32754,32810]],[32874,"Focal impaired awareness cognitive seizure with auditory agnosia",[],[32685,32756]],[32876,"Focal aware cognitive seizure with conduction dysphasia/aphasia",[],[32681,32698]],[32877,"Focal aware sensory seizure with hot-cold sensations",[],[32754,32760]],[32878,"Focal impaired awareness sensory seizure with cephalic sensation",[],[32787,32810]],[32879,"Focal impaired awareness seizure with dissociation at onset",[],[32689,32756]],[32880,"Focal impaired awareness sensory seizure with auditory features",[],[11158,32787]],[32882,"Focal impaired awareness cognitive seizure with deja vu/jamais vu",[],[12004,32756]],[32883,"Focal aware cognitive seizure with deja vu/jamais vu",[],[12004,32681]],[32884,"Focal aware sensory seizure with somatosensory features",[],[11163,32754]],[32885,"Focal impaired awareness cognitive seizure with hallucination",[],[12007,32756]],[32886,"Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia",[],[32702,32756]],[32887,"Generalized atonic seizure",["Generalised atonic seizure"],[10819,32677]],[32888,"Focal impaired awareness cognitive seizure with forced thinking",[],[32692,32756]],[32889,"Focal aware sensory seizure with gustatory features",[],[11160,32754]],[32890,"Focal impaired awareness sensory seizure with somatosensory features",[],[11163,32787]],[32891,"Focal aware motor seizure with version",["Focal motor aware seizure with version"],[11175,20217]],[32892,"Infection-related seizure",[],[1250]],[32893,"Gastroenteritis-related afebrile seizure",[],[32892]],[32894,"Seizure precipitated by febrile infection",["Fever induced seizure"],[32892]],[32895,"Febrile seizure outside the age of 3 months to 6 years",[],[32894]],[32896,"Music-induced seizure",[],[20207]],[32897,"Focal impaired awareness sensory seizure with gustatory features",[],[11160,32787]],[32898,"Focal automatism seizure",[],[11153]],[32899,"Focal orofacial automatism seizure",[],[32898]],[32900,"Focal manual automatism seizure",[],[32898]],[32901,"Focal pedal automatism seizure",[],[32898]],[32902,"Focal perseverative automatism seizure",[],[32898]],[32903,"Focal vocal automatism seizure",[],[32898]],[32904,"Focal verbal automatism seizure",[],[32898]],[32905,"Focal sexual automatism seizure",[],[32898]],[32906,"Focal head nodding automatism seizure",[],[32898]],[32907,"Focal undressing automatism seizure",[],[32898]],[32908,"Focal aware undressing automatism seizure",[],[32907,32910]],[32909,"Focal impaired awareness automatism seizure",[],[32712,32898]],[32910,"Focal aware automatism seizure",[],[20217,32898]],[32911,"Focal aware orofacial automatism seizure",[],[32899,32910]],[32912,"Focal aware manual automatism seizure",[],[32900,32910]],[32913,"Focal aware pedal automatism seizure",[],[32901,32910]],[32914,"Focal aware perseverative automatism seizure",[],[32902,32910]],[32915,"Focal aware vocal automatism seizure",[],[32903,32910]],[32916,"Focal aware verbal automatism seizure",[],[32904,32910]],[32917,"Focal aware sexual automatism seizure",[],[32905,32910]],[32918,"Focal impaired awareness orofacial automatism seizure",[],[32899,32909]],[32919,"Focal aware head nodding automatism seizure",[],[32906,32910]],[32920,"Focal impaired awareness manual automatism seizure",[],[32900,32909]],[32921,"Focal impaired awareness pedal automatism seizure",[],[32901,32909]],[32922,"Focal impaired awareness perseverative automatism seizure",[],[32902,32909]],[32923,"Focal impaired awareness vocal automatism seizure",[],[32903,32909]],[32924,"Focal impaired awareness verbal automatism seizure",[],[32904,32909]],[32925,"Focal impaired awareness sexual automatism seizure",[],[32905,32909]],[32926,"Focal impaired awareness head nodding automatism seizure",[],[32906,32909]],[32927,"Focal impaired awareness undressing automatism seizure",[],[32907,32909]],[32928,"Elevated CSF neurofilament light chain concentration",["Elevated CSF neurofilament light chain"],[25456]],[32929,"Abnormal chondrocyte morphology",[],[2763]],[32930,"Lacunar halos around chondrocytes",[],[32929]],[32932,"Increased circulating pancreatic triacylglycerol lipase level",["Elevated circulating pancreatic triacylglycerol lipase activity"],[12379]],[32933,"Airway hyperresponsiveness",[],[2795]],[32934,"Spontaneous cerebrospinal fluid leak",[],[10651]],[32935,"Posterior crocodile shagreen of the cornea",[],[7881]],[32936,"Intrusion symptom",["Re-experiencing symptom"],[5200230]],[32937,"Intrusive mental imagery",["Recurrent, involuntary, and intrusive distressing memories"],[25792,32936]],[32938,"Recurrent trauma-related distressing dreams",[],[32936]],[32939,"Physiological reactivity to cues",[],[32936]],[32940,"Dissociation",["Dissociative reaction"],[5200216]],[32941,"Intense psychological distress to cues",[],[32936]],[32942,"Avoidance of stimuli associated with traumatic event",[],[100852]],[32943,"Abnormal urine pH",[],[3110]],[32944,"Alkaline urine",[],[32943]],[32945,"Renal interstitial inflammation",[],[32581]],[32946,"Renal cortical interstitial inflammation",[],[32945]],[32947,"Renal medullary interstitial inflammation",[],[32945]],[32948,"Renal interstitial fibrosis",[],[32581]],[32949,"Renal interstitial calcium phosphate deposits",[],[32644]],[32950,"Abnormal renal tubular lumen morphology",["Abnormal renal tubular luminal morphology"],[91]],[32951,"Renal tubular viral cytopathic changes",[],[91]],[32952,"Usual-type tubular atrophy",["Common-type renal tubular atrophy"],[92]],[32953,"Renal tubular cytomegalovirus inclusions",[],[32951]],[32954,"Renal tubular adenovirus inclusions",[],[32951]],[32955,"Renal tubular polyoma virus inclusions",[],[32951]],[32956,"Renal tubular herpes simplex virus inclusions",[],[32951]],[32957,"Dysmorphic hematuria",["Acanthocyturia"],[790]],[32958,"Urinary oval fat bodies",[],[12614]],[32959,"Intratubular calcium oxalate casts",[],[8672,32623]],[32960,"Intratubular calcium phosphate casts",[],[32623]],[32961,"Magnesium ammonium phosphate crystalluria",["Struvite urinary crystals"],[20074]],[32962,"Tubular microcystic change",[],[32950]],[32963,"Complex renal cyst",[],[107]],[32964,"Uric acid crystalluria",[],[20074]],[32965,"Interstitial emphysema",[],[2097]],[32966,"Centrilobular emphysema",["Centriacinar emphysema"],[2097]],[32967,"Panacinar emphysema",[],[2097]],[32968,"Expiratory air trapping",[],[31983]],[32969,"Traction bronchiectasis",[],[25426]],[32970,"Traction bronchiolectasis",[],[25426]],[32971,"Computed tomographic halo sign",["CT halo sign"],[25179]],[32972,"Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT",[],[25392]],[32973,"Abnormal bronchoalveolar lavage fluid morphology",[],[2088]],[32974,"Abnormal cellular composition of bronchoalveolar fluid",["Abnormal cell differential of broncho-alveolar fluid"],[32973]],[32975,"Abnormal bronchoalveolar fluid protein level",["Abnormal biochemical composition of broncho-alveolar fluid","Abnormal level of proteins in the broncho-alveolar fluid"],[32973]],[32976,"Elevated bronchoalveolar lavage fluid lymphocyte proportion",[],[32974]],[32977,"Elevated bronchoalveolar lavage fluid neutrophil proportion",["Elevated level of neutrophils in broncho-alveolar lavage fluid"],[32974]],[32978,"Lipid-laden macrophages in bronchoalveolar fluid",[],[32984]],[32979,"Hemosiderin-laden macrophages in bronchoalveolar fluid",["Accumulation of hemosiderin laden alveolar macrophages","Siderophages in bronchoalveolar fluid"],[32984]],[32980,"Absent bronchoalveolar surfactant-protein C",[],[32975]],[32981,"Absent bronchoalveolar dimeric surfactant-protein B",[],[32975]],[32983,"Atoll sign",["Reversed halo sign"],[25179]],[32984,"Abnormal alveolar macrophage morphology",[],[32974]],[32985,"Dust particle inclusion in alveolar macrophages",[],[32984]],[32986,"Smoker-inclusions in alveolar macrophages",[],[32984]],[32987,"Elevated bronchoalveolar lavage fluid eosinophil proportion",[],[32974]],[32988,"Persistent head lag",["Head lag","Headlag"],[1270]],[32989,"Delayed ability to roll over",[],[2194]],[32990,"Localized pulmonary hemorrhage",["Localised pulmonary haemorrhage"],[40223]],[32991,"Abnormal pulmonary fissure morphology",[],[2103,4000059]],[32992,"Abnormal pulmonary fissure architecture",[],[32991]],[32993,"Abnormal pulmonary fissure count",[],[32991]],[32994,"Supernumerary pulmonary fissure",["increased pulmonary fissure count"],[32993]],[32995,"Decreased pulmonary fissure count",["Reduced pulmonary fissure count"],[32993]],[32996,"Abnormal circulating cystatin-C concentration",["Abnormal cystatin-C level"],[10876]],[32997,"Decreased circulating cystatin-C concentration",["Decreased cystatin C level","Decreased cystatin-C concentration","Decreased cystatin-C level","Decreased cystatin-C level in blood","Reduced cystatin-C concentration","Reduced cystatin-C level","Reduced cystatin-C level in blood"],[32996]],[32998,"Elevated circulating cystatin-C concentration",["Elevated cystatin-C concentration","Elevated cystatin-C level","Elevated cystatin-C level in blood","Increased cystatin-C concentration","Increased cystatin-C level","Increased cystatin-C level in blood"],[32996]],[32999,"Increased fecal porphyrin",["Increased faecal porphyrin"],[31685]],[33000,"Subglottic laryngitis",["Croup","Laryngitis","Pseudocroup","Spasmodic croup","Viral croup"],[25423]],[33001,"Laryngeal papilloma",["Laryngeal papillomas","Laryngeal papillomatosis"],[100605]],[33002,"Bronchial papilloma",[],[30077]],[33003,"Tracheal papilloma",[],[100551]],[33004,"Palmar warts",[],[40211]],[33005,"Plantar warts",[],[100872]],[33006,"Diffuse alveolar damage",[],[33137]],[33007,"Architectural distortion of the lung",[],[2088]],[33008,"Increased Z-disc width",["Increased Z-disk width","Widened z-discs"],[20202]],[33009,"Increased fecal coproporphyrin 1",["Elevated faecal coproporphyrin 1","Elevated fecal coproporphyrin 1","Elevated stool coproporphyrin 1","High faecal coproporphyrin 1","High fecal coproporphyrin 1","High stool coproporphyrin 1","Increased faecal coproporphyrin 1"],[32999]],[33010,"Increased fecal coproporphyrin 3",["Elevated faecal coproporphyrin 3","Elevated fecal coproporphyrin 3","Elevated stool coproporphyrin 3","High faecal coproporphyrin 3","High fecal coproporphyrin 3","High stool coproporphyrin 3","Increased faecal coproporphyrin 3"],[32999]],[33011,"Platystencephaly",[],[2683]],[33012,"Abnormal salivary metabolite concentration",[],[1939]],[33013,"Abnormal salivary cortisol level",[],[33012]],[33014,"Decreased salivary cortisol level",[],[33013]],[33015,"Increased salivary cortisol level",[],[33013]],[33016,"Chronic decreased circulating IgD concentration",["Chronic decreased IgM in blood"],[410245]],[33017,"Transient decreased circulating IgD concentration",["Transient decreased IgD in blood"],[410245]],[33018,"Chronic absent circulating IgD",["Chronic (near) absent IgM in blood"],[410245]],[33019,"Male reproductive system neoplasm",[],[10787]],[33020,"Female reproductive system neoplasm",[],[10787]],[33021,"Transient decreased circulating IgE concentration",["Transient decreased IgE in blood","Transient decreased circulating IgE"],[5479]],[33022,"Chronic decreased circulating IgE concentration",["Chronic decreased IgE in blood","Chronic decreased circulating IgE"],[5479]],[33023,"Chronic absent circulating IgE",["Chronic (near) absent IgE in blood"],[5479]],[33024,"Transient decreased circulating IgA concentration",[],[2720]],[33025,"Chronic absent circulating total IgG",["Chronic (near) absent total IgG in blood"],[32132]],[33026,"White oral mucosal macule",[],[100669]],[33027,"Retinal peau d'orange",[],[479]],[33028,"Anti-U1 ribonucleoprotein antibody positivity",["Anti-RNP-antibodies","Anti-U1-RNP antibody positivity","Anti-Scl-34 antibody positivity","Anti-U3 ribonucleoprotein antibody positivity"],[33476]],[33030,"Anti-glomerular basement membrane-antibody positivity",["Anti-GBM-antibody positivity"],[30057]],[33031,"Hyperpyrexia",[],[1945]],[33032,"Triggered by an abusive adult",["Munchausen syndrome by proxy"],[25204]],[33033,"Anti-MDA5 antibody positivity",["Increased level of anti-melanoma differentiation-associated protein 5 antibodies"],[30057]],[33034,"Anti-citrullinated protein antibody positivity",[],[30057]],[33035,"Abnormal Schwann cell morphology",["Abnormal neurilemmal cell morphology","Abnormal neurilemmocyte morphology"],[100705]],[33036,"Decreased nasal nitric oxide",["Low nasal nitric oxide level"],[2795]],[33037,"Migratory arthritis",["Migratory polyarthritis"],[1369]],[33038,"Anti-RNA-polymerase-III-autoantibody positivity",[],[30057]],[33039,"Increased circulating precipitin concentration",["Increased level of antigen-precipitating IgG antibodies"],[12224]],[33040,"Anti-Sm antibody positivity",["Anti-Smith autoantibody"],[33476]],[33041,"Cytokine storm",["Hypercytokinemia"],[11113]],[33042,"Abnormal chorion morphology",[],[100767]],[33043,"Edematous chorionic villi",[],[33042]],[33044,"Motor regression",["Regression of motor skills"],[2376]],[33045,"Bipedal edema",["Bipedal oedema"],[10741]],[33046,"Michaelis-Gutmann bodies",["Malakoplakia"],[4311]],[33047,"Body ache",[],[25142]],[33048,"Substantia nigra hypointensity on susceptibility-weighted imaging",["Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI)"],[45007]],[33049,"Globus pallidus hypointensity on susceptibility-weighted imaging",[],[2453]],[33050,"Pharyngalgia",["Pharyngodynia","Sore throat","Throat discomfort","Throat pain"],[12531,33152]],[33051,"Impaired executive functioning",[],[708]],[33052,"Non-epileptic seizure",["Functional seizure","Psychogenic non-epileptic seizure","Psychosomatic seizure"],[708]],[33053,"Pseudoseizure",[],[33052]],[33054,"Myoclonic tremor",[],[40148]],[33055,"Impaired ability to plan",["Ineffective planning"],[33051]],[33056,"Impaired ability to organize",["Impaired ability to organise"],[33051]],[33057,"Decreased circulating terminal complement component concentration",["Decreased serum terminal complement component"],[4431]],[33058,"Decreased circulating complement C7 concentration",["Decreased serum complement C7"],[33057]],[33059,"Decreased circulating complement C6 concentration",[],[33057]],[33060,"Decreased circulating complement C5 concentration",["Decreased serum complement C5"],[33057]],[33061,"Increased factor IX activity",[],[33062]],[33062,"Abnormal factor IX activity",[],[10989]],[33063,"Shortened sleep phase",["Short sleep"],[6979]],[33064,"Renal interstitial globotriaosylceramide inclusions",[],[32581]],[33065,"Mild albuminuria",[],[12592]],[33066,"Severe albuminuria",["Heavy albuminuria"],[12592]],[33067,"Cystine crystalluria",[],[20074]],[33068,"Medication crystalluria",[],[20074]],[33069,"Renal interstitial IgG4+ plasma cell infiltration",[],[32581]],[33070,"Impaired self monitoring",[],[33051]],[33071,"Impaired task monitoring",[],[33051]],[33072,"Abnormal macroscopic urine appearance",[],[3110]],[33073,"Urate tophus",["Urate tophi"],[11356]],[33074,"Steroid-responsive anemia",["Prednisone-responsive anaemia","Prednisone-responsive anemia","Steroid-responsive anaemia"],[1903]],[33075,"Inappropriately normal thyroid-stimulating hormone level",["Inappropriately normal TSH"],[31097]],[33076,"Abnormal circulating free T4 concentration",["Abnormal circulating free T4 level","Abnormal circulating free thyroxine level"],[31508]],[33077,"Increased circulating free T4 concentration",["Increased circulating free T4 level"],[33076]],[33078,"Decreased circulating free T4 concentration",["Decreased circulating free T4 level"],[33076]],[33079,"Aplasia/Hypoplasia of the thyroid gland",[],[11772]],[33080,"Abnormal TSH response to thyrotrophin-releasing hormone stimulation test",["Abnormal TSH response to TRH stimulation test"],[2926]],[33081,"Absent TSH response to thyrotrophin-releasing hormone stimulation test",[],[33080]],[33082,"Reduced TSH response to thyrotrophin-releasing hormone stimulation test",[],[33080]],[33083,"Increased circulating farnesol concentration",[],[3119]],[33084,"Abnormal antral follicle count",[],[31066]],[33085,"Reduced antral follicle count",[],[33084]],[33086,"Increased antral follicle count",[],[33084]],[33087,"Quotidian fever",[],[32323]],[33088,"Valinuria",["Increased valine in urine"],[33089]],[33089,"Branched-chain aminoaciduria",[],[33100]],[33090,"Increased aromatic amino acid level in urine",[],[33100]],[33091,"Tyrosinuria",["Increased tyrosine in urine"],[33090]],[33092,"Increased urine succinate level",[],[3215]],[33093,"Increased glutamine family amino acid level in urine",[],[33100]],[33094,"Increased urine glutamate level",["Increased glutamic acid in urine"],[33093]],[33095,"Increased sulfur amino acid level in urine",["Increased sulfur-containing amino acid level in urine","Increased sulphur amino acid level in urine"],[33100]],[33096,"Increased aspartate family amino acid level in urine",[],[33100]],[33097,"Increased urine proteinogenic amino acid derivative level",[],[3355]],[33098,"Increased urinary non-proteinogenic amino acid level",["Abnormal urinary non-proteinogenic amino acid level","Elevated urinary non-proteinogenic amino acid level"],[3355]],[33099,"Increased serine family amino acid in urine",[],[33100]],[33100,"Increased proteinogenic amino acid level in urine",[],[3355]],[33101,"Elevated urine aconitic acid level",[],[31980]],[33102,"Monkey wrench femoral neck",["Monkey wrench appearance of femoral neck","Monkey wrench configuration of the proximal femur","Swedish key appearance of femoral neck","Swedish key configuration of the proximal femur"],[3367]],[33103,"Elevated circulating CHI3L1 concentration",["Elevated chitinase-3-like protein 1 concentration","Elevated chitinase-3-like protein 1 level","Elevated chitinase-3-like protein 1 level in blood","Elevated circulating YKL40 level","Elevated circulating chitinase 3-like 1 level","Increased chitinase-3-like protein 1 concentration","Increased chitinase-3-like protein 1 level","Increased chitinase-3-like protein 1 level in blood"],[10876]],[33104,"Inappropriate absence of fever",[],[4370]],[33105,"Interhypothalamic adhesion",["Hypothalamic adhesion"],[12286]],[33106,"Elevated circulating D-dimer concentration",["Elevated D-dimers","Elevated fibrin degradation fragment concentration"],[40224]],[33107,"Abnormal circulating proteinogenic amino acid concentration",["Abnormal proteinogenic amino acid level"],[3112]],[33108,"Abnormal circulating proteinogenic amino acid derivative concentration",["Abnormal proteinogenic amino acid derivative level"],[3112]],[33109,"Abnormal circulating non-proteinogenic amino acid concentration",["Abnormal non-proteinogenic amino acid level"],[3112]],[33110,"Elevated circulating alpha-aminobutyric acid concentration",["Elevated circulating homoalanine concentration"],[33109]],[33111,"3-hydroxyisovaleric aciduria",["Increased urine 3-hydroxyisovaleric acid level"],[1992]],[33112,"Elevated circulating apolipoprotein C-III concentration",["Elevated APOC3 level","Elevated apolipoprotein C-III concentration","Elevated apolipoprotein C-III level","Elevated apolipoprotein C-III level in blood","Increased apolipoprotein C-III concentration","Increased apolipoprotein C-III level","Increased apolipoprotein C-III level in blood"],[33460]],[33113,"Gallop rhythm",["Triple rhythm"],[31657]],[33114,"Quadruple gallop rhythm",[],[33113]],[33115,"Elevated circulating tenascin-C concentration",[],[10876]],[33116,"Duodenal gastric metaplasia",[],[2246]],[33117,"Duodenitis",["Duodenal inflammation"],[2246]],[33118,"Abnormal right ventricular function",[],[30872]],[33119,"Elevated right ventricular systolic pressure",[],[33118]],[33120,"Nummular eczema",["Discoid eczema","Nummular dermatitis"],[964]],[33121,"Barking cough",["Seal-like barking cough"],[12735]],[33122,"Absent P wave",["Absence of P wave on electrocardiography"],[31595]],[33123,"Elevated circulating osteopontin concentration",["Elevated osteopontin concentration","Elevated osteopontin level","Elevated osteopontin level in blood","Increased osteopontin concentration","Increased osteopontin level","Increased osteopontin level in blood"],[10876]],[33124,"Elevated circulating sorbitol concentration",["Increased serum sorbitol concentration"],[20349]],[33125,"Follicular lymphoma",[],[12191]],[33126,"Cutaneous necrosis",["Skin necrosis","Skin necrotic patch"],[11355]],[33127,"Abnormality of the musculoskeletal system",[],[118]],[33128,"Delayed ability to crawl",[],[2194]],[33129,"Abnormal shoulder physiology",[],[34430]],[33130,"Abnormal renal echogenicity",[],[12210]],[33131,"Renal medullary hyperechogenicity",["Increased renal medullary echogenicity"],[33130]],[33132,"Renal cortical hyperechogenicity",[],[33130]],[33133,"Renal cortical hypoechogeneity",["Hypoechogenic renal cortex"],[33130]],[33134,"Abdominal adhesions",["Intra-abdominal adhesion"],[1438]],[33135,"Hepatic infarction",[],[410042]],[33136,"Lymph node abscess",[],[2733,5210134]],[33137,"Abnormal pulmonary alveolar system morphology",[],[2088]],[33138,"Right atrial thrombus",[],[25580]],[33139,"Elevated circulating uracil concentration",[],[4353]],[33140,"Blake's pouch cyst",[],[932]],[33141,"Severe SARS-CoV-2 infection",["Disseminated COVID-19","Invasive COVID-19","Severe COVID-19"],[31691,34317]],[33142,"Long nasal bridge",[],[422]],[33143,"Jejunitis",[],[5265]],[33144,"Abnormal circulating ceruloplasmin concentration",["Abnormal ceruloplasmin level"],[10876]],[33145,"Elevated circulating ceruloplasmin concentration",["Elevated ceruloplasmin concentration","Elevated ceruloplasmin level","Elevated ceruloplasmin level in blood","Increased ceruloplasmin concentration","Increased ceruloplasmin level","Increased ceruloplasmin level in blood"],[33144]],[33146,"Elevated circulating methylsuccinic acid concentration",[],[10995]],[33147,"Abnormal circulating short-chain fatty acid concentration",["Abnormal circulating short-chain fatty-acid concentration","Abnormal short-chain fatty acid level"],[4359]],[33148,"Increased circulating isovaleric acid concentration",["Increased circulating isovalerate","Isovalericacidemia"],[33147]],[33149,"Intrahepatic bile duct dilatation",["Dilatation of intrahepatic biliary ducts"],[11040]],[33150,"Anorectal abscess",[],[2034,25615]],[33151,"Abnormal pharynx morphology",[],[600]],[33152,"Abnormal pharynx physiology",[],[600]],[33153,"Elevated circulating dodecenoylcarnitine concentration",["Elevated plasma dodecenoylcarnitine concentration"],[430143]],[33154,"Elevated circulating deoxypyridinoline concentration",[],[33386]],[33155,"Elevated circulating L-alloisoleucine concentration",[],[33108]],[33156,"Elevated urine L-alloisoleucine level",[],[33097]],[33157,"Elevated circulating 3-methylhistidine concentration",[],[33108]],[33158,"Reduced respiratory ciliary beating frequency",["Dminished respiratory ciliary beat frequency"],[12261]],[33159,"Reduced urinary inosine level",[],[40421]],[33160,"Decreased urinary guanosine level",[],[40423]],[33161,"Abnormal urinary purine level",[],[32572]],[33162,"Abnormal urinary pyrimidine level",[],[32572]],[33163,"Small intestinal bacterial overgrowth",[],[2244]],[33164,"Focal active colitis",[],[2583]],[33165,"Necrotizing enterocolitis",[],[4387]],[33166,"Recurrent viral upper respiratory tract infections",[],[2788,4429]],[33167,"Neutrophilic urticarial dermatosis",[],[1025]],[33168,"Reduced mevalonate kinase activity",[],[12379]],[33169,"Reduced total lung capacity",["Reduced TLC"],[30878]],[33170,"Abnormal skinfold thickness measurement",[],[4323]],[33171,"Abnormal triceps skinfold thickness",[],[33170]],[33172,"Increased triceps skinfold thickness",[],[33171]],[33173,"Milky appearance of bronchoalveolar lavage fluid",[],[32973]],[33174,"Bloody bronchoalveolar lavage fluid",[],[32973]],[33175,"Elevated circulating 5-oxoproline concentration",["Elevated circulating L-pyroglutamic acid concentration"],[33108]],[33176,"Submandibular lymph node enlargement",["Submandibular lymphadenopathy"],[2716]],[33177,"Elevated circulating suberic acid concentration",[],[10995]],[33178,"Increased circulating interleukin 8 concentration",["Increased serum IL-8","Increased serum interleukin 8","Increased serum interleukin-8"],[11117]],[33179,"Elevated circulating aconitic acid concentration",[],[4354]],[33180,"Torsion of appendix of testis",["Twisted vestigial remnant of the Muellerian duct"],[35]],[33181,"Spinal epidural abscess",["A severe pyogenic infection of the epidural space"],[25615]],[33182,"Increased circulating cathepsin D level",[],[12379]],[33183,"Bilobed right lung",[],[2101]],[33184,"Triggered by infection",[],[25204]],[33185,"Triggered by EBV infection",["Triggered by Epstein Barr virus infection"],[33198]],[33186,"Misalignment of the pulmonary veins",[],[30968]],[33187,"Hyperimidodipeptiduria",["Imidodipeptiduria"],[33354]],[33188,"Cystic acne",[],[1061]],[33189,"Radiculomegaly",["Long dental root","Rhizomegaly","Root gigantism"],[40220]],[33190,"Hypertrichotic hyperpigmented patch",["Cutaneous hyperpigmentation with overlying hypertrichosis"],[953]],[33191,"Increased circulating selenium concentration",[],[31903]],[33192,"Decreased circulating selenium concentration",[],[31903]],[33193,"Ballooning hepatocyte degeneration",["Ballooning degeneration of hepatocytes"],[34713]],[33194,"Perioral erythema",[],[10783]],[33195,"Perianal erythema",[],[10783]],[33196,"Portal inflammation",["Hepatic portal inflammation"],[4297]],[33197,"Hepatic lobular inflammation",[],[30146]],[33198,"Triggered by viral infection",[],[33184]],[33199,"Increased circulating interleukin 10 concentration",["Increased serum interleukin 10"],[34162]],[33200,"Triceps hyporeflexia",["Hyporeflexia of triceps"],[12391]],[33201,"Biceps hyporeflexia",["Hyporeflexia of biceps"],[12391]],[33202,"Brachioradialis hyporeflexia",[],[12391]],[33203,"Brachioradialis hyperreflexia",[],[7054,7350]],[33204,"Triceps hyperreflexia",[],[7350]],[33205,"Biceps hyperreflexia",[],[7350]],[33206,"Hyperactive Achilles reflex",["Hyperactive ankle jerk reflex","Hyperactive ankle reflex"],[2395]],[33207,"Increased CD21low B cell proportion",["Increased proportion autoreactive unresponsive CD21-/low B cells"],[25539]],[33208,"Alveolar capillary dysplasia",[],[4000060]],[33209,"Acinar dysplasia",[],[6703]],[33210,"Congenital alveolar dysplasia",[],[6703]],[33211,"Decreased total iron binding capacity",[],[33212]],[33212,"Abnormal total iron binding capacity",[],[11031]],[33213,"Elevated urine suberic acid level",["Elevated urine octanedioic acid level"],[3215]],[33214,"Recurrent viral pneumonia",[],[4429,6532]],[33215,"Obliterative abnormality of the renal glomerulus",[],[95]],[33216,"Glomerular hyalinosis",[],[33215]],[33217,"Perihilar glomerular hyalinosis",[],[33216]],[33218,"Glomerular hyalinosis at the tubular pole",[],[33216]],[33219,"Glomerular hyalinosis away from the vascular and tubular poles",[],[33216]],[33220,"2-ethylhydracylic aciduria",["Elevated urinary 2-ethylhydracylic acid","Elevated urinary 2-methylbutyrylglycine"],[40156]],[33221,"Increased CD4:CD8 ratio",[],[31394]],[33222,"Inverted CD4:CD8 ratio",["Decreased CD4:CD8 ratio","Inverted CD4/CD8 ratio"],[31394]],[33223,"Abnormal glomerular parietal epithelial cell morphology",[],[31264]],[33224,"Glomerular parietal epithelial cell hyperplasia",["Hyperplasia of the glomerular parietal epithelial cell"],[33223]],[33225,"Glomerular parietal epithelial cell hypertrophy",["Hypertrophy of the glomerular parietal epithelial cell"],[33223]],[33226,"Bowman capsular hyaline drops",["Capsular hyaline drops within Bowman's capsule"],[31264]],[33227,"Glomerular synechial adhesion",[],[33282]],[33228,"Triceps areflexia",["Areflexia of triceps"],[12046]],[33229,"Brachioradialis areflexia",["Areflexia of brachioradialis"],[12046]],[33230,"Biceps areflexia",["Areflexia of biceps"],[12046]],[33231,"Abnormal glomerular mesangial cellularity",[],[1966]],[33232,"Abnormal glomerular mesangial matrix morphology",[],[1966]],[33233,"Paramesangial deposits",[],[1966]],[33234,"Mesangial hyaline deposition",[],[1966]],[33235,"Difficulty descending stairs",["Difficulty walking down stairs"],[4302]],[33236,"Cognitive fatigue",["Central fatigue"],[12378]],[33237,"Visceral epithelial cell detachment",["Detachment of visceral epithelial cells","Podocyte detachment"],[31265]],[33238,"Podocyte microvillous transformation",[],[31265]],[33239,"Visceral epithelial cell capping",["Podocyte cap"],[20133]],[33240,"Elevated RV/TLC ratio",["Hyperinflation on pulmonary function test","Overinflation on pulmonary function test"],[33772]],[33241,"Polyalveolar lobe",[],[4000060]],[33242,"Horseshoe lung",[],[2101]],[33243,"Pulmonary necrosis",[],[6530]],[33244,"Glycogen accumulation in pulmonary interstitial cells",[],[6530]],[33245,"Abnormal alveolar type II pneumocyte morphology",["Abnormal alveolar epithelial type II cell morphology","Abnormal pulmonary type II cell morphology","Abnormal type II pneumocyte morphology"],[33137]],[33246,"Type II pneumocyte hypertrophy",["Hypertrophic alveolar type II cells","Hypertrophic alveolar type II pneumocytes"],[33245]],[33247,"Pulmonary amyloidosis",[],[6530,20015]],[33248,"Multiple pulmonary interstitial hyalinized nodules",[],[6530]],[33249,"Focal substantia nigra T2 hyperintensity",["Focal substantia nigra T2 hyperintense lesion"],[45007]],[33250,"Nailfold capillary tortuosity",[],[1597]],[33251,"Elevated residual volume",["Elevated RV"],[33752]],[33252,"Palmar hyperlinearity",[],[40211]],[33253,"Reduced circulating interferon gamma concentration",["Reduced circulating interferon gamma"],[30355]],[33254,"Anorectal stricture",["Stricture of the anorectum"],[12732]],[33255,"Congenital lobar overinflation",["Congenital lobar emphysema"],[2101]],[33256,"Pancolitis",[],[2583]],[33257,"Delayed ability to walk with support",["Delayed ability to cruise"],[2194]],[33258,"Sudden unexpected death in epilepsy",["SUDEP"],[1699]],[33259,"Non-motor seizure",[],[1250]],[33260,"Livedo racemosa",[],[33832]],[33261,"Renal artery aneurysm",[],[8776]],[33262,"Transphyseal fracture of the distal humerus",["Transphyseal distal humerus fracture"],[41055]],[33263,"Absent platelet dense granules",["Absent platelet dense bodies"],[12530]],[33264,"Enlarged platelet dense granules",[],[12484]],[33265,"Podocyte myelin figures",["Podocyte myelin inclusions"],[31265]],[33266,"Glomerular pseudocrescent",[],[31265]],[33267,"Abnormal glomerular capillary lumen morphology",[],[25006]],[33268,"Deflation of the glomerular tuft",[],[33267]],[33269,"Glomerular capillary collapse",["Collapse of glomerular capillary walls"],[33267]],[33270,"Glomerular capillary congestion",["Glomerular congestion"],[33267]],[33271,"Glomerular capillary microaneurysm",[],[33267]],[33272,"Abnormal glomerular endothelial cell morphology",[],[25006]],[33273,"Loss of glomerular endothelial cell fenestration",[],[33272]],[33274,"Glomerular endotheliosis",[],[33272]],[33275,"Glomerular endothelial tubuloreticular inclusion",[],[33272]],[33277,"Glomerular fibrinoid necrosis",[],[25006]],[33278,"Reduced CD95-induced lymphocyte apoptosis",[],[2731]],[33279,"Enterocutaneous fistula",[],[100819]],[33280,"Paratracheal lymphadenopathy",[],[2716]],[33281,"Circulating nucleated red blood cells",[],[1877]],[33282,"Abnormal glomerular basement membrane morphology",[],[95]],[33283,"Segmentally thickened glomerular basement membrane",[],[33285]],[33284,"Diffusely thickened glomerular basement membrane",[],[33285]],[33285,"Thickened glomerular basement membranes with no electron dense deposits",[],[4722]],[33286,"Thickened glomerular basement membranes with electron dense deposits",[],[4722]],[33287,"Glomerular basement membrane lucencies",[],[33282]],[33288,"Glomerular basement membrane spikes",[],[33282]],[33289,"Glomerular basement membrane wrinkling",[],[33282]],[33290,"Glomerular subendothelial widening",[],[33282]],[33291,"Glomerular karyhorrhectic debris",[],[33267]],[33292,"Glomerular fibrin thrombus",[],[33267]],[33293,"Glomerular hyaline pseudothrombus",[],[33267]],[33294,"Glomerular lipoprotein thrombus",[],[33267]],[33295,"Mesangial Immune complex deposition",[],[1966]],[33296,"Binucleated visceral epithelial cells",["Binucleated podocytes"],[31265]],[33297,"Multinucleated visceral epithelial cells",["Multinucleated podocytes","Podocyte multinucleation"],[31265]],[33298,"Abnormal circulating complement factor H-related protein 1 concentration",["Abnormal complement factor H-related protein 1 level"],[10876]],[33299,"Decreased circulating complement factor H-related protein 1 concentration",["Decreased complement factor H-related protein 1 concentration","Decreased complement factor H-related protein 1 level","Decreased complement factor H-related protein 1 level in blood","Reduced complement factor H-related protein 1 concentration","Reduced complement factor H-related protein 1 level","Reduced complement factor H-related protein 1 level in blood"],[33298]],[33300,"Elevated circulating complement factor H-related protein 1 concentration",["Elevated complement factor H-related protein 1 concentration","Elevated complement factor H-related protein 1 level","Elevated complement factor H-related protein 1 level in blood","Increased complement factor H-related protein 1 concentration","Increased complement factor H-related protein 1 level","Increased complement factor H-related protein 1 level in blood"],[33298]],[33301,"Elevated circulating 1-methylhistidine concentration",[],[33109]],[33302,"Elevated circulating 4-hydroxyphenylacetic acid concentration",[],[10996]],[33303,"Elevated urinary monocarboxylic acid level",["Monocarboxylic aciduria"],[40156]],[33305,"Abnormal circulating fetuin-A concentration",["Abnormal alpha-2-HS-glycoprotein level"],[10876]],[33306,"Decreased circulating fetuin-A concentration",["Decreased alpha-2-HS-glycoprotein concentration","Decreased alpha-2-HS-glycoprotein level","Decreased alpha-2-HS-glycoprotein level in blood","Reduced alpha-2-HS-glycoprotein concentration","Reduced alpha-2-HS-glycoprotein level","Reduced alpha-2-HS-glycoprotein level in blood"],[33305]],[33307,"Elevated circulating fetuin-A concentration",["Elevated alpha-2-HS-glycoprotein concentration","Elevated alpha-2-HS-glycoprotein level","Elevated alpha-2-HS-glycoprotein level in blood","Increased alpha-2-HS-glycoprotein concentration","Increased alpha-2-HS-glycoprotein level","Increased alpha-2-HS-glycoprotein level in blood"],[33305]],[33308,"Patellar overgrowth",[],[3045]],[33309,"Ileoileal intussusception",[],[2576]],[33310,"Osmotic diarrhea",[],[2014]],[33311,"Abdominal aortic dissection",[],[2647]],[33312,"Abnormal Bowman space morphology",[],[31264]],[33313,"Urinary space collagenization",["Collagenization of the urinary space"],[33312]],[33314,"Visceral epithelial cell hyperplasia",["Hyperplasia of visceral epithelial cells","Podocyte hyperplasia"],[31265]],[33315,"Visceral epithelial hyaline droplets",[],[31265]],[33316,"Glomerular crescent formation",[],[33312]],[33317,"Cellular crescent",[],[33316]],[33318,"Fibrocellular crescent",[],[33316]],[33319,"Fibrous crescent",[],[33316]],[33320,"Mesangial cell loss",[],[33231]],[33321,"Glomerular obsolescence",[],[4737]],[33322,"Glomerular capillary wall duplication without cellular interposition",[],[25006]],[33323,"Glomerular capillary wall duplication with cellular interposition",[],[25006]],[33324,"Elevated circulating homovanillic acid concentration",[],[10996]],[33325,"Elevated circulating sebacic acid concentration",[],[10995]],[33326,"Elevated circulating hydroxyphenyllactic acid concentration",[],[4354]],[33327,"Nail psoriasis",[],[1597]],[33328,"Type II pneumocyte hyperplasia",[],[33245]],[33329,"Abnormal postural reflex",["Abnormal postural reaction"],[31826]],[33330,"Impaired neck-righting reflex",[],[33329]],[33331,"Acute phase response",[],[1939]],[33332,"Elevated circulating serum amyloid A concentration",["Elevated circulating amyloid A","Elevated serum amyloid A concentration","Elevated serum amyloid A level","Elevated serum amyloid A level in blood","Increased serum amyloid A concentration","Increased serum amyloid A level","Increased serum amyloid A level in blood"],[10876,33331]],[33333,"Jaw contracture",[],[1371,30791]],[33334,"Abnormal embryonic development",[],[1197]],[33335,"Abnormal preimplantation embryonic development",[],[33334]],[33336,"Zygotic cleavage failure",["Failure of zygotic cell division"],[33335]],[33337,"Abnormal gametogenesis",[],[80]],[33338,"Abnormal female meiosis",[],[31515]],[33339,"Increased circulating inosine concentration",[],[4368]],[33340,"Increased circulating guanosine concentration",[],[4368]],[33341,"Elevated circulating sitosterol concentration",["Elevated circulating beta-sitosterol concentration"],[3119]],[33342,"Anti-aquaporin 4 antibody positivity",["Anti-AQP4 antibody positivity"],[30057]],[33343,"Mucoid diarrhea",["Mucous diarrhea","Mucous diarrhoea"],[2014]],[33344,"Pleural cobblestoning",[],[6530]],[33345,"Neuralgia",[],[12531]],[33346,"Psychic epileptic aura",["Psychic aura"],[33348]],[33347,"Cognitive epileptic aura",[],[33346]],[33348,"Epileptic aura",[],[32679]],[33349,"Seizure cluster",["Acute repetitive seizures","Crescendo seizures","Cyclical seizures","Recurrent seizures","Seizure flurries","Serial seizures"],[31796]],[33350,"Elevated forced expiratory volume in one second",["Elevated FEV1"],[30878]],[33351,"Candida esophagitis",["Esophageal candidiasis"],[32255,100633]],[33352,"Pulmonary hypertensive crisis",["Pulmonary arterial hypertension crisis"],[4890]],[33353,"Abnormal blood vessel morphology",[],[25015]],[33354,"Abnormal urine metabolite level",[],[3110]],[33355,"Increased urine deoxypyridinoline level",["Elevated urinary DPD"],[33384]],[33356,"Elevated circulating o-phosphoserine concentration",[],[33109]],[33357,"Limited head rotation",[],[5986]],[33358,"Abnormal urine osmolality",[],[3110]],[33359,"Hyperosthenuria",["Elevated urine osmolality","Elevated urine osmolarity"],[33358]],[33360,"Impaired ability to shift attention",["Impaired task shifting"],[33051]],[33361,"Nasal ulcer",[],[433]],[33362,"Recurrent coughing spasms",[],[12735]],[33363,"Hyaline membranes",[],[33137]],[33364,"Lipoid pneumonia",[],[6530]],[33365,"Endogenous lipoid pneumonia",[],[33364]],[33366,"Exogenous lipoid pneumonia",[],[33364]],[33367,"Orthodeoxia",[],[12418]],[33368,"Platypnea",[],[2094]],[33369,"Cavitating leukodystrophy",[],[2415]],[33370,"Bronchial telangiectasia",["Endobronchial telangiectasia"],[4930,100579]],[33371,"Bronchocentric granulomatosis",[],[30250]],[33372,"Abnormal KCO",[],[30878]],[33373,"Increased KCO",[],[33372]],[33374,"Decreased KCO",[],[33372]],[33375,"Anthracosis",[],[6530]],[33376,"Alveolar septal thickening",[],[33137]],[33377,"Increased airway neuroendocrine cells",[],[25426]],[33378,"Increased airway neuroepithelial bodies",[],[25426]],[33379,"Bilateral superior vena cava",["Bilateral SVC"],[5301]],[33380,"Nasal chondritis",["Nose chondritis"],[100662,3000034]],[33381,"Elevated circulating stearoylcarnitine concentration",["Elevated circulating C18:0 acylcarnitine concentration"],[35020]],[33382,"Elevated circulating palmitoylcarnitine concentration",["Elevated circulating 16:0 acylcarnitine concentration"],[35021]],[33383,"Decreased compound muscle action potential amplitude",["Decreased CMAP amplitude"],[30179]],[33384,"Elevated urinary collagen degradation products",[],[33354]],[33385,"Elevated urine pyridinoline level",["Elevated urine hydroxylysyl-pyridinoline level"],[33384]],[33386,"Abnormal circulating collagen degradation product concentration",[],[430071]],[33387,"Elevated circulating pyridinoline concentration",[],[33386]],[33388,"Abnormal bronchial artery morphology",[],[11004]],[33389,"Bronchopulmonary anastomosis",[],[30966,33388]],[33390,"Bronchial artery dilatation",["Bronchial artery enlargement","Dilatation of a bronchial artery"],[33388]],[33391,"Bronchial artery hypertrophy",[],[33388]],[33392,"Perivascular pre-capillary pulmonary artery inflammation",["Perivascular inflammation of arterioles in the pulmonary circulation","Perivascular inflammation of pre-capillary pulmonary arteries"],[30966]],[33393,"Irregularly shaped sperm tail",["Sperm flagella with irregular caliber","Sperm flagella with irregular calibre"],[12868]],[33394,"Anti-carbonic anhydrase II antibody positivity",[],[30057]],[33395,"Antilactoferrin antibody positivity",[],[30057]],[33396,"Glomerular extracapillary fibrin",[],[33312]],[33397,"Bowman-space proteinaceous debris",[],[33312]],[33398,"Pleural plaque",[],[2103]],[33399,"Persistent fever",[],[1945]],[33400,"Acute abdomen",["Acute abdominal pain"],[2027]],[33401,"Tissue ischemia",[],[25323]],[33402,"Digital ischemia",[],[33401]],[33403,"Testicular ischemia",[],[33401]],[33404,"Intestinal ischemia",[],[33401]],[33405,"Abnormal circulating organic amino compound concentration",["Abnormal organic amino compound level"],[4364]],[33406,"Elevated circulating phosphoethanolamine concentration",["Elevated circulating o-phosphoethanolamine concentration"],[33405]],[33407,"Elevated urine acetoacetic acid level",[],[2919]],[33408,"Elevated circulating acetoacetic acid concentration",[],[410175]],[33409,"Elevated urinary 2-hydroxybutyric acid",[],[33303]],[33410,"Elevated circulating cartilage oligomeric matrix protein concentration",["Elevated cartilage oligomeric matrix protein concentration","Elevated cartilage oligomeric matrix protein level","Elevated cartilage oligomeric matrix protein level in blood","Increased cartilage oligomeric matrix protein concentration","Increased cartilage oligomeric matrix protein level","Increased cartilage oligomeric matrix protein level in blood"],[10876]],[33411,"Lower extremity akinesia",[],[2304]],[33412,"Upper extremity akinesia",["Akinesia of the upper extremities"],[2304]],[33413,"Upper extremity hypokinesia",["Hypokinesia of the upper extremities"],[2375]],[33414,"Lower extremity hypokinesia",["Hypokinesia of the lower extremities"],[2375]],[33415,"Cardiac tamponade",[],[11025]],[33416,"Hip adductor weakness",[],[3749]],[33417,"Elevated circulating hydroxybutyric acid concentration",[],[10996]],[33418,"Elevated circulating 2-hydroxybutyric acid concentration",[],[33417]],[33419,"Elevated circulating 3-hydroxybutyric acid concentration",[],[33417]],[33420,"Pulmonary arterial plexiform lesion",[],[30966]],[33421,"Pulmonary artery intimal thickening",[],[30966]],[33422,"Pulmonary artery adventitial fibrosis",[],[30966]],[33423,"Pulmonary arterial hypertension with positive acute response to NO challenge",[],[2092]],[33424,"Pulmonary arterial hypertension with lack of acute response to NO challenge",[],[2092]],[33425,"Periungual erythema",[],[100803]],[33426,"Pulmonary air embolism",["Venous air embolism"],[2204]],[33427,"Pulmonary capillary angioectasia",[],[4930]],[33428,"Systemic autoinflammation",[],[12649]],[33429,"Neuroinflammation",[],[12649]],[33430,"Non-infectious meningitis",["Aseptic meningitis"],[33429]],[33431,"Cytomegalovirus colitis",["CMV colitis"],[33432,5210146,5210182]],[33432,"Opportunistic viral infection",[],[31690,34317]],[33433,"Ileocecal ulcer",["Ileo-cecal ulcer"],[1549,34274]],[33434,"Nasal septum perforation",["Nasal-septum perforation","Perforation of the nasal septum"],[419]],[33435,"Abnormal circulating keto acid concentration",["Abnormal oxo carboxylic acid level"],[10996]],[33436,"Elevated circulating 3-methyl-2-oxovaleric acid concentration",[],[33435]],[33437,"Elevated circulating 4-methyl-2-oxopentanoic acid concentration",["Increased circulating alpha-ketoisocaproic acid concentration"],[33435]],[33438,"Elevated circulating myoglobin concentration",[],[10876]],[33439,"Elevated circulating decenoylcarnitine concentration",["Elevated circulating C10:1 acylcarnitine concentration","Elevated circulating O-decenoylcarnitine concentration","Elevated decenoylcarnitine concentration","Elevated decenoylcarnitine level","Elevated decenoylcarnitine level in blood","Elevated plasma decenoylcarnitine, C10:1","Increased decenoylcarnitine concentration","Increased decenoylcarnitine level","Increased decenoylcarnitine level in blood"],[35017]],[33440,"Elevated circulating octenoylcarnitine concentration",["Elevated O-octenoylcarnitine concentration","Elevated O-octenoylcarnitine level","Elevated O-octenoylcarnitine level in blood","Elevated circulating C8:1 acylcarnitine concentration","Elevated circulating O-octenoylcarnitine concentration","Elevated plasma octenoylcarnitine, C8:1","Increased O-octenoylcarnitine concentration","Increased O-octenoylcarnitine level","Increased O-octenoylcarnitine level in blood"],[35017]],[33441,"Elevated circulating hexanoylcarnitine concentration",["Elevated circulating C6:0 acylcarnitine concentration","Elevated circulating O-hexanoylcarnitine concentration","Elevated hexanoylcarnitine concentration","Elevated hexanoylcarnitine level","Elevated hexanoylcarnitine level in blood","Elevated plasma hexanoylcarnitine, C6:0","Increased hexanoylcarnitine concentration","Increased hexanoylcarnitine level","Increased hexanoylcarnitine level in blood"],[35026]],[33442,"Elevated circulating glutarylcarnitine concentration",["Elevated circulating C5-DC acylcarnitine concentration","Elevated circulating O-glutarylcarnitine concentration","Elevated plasma glutarylcarnitine, C5-DC"],[35019]],[33443,"Elevated circulating propionylcarnitine concentration",["Elevated C3 acylcarnitine","Elevated circulating O-propanoylcarnitine concentration","Elevated propionylcarnitine concentration","Elevated propionylcarnitine level","Elevated propionylcarnitine level in blood","Increased propionylcarnitine concentration","Increased propionylcarnitine level","Increased propionylcarnitine level in blood"],[35015]],[33444,"Elevated circulating dodecanoylcarnitine concentration",["Elevated circulating O-dodecanoylcarnitine concentration","Elevated plasma dodecanoylcarnitine, C12:0"],[430143]],[33445,"Decreased circulating fatty acylcarnitine concentration",["Decreased fatty acylcarnitine concentration","Decreased fatty acylcarnitine level","Decreased fatty acylcarnitine level in blood","Reduced fatty acylcarnitine concentration","Reduced fatty acylcarnitine level","Reduced fatty acylcarnitine level in blood"],[12071]],[33446,"Elevated circulating butyrylcarnitine concentration",["Elevated circulating O-butyrylcarnitine concentration"],[35016]],[33447,"Elevated circulating isovalerylcarnitine concentration",["Elevated circulating O-isovalerylcarnitine concentration"],[35019]],[33448,"Increased mid-arm muscle circumference",[],[1457]],[33449,"Decreased mid-arm muscle circumference",[],[1457]],[33450,"Abnormal circulating prealbumin concentration",["Abnormal transthyretin level"],[10876]],[33451,"Elevated circulating prealbumin concentration",["Elevated transthyretin concentration","Elevated transthyretin level","Elevated transthyretin level in blood","Increased transthyretin concentration","Increased transthyretin level","Increased transthyretin level in blood"],[33450]],[33453,"Limited neck extension",[],[5986]],[33454,"Tube feeding",[],[11968]],[33456,"Elevated urine keto acid level",[],[33303]],[33457,"Elevated urine 3-methyl-2-oxovaleric acid level",[],[33456]],[33458,"Elevated urine 4-methyl-2-oxopentanoic acid level",["Increased urine alpha-ketoisocaproic acid level"],[33456]],[33459,"Decreased circulating apolipoprotein concentration",["Decreased apolipoprotein concentration","Decreased apolipoprotein level","Decreased apolipoprotein level in blood","Reduced apolipoprotein concentration","Reduced apolipoprotein level","Reduced apolipoprotein level in blood"],[25201]],[33460,"Elevated circulating apolipoprotein concentration",["Elevated apolipoprotein concentration","Elevated apolipoprotein level","Elevated apolipoprotein level in blood","Increased apolipoprotein concentration","Increased apolipoprotein level","Increased apolipoprotein level in blood"],[25201]],[33461,"Elevated circulating 3-hydroxylinoleylcarnitine concentration",["Elevated plasma 3-OH-Linoleylcarnitine, C18:1-OH"],[35020]],[33462,"Elevated circulating oleylcarnitine concentration",["Elevated circulating C18:1 acylcarnitine concentration","Elevated plasma oleylcarnitine, C18:1"],[35020]],[33464,"Elevated circulating 3-hydroxypalmitoleylcarnitine concentration",["Elevated circulating 3-OH-palmitoleylcarnitine concentration","Elevated plasma 3-OH-Palmitoleylcarnitine, C16:1-OH"],[35021]],[33465,"Elevated circulating tetradecanoylcarnitine concentration",["Elevated circulating C14 carnitine concentration","Elevated circulating O-tetradecanoylcarnitine concentration","Elevated circulating myristoylcarnitine concentration","Elevated tetradecanoylcarnitine concentration","Elevated tetradecanoylcarnitine level","Elevated tetradecanoylcarnitine level in blood","Increased tetradecanoylcarnitine concentration","Increased tetradecanoylcarnitine level","Increased tetradecanoylcarnitine level in blood"],[35018]],[33466,"Weak grip",[],[30237]],[33467,"Low 10-minute APGAR score",[],[30917]],[33468,"10-minute APGAR score of 0",[],[33467]],[33469,"10-minute APGAR score of 1",[],[33467]],[33470,"10-minute APGAR score of 2",[],[33467]],[33471,"10-minute APGAR score of 3",[],[33467]],[33472,"10-minute APGAR score of 4",[],[33467]],[33473,"10-minute APGAR score of 5",[],[33467]],[33474,"10-minute APGAR score of 6",[],[33467]],[33475,"Limited shoulder abduction",[],[6467]],[33476,"Extractable nuclear antigen positivity",[],[3493]],[33477,"Abnormal circulating lipoprotein lipase concentration",[],[12379]],[33478,"Increased circulating lipoprotein lipase concentration",["Elevated lipoprotein lipase level"],[33477]],[33479,"Abnormal circulating bilirubin concentration",[],[10995]],[33480,"Hypobilirubinemia",[],[33479]],[33481,"Limited lateral neck flexion",[],[5986]],[33482,"Limited shoulder flexion",[],[6467]],[33483,"Podocyte infolding",[],[31265]],[33484,"Elevated circulating linoleylcarnitine concentration",["Elevated circulating C18:2 acylcarnitine concentration","Elevated plasma linoleylcarnitine, C18:2"],[35020]],[33485,"Glomerular basement membrane disruption",["Disruption of the glomerular basement membrane","Glomerular basement membrane rupture"],[33282]],[33486,"Abnormal glomerular basement membrane texture",[],[33282]],[33487,"Glomerular basement membranes powdery deposit",["Glomerular basement membranes with powdery deposit"],[33486]],[33488,"Glomerular endocapillary leukocyte hypercellularity",["Glomerular endocapillary hypercellularity consisting of leukocytes"],[25363]],[33489,"Glomerular endocapillary neutrophil hypercellularity",[],[33488]],[33490,"Glomerular endocapillary foam-cell hypercellularity",[],[33488]],[33491,"Global mesangial sclerosis",[],[33232]],[33492,"Podocyte cytoskeletal condensation",[],[31265]],[33493,"Mesangial matrix expansion",["Increased glomerular mesangial matrix"],[33232]],[33494,"Glomerular basement membrane amyloid spicule",[],[33282]],[33495,"Segmental glomerulosclerosis",[],[96]],[33496,"Perihilar segmental glomerulosclerosis",["Segmental glomerulosclerosis, perihilar pattern"],[33495]],[33497,"Tip variant segmental glomerulosclerosis",["Segmental glomerulosclerosis, tip variant"],[33495]],[33498,"Segmental glomerulosclerosis away from the vascular and tubular poles",[],[33495]],[33499,"Glomerular basement membrane electron dense deposits",[],[33282]],[33500,"Subendothelial glomerular basement membrane electron dense deposits",[],[33499]],[33501,"Subepithelial glomerular basement membrane electron dense deposits",[],[33499]],[33502,"Abnormal esterified to free carnitine ratio",[],[12071]],[33503,"Elevated CSF fumarate concentration",[],[25454]],[33504,"Elevated circulating fumarate concentration",[],[10995]],[33505,"Livedo reticularis",[],[33832]],[33506,"Increased esterified to free carnitine ratio",[],[33502]],[33507,"Decreased esterified to free carnitine ratio",[],[33502]],[33508,"EBV meningitis",["Epstein-Barr virus meningitis"],[31691,5210216]],[33509,"EBV encephalitis",["Epstein-Barr virus encephalitis"],[33993]],[33510,"Cutaneous horn",["Cornu cutaneum"],[11355]],[33511,"Addictive substance use",["Addictive drug use","Drug addiction"],[30858]],[33512,"Addictive stimulant use",["Stimulant addiction","Stimulant dependence"],[33511]],[33513,"Addictive cocaine use",["Cocaine addiction","Cocaine dependence"],[33512]],[33514,"Addictive amphetamine use",["Amphetamine addiction","Amphetamine dependence","Dextroamphetamine addiction","Dextroamphetamine dependence"],[33512]],[33515,"Addictive opioid use",["Opioid addiction","Opioid dependence"],[33511]],[33516,"Addictive benzodiazepine use",["Benzodiazepine dependence"],[5200331]],[33517,"Addictive heroin use",["Heroin addiction","Heroin dependence"],[33515]],[33518,"Addictive methylphenidate use",["Methylphenidate addiction","Methylphenidate dependence"],[33512]],[33519,"Addictive methamphetamine use",["Methamphetamine addiction","Methamphetamine dependence"],[33512]],[33520,"Paradoxical embolism",[],[1907]],[33521,"Nasal dryness",[],[433]],[33522,"Cerebral cavernous malformation",[],[1048,100659]],[33523,"Abnormal sperm principal piece morphology",[],[12868]],[33524,"Abnormal sperm axoneme morphology",[],[12864]],[33525,"Absent sperm axoneme central pair complex",["Absent central pair complex (9+0 pattern)"],[33524]],[33526,"Limited ankle dorsiflexion",["Heel cord tightness","Tight heel cord"],[10505]],[33527,"Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio",["Decreased plasma testosterone-to-androstenedione ratio"],[30347]],[33528,"Abnormal cardiac output",[],[11028]],[33529,"Abnormal cardiac index",[],[33528]],[33530,"Increased cardiac index",[],[33529]],[33531,"Decreased cardiac index",[],[33529]],[33532,"Decreased cardiac output",[],[33528]],[33533,"Increased cardiac output",[],[33528]],[33534,"Increased circulating brain natriuretic peptide concentration",["Elevated circulating BNP concentration","Increased B-type natriuretic peptide","Increased ventricular natriuretic peptide"],[31138]],[33535,"Reduced platelet dense granules",[],[12530]],[33536,"Reduced platelet alpha granules",[],[12528]],[33537,"Mosaic pulmonary attenuation pattern",[],[25389]],[33538,"Aortic annulus calcification",["Aortic annular calcification"],[4380]],[33539,"Bilateral apical pulmonary fibrosis",[],[2206]],[33540,"Reversible airflow obstruction",["Reversible pulmonary obstruction"],[6536]],[33541,"Irreversible airflow obstruction",["Irreversible pulmonary obstruction"],[6536]],[33542,"Bronchial wall thickening",["Peribronchial cuffing","Peribronchial thickening"],[25426]],[33543,"Addictive nicotine use",["Addictive tobacco use","Nicotine dependence"],[33511]],[33544,"Mesangial fibril deposition",[],[1966]],[33545,"Mesangial fibrillary deposits",[],[33544]],[33546,"Mesangial microfibril deposition",[],[33544]],[33547,"Mesangial immunotactoid deposits",[],[33544]],[33548,"Mesangial amyloid deposition",[],[33544]],[33549,"Nodular mesangiosclerosis",[],[33232]],[33550,"Necrotizing pulmonary granulomatosis",["Caseating pulmonary granulomatosis"],[30250,5210339]],[33551,"Non-necrotizing pulmonary granulomatosis",["Non-caseating pulmonary granulomatosis"],[30250,5210340]],[33552,"Chronic villitis",["Chronic villitis (non-infectious)","Nonspecific chronic villitis","Villitis of unknown aetiology","Villitis of unknown etiology"],[11409]],[33553,"Septic embolism",["Septic emboli"],[1907]],[33554,"Anti-Mi2 antibody positivity",[],[3493]],[33555,"Anti-Ro/SS-A antibody positivity",["Anti-Ro/SSA antibody positivity"],[33476]],[33556,"Anti-nucleoporin 62 antibody positivity",["Anti-p62 antibody positivity"],[3493]],[33557,"Anti-proteinase 3 antibody positivity",["Anti-PR3 antibody positivity"],[32230]],[33558,"Anti-histone antibody positivity",[],[20359]],[33559,"Anti-myeloperoxidase antibody positivity",["Anti-MPO antibody positivity","Anti-myeloperoxidase specific antineutrophil cytoplasmic antibody","MPO-ANCA"],[32229]],[33560,"Anti-PM-Scl antibody positivity",["Anti-PM/Scl antibody positivity"],[3493]],[33561,"Anti-bactericidal/permeability-increasing protein antibody positivity",["Anti-BPI antibody positivity"],[32230]],[33562,"Anti-glycoprotein-210 antibody positivity",["Anti-gp210 antibody positivity"],[30057]],[33563,"Anti-tissue transglutaminase antibody positivity",["Anti-tTG antibody positivity"],[30057]],[33564,"Stasis dermatitis",["Varicose eczema","Venous eczema"],[964]],[33565,"Anti-epidermal transglutaminase antibody positivity",["Anti-TG3 antibody","Anti-eTG antibody positivity","Anti-epidermal transglutaminase (anti-eTG) antibody","Anti-keratinocyte transglutaminase"],[33563]],[33566,"Abnormal ventricular axis",["Abnormal QRS axis"],[3115]],[33567,"Right axis deviation",["Electrical right axis deviation","RAD"],[33566]],[33568,"Left axis deviation",["Electrical left axis deviation"],[33566]],[33569,"Extreme axis deviation",[],[33566]],[33570,"Indeterminate ventricular axis",[],[33566]],[33571,"Peripheral lung neovascularity",[],[4930]],[33572,"Anti-H1 antibody positivity",[],[33558]],[33573,"Anti-H4 antibody positivity",[],[33558]],[33574,"Anti-H3 antibody positivity",[],[33558]],[33575,"Anti-H2A antibody positivity",[],[33558]],[33576,"Anti-H2B antibody positivity",[],[33558]],[33577,"In situ pulmonary artery thrombosis",[],[30966]],[33578,"Pre-capillary pulmonary hypertension",["Precapillary pulmonary hypertension"],[4890]],[33579,"Decreased growth hormone responses to growth hormone-releasing hormone challenge",["Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge"],[824]],[33580,"Compound motor action potential abnormality",[],[40131]],[33581,"Absent peripheral lymph nodes in presence of infection",[],[2733]],[33582,"Pulmonary interstitial lymphocyte infiltration",[],[6530]],[33583,"Follicular bronchiolitis",[],[33582]],[33584,"Nonspecific interstitial pneumonia",["NSIP","Nonspecific interstitial pneumonitis","Temporally uniform pulmonary inflammation"],[6515]],[33585,"Fibrotic non-specific interstitial pneumonia",[],[33584]],[33586,"Cellular non-specific interstitial pneumonia",[],[33584]],[33587,"Vulvar abscess",[],[25615]],[33588,"Labial adhesion",["Labial agglutination","Synechia vulvae"],[12881]],[33589,"Flatulence",[],[11458]],[33590,"Inguinal abscess",["Groin abscess"],[25615]],[33591,"Staghorn calculus",["Staghorn renal stone"],[787]],[33592,"Anti-H3-H4 antibody positivity",[],[33558]],[33593,"Anti-H2A-H2B antibody positivity",[],[33558]],[33594,"Elevated urinary 7-biopterin level",["Primapterinuria"],[40416]],[33595,"Elevated circulating globotriaosylceramide concentration",["Elevated circulating ceramidetrihexoside concentration"],[4343]],[33596,"Elevated urinary 3-methylcrotonylglycine level",[],[40156]],[33597,"Decreased mucosal sucrase-isomaltase activity",[],[12379]],[33598,"Fibrillar glomerular subepithelial deposits",[],[33603]],[33599,"Glomerular amyloid subepithelial deposits",[],[33598]],[33600,"Fibrillary glomerular subepithelial deposits",[],[33598]],[33601,"Glomerular subepithelial immune-complex deposits",[],[33603]],[33602,"Glomerular hyaline subepithelial deposits",[],[33603]],[33603,"Glomerular subepithelial deposits",[],[30949]],[33604,"Glomerular capillary wire loop deposits",[],[30949]],[33605,"Pustular rash",["Pustulosis"],[988]],[33606,"Bone marrow maturation arrest",["Haematopoietic maturation arrest","Hematopoietic maturation arrest"],[5561]],[33607,"Bone marrow arrest at the promyelocytic stage",[],[33606]],[33608,"Pulmonary nodule",["Spot on the lung"],[31983]],[33609,"Solid pulmonary nodule",[],[33608]],[33610,"Subsolid pulmonary nodule",[],[33608]],[33611,"Part-solid pulmonary nodule",[],[33610]],[33612,"Pure ground-glass pulmonary nodule",[],[33610]],[33613,"Perifissural pulmonary nodule",[],[33608]],[33614,"Tracheal bronchus",[],[25426]],[33615,"Displaced tracheal bronchus",[],[33614]],[33616,"Accessory cardiac bronchus",[],[25426]],[33617,"Supernumerary tracheal bronchus",[],[33614]],[33618,"Displaced lobar tracheal bronchus",["Bronchus suis","Pig bronchus"],[33614]],[33619,"Typical perifissural nodule",[],[33613]],[33620,"Atypical perifissural nodule",[],[33613]],[33621,"Bronchial diverticula",[],[25426]],[33622,"Migratory erythematous plaque",[],[10783]],[33623,"Birth history",[],[32443]],[33624,"History of congenital CMV infection",["History of congenital cytomegalovirus infection"],[33623]],[33625,"Emotional insecurity",[],[20007,31466,5200230]],[33626,"Increased non-HDL cholesterol concentration",["Elevated non-HDL cholesterol concentration"],[3107]],[33627,"Increased urine harderoporphyrin level",[],[10473]],[33628,"Bowel irritability",[],[11458]],[33629,"IgG4 autoimmune antibody positivity",[],[30057]],[33630,"Brain fog",["Mental clouding","Mental fatigue","Mental fog"],[100543]],[33631,"Spondylitis",[],[925]],[33632,"Abnormal alveolar volume",[],[30878]],[33633,"Decreased alveolar volume",[],[33632]],[33634,"Increased alveolar volume",[],[33632]],[33635,"Post-capillary pulmonary hypertension",["Postcapillary pulmonary hypertension"],[4890]],[33636,"Combined pre- and post-capillary pulmonary hypertension",[],[4890]],[33637,"Anti-endomysial antibody positivity",["Anti-transglutaminase 2 antibody positivity"],[33563]],[33638,"Intralobular septal thickening",["Intralobular lines"],[33711]],[33639,"Septic pulmonary embolism",["Septic pulmonary emboli"],[33553]],[33640,"Acetabular erosions",[],[3170]],[33641,"Aortic valve leaflet calcification",["Aortic cusp calcification","Aortic valve cusp calcification"],[4380]],[33642,"Mitral valve leaflet calcification",[],[4382]],[33643,"Increased circulating very long-chain fatty acid concentration",["Increased plasma levels of very long-chain fatty acid"],[4359]],[33644,"Elevated circulating erythropoietin concentration",["Elevated circulating erythropoietin"],[34442]],[33645,"Midline brainstem cleft",[],[2363]],[33646,"Absent hippocampal commissure",["Agenesis of the hippocampal commissure"],[25100]],[33647,"Silhouette sign",[],[33775]],[33648,"Pulmonary pseudocavity",[],[31983]],[33649,"Paraseptal emphysema",["Distal acinar emphysema"],[2097]],[33650,"Pulmonary parenchymal band",[],[31457]],[33651,"Pulmonary mycetoma",["Lung fungus ball"],[31983]],[33652,"Broncholith",[],[25426,31983]],[33653,"Bronchocele",[],[25426,31983]],[33654,"Beaded septum sign",[],[31983]],[33655,"Pulmonary cavity",["Pulmonary cavern","Pulmonary cavitation"],[31983]],[33656,"Juxtaphrenic peak",[],[31457]],[33657,"Linear atelectasis",["Discoid atelectasis","Platelike atelectasis"],[100750]],[33658,"Rounded atelectasis",["Blesovsky syndrome","Comet tail sign","Folded lung syndrome","Helical atelectasis","Pleural pseudotumor","Pleuroma"],[100750]],[33660,"Hand paresthesia",["Hand tingling"],[31006]],[33661,"Air crescent",["Air crescent sign"],[31983]],[33662,"Air bronchogram",[],[31983]],[33663,"Air trapping",[],[31983]],[33664,"Ganglioglioma",[],[25170]],[33665,"Diminished health-related quality of life",[],[25142]],[33666,"Diminished physical functioning",["Decline in physical functional health","Diminished physical health"],[33665]],[33667,"Diminished mental health",["Mental impairment","Reduced mental health"],[33665]],[33668,"Abnormal amygdala morphology",["Abnormal morphology of the amygdala"],[7343]],[33669,"Enlarged amygdala",["Amygdalar enlargement"],[33668]],[33670,"Organizing pneumonia",[],[31983]],[33671,"Pulmonary oligemia",[],[31983]],[33672,"Positive carpal Tinel sign",["Positive carpal Hoffmann Tinel sign"],[32120]],[33673,"Positive Phalen test",["Phalen maneuver","Phalen manoeuvre"],[32120]],[33674,"Pulmonary blood flow redistribution",[],[31983]],[33675,"Frailty",[],[25142]],[33676,"Posttraumatic stress symptom",["PTSD"],[5200230]],[33677,"Acute respiratory distress syndrome",["ARDS"],[4887,5210123]],[33678,"Acute coronary syndrome",[],[11025]],[33679,"Abnormal red nucleus morphology",[],[2418]],[33680,"Pilocytic astrocytoma",[],[9592]],[33681,"Oligodendroglioma",[],[9733]],[33682,"Pleomorphic xanthoastrocytoma",[],[9592]],[33683,"Jaw hyperreflexia",["Brisk jaw jerk"],[1347]],[33684,"Abnormal muscle fiber-type distribution",[],[4303]],[33685,"Fiber type grouping",["Fibre type grouping"],[33684]],[33686,"Mitochondrial hypertrophy",["Megamitochondria"],[12087]],[33687,"Short term memory impairment",["Short term memory loss"],[2354]],[33688,"Long term memory impairment",["Long term memory loss"],[2354]],[33689,"Anterograde memory impairment",["Anterograde amnesia"],[33688]],[33690,"Retrograde memory impairment",["Retrograde amnesia"],[33688]],[33691,"Procedural memory loss",["Impaired procedural memory","Procedural memory deficit"],[33690]],[33692,"Declarative memory loss",["Impaired declarative memory"],[33690]],[33693,"Phantosmia",["Phantom odor","Phantom odour","Phantom smell"],[4408]],[33694,"Tactile hallucination",["Tactile hallucinations"],[5200214]],[33695,"Occupational disability",[],[25142]],[33696,"Pseudo-chilblain",["Chilblain-like lesion"],[11123]],[33697,"Vesicular eruption",[],[988]],[33698,"Monomorphic vesicular eruption",[],[33697]],[33699,"Polymorphic vesicular eruption",[],[33697]],[33700,"Papulovesicular eruption",["Papulo-vesicular eruption"],[988]],[33701,"Cortical sclerosis of the iliac wing",[],[11867]],[33702,"Subpleural curvilinear line",[],[31457,31630]],[33703,"Dysembryoplastic neuroepithelial tumor",["DNET","DNT"],[25170]],[33704,"Elevated urinary homogentisic acid",[],[33303]],[33705,"Tearfulness",["Crying episodes"],[5200261]],[33706,"Progressive massive fibrosis",[],[31983]],[33707,"Perioral hyperkeratosis",[],[34521]],[33708,"Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity",["Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibodies","Anti-HMGCR autoantibodies"],[30057]],[33709,"Increased sputum production",["Increased phlegm"],[32016]],[33710,"Rest dyspnea",["Breathlessness at rest","Dyspnea at rest","Dyspnoea at rest","Shortness of breath at rest"],[2094]],[33711,"Pulmonary interstitial thickening",[],[25389]],[33712,"Repeated implantation failure",["Recurrent implantation failure"],[33335]],[33713,"Anti-signal recognition particle antibody positivity",["Anti-SRP antibody positivity"],[30057]],[33714,"Multiple meningiomas",["Multifocal meningiomata","Multiple meningiomata"],[2858]],[33715,"Hippocampal sclerosis",["Mesial temporal sclerosis"],[2171,25100]],[33716,"EEG with frontal epileptiform discharges",[],[11185]],[33717,"EEG with temporal epileptiform discharges",[],[11185]],[33718,"EEG with central epileptiform discharges",[],[11185]],[33719,"EEG with parietal epileptiform discharges",[],[11185]],[33720,"EEG with occipital epileptiform discharges",[],[11185]],[33721,"EEG with centrotemporal epileptiform discharges",[],[11185]],[33722,"Autonomic epileptic aura",["Autonomic aura","Autonomic auras","Vegetative aura"],[11154,33348]],[33723,"Abnormal cerebral venous sinus morphology",["Abnormal dural venous sinus morphology","Abnormality of the cerebral venous sinuses"],[12480]],[33724,"Cerebral venous sinus thrombosis",[],[4936,33723]],[33725,"Thin corpus callosum",["Small corpus callosum","Thinning of the corpus callosum"],[1273]],[33726,"Lupus nephritis",[],[99]],[33727,"Diffuse lupus nephritis",["Class IV lupus nephritis"],[33726]],[33728,"Mesangial proliferative lupus nephritis",["Class II lupus nephritis"],[33726]],[33729,"Minimal mesangial lupus nephritis",["Class I lupus nephritis"],[33726]],[33730,"Membranous lupus nephritis",["Class V lupus nephritis"],[33726]],[33731,"Focal lupus nephritis",["Class III lupus nephritis"],[33726]],[33732,"Advanced sclerotic lupus nephritis",["Class VI lupus nephritis"],[33726]],[33733,"Low-grade vesicoureteral reflux",[],[76]],[33734,"High-grade vesicoureteral reflux",[],[76]],[33735,"Grade I vesicoureteral reflux",["Grade I VUR","VUR I"],[33733]],[33736,"Grade II vesicoureteral reflux",["Grade II VUR","VUR II"],[33733]],[33737,"Grade III vesicoureteral reflux",["Grade III VUR","VUR III"],[33734]],[33738,"Primary vesicoureteral reflux",[],[76]],[33739,"Secondary vesicoureteral reflux",[],[76]],[33740,"Grade V vesicoureteral reflux",["Grade V VUR","VUR V"],[33734]],[33741,"Grade IV vesicoureteral reflux",["Grade IV VUR","VUR IV"],[33734]],[33742,"Intrarenal reflux",[],[33734]],[33743,"Macular agenesis",[],[8059]],[33744,"Global cerebellar dysplasia",[],[7033]],[33745,"Dysplasia of the superior cerebellar vermis",[],[2334,7033]],[33746,"Intrascapular pain",["Pain between shoulder blades"],[3418]],[33747,"Abnormal exteroceptive sensation",[],[3474]],[33748,"Hypoesthesia",["Hypoaesthesia","Numbness"],[33747]],[33749,"Abnormal functional residual capacity",[],[30878]],[33750,"Reduced functional residual capacity",[],[33749]],[33751,"Elevated functional residual capacity",[],[33749]],[33752,"Abnormal residual volume",[],[30878]],[33753,"Reduced residual volume",[],[33752]],[33754,"Abnormal left ventricular end-diastolic volume",[],[5162]],[33755,"Increased left ventricular end-diastolic volume",[],[33754]],[33756,"Decreased left ventricular end-diastolic volume",[],[33754]],[33757,"Pancreatic steatosis",["Fatty pancreas","Non-alcoholic fatty pancreatic disease","Pancreatic fatty infiltration","Pancreatic fatty replacement","Pancreatic lipomatosis","Pancreatic lipomatous pseudohypertrophy"],[12090]],[33758,"Labial abscess",["Abscess of the labia"],[33587]],[33759,"Impaired renal tubular reabsorption of magnesium",[],[11038]],[33760,"Decreased maximal oxygen uptake",[],[30878]],[33761,"Xanthogranulomatous pyelonephritis",[],[12330]],[33762,"Middle cerebral artery stroke",[],[1297]],[33763,"Death in adulthood",[],[11420]],[33764,"Death in middle age",[],[33763]],[33765,"Death in late adulthood",[],[33763]],[33766,"Polymelia",[],[40064]],[33767,"Abnormal single motor unit action potential",[],[3457]],[33768,"Penile thrush",["Penile candidiasis"],[36]],[33769,"Fundic gland polyposis",["Fundic gland polyps","Gastric polyposis","Proximal polyposis of the stomach"],[6753]],[33770,"Gastric adenocarcinoma",[],[6753]],[33771,"Pleuritic chest pain",[],[100749]],[33772,"Abnormal RV/TLC ratio",[],[30878]],[33773,"Decreased RV/TLC ratio",[],[33772]],[33774,"Impaired renal tubular reabsorption of uric acid",[],[11038]],[33775,"Pulmonary imaging sign",[],[31983]],[33776,"Enamel pearls",[],[682]],[33777,"Supernumerary cusp",["Additional cusp","Extra cusp"],[11063]],[33778,"Leung cusp",[],[33777]],[33779,"Barrel-shaped tooth",[],[6482]],[33780,"Bulbous tooth",[],[6482]],[33781,"Tapered tooth",[],[11063]],[33782,"Semilunar tooth",["Crescent-shape tooth","Hutchinson incisor","Semicircular tooth","Tooth, semilunar"],[11063]],[33783,"Molar incisor malformation",[],[11070]],[33784,"Dentin dysplasia",[],[10299]],[33785,"Enamel agenesis",[],[682]],[33786,"Hypomature enamel",["Enamel opacity"],[682]],[33787,"Cementum hypoplasia",["Cementum aplasia"],[100717]],[33788,"Cementum overgrowth",["Cementation hyperplasia","Cementum hypertrophy","Cementum overdeveloped","Drumstick-shaped root","Hypercementosis"],[100717]],[33789,"Triggered by cheese ingestion",[],[33793]],[33790,"Thistle tube shaped pulp",["Flame-shaped pulp"],[6479]],[33791,"Tooth ankylosis",[],[6482]],[33792,"Cross bite",[],[692]],[33793,"Triggered by food ingestion",[],[25204]],[33794,"Acral overgrowth",["Acral enlargement","Acral hypertrophy","Acromegalic growth","Acromegaly"],[1507]],[33795,"Growth without growth hormone",[],[1507]],[33796,"Abnormal leukocyte physiology",[],[1871,10978]],[33797,"Leukocyte migration defect",["Abnormal leukocyte migration","Defects of leukocyte migration"],[33796]],[33799,"Abnormal circulating sex hormone concentration",["Abnormal circulating gonadal steroid concentration","Abnormal circulating gonadocorticoid concentration","Abnormal circulating sex steroid concentration"],[3117]],[33800,"Blistering by anatomical location",[],[8066]],[33801,"Blistering by histological location",[],[8066]],[33802,"Intra-epidermal blistering",[],[33801]],[33803,"Sub-lamina densa cleavage",["Blistering with sub-lamina densa plane of cleavage"],[33804]],[33804,"Subepidermal blistering",[],[33801]],[33805,"Non-necrotizing granuloma",[],[32252]],[33806,"Abnormal epidermis stratum granulosum morphology",[],[11124]],[33807,"Absent keratohyalin granules",[],[33806]],[33808,"Spermatocele",[],[9714]],[33809,"Increased circulating 17 hydroxypregnenolone concentration",[],[31187]],[33810,"Decreased circulating dihydrotestosterone concentration",[],[30349]],[33811,"Abnormal circulating androstenedione concentration",[],[30347]],[33812,"Decreased circulating androstenedione concentration",[],[33811]],[33813,"Perilobular",[],[12836]],[33814,"Paraseptal",[],[12836]],[33815,"Bronchocentric",[],[12836]],[33816,"Centrilobular",[],[12836]],[33817,"Miliary",[],[12836]],[33818,"Reticular",[],[12836]],[33819,"Perilymphatic",[],[12836]],[33820,"Apical",[],[12836]],[33821,"Pulmonary mass",[],[33822]],[33822,"Mass on thoracic imaging",[],[31983]],[33823,"Mediastinal mass",[],[33822]],[33824,"Pleural mass",[],[33822]],[33825,"Superior mediastinal mass",[],[33823]],[33826,"Inferior mediastinal mass",[],[33823]],[33827,"Anterior mediastinal mass",[],[33826]],[33828,"Middle mediastinal mass",[],[33826]],[33829,"Posterior mediastinal mass",[],[33826]],[33830,"Hyperdense pulmonary mass",[],[33821]],[33831,"Cavitating pulmonary mass",[],[33655,33821]],[33832,"Livedo",["Livedoid dermatitis"],[11276]],[33833,"Elevated circulating sCD25 concentration",["Elevated circulating interleukin-2 receptor alpha-chain"],[10876]],[33834,"Malaise",[],[25142]],[33835,"Abnormal renal vascular morphology",[],[12210]],[33836,"Abnormal intrarenal artery morphology",["Abnormal kidney arterial blood vessel morphology"],[33835]],[33837,"Abnormal arcuate artery morphology",["Abnormalities of arcuate arteries"],[33836]],[33838,"Dysphoria",["Emotional discomfort","Emotional discontent","Emotional discord","Emotionally unsettled","Feeling off inside","Ill at ease","Emotional unrest","Psychological unease"],[31467]],[33839,"Testicular pain",["Pain in testicles"],[12531]],[33840,"Postmenopausal bleeding",[],[30012]],[33841,"Ocular pruritus",["Itchy eyes","Ocular itch"],[989]],[33842,"Early satiety",["Feeling full quickly when eating","Not able to finish a normal-sized meal"],[11458]],[33843,"Postprandial fullness",[],[11458]],[33844,"Racing thoughts",["Tachyphrenia"],[25781]],[33845,"Sense of impending doom",["Sense of doom"],[5200401]],[33846,"Spinal hypomyelination",[],[3429]],[33847,"Phantageusia",["Phantom taste"],[223]],[33848,"Receptive aphasia",["Fluent aphasia","Wernicke aphasia"],[2381]],[33849,"Bilingual aphasia",[],[2381]],[33850,"Coldness",["Cold skin temperature","Cool skin","Cool skin temperature","Coolness to palpation"],[25142]],[33851,"Oculomotor synkinesis",[],[496]],[33852,"Abnormal intrarenal vein morphology",[],[33835]],[33853,"Abnormal arcuate vein morphology",[],[33852]],[33854,"Abnormal interlobular vein morphology",[],[33852]],[33855,"Abnormal interlobular vein lumen morphology",["Abnormal morphology of the interlobular vein lumen"],[33854]],[33856,"Cholesterol emboli within interlobular vein lumen",[],[33855]],[33857,"Intraluminal thrombi within interlobular veins",[],[33855]],[33858,"Organized thrombi within interlobular vein lumen",[],[33855]],[33859,"Abnormal peritubular capillary morphology",[],[33835]],[33860,"Abnormal cortical peritubular capillary morphology",[],[33859]],[33861,"Multilamellation of cortical peritubular capillary basement membranes",["Multilamellation of basement membranes within cortical peritubular capillaries"],[33860]],[33862,"Cortical peritubular capillaritis",[],[33860]],[33863,"Abnormal cortical peritubular capillary lumen morphology",[],[33860]],[33864,"Abnormal medullary peritubular capillary morphology",[],[33859]],[33865,"Medullary peritubular capillaritis",[],[33864]],[33866,"Medullary peritubular capillary erythrocyte congestion",[],[33864]],[33867,"Multilamellation of medullary peritubular capillary basement membranes",["Multilamellation of basement membranes within medullary peritubular capillaries"],[33864]],[33868,"Abnormal medullary peritubular capillary lumen morphology",[],[33864]],[33869,"Medullary peritubular capillary lumen cholesterol emboli",["Cholesterol emboli within the medullary peritubular capillary lumen"],[33868]],[33870,"Medullary peritubular capillary intraluminal thrombi",["Intraluminal thrombi within medullary peritubular capillaries"],[33868]],[33871,"Medullary peritubular capillary lumen organized thrombi",["Organised thrombi within the medullary peritubular capillary lumen","Organized thrombi within the medullary peritubular capillary lumen"],[33868]],[33872,"Cortical peritubular capillary lumen cholesterol emboli",[],[33863]],[33873,"Cortical peritubular capillary intraluminal thrombi",["Intraluminal thrombi within cortical peritubular capillaries"],[33863]],[33874,"Cortical peritubular capillary lumen organized thrombi",[],[33863]],[33875,"Abnormal arcuate vein lumen morphology",[],[33853]],[33876,"Arcuate vein lumen cholesterol emboli",["Cholesterol emboli within arcuate vein lumen"],[33875]],[33877,"Arcuate vein intraluminal thrombi",["Intraluminal thrombi within arcuate veins"],[33875]],[33878,"Arcuate vein lumen organized thrombi",["Organised thrombi within arcuate vein lumen","Organized thrombi within arcuate vein lumen"],[33875]],[33879,"Abnormal arcuate vein intima/media morphology",[],[33853]],[33880,"Arcuate vein intimal mucoid edema",["Intimal mucoid edema within arcuate veins","Intimal mucoid oedema within arcuate veins"],[33879]],[33881,"Arcuate vein intimal/medial myxomatous degeneration",["Myxomatous change within arcuate vein intima/media"],[33879]],[33882,"Arcuate vein intima/medial amyloidosis",["Amyloidosis within arcuate vein intima/media"],[33879]],[33883,"Abnormal cortical radial artery morphology",["Abnormal interlobular artery morphology"],[33836]],[33884,"Abnormal cortical radial artery lumen morphology",["Abnormal interlobular arterial lumen morphology"],[33883]],[33885,"Cortical radial artery lumen cholesterol emboli",[],[33884]],[33886,"Abnormal arcuate artery intima/media morphology",["Abnormalities of the arcuate arterial intima/media"],[33837]],[33887,"Cortical radial artery intimal/medial amyloidosis",["Amyloidosis within interlobular arterial intima/media","Interlobular arterial intima/media amyloidosis"],[33888]],[33888,"Abnormal cortical radial artery intima/media morphology",["Abnormalities of the interlobular arterial intima/media"],[33883]],[33889,"Abnormal renal arteriole morphology",[],[33835]],[33890,"Abnormal renal arteriole lumen morphology",[],[33889]],[33891,"Renal arteriolar lumen cholesterol emboli",["Cholesterol emboli within the arteriolar lumen"],[33890]],[33892,"Abnormal renal arteriole intima/media morphology",[],[33889]],[33893,"Renal arteriolar lumen organized thrombi",[],[33890]],[33894,"Renal arteriolar intraluminal thrombi",[],[33890]],[33895,"Abnormal renal arteriole endothelium morphology",[],[33889]],[33896,"Abnormal arcuate artery lumen morphology",["Abnormalities of the arcuate arterial lumen"],[33837]],[33897,"Arcuate artery lumen cholesterol emboli",["Cholesterol emboli within arcuate arterial lumen"],[33896]],[33898,"Arcuate artery intraluminal thrombi",["Intraluminal thrombi within arcuate arterial lumen"],[33896]],[33899,"Arcuate artery lumen organized thrombi",["Organised thrombi within arcuate arterial lumen","Organized thrombi within arcuate arterial lumen"],[33896]],[33900,"Renal arteriole intima/media amyloidosis",["Amyloidosis within renal arteriolar intima/media"],[33892]],[33901,"Abnormal arcuate artery endothelium morphology",[],[33837]],[33902,"Arcuate artery endotheliosis",["Endotheliosis within arcuate arteries"],[33901]],[33903,"Arcuate artery endoarterial hypercellularity",["Endoarterial hypercellularity within arcuate artery"],[33901]],[33904,"Renal arteriole intima/media hyalinosis",[],[33892]],[33905,"Arcuate artery intima/media arteriosclerosis",["Arteriosclerosis within arcuate arterial intima/media"],[33886]],[33906,"Renal intimal/medial arteriolitis",[],[33892]],[33907,"Renal arteriole intima/media arteriolosclerosis",[],[33892]],[33908,"Renal arteriole medial atrophy",[],[33892]],[33909,"Arcuate vein medial hypertrophy",["Medial hypertrophy within arcuate veins"],[33879]],[33910,"Arcuate vein medial atrophy",["Medial atrophy within arcuate veins"],[33879]],[33911,"Cortical radial artery medial hypertrophy",["Interlobular artery medial hypertrophy","Medial hypertrophy within interlobular arteries"],[33888]],[33912,"Cortical radial artery medial atrophy",["Interlobular artery medial atrophy","Medial atrophy within interlobular arteries"],[33888]],[33913,"Cortical radial artery medial/intimal arteriitis",["Arteritis within interlobular arterial intima/media","Interlobular artery medial/intimal arteriitis"],[33888]],[33914,"Arcuate artery intima/media amyloidosis",["Amyloidosis within arcuate arterial intima/media"],[33886]],[33915,"Arcuate artery intimal mucoid edema",[],[33886]],[33916,"Medial/intimal arcuate venosclerosis",[],[33879]],[33917,"Arcuate intimal/medial venulitis",["Medial/intimal arcuate venulitis","Venulitis within arcuate vein intima/media"],[33879]],[33918,"Renal arteriole medial hypertrophy",["Medial hypertrophy within arterioles"],[33892]],[33920,"Renal arteriole intima/media storage material accumulation",["Accumulated storage material within arteriolar intima/media"],[33892]],[33921,"Renal arteriole endoarterial hypercellularity",["Endoarterial hypercellularity within arterioles"],[33895]],[33922,"Renal arteriole leukocytic endoarterial hypercellularity",[],[33921]],[33923,"Renal arteriole foam cell endoarterial hypercellularity",["Endoarterial hypercellularity within arterioles consisting of foam cells"],[33922]],[33924,"Renal arteriole neutrophil endoarterial hypercellularity",["Endoarterial hypercellularity within arterioles consisting of neutrophils"],[33922]],[33925,"Renal arteriole lymphocyte endoarterial hypercellularity",["Endoarterial hypercellularity within arterioles consisting of lymphocytes"],[33922]],[33926,"Renal arteriole intimal/medial multilamellation",["Multilamellation (onion skinning) within renal arteriole intima/media","Renal arteriole intima/media multilamellation","Renal arteriole intimal/medial onion skinning"],[33892]],[33927,"Arcuate artery endoarterial leukocyte hypercellularity",["Endoarterial hypercellularity within arcuate artery consisting of leukocytes"],[33903]],[33928,"Arcuate artery endoarterial foam cell hypercellularity",["Endoarterial hypercellularity within arcuate artery consisting of foam cells"],[33927]],[33929,"Arcuate artery endoarterial neutrophil hypercellularity",["Endoarterial hypercellularity within arcuate artery consisting of neutrophils"],[33927]],[33930,"Arcuate artery endoarterial lymphocyte hypercellularity",["Endoarterial hypercellularity within arcuate artery consisting of lymphocytes"],[33927]],[33931,"Arcuate artery intima/media necrosis",[],[33886]],[33932,"Arcuate artery intima/media coagulative necrosis",["Coagulative necrosis within interlobular arterial intima/media"],[33931]],[33933,"Arcuate artery intima/media liquefactive necrosis",["Liquefactive necrosis of the arcuate artery intima/media"],[33931]],[33934,"Arcuate vein intimal/medial storage material accumulation",["Multilamellation (onion skinning) within arteriolar intima/media","Renal arteriole intima/media onion skinning"],[33879]],[33935,"Cortical radial artery intima/media necrosis",["Necrosis within interlobular arterial intima/media"],[33888]],[33936,"Cortical radial artery intima/media liquefactive necrosis",["Liquefactive necrosis within interlobular arterial intima/media"],[33935]],[33937,"Cortical radial artery intima/media coagulative necrosis",[],[33935]],[33938,"Renal arteriole intima/media necrosis",[],[33892]],[33939,"Renal arteriole intima/media liquefactive necrosis",["Liquefactive necrosis of the renal arteriolar intima/media"],[33938]],[33940,"Renal arteriole intima/media coagulative necrosis",[],[33938]],[33941,"Granulomatous arteriolitis of the arteriolar intima/media",["Granulomatous arteriolitis within arteriolar intima/media"],[33906]],[33942,"Arcuate vein medial/intimal necrosis",["Necrosis within arcuate vein intima/media"],[33879]],[33943,"Arcuate vein medial/intimal coagulative necrosis",["Coagulative necrosis within arcuate vein intima/media"],[33942]],[33944,"Arcuate vein medial/intimal liquefactive necrosis",["Liquefactive necrosis within arcuate vein intima/media"],[33942]],[33945,"Arcuate intimal/medial granulomatous venulitis",[],[33917]],[33946,"Arcuate vein intima/media crystal accumulation",[],[33879]],[33947,"Renal arteriole intima/media crystal accumulation",["Accumulated crystals within renal arteriolar intima/media"],[33892]],[33948,"Arcuate artery intima/media arteriitis",["Arteritis within arcuate arterial intima/media"],[33886]],[33949,"Arcuate artery intima/media granulomatous arteriitis",["Granulomatous arteritis within arcuate arterial intima/media"],[33948]],[33950,"Cortical radial artery intraluminal thrombi",["Intraluminal thrombi within interlobular arterial lumen"],[33884]],[33951,"Cortical radial artery intraluminal organized thrombi",["Organised thrombi within interlobular arterial lumen","Organized thrombi within interlobular arterial lumen"],[33950]],[33952,"Abnormal cortical radial artery endothelium morphology",["Abnormalities of the interlobular arterial endothelium"],[33883]],[33953,"Cortical radial artery endotheliosis",["Endotheliosis within interlobular arteries"],[33952]],[33954,"Cortical radial artery hypercellularity",["Endoarterial hypercellularity within interlobular artery"],[33952]],[33955,"Cortical radial artery leukocyte hypercellularity",["Endoarterial hypercellularity within interlobular artery consisting of leukocytes"],[33954]],[33956,"Cortical radial artery lymphocyte hypercellularity",["Endoarterial hypercellularity within interlobular artery consisting of lymphocytes"],[33955]],[33957,"Cortical radial artery neutrophil hypercellularity",["Endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils"],[33955]],[33958,"Cortical radial artery foam cell hypercellularity",["Endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells"],[33955]],[33959,"Cortical radial artery intima/media arteriosclerosis",["Arteriosclerosis within interlobular arterial intima/media"],[33888]],[33960,"Cortical radial artery intimal mucoid edema",["Intimal mucoid edema within interlobular arterial intima/media","Intimal mucoid oedema within interlobular arterial intima/media"],[33888]],[33961,"Cortical radial artery intima/media multilamellation",["Cortical radial artery intima/media onion skinning","Multilamellation (onion skinning) within interlobular arterial intima/media"],[33888]],[33962,"Cortical radial artery medial/intimal granulomatous arteriitis",[],[33913]],[33963,"Abnormal interlobular vein intima/media morphology",[],[33854]],[33964,"Interlobular intima/media venosclerosis",["Venosclerosis within interlobular vein intima/media"],[33963]],[33965,"Interlobular vein intimal mucoid edema",["Intimal mucoid edema within interlobular veins","Intimal mucoid oedema within interlobular veins"],[33963]],[33966,"Interlobular vein intima/media amyloidosis",["Amyloidosis within interlobular vein intima/media"],[33963]],[33967,"Interlobular vein intima/media venulitis",["Venulitis within interlobular vein intima/media"],[33963]],[33968,"Interlobular vein intima/media granulomatous venulitis",["Granulomatous venulitis within interlobular vein intima/media"],[33967]],[33969,"Interlobular vein intima/media necrosis",["Necrosis within interlobular vein intima/media"],[33963]],[33970,"Interlobular vein intima/media liquefactive necrosis",["Liquefactive necrosis within interlobular vein intima/media"],[33969]],[33971,"Interlobular vein intima/media coagulative necrosis",[],[33969]],[33972,"Interlobular vein medial atrophy",["Medial atrophy within interlobular veins"],[33963]],[33973,"Interlobular vein medial hypertrophy",["Medial hypertrophy within interlobular veins"],[33963]],[33974,"Interlobular vein intima/media multilamellation",["Interlobular vein intima/media onion skinning","Multilamellation (onion skinning) within interlobular vein intima/media"],[33963]],[33975,"Absent second fingernail",[],[1817]],[33976,"Volar fingernail",["Palmar fingernail","Ventral fingernail"],[1231]],[33977,"Talar aplasia",["Absent talus","Talus aplasia"],[8365]],[33978,"Reduced beta-hexosaminidase B activity",["Hexosaminidase B low in blood"],[12379]],[33979,"Excessive dynamic airway collapse",["Membranous tracheobronchomalacia"],[2786]],[33980,"Paroxysmal tonic upgaze",[],[496]],[33981,"Vertebral artery tortuosity",["Tortuous vertebral arteries"],[5116,30321]],[33982,"Celiac artery dissection",[],[12326]],[33983,"Decreased circulating apolipoprotein C-II concentration",["Decreased apolipoprotein C-II concentration","Decreased apolipoprotein C-II level","Decreased apolipoprotein C-II level in blood","Decreased plasma apolipoprotein C-II","Reduced apolipoprotein C-II concentration","Reduced apolipoprotein C-II level","Reduced apolipoprotein C-II level in blood"],[33459]],[33984,"Increased urinary 8-oxo-7,8-dihydroguanosine level",["Increased urinary 8-oxo-7,8-dihydroguanosine","Increased urinary 8-oxo-Gsn level","Increased urine 8-oxo-7,8-dihydroguanosine","Increased urine 8-oxo-GMP"],[33161]],[33985,"Elongated femoral neck",["Long femoral neck"],[3367]],[33986,"Tortuous lymphatic vessels",["Tortuous lymphatics"],[100766]],[33987,"Phosphaturic mesenchymal tumor",[],[31459]],[33988,"Amygdala microinfarct",[],[33668]],[33989,"Hippocampal microinfarct",[],[25100]],[33990,"Cartilaginous tracheobronchomalacia",["Cartilaginous malacia"],[2786]],[33991,"Vasa previa",[],[11418]],[33992,"Chronotropic incompetence",[],[11025]],[33993,"Viral encephalitis",[],[2383,32169,34317]],[33994,"Dependency on parenteral nutrition",[],[11968]],[33995,"Microvillus inclusions",[],[11472]],[33996,"Microvillar PAS-positive secretory granules",[],[11472]],[33997,"Perinuclear cardiomyocyte vacuolization",[],[31331]],[33998,"Single-lobed right lung",[],[2101]],[33999,"Bronchial hemorrhage",["Bronchial bleeding"],[25426]],[34000,"Tracheal hemorrhage",["Tracheal bleeding"],[2778]],[34001,"Anti-Complement factor H antibody positivity",["CFH autoantibodies"],[6001536]],[34002,"Anti-phospholipase A2 receptor antibody positivity",["Anti-PLA2R antibody positivity"],[30057]],[34003,"Broad medial eyebrow",["Medial broadening of eyebrows"],[11229]],[34004,"Parosmia",[],[4408]],[34005,"Decreased dendritic spine number",[],[500032]],[34006,"Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio",[],[33354]],[34007,"Posterior atrophy of corpus callosum",[],[33725]],[34008,"Opto-chiasmatic atrophy",[],[25163]],[34009,"Pelvic lipomatosis",[],[1012]],[34010,"Increased megakaryocyte colony forming unit count",[],[12143]],[34011,"Reduced progressive sperm motility",["Non-progressive sperm motility"],[12206]],[34012,"Palmoplantar hypohidrosis",[],[966]],[34013,"Curvilinear pericallosal lipoma",[],[6931]],[34014,"Tubulonodular pericallosal lipoma",[],[6931]],[34015,"Cavitating pulmonary nodule",[],[33655]],[34016,"Anti-HLA antibody positivity",["Anti-human leukocyte antigen antibody positivity"],[30057]],[34017,"Anti-class I HLA antibody positivity",[],[34016]],[34018,"Anti-class II HLA antibody positivity",[],[34016]],[34019,"Anti-HLA-A antibody positivity",[],[34017]],[34020,"Anti-HLA-A IgG1 antibody positivity",[],[34019]],[34021,"Anti-HLA-A IgG3 antibody positivity",[],[34019]],[34022,"Anti-HLA-B antibody positivity",[],[34017]],[34023,"Anti-HLA-B IgG1 antibody positivity",[],[34022]],[34024,"Anti-HLA-B IgG3 antibody positivity",[],[34022]],[34025,"Abnormal circulating GABA concentration",["Abnormal gamma-aminobutyric acid level"],[33109]],[34026,"Elevated circulating saccharopine concentration",[],[33109]],[34029,"Hepatic foam cells",["Foamy cells on hepatic biopsy","Hepatic lipid-laden macrophage infiltration","Liver biopsy: lipid-laden macrophages"],[3651,30146]],[34030,"Lip cyanosis",["Bluish lips","Cyanotic lips","Labial cyanosis"],[34031]],[34031,"Facial cyanosis",["Bluish face","Cyanotic face"],[34033]],[34032,"Central cyanosis",[],[961]],[34033,"Peripheral cyanosis",[],[961]],[34034,"Differential cyanosis",[],[961]],[34035,"Pharyngeal exudate",["Fluid from the pharynx","Pharyngeal fluid"],[33151]],[34036,"Pseudo-chilblains on toes",["COVID toe","Chilblain-like toe lesions","Chilblain-like toes"],[33696]],[34037,"Pseudo-chilblains on fingers",["COVID finger","COVID fingers"],[33696]],[34038,"Silent hypoxemia",[],[12418]],[34039,"Ventricular couplet",["Doublet premature ventricular contractions"],[6682]],[34040,"Bidirectional ventricular tachycardia",[],[4756]],[34042,"Dorsal hirsutism",[],[9889]],[34043,"Increased fecal bile acid",[],[31685]],[34044,"Trident pelvis",["Trident sign"],[1384]],[34045,"Angulated muscle fibers",["Angular muscle fibers","Angular muscle fibres"],[4303]],[34046,"Mandibular osteolysis",[],[277,2797]],[34047,"Rib osteolysis",[],[772,2797]],[34048,"Decreased circulating chenodeoxycholic acid concentration",["Decreased circulating chenodiol concentration"],[30985]],[34049,"Elevated urinary prostaglandin E2 level",["Elevated urinary PGE2 level"],[3527]],[34050,"Elevated urinary prostaglandin E2 metabolite level",[],[3527]],[34051,"Hypoplastic anterior limbs of the internal capsule",[],[12502]],[34052,"Impaired toe-walking ability",[],[1288]],[34053,"Decreased acid ceramidase activity",[],[12379]],[34054,"Probst bundles",[],[1273]],[34055,"Anti-side-chain cleavage enzyme antibody positivity",["Anti-P450scc"],[30057]],[34056,"Increased fecal calprotectin level",[],[31685]],[34057,"Fetal anomaly",[],[1197]],[34058,"Abnormal fetal morphology",["Structural fetal anomaly","Structural foetal anomaly"],[34057]],[34059,"Abnormal fetal physiology",["Functional fetal anomaly","Functional foetal anomaly"],[34057]],[34060,"Triggered by fava bean ingestion",[],[33793]],[34061,"Anti-steroid 17alpha-hydroxylase antibody positivity",["Anti-P450C17"],[30057]],[34062,"Anti-insulin antibody positivity",["IAA positivity","Insulin autoantibodies"],[30057]],[34063,"Anti-islet antigen-2 antibody positivity",["Anti-IA2 antibody positivity","Anti-IA2A","ICA512"],[30057]],[34064,"Anti-salivary protein antibody positivity",["Anti-SP1 antibody positivity"],[30057]],[34065,"Anti-Zinc transporter 8 antibody positivity",["Anti ZnT8 autoantibodies"],[30057]],[34066,"Anti-carbonic anhydrase VI antibody positivity",["Anti-CA6 antibody positivity"],[30057]],[34067,"Tonofilament clumping",["Clumping of the keratin tonofilaments"],[11121]],[34068,"Anti-plasminogen binding peptide antibody positivity",["Anti-PBP antibody positivity"],[30057]],[34069,"Anti-parotid secretory protein antibody positivity",["Anti-PSP antibody positivity"],[30057]],[34070,"Anti-enterocyte antibody positivity",["AEA"],[30057]],[34071,"Anti-21-hydroxylase antibody positivity",["Anti-P450c21"],[30057]],[34072,"Abnormal fetal long-bone echogenicity",[],[25662]],[34073,"Reduced fetal long bone echogenicity",[],[34072]],[34074,"Increased fetal long bone echogenicity",[],[34072]],[34075,"Decreased circulating apolipoprotein B concentration",[],[33459]],[34076,"Anti-ribosome Po antibody positivity",[],[30057]],[34077,"Anti-complement component C1q antibody positivity",["Anti-C1q antibody positivity"],[6001536]],[34078,"Anti-centromere protein A antibody positivity",["Anti-CENP-A antibody positivity"],[30057]],[34079,"Anti-centromere protein B antibody positivity",["Anti-CENP-B antibody positivity"],[30057]],[34080,"Anti-U3 RNP antibody positivity",["Anti-fibrillarin antibody positivity"],[30057]],[34081,"Anti-Th/To antibody positivity",[],[30057]],[34082,"Anti-bicaudal D2 antibody positivity",["Anti-BICD2 antibody positivity"],[30057]],[34083,"Anti-nucleolus-organizing region antibody positivity",["Anti-Nor90 antibody positivity"],[30057]],[34084,"Anti-phosphatidyl ethanolamine antibody positivity",[],[30057]],[34085,"Anti-PM-Scl100 antibody positivity",[],[33560]],[34086,"Anti-PM-Scl75 antibody positivity",[],[33560]],[34087,"Anti-U11/U12 RNP antibody positivity",[],[30057]],[34088,"Anti-Ku antibody positivity",[],[30057]],[34089,"Anti-B23 antibody positivity",[],[30057]],[34090,"Anti-RuvBL1/2 antibody positivity",[],[30057]],[34091,"Anti-platelet derived growth factor receptor",["Anti-PDGFR antibody positivity"],[30057]],[34092,"Anti-cyclic citrullinated peptide antibody positivity",["Anti-CCP antibody positivity"],[30057]],[34093,"Anti-Ro52/TRIM21 antibody positivity",["Anti-Ro52 antibody positivity"],[30057]],[34094,"Anti-angiotensin receptor type-1 antibody positivity",["Anti-AT1R antibody positivity"],[30057]],[34095,"Anti-endothelin-1 type A receptor antibody positivity",["Anti-ETAR antibody positivity"],[30057]],[34096,"Anti-phosphatidic acid antibody positivity",[],[30057]],[34097,"Anti-phosphatidyl choline antibody positivity",[],[30057]],[34098,"Anti-phosphatidyl glycerol antibody positivity",[],[30057]],[34099,"Anti-phosphatidyl inositol antibody positivity",[],[30057]],[34100,"Anti-phosphatidyl serine antibody positivity",[],[30057]],[34101,"Anti-annexin-V antibody positivity",[],[30057]],[34102,"Anti-sphingolipid antibody positivity",[],[30057]],[34103,"Anti-GM1 antibody positivity",["Anti-ganglioside-monosialic acid antibody positivity"],[31810]],[34104,"Anti-neutrophil elastase antibody positivity",[],[30057]],[34105,"Anti-transcription intermediary factor-1gamma antibody positivity",["Anti-TIF-1gamma antibody positivity","Anti-TIF1-gamma antibody positivity"],[30057]],[34106,"Anti-Su antigen/argonaute 2 antibody positivity",["Anti-Ago2 antibody positivity","Anti-Su antibody positivity"],[30057]],[34107,"Anti-p53 antibody positivity",[],[30057]],[34108,"Anti-Y-box protein-1 antibody positivity",["Anti-YB 1 antibody positivity"],[30057]],[34109,"Anti-GW182 antibody positivity",[],[30057]],[34110,"Anti-Gerbich phenotype 1 antibody positivity",["Anti-Ge-1 antibody positivity"],[30057]],[34111,"Anti-MIT3 antibody positivity",[],[30057]],[34112,"Anti-GM1 IgG antibody positivity",[],[34103]],[34114,"Anti-hexokinase-1 antibody positivity",["Anti-HK-1 antibody positivity"],[30057]],[34115,"Anti-Kelch like protein 12 antibody positivity",["Anti-KLHL-12 antibody positivity"],[30057]],[34117,"Anti-angiotensin-converting enzyme 2 antibody positivity",["Anti-ACE2 antibody positivity"],[30057]],[34118,"Anti-GM1 IgM antibody positivity",[],[34103]],[34119,"Anti-GD1a IgG antibody positivity",[],[34121]],[34120,"Anti-GD1a IgM antibody positivity",[],[34121]],[34121,"Anti-GD1a antibody positivity",[],[31810]],[34122,"Anti-GQ1b antibody positivity",[],[31810]],[34123,"Anti-GQ1b IgM antibody positivity",[],[34122]],[34124,"Anti-GD1b antibody positivity",[],[31810]],[34125,"Anti-GD1b IgM antibody positivity",[],[34124]],[34126,"Anti-GD1b IgG antibody positivity",[],[34124]],[34127,"Anti-GQ1b IgG antibody positivity",[],[34122]],[34128,"Anti-GT1a antibody positivity",[],[31810]],[34129,"Anti-GT1a IgM antibody positivity",[],[34128]],[34130,"Anti-GT1a IgG antibody positivity",[],[34128]],[34131,"Anti-GT1b antibody positivity",[],[31810]],[34132,"Anti-GM2 antibody positivity",[],[31810]],[34133,"Anti-GM3 antibody positivity",[],[31810]],[34134,"Anti-GM4 antibody positivity",[],[31810]],[34135,"Anti-neurofascin-155 antibody positivity",["Anti-NF155 antibody positivity"],[30057]],[34136,"Anti-neurofascin 186 antibody positivity",["Anti-NF186 antibody positivity"],[30057]],[34137,"Anti-contactin-1 antibody positivity",["Anti-CNTN1 antibody positivity"],[30057]],[34138,"Anti-contactin-associated protein 1 antibody positivity",["Anti-CASPR1 antibody positivity"],[34137]],[34139,"Anti-SUMO-activating enzyme antibody positivity",["Anti-SAE antibody positivity","Anti-small ubiquitin-like modifier-1 activating enzyme antibody positivity"],[30057]],[34140,"Anti-SUMO-activating enzyme subunit 1 antibody positivity",[],[34139]],[34141,"Anti-SUMO-activating enzyme subunit 2 antibody positivity",["Anti-SAE 2 antibody positivity"],[34139]],[34142,"Anti-nuclear matrix protein-2 antibody positivity",["Anti-MJ/NXP-2 antibody positivity","Anti-NXP-2 antibody positivity"],[30057]],[34143,"Anti-threonyl-tRNA synthetase antibody positivity",["Anti-PL-7 antibody positivity"],[34147]],[34144,"Anti-hY-RNA complex antibody positivity",["Anti-Ro60 antibody positivity"],[33476]],[34145,"Anti-alanyl-tRNA synthetase antibody positivity",["Anti-PL-12 antibody positivity"],[34147]],[34146,"Anti-glycyl tRNA-synthetase antibody positivity",["Anti-EJ antibody positivity"],[34147]],[34147,"Anti-aminoacyl-tRNA synthetase antibody positivity",[],[30057]],[34148,"Anti-isoleucyl tRNA-synthetase antibody positivity",["Anti-OJ antibody positivity"],[34147]],[34149,"Anti-phenylalanyl tRNA synthetase antibody positivity",["Anti-Zo alpha antibody positivity","Anti-Zo antibody positivity","Phenylanyl-t-RNA synthetase alpha antibody positivity"],[34147]],[34150,"Anti-tyrosyl-tRNA synthetase antibody positivity",["Anti-Ha antibody positivity"],[34147]],[34151,"Anti-asparaginyl-tRNA synthetase antibody positivity",["Anti-KS antibody positivity"],[34147]],[34152,"Anti-histidyl tRNA synthetase antibody positivity",["Anti-JO1 antibody positivity","Anti-Jo-1 antibody positivity"],[34147,6000678]],[34153,"Anti-cytosolic-5-nucleotidase-1A antibody positivity",["Anti-cN1A antibody positivity"],[30057]],[34154,"Anti-Ki antibody positivity",[],[30057]],[34155,"Anti-sp100 antibody positivity",[],[25353]],[34156,"Anti-beta-2-Glycoprotein I IgG antibody positivity",["Anti-beta2GPI IgG antibody positivity"],[32376]],[34157,"Anti-beta-2-Glycoprotein I IgM antibody positivity",["Anti-beta2GPI IgM antibody positivity"],[32376]],[34158,"Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity",["Anti-PTPA antibody positivity"],[34063]],[34159,"Pagetic bone lesion",["Osteitis deformans","Paget bone lesion","Paget disease of bone"],[3330]],[34160,"Abnormal circulating interleukin 9 concentration",[],[11117]],[34161,"Reduced circulating interleukin 9 concentration",[],[34160]],[34162,"Abnormal circulating interleukin 10 concentration",[],[11117]],[34163,"Reduced circulating interleukin 10 concentration",[],[34162]],[34164,"Abnormal circulating interleukin 21 concentration",[],[11117]],[34165,"Reduced circulating interleukin 21 concentration",[],[34164]],[34166,"Increased circulating interleukin 21 concentration",[],[34164]],[34167,"Abnormal circulating interleukin 22 concentration",[],[11117]],[34168,"Reduced circulating interleukin 22 concentration",[],[34167]],[34169,"Increased circulating interleukin 22 concentration",[],[34167]],[34170,"Abnormal circulating interleukin 23 concentration",[],[11117]],[34171,"Reduced circulating interleukin 23 concentration",[],[34170]],[34172,"Increased circulating interleukin 23 concentration",[],[34170]],[34173,"Abnormal circulating interleukin 27 concentration",[],[11117]],[34174,"Reduced circulating interleukin 27 concentration",[],[34173]],[34175,"Increased circulating interleukin 27 concentration",[],[34173]],[34176,"Abnormal circulating interleukin 17A concentration",[],[11117]],[34177,"Reduced circulating interleukin 17A concentration",[],[34176]],[34178,"Increased circulating interleukin 17A concentration",[],[34176]],[34179,"Vertebral artery aneurysm",[],[30321]],[34180,"Fusion of the caudate and putamen",[],[2339,31982]],[34181,"Aplasia/Hypoplasia of the liver",[],[410042]],[34182,"Segmental hypoplasia of liver",[],[34181]],[34183,"Spastic triplegia",[],[34353,100021]],[34184,"Elevated circulating insulin-like growth factor-binding protein acid labile subunit concentration",["Elevated insulin-like growth factor-binding protein complex acid labile subunit concentration","Elevated insulin-like growth factor-binding protein complex acid labile subunit level","Elevated insulin-like growth factor-binding protein complex acid labile subunit level in blood","Increased circulating IGFALS contration","Increased insulin-like growth factor-binding protein complex acid labile subunit concentration","Increased insulin-like growth factor-binding protein complex acid labile subunit level","Increased insulin-like growth factor-binding protein complex acid labile subunit level in blood"],[31034]],[34185,"Median pseudocleft lip",[],[161]],[34186,"Patella alta",[],[3045]],[34187,"Clavicular pseudarthrosis",[],[889]],[34188,"Midline liver",[],[410042]],[34189,"Anti-thyroid-stimulating hormone receptor antibody positivity",["Anti-TSH receptor antibody positivity","Anti-thyrotropin receptor antibody","TRAbs"],[430050]],[34190,"Abnormal fetal cardiovascular physiology",[],[11025,34059]],[34191,"Elevated fetal middle cerebral artery peak systolic velocity",[],[34190]],[34192,"Pulmonary thromboembolism",[],[1907]],[34193,"Stratum basale cleavage",["Blistering with cleavage within basal keratinocytes","Cleavage within the basal keratinocyte layer"],[33802]],[34194,"Suprabasal cleavage",["Blistering with suprabasal clefting"],[33802]],[34195,"Triggered by muscle relaxant",[],[4000101]],[34196,"Ductus venosus agenesis",["Agenesis of the ductus venosus"],[10948]],[34197,"Third trimester onset",[],[11461]],[34198,"Second trimester onset",[],[11461]],[34199,"Late first trimester onset",["Early fetal onset","Early foetal onset"],[11461]],[34200,"Abnormal CSF homovanillic acid concentration",[],[25454]],[34201,"Increased CSF homovanillic acid concentration",[],[34200]],[34202,"Abnormal iduronate sulfatase concentration",[],[12379]],[34203,"Decreased iduronate sulfatase level",[],[34202]],[34204,"Decreased circulating C1-esterase inhibitor concentration",[],[5339]],[34205,"Iniencephaly",[],[34237]],[34206,"Abnormal fetal central nervous system morphology",["Abnormal fetal CNS morphology","Abnormal foetal CNS morphology"],[34058]],[34207,"Abnormal fetal gastrointestinal system morphology",[],[34058]],[34208,"Fetal intracranial hemorrhage",[],[2170,34206]],[34209,"Fetal subependymal hemorrhage",["Grade I fetal intracranial hemorrhage","Grade I foetal intracranial haemorrhage"],[34210]],[34210,"Fetal intraventricular hemorrhage",[],[34208]],[34211,"Fetal cerebral parenchymal hemorrhage",[],[34208]],[34212,"Fetal extra-axial hemorrhage",[],[34208]],[34213,"Fetal posterior fossa hemorrhage",[],[34208]],[34214,"Fetal intraventricular hemorrhage without ventriculomegaly",["Grade II fetal intracranial hemorrhage","Grade II foetal intracranial haemorrhage"],[34210]],[34215,"Fetal cerebellar hemisphere hemorrhage",[],[34213]],[34216,"Fetal cerebellar vermis hemorrhage",[],[34213]],[34217,"Sonographic non-visualized fetal bladder",[],[34242]],[34218,"Fetal intraventricular hemorrhage with ventriculomegaly",["Grade III fetal intracranial hemorrhage","Grade III foetal intracranial haemorrhage"],[34210]],[34219,"Fetal intraventricular hemorrhage with periventricular hemorrhage",["Grade IV fetal intracranial hemorrhage","Grade IV foetal intracranial haemorrhage"],[34210]],[34220,"Temporal lobe megalencephaly",[],[1355,34221]],[34221,"Abnormal temporal lobe morphology",[],[2538]],[34222,"Temporal lobe dysplasia",[],[34221]],[34223,"Elevated umbilical artery pulsatility",["Elevated umbilical artery Dopplers","Increased umbilical artery pulsatility index"],[25715]],[34224,"Absent end-diastolic umbilical artery flow",[],[25715]],[34225,"Reversed end-diastolic umbilical artery flow",[],[25715]],[34226,"Champagne cork sign",[],[25662]],[34227,"Aortic isthmus hypoplasia",[],[12304]],[34228,"Proximal aortic arch hypoplasia",[],[12304]],[34229,"Distal aortic arch hypoplasia",[],[12304]],[34230,"Inferior crossed fused renal ectopia",["Type A cross fused renal ectopia"],[4736]],[34231,"Sigmoid kidney",["S-shaped kidney","Type B cross fused renal ectopia"],[4736]],[34232,"Unilateral lump kidney",["Type C cross fused renal ectopia"],[4736]],[34233,"Disc kidney",["Type D cross fused renal ectopia"],[4736]],[34234,"L-shaped kidney",["Tandem kidney","Type E cross fused renal ectopia"],[4736]],[34235,"Superior crossed-fused renal ectopia",[],[4736]],[34236,"Apnea of prematurity",["AOP"],[2104]],[34237,"Open neural tube defect",[],[45005]],[34238,"Closed neural tube defect",[],[45005]],[34239,"Renal vein thrombosis",[],[33835]],[34240,"Fetal neck mass",[],[25667]],[34241,"Prenatal death",["Death before birth","Intrauterine death"],[11420]],[34242,"Abnormal fetal genitourinary system morphology",[],[34058]],[34243,"Abnormal fetal pulmonary morphology",[],[34058]],[34244,"Gastric pseudomass",[],[34207]],[34245,"Fetal head anomaly",[],[34058]],[34246,"Fetal scalp mass",[],[34245]],[34247,"Fetal lower urinary tract obstruction",[],[34242]],[34248,"Increased fetal lens echogenicity",[],[34058]],[34249,"Severe influenza infection",["Severe influenza"],[31691,5210320]],[34250,"Fetal nuchal edema",[],[25667]],[34251,"Abnormal corneal reflex",[],[12373]],[34252,"Absent corneal reflex",[],[34251]],[34253,"Eosinophil nuclear hypersegmentation",[],[1879]],[34254,"Face of the giant panda sign",["Midbrain panda sign"],[2418]],[34255,"Colovesical fistula",["Colovesicular fistula","Vesicocolic fistula"],[4321,100819]],[34256,"Absent dermoepidermal hemidesmosomes",[],[32449]],[34257,"C4 nephritic factor positivity",[],[30057]],[34258,"Aplasia/Hypoplasia of the midbrain",["Aplasia/Hypoplasia of the mesencephalon"],[2418]],[34259,"Hypoplasia of the midbrain",["Hypoplasia of the mesencephalon","Hypoplastic mesencephalon"],[34258]],[34260,"Aplastic zygomatic arch",[],[5557]],[34261,"Aplasia/Hypoplasia of facial bones",[],[11821]],[34262,"Absent lanugo",[],[25723]],[34263,"Abnormal vaginal bleeding",[],[1892,34268]],[34264,"Postcoital vaginal bleeding",["Bleeding after sex"],[34263]],[34265,"Mastalgia",["Breast pain","Painful breast"],[12531]],[34266,"Vaginal bleeding during sex",[],[34263]],[34267,"Pelvic pain",["Pain in the pelvis"],[12531]],[34268,"Abnormal vaginal physiology",[],[30012]],[34269,"Abnormal vaginal discharge",[],[34268]],[34270,"Serrated incisors",["Jagged incisors"],[11063]],[34271,"Copper beaten skull",[],[2683]],[34272,"Perifoveal hypoautofluorescence",[],[25159]],[34273,"Premature sagging cheeks",["Premature facial sagging"],[4426]],[34274,"Gastrointestinal ulcer",[],[12718]],[34275,"Verrucous epidermal nevus",[],[10816]],[34276,"Elevated circulating thymidine concentration",["Increased serum thymidine"],[4353]],[34277,"Elevated circulating deoxyuridine concentration",[],[4353]],[34278,"Multinucleated erythroblast",["Bone marrow: multinucleated erythroblasts","Multinucleate erythroblast","Binucleated erythroblast","Double-nucleated erythroblast"],[12130]],[34279,"2,8-dihydroxyadenine crystalluria",["2,8-dihydroxyadenine urinary crystals"],[20074]],[34280,"Target cells",["Codocytes"],[4447]],[34281,"Phalangeal cone-shaped epiphyses",["Cone-shaped epiphyses of phalanges","Cone-shaped phalangeal epiphyses"],[10579]],[34282,"Subcutaneous ossification",[],[11986]],[34283,"Increased fecal protoporphyrin concentration",[],[31685]],[34284,"Recurrent gingivitis",["Chronic gingivitis","Persistent gingivitis"],[230,2719]],[34285,"Enteroviral encephalitis",[],[33993]],[34287,"Afibrinogenemia",[],[11898]],[34288,"Elevated circulating reverse T3 concentration",["Elevated circulating reverse triiodothyronine concentration","Elevated rT3"],[25120]],[34289,"Elevated circulating rT3/T3 ratio",[],[31508]],[34290,"Elevated circulating tiglylglycine concentration",[],[4354]],[34291,"Elevated circulating creatine concentration",[],[12113]],[34292,"Reduced circulating creatine concentration",[],[12113]],[34293,"Temporal lobe calcification",[],[2514]],[34294,"Ductal bile plugs",[],[12440]],[34295,"Reduced cerebral white matter volume",["White matter loss"],[2500]],[34296,"Elevated urine 3,5,6-trichloro-2-pyridinol level",[],[31840]],[34297,"Elevated circulating tetracosanoic acid concentration",["Elevated tetracosanoic acid concentration","Elevated tetracosanoic acid level","Elevated tetracosanoic acid level in blood","Increased tetracosanoic acid concentration","Increased tetracosanoic acid level","Increased tetracosanoic acid level in blood"],[10966]],[34298,"Elevated circulating hexacosanoic acid concentration",["Elevated circulating cerotic acid concentration","Elevated hexacosanoic acid concentration","Elevated hexacosanoic acid level","Elevated hexacosanoic acid level in blood","Increased hexacosanoic acid concentration","Increased hexacosanoic acid level","Increased hexacosanoic acid level in blood"],[10966,33643]],[34299,"Sertoli cell-only phenotype",[],[35]],[34300,"Decreased acid sphingomyelinase activity",[],[12379]],[34301,"Congenital pouch colon",[],[2250]],[34302,"Megalopapilla",[],[12795]],[34303,"Notched T wave",["Notched T-wave"],[5135]],[34304,"Epsilon wave",[],[3115]],[34305,"2:1 atrioventricular block",["2:1 AV block"],[11706]],[34306,"Ventricular bigeminy",[],[6682]],[34307,"Elevated left ventricular end-diastolic diameter",[],[5162]],[34308,"Prolonged P wave",[],[31595]],[34309,"Multiflagellar spermatozoa",["Multi-tailed spermatozoa"],[12868]],[34310,"Post-vaccination yellow fever",["Postvaccination yellow fever"],[20085]],[34311,"Hypoplastic optic chiasm",["Optic chiasm hypoplasia"],[25163]],[34312,"Nocturnal hypoxemia",["Sleep hypoxemia","Sleep-related hypoxemia"],[12418]],[34313,"Hyperdynamic left ventricular ejection fraction",[],[34314]],[34314,"Abnormal left ventricular ejection fraction",[],[5162]],[34315,"Chronic cough",[],[12735]],[34316,"Thinning of the substantia nigra pars compacta",[],[45007]],[34317,"Unusual viral infection",[],[32101]],[34318,"Unusual virus reactivation",[],[34317]],[34319,"CNS vasculitis with reactivation of varicella-zoster virus",[],[34318]],[34320,"Muscle fiber intracytoplasmic reducing inclusion bodies",["Intracytoplasmic myofiber reducing inclusion bodies"],[100303]],[34321,"Elevated circulating guanidinoacetic acid concentration",["Increased circulating guanidinoacetic acid concentration"],[33108]],[34322,"Reduced tissue galactocerebrosidase activity",["Reduced circulating galactocerebrosidase activity","Reduced galactocerebrosidase activity in cultured fibroblasts","Reduced leukocyte galactocerebrosidase activity"],[6000231]],[34323,"Reduced circulating growth hormone concentration",["Growth hormone deficiency","Somatotropin deficiency"],[32367]],[34324,"Brachiocephalic artery aneurysm",["Dilatated brachiocephalic artery","Innominate artery aneurysm"],[2617]],[34325,"Common carotid artery aneurysm",[],[430021]],[34326,"Adenomyosis",[],[31105]],[34327,"Posterior corneal stroma punctiform multicolored opacities",["Punctiform multicolored opacities in the posterior corneal stroma","Punctiform multicoloured opacities in the posterior corneal stroma"],[11492]],[34328,"Fibro-obliterative bile-duct lesion",["Fibro-obliterative bile-duct scarring","Fibro-obliterative loss of bile ducts"],[11040]],[34329,"Dysplastic megalencephaly",["Bilateral hemimegalencephaly"],[1355]],[34330,"Regional right ventricular hypokinesis",[],[33118]],[34331,"McConnell sign",[],[34330]],[34332,"Cognitive regression",[],[2376]],[34333,"Increased circulating hypoxanthine concentration",["Hypoxanthine high in blood"],[4368]],[34335,"Inheritance qualifier",["Inheritance modifier"],[5]],[34336,"Splenic infarction",["Spleen infarct","Spleen infarction","Splenic infarct"],[25408]],[34337,"Claw hand deformity",[],[9473]],[34338,"Imprinted",[],[34335]],[34339,"Pseudoautosomal inheritance",["Pseudoautosomal region inheritance"],[34345]],[34340,"Pseudoautosomal dominant inheritance",["monoallelic_PAR"],[34339]],[34341,"Pseudoautosomal recessive inheritance",["biallelic_PAR"],[34339]],[34342,"Trapezius muscle aplasia",[],[11006]],[34343,"Requires heterozygosity",[],[34335]],[34344,"Female-limited expression",[],[1470]],[34345,"Mendelian inheritance",[],[5]],[34346,"Nesidioblastosis",[],[12090]],[34347,"Greater auricular nerve thickening",["Palpable great auricular nerve"],[3000048]],[34348,"Subpulmonary stenosis",["Infundibular pulmonary stenosis","Infundibular pulmonic stenosis","Subvalvar pulmonary stenosis","Subvalvar pulmonic stenosis","Subvalvular pulmonary stenosis","Subvalvular pulmonic stenosis"],[1642]],[34349,"Supravalvar pulmonary stenosis",["Supravalvar pulmonnic stenosis","Supravalvular pulmonary stenosis","Supravalvular pulmonic stenosis"],[1642]],[34350,"Valvular pulmonary stenosis",[],[1642]],[34351,"Neuromyotonia",["Peripheral nerve hyperexcitability"],[32120]],[34352,"Bile duct polyp",[],[12440]],[34353,"Appendicular spasticity",["Extremity spasticity","Limb spasticity","Spastic extremities","Spastic limb","Spastic limbs","Spasticity of extremities","Spasticity of extremity","Spasticity of limbs"],[1257]],[34354,"Trichoschisis",[],[3328]],[34355,"White cerebellum sign",[],[1317]],[34356,"Impaired renal tubular reabsorption of low molecular weight protein",["Increased low molecular weight protein excretion"],[11038]],[34357,"Impaired renal tubular reabsorption of glucose",[],[11038]],[34358,"Impaired renal tubular reabsorption of sodium",[],[11038]],[34359,"Impaired renal tubular reabsorption of phosphate",[],[11038]],[34360,"Action myoclonus",[],[1336]],[34361,"Redundant umbilical skin",[],[4298]],[34362,"Dull foveal reflex",["Decreased foveal light reflex","Muted foveal light reflex","Poor foveal light reflex"],[493]],[34363,"Corneal pterygium",["Surfer's eye","Wing-shaped conjunctiva"],[502]],[34364,"Fibrofatty replacement of right ventricular myocardium",[],[1707]],[34365,"Elevated circulating alpha-aminoadipic semialdehyde concentration",["Elevated circulating piperideine-6-carboxylic acid concentration"],[10995]],[34366,"Fracture blister",[],[33800]],[34367,"Decreased circulating beta-mannosidase activity",[],[34725]],[34368,"Urolithiasis",[],[25633]],[34369,"Decreased level of coenzyme Q10 in skeletal muscle",[],[34370]],[34370,"Abnormal muscle tissue metabolite concentration",[],[11805,32243]],[34371,"Decreased circulating prekallikrein concentration",[],[10876]],[34372,"Internal tibial torsion",["Internal tibial rotation"],[100694]],[34373,"External tibial torsion",["External tibial rotation"],[100694]],[34374,"Trident acetabulum",["Trident acetabula"],[10454]],[34375,"Spherophakia",[],[11526]],[34376,"Atrioventricular valve regurgitation",[],[31650]],[34377,"Single atrioventricular valve regurgitation",[],[34376]],[34378,"Urethrovesical occlusion",[],[796]],[34380,"Juvenile type testicular granulosa cell tumor",[],[10788]],[34381,"Central nervous system axonal spheroid",["CNS axonal spheroid"],[2011]],[34382,"Disease remission",[],[31797]],[34383,"Elevated circulating biliverdin concentration",[],[10995]],[34384,"Elevated circulating insulin:C-peptide ratio",[],[40214]],[34385,"Abnormal left ventricular endsystolic diameter",[],[25169]],[34386,"Reduced left ventricular endsystolic diameter",[],[34385]],[34387,"Bacterial encephalitis",[],[2383,5210000]],[34388,"Hilar lymph node enlargement",["Hilar adenopathy","Hilar lymphadenopathy"],[2716]],[34389,"Pulmonary vein varix",["Pulmonary vein dilatation"],[30968]],[34390,"Decreased CSF glycine concentration",["Glycine low in CSF"],[500229]],[34391,"Elbow contracture",[],[100360]],[34392,"Joint contracture",["Contracture"],[3549,11729,11805,100261]],[34393,"Elbow extension contracture",[],[34391]],[34394,"Forearm supination contracture",["Supination contracture of the forearm"],[100360]],[34395,"Forearm pronation contracture",["Pronation contracture of the forearm"],[100360]],[34396,"Hippocampal malrotation",[],[25100]],[34397,"Claw toe deformity",[],[34398]],[34398,"Toe deformity",[],[1780]],[34399,"Prolonged central motor conduction time",[],[12079]],[34400,"Circumferential skin creases on extremities",[],[11355]],[34401,"Atypical teratoid/rhabdoid tumor",[],[2898]],[34402,"Rhabdoid tumor of the kidney",["Malignant rhabdoid tumor of the kidney","Malignant rhabdoid tumour of the kidney"],[9726,34557]],[34403,"Subcutaneous panniculitis-like T-cell lymphoma",[],[12190]],[34404,"Fungal hyphae in sputum",[],[32016]],[34405,"Enlarged tectum",["Thick tectum"],[2363]],[34406,"Elevated CSF angiotensin-converting enzyme concentration",["Angiotensin-converting enzyme (ACE) high in CSF","Angiotensin-converting enzyme high in CSF"],[25456]],[34407,"Reduced circulating 3-ketoacyl-CoA thiolase concentration",["3-ketoacyl-CoA thiolase (THIO) deficiency"],[12379]],[34408,"Solitary angiokeratoma",[],[1014]],[34409,"Fordyce angiokeratoma",[],[1014]],[34410,"Angiokeratoma circumscriptum naeviforme",[],[1014]],[34411,"Angiokeratoma of Mibelli",[],[1014]],[34412,"Laryngeal mass",[],[25423]],[34413,"Palate mass",[],[174]],[34414,"Thick oral frenulum",["oral frenulum, thick"],[190]],[34415,"Tooth avulsion",["Avulsed tooth","Teeth: avulsion"],[6482]],[34416,"Torn oral frenulum",["Laceration of oral frenulum","Oral frenulum, torn"],[190]],[34417,"Intraoral laceration",["Intraoral lacerations"],[11830]],[34418,"Erythematous oral mucosa",["Oral mucosa erythema"],[11830]],[34419,"Mitral chordae tendinae rupture",["Flail mitral valve leaflet","Mitral chordae tendineae rupture"],[25523]],[34420,"History of cardiovascular procedure",[],[430103]],[34421,"Ejection click",["Cardiac click sound on auscultation"],[31657]],[34422,"Cryofibrinogenemia",[],[11898]],[34423,"Triggered by allergens",[],[25204]],[34424,"Clicking tinnitus",[],[360]],[34425,"Reduced hair sulfur content",["Hair sulfur content reduced","Hair sulphur content reduced"],[3328]],[34426,"Chromhidrosis",[],[971]],[34427,"Purulent eye discharge",["Mucopurulent discharge from the eye"],[100533]],[34428,"Megaloblepharon",[],[492]],[34429,"Bacteria in cerebrospinal fluid",["Bacteria in CSF"],[34747]],[34430,"Abnormal joint physiology",[],[11843]],[34431,"Joint crepitus",[],[34430]],[34432,"Intertriginous distribution",["Intertriginous distribution of skin lesions"],[12836]],[34433,"Distributed along skin tension lines",["Distributed along Langer's lines","Lesions follow lines of cleavage"],[12836]],[34434,"Abnormal communication",[],[25792]],[34435,"Abnormal eye contact",[],[758]],[34436,"Gaze avoidance",["Gaze aversion"],[34435]],[34437,"Excessive eye contact",[],[34435]],[34438,"Balanitis",[],[36]],[34439,"Instep location",["Instep localization to skin abnormality"],[12838]],[34440,"Ameliorated by ultraviolet light exposure",["Ultraviolet exposure improves condition"],[25254]],[34441,"Decreased circulating aspartic acid concentration",["Aspartic acid low in blood","Decreased aspartic acid concentration","Decreased aspartic acid level","Decreased aspartic acid level in blood","Reduced aspartic acid concentration","Reduced aspartic acid level","Reduced aspartic acid level in blood"],[500158]],[34442,"Abnormal circulating erythropoietin concentration",[],[3117]],[34443,"Reduced circulating erythropoietin concentration",["Erythropoietin low in blood"],[34442]],[34444,"Abnormal gamma-glutamyltransferase level",[],[12379]],[34445,"Reduced gamma-glutamyltransferase level",["Gamma-glutamyl transferase low in blood"],[34444]],[34446,"Elevated circulating histamine concentration",["Histamine high in blood"],[33405]],[34447,"Increased circulating interleukin 18 concentration",["IL-18 high in blood"],[11117]],[34448,"Abnormal phytanic acid:pristanic acid ratio",["Abnormal phytanic acid to pristanic acid ratio","Abnormal phytanic acid/pristanic acid ratio"],[10964]],[34449,"Increased phytanic acid:pristanic acid ratio",["Phytanic acid to pristanic acid ratio high"],[34448]],[34450,"Decreased phytanic acid:pristanic acid ratio",["Phytanic acid to pristanic acid ratio low"],[34448]],[34451,"Rectovesical fistula",["Vesicorectal fistula"],[4321,100590]],[34452,"Rectoureteral fistula",[],[100590]],[34453,"Hypoplastic umbilicus",["Umbilicus hypoplastic"],[1551]],[34454,"Arachnoid granulation",[],[100700]],[34455,"Increased CSF taurine concentration",["Taurine high in CSF"],[25454]],[34456,"Elevated circulating glutathione concentration",["Glutathione high in blood"],[33109]],[34457,"Hawkinsinuria",["Hawkinsin high in urine"],[3215]],[34458,"Elevated urinary phenylpyruvic acid level",["Phenylpyruvic acid high in urine"],[40156]],[34459,"Ameliorated by lumbar puncture",["Lumbar puncture relieves symptoms"],[25254]],[34460,"Increased CSF uracil concentration",[],[25454]],[34461,"Elevated urine kynurenine level",["Kynurenine high in urine"],[40156]],[34462,"Increased CSF L-alloisoleucine concentration",["L-alloisoleucine high in CSF"],[25454]],[34463,"Hydroxylysinemia",["Hydroxylysine present in blood"],[10908]],[34464,"Homocitrullinuria",["Homocitrulline present in urine"],[33098]],[34465,"2-hydroxyadipic aciduria",["2-hydroxyadipic acid high in urine"],[3215]],[34466,"Homoargininuria",["Homoarginine high in urine"],[33098]],[34467,"Increased urinary cysteine level",[],[33095]],[34468,"Gastric xanthoma",["Gastric xanthomas","Gastric xanthomata"],[2577]],[34469,"Decreased stool elastase level",["Elastase low in stool"],[31685]],[34470,"Elevated stool chloride content",["Chloride high in stool","Elevations in faecal chloride concentration","Elevations in fecal chloride concentration"],[31685]],[34471,"Increased fecal coproporphyrin III:coproporphyrin I ratio",["Coproporphyrin isomer III/I ratio high in stool","Increased faecal CIII:CI ratio","Increased fecal CIII:CI ratio"],[31685]],[34472,"Increased fecal harderoporphyrin",["Harderoporphyrin high in stool"],[32999]],[34473,"Increased fecal heptacarboxylporphyrin",["Heptacarboxylporphyrin high in stool"],[32999]],[34474,"Increased fecal pentacarboxylporphyrin",["Pentacarboxylporphyrin high in stool"],[32999]],[34475,"Increased fecal isocoproporphyrin",["Isocoproporphyrin high in stool"],[32999]],[34476,"Positive fecal Clostridium botulinum test",["Clostridium botulinum toxin in stool"],[34866]],[34477,"Perihepatic adhesions",["Peri-hepatic adhesions"],[2585]],[34478,"Dilated vas deferens",["Vas deferens dilated"],[12872]],[34479,"Enlarged epididymis",["Epididymis enlarged"],[9714]],[34480,"Absent epididymidis",["Absent epididymides","Epididymides absent"],[9714]],[34481,"Atypical gestures",[],[4000090]],[34482,"Abnormal spinal cord physiology",[],[12638]],[34483,"Bone marrow vacuolated lymphocytes",["Bone marrow: vacuolated lymphocytes"],[5561]],[34484,"Spinal cord calcifications",[],[2143]],[34485,"Neuroepithelial cyst",["Glioependymal cyst","Neuroglial cyst"],[30063,100835]],[34486,"Reduced circulating interleukin 7 concentration",["IL-7 low in blood"],[11117]],[34487,"Increased circulating interleukin 12 concentration",["IL-12 high in blood"],[6000442]],[34488,"Increased circulating interleukin 13 concentration",["IL-13 high in blood"],[11117]],[34489,"Increased circulating interleukin 2 concentration",["IL-2 high in blood"],[11117]],[34490,"Increased circulating interleukin 4 concentration",["IL-4 high in blood"],[11117]],[34491,"Increased circulating interleukin 5 concentration",["IL-5 high in blood"],[11117]],[34492,"Salpingitis",[],[11027]],[34493,"Tubo-ovarian abscess",[],[100592]],[34494,"Opacified paranasal sinuses",["Paranasal sinuses opacification","Paranasal sinuses opacified"],[245]],[34495,"Elevated brain glutamine level by MRS",[],[34496]],[34496,"Abnormal brain glutamine level by MRS",[],[12705]],[34497,"Increased urinary hexanoic acid level",[],[3215]],[34498,"Hepatic focal nodular hyperplasia",["Focal nodular hyperplasia"],[2896]],[34499,"Increased bone marrow iron",["Bone marrow: iron stores increased"],[5561]],[34500,"Glenoid fracture",[],[41245]],[34501,"Widened mediastinum",["Mediastinal widening"],[45026]],[34502,"Narrow mediastinum",[],[45026]],[34503,"Ovarian torsion",[],[31065]],[34504,"Septate gallbladder",[],[12437]],[34505,"Gallbladder wall thickening",[],[12437]],[34506,"Gallbladder enlargement",["Gallbladder enlarged"],[12437]],[34507,"Gallbladder mass",[],[12437]],[34508,"Fingerprint bodies",["Muscle biopsy: fingerprint bodies at periphery of muscle fibers","Muscle biopsy: fingerprint bodies at periphery of muscle fibres"],[4303]],[34509,"Spheroid bodies",[],[4303]],[34510,"Abnormal muscle tissue enzyme activity or level",[],[11805]],[34511,"Reduced muscle aconitase activity",["Muscle biopsy: aconitase deficiency"],[34510]],[34512,"Transitional-cell carcinoma of the ureter",[],[100516]],[34513,"Increased circulating Interferon-alpha concentration",["Interferon-alpha high in blood"],[11116]],[34514,"Liver hamartoma",[],[2896,10566]],[34515,"Ameloblastoma",[],[100612]],[34516,"Ameliorated by ketogenic diet",["Ketogenic diet improves symptoms"],[25254]],[34517,"Pretibial plaque",["Pretibial hyperpigmentation","Pretibial plaques"],[953]],[34518,"Gingival fragility",["Gum fragility"],[168,6001535]],[34519,"Muscle fiber fuchsinophilic inclusion bodies",[],[100299]],[34520,"Esophageal myenteric plexus degeneration",[],[2031]],[34521,"Periorificial hyperkeratosis",[],[962]],[34522,"Eosinophilic lymph node infiltration",[],[34582]],[34523,"Blood parasite",["Parasitemia"],[31863]],[34524,"Bloodstream trypomastigotes",[],[34523]],[34525,"Adamantinoma",[],[10622]],[34526,"Abnormal enzyme activity in muscle tissue",[],[6000231]],[34527,"Reduced muscle phosphoglycerate kinase activity",[],[34526]],[34528,"Reduced fibroblast type III procollagen synthesis",["Type III procollagen synthesis by fibroblasts low"],[11017]],[34529,"Reduced muscle myoadenylate deaminase activity",["Muscle biopsy: myoadenylate deaminase low"],[34526]],[34530,"Bent long bone",["Angulated long bone"],[11314]],[34531,"Tracheal rupture",[],[2778]],[34532,"Increased myocardial glycogen content",["Increased glycogen in myocardium"],[1637]],[34533,"Triggered by monoamine oxidase inhibitor",["MAO inhibitors trigger attacks","Triggered by MAO inhibitor"],[4000101]],[34534,"Triggered by serotonin reuptake inhibitor",["Serotonin uptake inhibitors trigger attacks"],[4000101]],[34535,"Ameliorated by acetazolamide",["Acetazolamide relieves attacks"],[34536]],[34536,"Ameliorated by exposure to medication",[],[25254]],[34537,"Ameliorated by vitamin B12",["Vitamin B12 treatment produces improvement"],[34536]],[34538,"Ameliorated by thiamine",["Thiamine: positive response"],[34536]],[34539,"Ameliorated by dantrolene",["Dantrolene reduces symptoms"],[34536]],[34540,"Ameliorated by biotin",["Biotin supplementation produces improvement"],[34536]],[34541,"Reduced bone-marrow megakaryocyte size",[],[12143]],[34542,"Hairshafts with longitudinal grooves",[],[3328]],[34543,"Mycobacterium bacteremia",["Mycobacterium present on blood culture"],[31864]],[34544,"Decreased delta-aminolevulinate dehydratase activity",["Delta-aminolevulinate dehydratase activity low","Delta-aminolevulinate dehydratase deficiency"],[12379]],[34545,"Elevated circulating pancreatic secretory trypsin inhibitor activity",["Elevated circulating SPINK1 activity","Elevated circulating serine protease inhibitor Kazal type I"],[12379]],[34546,"Presence of uterus in 46,XY individual",[],[812]],[34547,"Intraluminal meconium calcification",[],[34207]],[34548,"Portal vein hypoplasia",["Hypoplasia of the portal veins"],[31941]],[34549,"Adrenal leiomyoma",[],[100631]],[34550,"Small intestinal lymphoplasmacytic infiltrate",[],[2244]],[34551,"Triggered by neuroleptic medication",["Triggered by antipsychotic medication"],[4000101]],[34552,"Abnormal peroxisomal morphology",[],[25461]],[34553,"Absence of peroxisomes",[],[34552]],[34554,"Paucity of peroxisomes",[],[34552]],[34555,"Reduced sulfide:quinone oxidoreductase activity",[],[12379]],[34556,"Deficit at segmental level",[],[12836]],[34557,"Rhabdoid tumor",[],[11792]],[34558,"Rhabdoid tumor of the ovary",[],[34557]],[34559,"Cardiac rhabdoid tumor",[],[34557]],[34560,"Malignant rhabdoid tumor of the bladder",[],[34557]],[34561,"Malignant rhabdoid tumor of liver",[],[34557]],[34562,"Malignant rhabdoid tumor of muscle",[],[34557]],[34563,"Neck teratoma",[],[9792]],[34564,"Kidney teratoma",[],[9792]],[34565,"Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level",["Elevated urinary AICA-riboside level"],[33161]],[34566,"Aplasia of posterior communicating artery",["Absence of both posterior communicating arteries"],[31772]],[34567,"Optic pit",["Optic disc pit","Optic nerve pit"],[587]],[34568,"Ameliorated by naloxone",[],[34536]],[34569,"Ameliorated by pyridoxal phosphate",[],[25254]],[34570,"Thickened intrahepatic portal venules",[],[31941]],[34571,"Ovarian fibrosis",[],[31065]],[34572,"Pigment incontinence",["Pigmentary incontinence in papillary dermis"],[1000]],[34573,"Abnormal epidermal protein expression",[],[11124]],[34574,"Reduced epidermal keratin 10 protein expression",[],[35004]],[34575,"Reduced epidermal collagen IV protein expression",["Skin biopsy: collagen IV antibody staining abnormal or absent"],[34573]],[34576,"Reduced epidermal bullous pemphigoid antigen 1 protein expression",["Skin biopsy: BPAG1-e antibody staining abnormal or absent"],[34573]],[34577,"Reduced epidermal collagen VII protein expression",["Skin biopsy: collagen VII antibody staining abnormal or absent"],[34573]],[34578,"Reduced epidermal collagen XVII protein expression",["Skin biopsy: collagen XVII antibody staining abnormal or absent"],[34573]],[34579,"Reduced epidermal integrin alpha6beta4 protein expression",["Skin biopsy: integrin alpha6beta4 antibody staining abnormal or absent"],[34573]],[34580,"Reduced epidermal plectin protein expression",["Skin biopsy: plectin antibody staining abnormal or absent"],[34573]],[34581,"Bloodstream Trypanosoma cruzi",["Trypanosoma cruzi present on peripheral blood smear"],[34523]],[34582,"Abnormal lymph node cell composition",[],[2733]],[34583,"Lipid-laden lymph node macrophages",[],[34582]],[34584,"Abnormal pancreatic acinus morphology",[],[12090]],[34585,"Cochlear nerve hypoplasia",[],[11396]],[34586,"Glutathionuria",["Glutathione high in urine"],[33098]],[34587,"Nevus psiloliparus",[],[3764]],[34588,"Crypt hyperplasia",[],[25129]],[34589,"Increased circulating dehydroepiandrosterone-sulfate concentration",[],[500022]],[34590,"Abnormal circulating thyroxine-binding globulin concentration",["Abnormal thyroxine-binding globulin level"],[10876]],[34591,"Decreased circulating thyroxine-binding globulin concentration",["Decreased thyroxine-binding globulin concentration","Decreased thyroxine-binding globulin level","Decreased thyroxine-binding globulin level in blood","Reduced thyroxin-binding globulin","Reduced thyroxine-binding globulin concentration","Reduced thyroxine-binding globulin level","Reduced thyroxine-binding globulin level in blood","Thyroxine-binding globulin low in blood"],[34590]],[34592,"Elevated circulating beta-aminoisobutyric acid concentration",["Beta-aminoisobutyric acid high in blood"],[33109]],[34593,"Elevated circulating dihydrouracil concentration",["Dihydrouracil high in blood","Elevated circulating 5,6-dihydrouracil concentration"],[4353]],[34594,"Elevated circulating dihydrothymine concentration",["Dihydrothymine high in blood"],[4353]],[34595,"Elevated circulating N-carbamoyl-beta-alanine concentration",["N-carbamoyl-beta-alanine acid high in blood"],[33109]],[34596,"Elevated ciculating 5-hydroxymethyluracil concentration",["5-hydroxymethyluracil high in blood"],[4353]],[34597,"Decreased CSF creatinine concentration",[],[25454]],[34598,"Elevated urinary creatine level",["Creatine high in urine"],[6000531]],[34599,"Decreased circulating biotin concentration",["Biotin low in blood"],[12379]],[34600,"Elevated circulating thrombopoietin concentration",["Thrombopoietin high in blood"],[3117]],[34601,"Decreased circulating C1q concentration",[],[4431]],[34602,"Decreased circulating apolipoprotein A-II concentration",["Apolipoprotein A-II low in blood","Decreased apolipoprotein A-II concentration","Decreased apolipoprotein A-II level","Decreased apolipoprotein A-II level in blood","Reduced apolipoprotein A-II concentration","Reduced apolipoprotein A-II level","Reduced apolipoprotein A-II level in blood"],[33459]],[34604,"Elevated circulating DOPA concentration",["DOPA high in blood","Elevated circulating 3,4-dihydroxyphenylalanine concentration"],[10996]],[34605,"Elevated CSF DOPA concentration",["Elevated CSF 3,4-dihydroxyphenylalanine concentration"],[500183]],[34606,"Elevated circulating porphyrin concentration",["Elevated porphyrins concentration","Elevated porphyrins level","Elevated porphyrins level in blood","Increased porphyrins concentration","Increased porphyrins level","Increased porphyrins level in blood","Porphyrin high in blood"],[10472]],[34607,"Decreased circulating 17-hydroxyprogesterone concentration",[],[8233]],[34608,"Decreased circulating transcobalamin-2 concentration",["Decreased transcobalamin-2 concentration","Decreased transcobalamin-2 level","Decreased transcobalamin-2 level in blood","Reduced transcobalamin-2 concentration","Reduced transcobalamin-2 level","Reduced transcobalamin-2 level in blood","Transcobalamin II low in blood"],[10876]],[34609,"Polychromasia",["Polychromasia on peripheral blood smear"],[4312]],[34610,"Decreased circulating myo-inositol concentration",["Myoinositol low in blood"],[20349]],[34611,"Elevated circulating arabinitol concentration",["Elevated circulating D-arabinitol concentration"],[20349]],[34612,"Elevated urine arabitol level",["Arabitol high in urine"],[31979]],[34613,"Elevated urine erythritol level",["Erythritol high in urine"],[31979]],[34614,"Elevated circulating erythritol concentration",["Erythritol high in blood"],[20349]],[34615,"Decreased circulating matrix metalloproteinase 2 concentration",["Decreased 72 kDa type IV collagenase concentration","Decreased 72 kDa type IV collagenase level","Decreased 72 kDa type IV collagenase level in blood","Reduced 72 kDa type IV collagenase concentration","Reduced 72 kDa type IV collagenase level","Reduced 72 kDa type IV collagenase level in blood"],[10876]],[34616,"Abnormal circulating coenzyme concentration",["Abnormal coenzyme level"],[430071]],[34617,"Elevated circulating S-adenosyl methionine concentration",["S-adenosylmethionine high in blood"],[34616]],[34618,"Abnormal circulating membrane cofactor protein concentration",["Abnormal membrane cofactor protein level"],[10876,32213]],[34619,"Decreased circulating membrane cofactor protein concentration",["Decreased circulating CD46 concentration","Decreased membrane cofactor protein concentration","Decreased membrane cofactor protein level","Decreased membrane cofactor protein level in blood","MCP (membrane cofactor protein) low in blood","Reduced membrane cofactor protein concentration","Reduced membrane cofactor protein level","Reduced membrane cofactor protein level in blood"],[34618]],[34620,"Elevated circulating membrane cofactor protein concentration",["Elevated circulating CD46 concentration","Elevated membrane cofactor protein concentration","Elevated membrane cofactor protein level","Elevated membrane cofactor protein level in blood","Increased membrane cofactor protein concentration","Increased membrane cofactor protein level","Increased membrane cofactor protein level in blood"],[34618]],[34621,"Hepatic xanthomatosis",["Hepatic xanthomas"],[410042]],[34622,"Adrenal xanthomatosis",["Adrenal xanthomas"],[11732]],[34623,"Splenic xanthomatosis",["Spleen xanthomas"],[25408]],[34624,"Spinal cord xanthomatosis",["Spinal cord xanthomas"],[2143]],[34625,"Brain xanthomatosis",["Brain xanthomas","Brain xanthomata"],[12443]],[34626,"Pulmonary xanthomatosis",["Lung xanthoma","Pulmonary xanthoma"],[2088]],[34627,"Bone marrow xanthomatosis",["Bone marrow xanthomas"],[5561]],[34628,"Lymph node xanthomatosis",["Lymph node xanthomas"],[2733]],[34629,"Xanthoma of bone",["Bone xanthoma"],[11842]],[34630,"Ameliorated by folinic acid",["Ameliorated by leucovorin"],[34536]],[34631,"Triggered by succinylcholine anesthetic",["Triggered by suxamethonium"],[4000101]],[34632,"Exogenous androgen exposure",["Androgen exposure, exogenous"],[4000112]],[34633,"Reduced muscle enolase activity",["Muscle biopsy: beta-enolase activity low"],[34526]],[34634,"Dopamine antagonist exposure",["Dopamine antagonist treatment history"],[4000112]],[34635,"Muscle fiber granulofilamentous inclusion bodies",[],[100299]],[34636,"Bone marrow myeloid vacuolization",["Bone marrow: myeloid vacuolization","Vacuolization of bone marrow myeloid precursors"],[12130]],[34637,"Pulmonary cylindroma",[],[100526]],[34638,"Colonic fibrinopurulent exudate",[],[2250]],[34639,"Bloodstream microfilaria",[],[34523]],[34640,"Skin infectious agent",[],[11121]],[34641,"Dermal microfilaria",["Dermal microfilariae"],[34640]],[34642,"Dermal papillary IgA deposition",["Granular IgA deposits at the dermal papillae"],[11124]],[34643,"Dermal immune complex deposition",[],[11121]],[34644,"Abnormal liver metabolite concentration",[],[32243,410042]],[34645,"Hepatic polyglucosan accumulation",["Accumulation of polyglucosan bodies in the liver"],[31137]],[34646,"Urinary bladder neurofibroma",["Bladder neurofibroma"],[9725]],[34647,"Synovial granuloma",[],[5262]],[34648,"Elevated urine fumaric acid level",["Elevated urine fumarate level"],[3215]],[34649,"Elevated urine N-acetylaspartic acid level",["Elevated urinary N-acetylaspartic acid level","N-acetylaspartate high in urine"],[33098]],[34650,"Elevated urine suberylglycine level",["Suberylglycine high in urine"],[31980]],[34651,"Elevated urine phenylpropionylglycine level",["Phenylpropionylglycine present in urine"],[31980]],[34652,"Elevated urine octenedioic acid level",["Octenedioic acid high in urine"],[3215]],[34654,"Elevated urine octanoic acid level",[],[33303]],[34655,"Elevated urine glutaconic acid level",[],[3215]],[34656,"Elevated urine 3-hydroxyglutaric level",["3-hydroxyglutaric acid high in urine"],[3215]],[34657,"Elevated urine malonic acid level",["Malonic acid present in urine"],[3215]],[34658,"Elevated urine propionylglycine level",[],[40156]],[34659,"Elevated urine tiglylglycine level",[],[40156]],[34660,"Elevated urine 2-methylacetoacetic acid level",["2-methylacetoacetic acid present in urine"],[33303]],[34661,"Elevated urine 3-hydroxypropionic acid level",["3-hydroxypropionic acid high in urine"],[33303]],[34662,"Elevated urine 2-methylcitric acid level",["2-methylcitric acid high in urine","Elevated urine 2-methylcitrate level"],[40156]],[34663,"Elevated urine 4-hydroxyisovaleric acid level",["4-hydroxyisovaleric acid present in urine"],[33303]],[34664,"Elevated urine 2-hydroxy-3-methylvaleric acid level",["2-hydroxy-3-methylvaleric acid high in urine"],[40156]],[34665,"Shoulder contracture",[],[3043,100360]],[34666,"Shoulder extension contracture",[],[34665]],[34667,"Thumb extension contracture",[],[9600]],[34668,"Tongue myxoma",[],[30809]],[34669,"Abnormal knee morphology",[],[2815]],[34670,"Abnormal knee physiology",[],[2815]],[34671,"Knee contracture",["Contracture of knee","Contracture of the knees","Knee contractures"],[34669]],[34672,"Knee extension contracture",[],[34671]],[34673,"Abnormal ankle morphology",[],[3028]],[34674,"Abnormal ankle physiology",[],[3028]],[34675,"Toe joint contracture",[],[1780]],[34676,"Extension contracture of toe",[],[34675]],[34677,"Ankle contracture",[],[8366,34673]],[34678,"Forefoot pronation contracture",[],[34677]],[34679,"Forefoot supination contracture",[],[34677]],[34680,"Forefoot adduction contracture",[],[34677]],[34681,"Finger joint contracture",[],[1167,9473]],[34682,"Extension contracture of finger",[],[34681]],[34683,"Reduced muscle telethonin level",["Muscle biopsy: telethonin low or absent"],[30089]],[34684,"Abnormal enzyme concentration or activity",[],[1939]],[34685,"Abnormal liver enzyme activity or concentration",["Abnormal hepatic enzyme activity or concentration"],[6000231]],[34686,"Reduced hepatic urocanase activity",["Liver biopsy: urocanase activity low"],[34685]],[34687,"Impaired cerebroside sulfate hydrolysis",[],[11017]],[34688,"Reduced peroxisomal glutaryl-CoA oxidase activity",[],[12379]],[34689,"Reduced sterol 27-hydroxylase activity",[],[12379]],[34690,"Reduced short-chain acyl-CoA dehydrogenase activity",[],[12379]],[34691,"Reduced 3-phosphoglycerate dehydrogenase activity",[],[12379]],[34692,"Elongated mitochondria",[],[12087]],[34693,"Reduced hepatic methionine adenosyltransferase activity",[],[34685]],[34694,"Substantia nigra dopaminergic neuron loss",["Melanin reduced in substantia nigra"],[45007]],[34696,"Intramuscular lipoma",[],[12032,31460]],[34697,"Cutaneous telangiectasia",[],[1009]],[34698,"Abnormal aromatase activity",[],[34684]],[34699,"Elevated aromatase activity",[],[34698]],[34700,"Reduced aromatase activity",[],[34698]],[34701,"Corneal amyloidosis",[],[20015]],[34702,"Abnormal keratinocyte morphology",[],[11124]],[34703,"Keratinocyte vacuolization",["Keratinocyte vacuolation","Vacuolated keratinocytes"],[34702]],[34704,"Parotid gland adenocarcinoma",[],[12288]],[34705,"Pulmonary vasculitis",["Lung biopsy: vasculitis"],[34784]],[34706,"Reduced hepatic D-glycerate kinase activity",[],[34685]],[34707,"Lymph-node hemophagocytosis",[],[12156]],[34708,"Superior pubic ramus hypoplasia",[],[8830]],[34709,"Uterine adenofibroma",[],[10784]],[34710,"Pulmonary hamartoma",[],[10566,100526]],[34711,"Peripheral axonal distension",[],[759]],[34712,"Decreased circulating alpha-mannosidase activity",[],[4000201]],[34713,"Abnormal hepatocyte morphology",[],[30146]],[34714,"Hepatic melanin-like lysosomal pigmentation",[],[34713]],[34715,"Reduced uroporphyrinogen decarboxylase activity",[],[12379]],[34716,"Reduced heme oxygenase activity",[],[12379]],[34717,"Swollen achromatic neurons in the cerebral cortex",["Cerebral cortex Pick cells","Cerebral cortex swollen achromatic neurons"],[2538]],[34718,"Vacuolated hepatocytes",["Hepatocyte vacuolization"],[34713]],[34719,"Lack of oocyte pronucleus formation",[],[33338]],[34720,"Self-healing squamous epithelioma",[],[8069]],[34721,"Elevated circulating pristanic acid concentration",[],[10964]],[34722,"Sarcoplasmic bodies",[],[100299]],[34723,"Elevated CSF hydroxyproline concentration",[],[25454]],[34724,"Reduced CSF cystine concentration",["Cystine low in CSF"],[500184]],[34725,"Abnormal circulating beta-mannosidase activity",[],[12379]],[34726,"Elevated circulating beta-mannosidase activity",["Beta-mannosidase high in blood"],[34725]],[34727,"Reduced circulating alpha-L-fucosidase activity",[],[34728]],[34728,"Abnormal circulating alpha-L-fucosidase activity",[],[12379]],[34729,"Elevated circulating alpha-L-fucosidase activity",[],[34728]],[34730,"Elevated circulating S-adenosyl-L-homocysteine concentration",["Elevated AdoHcy concentration"],[33109]],[34731,"Elevated circulating S-adenosyl-L-methionine concentration",["High blood AdoMet"],[33109]],[34732,"Exercise-triggered malignant hyperthermia",["Exertional heat stroke","Malignant hyperthermia due to exercise"],[2047]],[34733,"Anesthesic-triggered malignant hyperthermia",["Malignant hyperthermia with anaesthesia","Malignant hyperthermia with anesthesia"],[2047]],[34734,"Elevated CSF argininosuccinic acid concentration",["Argininosuccinic acid high in CSF"],[500184]],[34735,"Elevated CSF aspartylglucosamine concentration",["Aspartylglucosamine high in CSF"],[500184]],[34736,"Elevated circulating alpha-oxoadipic acid concentration",["Alpha-oxoadipic acid high in blood"],[10995]],[34737,"Abnormal erythrocyte metabolite concentration",[],[1877,32243]],[34738,"Reduced erythrocyte glutathione concentration",[],[34737]],[34739,"Elevated CSF sarcosine concentration",["Sarcosine high in CSF"],[500225]],[34740,"Reduced CSF methionine concentration",["Methionine low in CSF"],[500209]],[34741,"Elevated circulating homoarginine concentration",["Homoarginine high in blood"],[33109]],[34742,"Elevated urinary formiminoglutamic acid level",["Formiminoglutamic acid high in urine"],[3215]],[34743,"Elevated CSF proline concentration",[],[500184]],[34744,"Elevated urinary S-sulfocysteine level",["S-sulfocysteine high in urine"],[33098]],[34745,"Elevated circulating S-sulfocysteine concentration",["S-sulfocysteine high in blood"],[33109]],[34746,"Sertoli cell hyperplasia",[],[35]],[34747,"CSF infectious agent",[],[2921]],[34748,"CSF mycobacteria",[],[34429]],[34749,"Fungemia",["Fungaemia","Fungal bloodstream infection","Fungi in blood","Presence of fungi in the blood"],[31863]],[34750,"Supraclavicular lymphadenopathy",[],[2716]],[34751,"Inguinal lymphadenopathy",[],[2716]],[34752,"Axillary lymphadenopathy",[],[2716]],[34753,"Positive Murphy sign",["Murphy's sign","Murphy's sign positive","Sweeney's sign"],[11458]],[34754,"Bilious emesis",[],[2013]],[34755,"Ameliorated by NSAID",["Ameliorated by nonsteroidal anti-inflammatory drug"],[34536]],[34756,"Fetal exposure history",["Fetal medication or drug exposure","Foetal medication or drug exposure","Maternal exposure history"],[2686,4000110]],[34757,"Fetal barbiturate exposure",["Maternal barbiturate use"],[34756]],[34758,"Fetal narcotic exposure",["Maternal narcotic exposure"],[34756]],[34759,"Ameliorated by ethosuximide",[],[25254]],[34760,"Reduced epidermal extracellular matrix protein 1 protein expression",["Reduced epidermal ECM1 protein expression"],[34573]],[34761,"Neurofibroma by anatomical location",[],[1067]],[34762,"Tongue neurofibroma",[],[34761]],[34763,"Cardiac neurofibroma",[],[34761]],[34764,"Gastric neurofibroma",[],[34761]],[34765,"Renal neurofibroma",[],[34761]],[34766,"Muscle fiber polyglucosan inclusion bodies",["Muscle biopsy: polyglucosan accumulation"],[100299]],[34767,"Abnormal rete ridge morphology",[],[11124]],[34768,"Rete ridge elongation",["Elongation of rete ridges","Rete ridges elongated"],[34767]],[34769,"Pulmonary Langerhans cell histiocytosis",[],[6530]],[34770,"Lumbar hypolordosis",["Reduced lumbar lordosis"],[10674]],[34771,"Battle sign",["Battle sign bruise","Battle's sign"],[31364]],[34772,"Decreased skull base length",["Decreased cranial base length","Short skull base"],[2693]],[34773,"Oscillopsia",[],[504]],[34774,"Decreased blink rate",["Blinking reduced"],[34775]],[34775,"Abnormal blink rate",[],[504]],[34776,"Elevated blink rate",[],[34775]],[34777,"Purulent sputum",[],[32016]],[34778,"Maternal hyperthyroidism",[],[2686]],[34779,"Perineal",["Perineal distribution to finding","Perineal location"],[12836]],[34780,"Gadolinium exposure",[],[4000110]],[34781,"Purulent parotid gland drainage",["Purulent Stensen duct drainage","Purulent drainage from Stensen duct"],[197]],[34782,"Obstipation",["Lack of flatulence","No gas passage","Tympanic distended abdomen"],[2019]],[34783,"Posttussive emesis",[],[2013]],[34784,"Vasculitis by anatomical site",[],[2633]],[34785,"Vasculitis by histology",[],[2633]],[34786,"Leukocytoclastic vasculitis",[],[34785]],[34787,"Accumulation of lipid droplets in small-bowel enterocytes",[],[25129]],[34788,"Pericardial friction rub",["Cardiac rub"],[31657]],[34789,"Muscular vasculitis",["Skeletal muscle vasculitis"],[34784]],[34790,"Abnormal muscle succinate dehydrogenase staining",[],[34510]],[34791,"Increased muscle succinate dehydrogenase staining",[],[34790]],[34792,"Decreased muscle succinate dehydrogenase staining",[],[34790]],[34793,"Small intestinal hamartoma",[],[10566,100833]],[34794,"Pyriform sperm head",["Pyriform head"],[12865]],[34795,"Excess residual spermatozoal cytoplasm",[],[12864]],[34796,"Cardiomyocyte hyaline bodies",[],[31334]],[34797,"Hepatic hemophagocytosis",[],[12156]],[34798,"CSF hemophagocytosis",["Hemophagocytosis in CSF"],[12156]],[34799,"Splenic hemophagocytosis",["Spleen hemophagocytosis"],[12156]],[34800,"Urinary bladder granulomatosis",["Urinary bladder granulomas"],[2955]],[34801,"Epidermal necrosis",[],[11124]],[34802,"Exacerbated by flexion",[],[25285]],[34803,"Hemolacria",["Bloody epiphora","Bloody tears","Red tears"],[632]],[34804,"Corneal foreign body sensation",["Conjunctival foreign body sensation","Foreign body sensation in the eye"],[12373]],[34805,"Buttock pain",[],[12531]],[34806,"Vaginal foreign body sensation",[],[34268]],[34807,"Paroxysmal nocturnal dyspnea",[],[2094]],[34808,"Eyelid pain",[],[12531,31879]],[34809,"Abnormal sperm physiology",[],[25]],[34810,"Small acrosomal area",[],[12865]],[34811,"Bent sperm flagella",[],[12868]],[34812,"Spermiation failure",[],[11961]],[34813,"Hypospermatogenesis",[],[8669]],[34814,"Conjunctival membrane",[],[502]],[34815,"Extreme oligozoospermia",[],[798]],[34816,"Mild oligozoospermia",[],[798]],[34817,"Moderate oligozoospermia",[],[798]],[34818,"Severe oligozoospermia",[],[798]],[34819,"Iris nodule",[],[525]],[34820,"Koeppe nodules",["Koeppe iris nodules","Koeppe's nodules"],[34819]],[34821,"Bussaca nodules",[],[34819]],[34822,"Abnormal CSF ion concentration",[],[2921]],[34823,"Decreased CSF copper concentration",["Copper low in cerebrospinal fluid"],[34822]],[34824,"Diffuse pulmonary lymphoid hyperplasia",[],[33582]],[34825,"Ameliorated by steroid medication",[],[34536]],[34827,"Triggered by levothyroxin exposure",[],[4000101]],[34828,"Reduced muscle laminin alpha-2 chain staining",[],[34510]],[34829,"Adrenal cortical sclerosis",[],[11732]],[34830,"Reduced hepatic fructose-1,6-phosphate aldolase activity",[],[34685]],[34831,"Pancreatic hamartoma",[],[10566]],[34832,"Liver angiomyolipoma",["Hepatic angiomyolipoma"],[34514]],[34833,"Cardiac lipoma",[],[12032]],[34834,"Peripheral nerve polyglucosan inclusion bodies",[],[759]],[34835,"Cardiac polyglucosan accumulation",[],[1637]],[34836,"Cystic nephroma",["Bbenign multilocular cystic nephroma","Multicystic nephroma","Multilocular cystic renal tumor","Multilocular cystic renal tumour","Polycystic nephroblastoma"],[9726]],[34837,"Absent dermal elastic fibers",[],[25082]],[34838,"Cleavage at junction of stratum corneum and stratum granulosum",[],[33802]],[34839,"Lymphoid hyperplasia",[],[5561]],[34840,"Absence of epidermal lamellar bodies",[],[11124]],[34841,"Gastrointestinal granulomatosis",[],[2955]],[34842,"Enlarged sperm head vacuole",[],[12865]],[34843,"Ureteral hamartoma",[],[10566,100516]],[34844,"Fetal methimazole exposure",["Maternal methimazole exposure","Methimazole exposure during gestation"],[34756]],[34845,"Fetal procarbazine exposure",["Maternal procarbazine exposure","Procarbazine exposure during gestation"],[34756]],[34846,"Fetal fluorouracil exposure",["Fluorouracil exposure during gestation","Maternal fluorouracil exposure"],[34756]],[34847,"Fetal cytarabine exposure",["Cytarabine exposure during gestation","Maternal cytarabine exposure"],[34756]],[34848,"Fetal tetracycline exposure",["Maternal tetracycline exposure","Tetracycline exposure during gestation"],[34756]],[34849,"Fetal quinine exposure",["Maternal quinine exposure","Quinine exposure during gestation"],[34756]],[34850,"Fetal cyclophosphamide exposure",["Cyclophosphamide exposure during gestation","Maternal cyclophosphamide exposure"],[34756]],[34851,"Fetal metronidazole exposure",["Maternal metronidazole exposure","Metronidazole exposure during gestation"],[34756]],[34852,"Fetal phenobarbital exposure",["Maternal phenobarbital exposure","Phenobarbital exposure during gestation"],[34756]],[34853,"Fetal phenytoin exposure",["Maternal phenytoin exposure","Phenytoin exposure during gestation"],[34756]],[34854,"Periumbilical",[],[12836]],[34855,"Maternal obesity during pregnancy",[],[2686]],[34856,"Maternal amniocentesis",[],[2686]],[34857,"Typified by highly variable age of onset",[],[34335]],[34858,"Abnormal leukocyte enzyme concentration or activity",[],[34684]],[34859,"Reduced tissue beta-glucuronidase activity",["Beta-glucuronidase low in leukocytes","Reduced beta-glucuronidase activity in cultured fibroblasts","Reduced leukocyte beta-glucuronidase activity"],[6000231]],[34860,"Reduced leukocyte alpha-L-fucosidase activity",[],[34858]],[34861,"Reduced leukocyte arylsulfatase B activity",[],[34858]],[34862,"Reduced leukocyte steroid sulfatase activity",["Reduced leukocyte arylsulfatase C activity"],[34858]],[34863,"Reduced leukocyte arylsulfatase A activity",[],[34858]],[34864,"Decreased alpha-galactosidase A activity",[],[12379]],[34865,"Positive fecal parasite test",["Positive stool parasite test","Parasites present on wet mount of stool"],[34866]],[34866,"Positive stool infectious agent test",[],[31685,430030]],[34867,"Positive stool giardia antigen",[],[34866]],[34868,"Entamoeba histolytica antibody positive in stool",[],[34866]],[34869,"Reduced erythrocyte free porphyrin concentration",[],[10472]],[34870,"Reduced circulating urocanic acid concentration",["Urocanic acid low in blood"],[10996]],[34871,"Decreased urinary epinephrine level",[],[45012]],[34872,"Decreased CSF epinephrine concentration",[],[25454]],[34873,"Decreased circulating epinephrine concentration",[],[3117]],[34874,"Decreased circulating norepinephrine concentration",[],[3117]],[34875,"Decreased urinary norepinephrine level",[],[45012]],[34876,"Decreased urinary metaepinephrine level",[],[45012]],[34877,"Decreased CSF metanephrine concentration",[],[25454]],[34878,"Decreased circulating metanephrine concentration",[],[3117]],[34879,"Ovarian mass",[],[31065]],[34880,"Adrenal mass",[],[11732]],[34881,"Uterine mass",[],[31105]],[34882,"Prostatic calculus",["Prostatic calcul"],[8775]],[34883,"Decreased portal vein velocity",["Reduced portal venous flow"],[31865]],[34884,"Uterine cervix mass",[],[12888]],[34885,"Abnormal urinary uromodulin level",[],[20129]],[34886,"Decreased urinary uromodulin level",["Uromodulin low in urine"],[34885]],[34887,"Increased urine phenylacetylglutamine level",[],[33097]],[34888,"Decreased urine guanidinoacetic acid level",[],[40418]],[34889,"Positive urine infectious agent nucleic acid test",[],[3110,25795]],[34890,"Positive CMV urine nucleic acid test",["Cytomegalovirus (CMV) PCR in urine positive","Positive cytomegalovirus urine nucleic acid test"],[34889]],[34891,"Positive Neisseria gonorrhoeae urine nucleic acid test",["Neisseria gonorrhoeae PCR positive in urine"],[34889]],[34892,"Positive enterovirus urine nucleic acid test",["Enterovirus RT-PCR in urine"],[34889]],[34893,"Elevated brain glycine level by MRS",[],[12705]],[34894,"Elevated brain polyol compounds by MRS",[],[12705]],[34895,"Elevated brain gamma-aminobutyric acid by MRS",["Elevated brain GABA by MRS"],[12705]],[34896,"History of recent anticoagulant ingestion",[],[4000144]],[34897,"Decreased circulating antidiuretic hormone concentration",[],[3117]],[34898,"Elevated circulating growth hormone-releasing hormone concentration",[],[3117]],[34899,"Abnormal amniotic fluid protein concentration",[],[1560]],[34900,"Decreased amniotic fluid alpha-fetoprotein concentration",[],[34899]],[34901,"Increased circulating vitamin E concentration",[],[100514]],[34902,"Abnormal circulating calcitonin concentration",[],[100530]],[34903,"Decreased circulating calcitonin concentration",["Calcitonin low in blood"],[34902]],[34904,"Decreased circulating thyrotropin releasing hormone concentration",["Decreased circulating TRH concentration","Thyrotropin releasing hormone (TRH) low in blood"],[3117]],[34905,"Elevated circulating uroporphyrin concentration",[],[34606]],[34906,"Increased urine pentacarboxylporphyrin level",["Pentacarboxylporphyrin high in urine"],[10473]],[34907,"Increased urine hexacarboxylporphyrin level",["Hexacarboxylporphyrin high in urine"],[10473]],[34908,"Increased circulating dehydroepiandrosterone concentration",["Dehydroepiandrosterone high in blood"],[500022]],[34909,"Increased erythrocyte coproporphyrin concentration",[],[34606]],[34910,"Increased erythrocyte uroproporphyrin concentration",["Uroporphyrin high in erythrocytes"],[34606]],[34911,"Decreased circulating apolipoprotein E concentration",["Decreased apolipoprotein E concentration","Decreased apolipoprotein E level","Decreased apolipoprotein E level in blood","Reduced apolipoprotein E concentration","Reduced apolipoprotein E level","Reduced apolipoprotein E level in blood"],[33459]],[34912,"Elevated circulating apolipoprotein E concentration",["Elevated apolipoprotein E concentration","Elevated apolipoprotein E level","Elevated apolipoprotein E level in blood","Increased apolipoprotein E concentration","Increased apolipoprotein E level","Increased apolipoprotein E level in blood"],[33460]],[34913,"Acrosomal hypoplasia",[],[12865]],[34914,"Oocyte maturation arrest",[],[33338]],[34915,"Abnormal anus morphology",[],[4378,25033]],[34916,"Abnormal anus physiology",[],[4378,25032]],[34917,"Weak anal sphincter tone",[],[34916]],[34918,"Reduced muscle 2,4-dienoyl-CoA reductase activity",["Muscle biopsy: 2,4-dienoyl-CoA reductase activity low"],[34526]],[34919,"Reduced liver 2,4-dienoyl-CoA reductase activity",[],[34685]],[34920,"Nasal mucosa vasculitis",[],[433]],[34921,"Pituitary blastoma",[],[11750]],[34922,"Peripheral axon spheroid formation",[],[759]],[34923,"Reduced liver carboxylesterase 1 activity",[],[34685]],[34924,"Abnormal dermis morphology",[],[11121]],[34925,"Perivascular dermis hyaline deposition",[],[34924]],[34926,"Perivascular small intestinal hyaline deposition",[],[2244]],[34927,"Large keratohyaline granules",[],[33806,34702]],[34928,"Decreased muscle lipoic acid content",["Muscle biopsy: lipoic acid low"],[34370]],[34929,"Reduced hepatic cystathionine gamma-lyase activity",["Reduced hepatic cystathionase activity"],[34685]],[34930,"Digestive system neoplasm",[],[11793,25031]],[34931,"Lumbar spondylosis",["Lumbar spine osteoarthritis"],[100712]],[34932,"Decreased circulating acid maltase activity",["Decreased alpha-1,4-glucosidase activity"],[12379]],[34934,"Abnormal circulating 7-dehydrocholesterol concentration",["Abnormal 7-dehydrocholesterol level"],[3107]],[34935,"Decreased circulating 7-dehydrocholesterol concentration",[],[34934]],[34936,"Elevated circulating lathosterol concentration",[],[3107]],[34937,"Elevated circulating desmosterol concentration",[],[3107]],[34938,"Decreased circulating sialic acid concentration",[],[20347]],[34939,"Purulent synovial fluid",[],[25850]],[34940,"Muscle fiber calsequestrin 1-containing inclusion bodies",[],[100299]],[34941,"Palatine myxoma",[],[31366]],[34942,"Vaginal myxoma",[],[100650]],[34943,"Decreased dermal collagen",[],[31512]],[34944,"Irregularly shaped keratohyaline granules",[],[33806]],[34945,"Tubular shadows",[],[35]],[34946,"Multiple eyelid margin cysts",["Multiple eyelid-margin apocrine hidrocystomas"],[492]],[34947,"Altered location of the longitudinal column in the fibrous sheath",[],[12868]],[34948,"Uterine myxoma",[],[10784]],[34949,"Uterine cervix myxoma",[],[10784]],[34950,"Typified by complete penetrance",[],[34335]],[34951,"Osteochondromyxoma",[],[10622]],[34952,"Gangliocytoma",[],[30693]],[34953,"Duodenal gastrinoma",[],[100833]],[34954,"Thymic carcinoid tumor",[],[100521]],[34955,"Bone marrow eosinophilia",["Eosinophils increased in bone marrow"],[12135]],[34956,"Exacerbated by lithium exposure",[],[4000176]],[34957,"Reduced hepatic glycogen debrancher enzyme activity",[],[34685]],[34958,"Asymmetrical insertion of the midpiece into the head",["Asymmetrical insertion of sperm neck"],[12867]],[34959,"Bent sperm neck",[],[12866]],[34960,"Elevated urine 3,6-epoxydicarboxylic acid level",[],[3215]],[34961,"Gallbladder biliary sludging",[],[12437]],[34962,"Exacerbated by amiodarone exposure",[],[4000176]],[34963,"Ureteral mass",[],[25633]],[34964,"Wide cavum septum pellucidum",[],[7375]],[34965,"Hypoplastic trochlear nerve",["Hypoplasia of cranial nerve IV"],[1291]],[34966,"Thymic cyst",[],[777]],[34967,"Uterine cyst",[],[31105]],[34968,"Urinary bladder mass",[],[25487]],[34969,"Endosteal scalloping",[],[940]],[34970,"Urinary bladder hamartoma",[],[9725,10566]],[34971,"Peritoneal mass",[],[2585]],[34972,"Fallopian tube mass",[],[11027]],[34973,"Aplasia of the pyramids of the medulla oblongata",[],[11441]],[34974,"Bathrocephaly",[],[2683]],[34975,"Occipital horn",[],[12294]],[34976,"Absent pituitary stalk",[],[34977]],[34977,"Abnormal pituitary stalk morphology",[],[864]],[34978,"Interrupted pituitary stalk",[],[34977]],[34979,"Facial synkinesis",[],[34980]],[34980,"Synkinesis",[],[100022]],[34981,"Exposure to birds",[],[4000110]],[34982,"Perianal anesthesia",[],[33748]],[34983,"Failure of phenylephrine to induce blanching of eye redness",["Phenylephrine does not induce blanching of eye redness"],[100533]],[34984,"Fetal alcohol exposure",["Alcohol during pregnancy","Alcohol exposure before birth","Alcohol exposure during gestation","Alcohol exposure during pregnancy","Alcohol exposure in pregnancy","Alcohol use during pregnancy","Antenatal ETOH exposure","Antenatal alcohol exposure","Exposure to alcohol during gestation","Exposure to alcohol in the womb","Exposure to alcohol in utero","Prenatal ETOH exposure","Prenatal alcohol exposure","Prenatal exposure to ETOH","Prenatal exposure to alcohol"],[34756]],[34985,"Reduced cellular cobalamin uptake",[],[11017]],[34986,"Focal necrotic brainstem lesion",[],[2363]],[34987,"Focal necrotic optic nerve lesion",[],[587]],[34988,"Focal necrotic thalamus lesion",[],[10663]],[34989,"Interstitial dermal edema",[],[34924]],[34990,"Shoulder abduction contracture",["Abduction contracture of the shoulder"],[34665]],[34991,"Shoulder external rotation contracture",["External rotation contracture of the shoulder joint"],[34665]],[34992,"Thumb adduction contracture",[],[9600]],[34993,"Hip internal rotation contracture",[],[3273]],[34995,"Reduced tissue fructose-1,6-bisphosphatase activity",["Reduced hepatic fructose-1,6-bisphosphatase activity","Reduced leukocyte fructose-1,6-bisphosphatase activity"],[6000231]],[34996,"Reduced hepatic carbamoylphosphate synthetase 1 activity",[],[34685]],[34997,"Reduced intraepidermal small nerve fiber density",[],[759]],[34998,"Femoral artery duplication",[],[35012]],[34999,"Intracellular accumulation of collagen VII",[],[31512]],[35000,"Reduced reticular lamina anchoring fibril density",[],[31512]],[35001,"Reduced lamina lucida anchoring filament density",[],[31512]],[35002,"Reduced epidermal keratin 5 protein expression",[],[35004]],[35003,"Reduced epidermal keratin 14 protein expression",[],[35004]],[35004,"Reduced epidermal keratin protein expression",[],[34573]],[35005,"Reduced hepatic alanine-glyoxylate aminotransferase activity",[],[34685]],[35006,"Hepatic sinusoidal dilatation",[],[30146]],[35007,"Thin spermatozoon midpiece",["Thin spermatozoon neck"],[12867]],[35008,"Thick spermatozoon midpiece insertion",[],[12867]],[35009,"Shoulder adduction contracture",["Adduction contracture of the shoulder"],[34665]],[35010,"Occupational exposure history",[],[4000110]],[35011,"Occupational silver exposure",[],[35010]],[35012,"Abnormal femoral artery morphology",[],[11004]],[35013,"Abnormal extrahepatic bile duct morphology",[],[12440]],[35014,"Extrahepatic bile duct fibrosis",[],[35013]],[35015,"Elevated circulating short-chain acylcarnitine concentration",[],[45045]],[35016,"Elevated circulating C4-acylcarnitine concentration",["Elevated C4-acylcarnitine concentration","Elevated C4-acylcarnitine level","Elevated C4-acylcarnitine level in blood","Increased C4-acylcarnitine concentration","Increased C4-acylcarnitine level","Increased C4-acylcarnitine level in blood"],[35015]],[35017,"Elevated circulating medium-chain acylcarnitine concentration",[],[45045]],[35018,"Elevated circulating long-chain acylcarnitine concentration",[],[45045]],[35019,"Elevated circulating C5 acylcarnitine concentration",[],[35015]],[35020,"Elevated circulating C18 acylcarnitine concentration",[],[35018]],[35021,"Elevated circulating C16 acylcarnitine concentration",[],[35018]],[35022,"Elevated circulating very long-chain acylcarnitine concentration",[],[45045]],[35023,"Elevated circulating acetylcarnitine concentration",["Elevated circulating C2 acylcarnitine concentration"],[35015]],[35024,"Elevated circulating methylmalonylcarnitine concentration",["Elevated circulating C4-DC acylcarnitine concentration","Methylmalonylcarnitine (C4-DC) high in blood"],[35016]],[35025,"Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration",["Elevated circulating C16-OH acylcarnitine concentration"],[35021]],[35026,"Elevated circulating C6 acylcarnitine concentration",[],[35017]],[35027,"Elevated circulating methylglutarylcarnitine concentration",["Elevated O-methylglutarylcarnitine concentration","Elevated O-methylglutarylcarnitine level","Elevated O-methylglutarylcarnitine level in blood","Elevated circulating C6-DC acylcarnitine concentration","Increased O-methylglutarylcarnitine concentration","Increased O-methylglutarylcarnitine level","Increased O-methylglutarylcarnitine level in blood"],[35026]],[35028,"Elevated circulating 3-hydroxyisovalerylcarnitine concentration",["Elevated circulating C5-OH acylcarnitine concentration"],[35019]],[35029,"Elevated circulating 3-hydroxyhexanoylcarnitine concentration",["Elevating circulating C6-OH acylcarnitine concentration"],[35026]],[35030,"Elevated circulating carnitine concentration",["Elevated carnitine concentration","Elevated carnitine level","Elevated carnitine level in blood","Increased carnitine concentration","Increased carnitine level","Increased carnitine level in blood"],[10967]],[35031,"Elevated circulating tiglylcarnitine concentration",["Elevated circulating C5:1 acylcarnitine concentration"],[35019]],[35032,"Reduced circulating acetylcarnitine concentration",["Reduced circulating C2 acylcarnitine concentration"],[33445]],[35033,"Decreased circulating octadecenoylcarnitine concentration",["Decreased O-octadecenoylcarnitine concentration","Decreased O-octadecenoylcarnitine level","Decreased O-octadecenoylcarnitine level in blood","Reduced O-octadecenoylcarnitine concentration","Reduced O-octadecenoylcarnitine level","Reduced O-octadecenoylcarnitine level in blood","Reduced circulating C18:1 acylcarnitine concentration"],[33445]],[40004,"Abnormality of corneal shape",[],[481]],[40006,"Mortality/Aging",[],[31797]],[40007,"Absent pigmentation of chest",["Lack of skin coloring on chest","Lack of skin colouring on chest"],[200098]],[40008,"Aplasia of facial bones",["Failure of development of facial skeleton","Absence of facial bones","Agenesis of facial bones","Aplasia of facial skeleton","Failure of development of facial bones","Missing facial bones"],[34261]],[40009,"Hyperparakeratosis",["Parahyperkeratosis","Parakeratotic hyperkeratosis"],[962,1036]],[40010,"Small posterior fossa",[],[932]],[40011,"Flat posterior fossa",[],[932]],[40012,"Chromosome breakage",["High frequency of chromosome breaks in lymphocytes","Increased chromosomal breakage","Increased chromosomal breakage rate","Multiple chromosomal breaks","Tendency to chromosomal breakage"],[3220]],[40013,"Decreased mitochondrial number",[],[12102]],[40014,"Increased mitochondrial number",[],[12102]],[40015,"Increased activity of mitochondrial respiratory chain",[],[11922]],[40016,"Prominent coccyx",["Prominent tailbone"],[8519]],[40017,"Protruding coccyx",["Protruding tailbone"],[8519]],[40018,"Clinodactyly of hallux",["Curvature of big toe"],[1863,10051]],[40019,"Finger clinodactyly",["Curvature of finger"],[4097,30084]],[40020,"Radial deviation of the 5th finger",[],[9179,9466]],[40022,"Clinodactyly of the 2nd finger",["Curvature of index finger","Second finger clinodactyly"],[9468,40019]],[40023,"Clinodactyly of the thumb",["Curvature of thumb"],[9603,40019]],[40024,"Clinodactyly of the 3rd finger",["Curvature of middle finger"],[9317,40019]],[40025,"Clinodactyly of the 4th finger",["Curvature of ring finger"],[9273,40019]],[40030,"Chorioretinal hypopigmentation",[],[7661]],[40031,"Chorioretinal hyperpigmentation",[],[7661]],[40032,"Hypoplasia of the upper eyelids",["Small upper eyelid","Decreased size of upper eyelid","Underdevelopment of upper eyelid","Short upper eyelid","Hypotrophic upper eyelid"],[430009]],[40033,"Aplasia/Hypoplasia of the fifth metatarsal bone",["Absent/small 5th long bone of foot","Absent/underdeveloped 5th long bone of foot"],[1964,8089]],[40034,"Abnormality of the second metatarsal bone",["Abnormality of the 2nd long bone of foot"],[1832]],[40035,"Abnormality of the fourth metatarsal bone",["Abnormality of the 4th long bone of foot"],[1832]],[40036,"Onychogryphosis of fingernail",["Overgrowth and curving of fingernail"],[1805]],[40039,"Onycholysis of fingernails",["Detachment of fingernails","Onycholysis of fingernail"],[1231,1806]],[40040,"Toenail onycholysis",["Detachment of toenails","Onycholysis of toenails"],[1806,8388]],[40042,"Aplasia of the eccrine sweat glands",["Absent eccrine sweat glands"],[7592,11136]],[40043,"Hypoplasia of the eccrine sweat glands",["Underdeveloped major sweat glands"],[7387,7592]],[40044,"Hypoplasia of the diaphragm",["Underdeveloped diaphragm"],[10315]],[40045,"Abnormal hemidiaphragm morphology",["Abnormality of the hemidiaphragms"],[775]],[40046,"Abnormal left hemidiaphragm morphology",["Abnormality of the left hemidiaphragm"],[40045]],[40047,"Abnormal right hemidiaphragm morphology",["Abnormality of the right hemidiaphragm"],[40045]],[40049,"Macular edema",["Macular oedema"],[30498,31527]],[40050,"Sparse upper eyelashes",["Hypotrichosis of upper eyelashes","Partial absence of upper eyelashes"],[653,40051]],[40051,"Abnormality of upper eyelashes",[],[499]],[40052,"Abnormality of lower eyelashes",[],[499]],[40053,"Long lower eyelashes",["Ciliary trichomegaly of lower eyelashes","Increased length of lower eyelashes"],[527,40052]],[40054,"Short upper eyelashes",["Decreased length of upper eyelashes"],[10764,40051]],[40055,"Short lower eyelashes",["Decreased length of lower eyelashes"],[10764,40052]],[40056,"Absent upper eyelashes",["Atrichia of upper eyelashes","Failure of development of upper eyelashes","Agenesis of upper eyelashes","Aplasia of upper eyelashes"],[561]],[40057,"Abnormal nasal hair morphology",["Abnormality of nasal hair","Abnormality of nose hair"],[5105]],[40059,"Calcification of ribs",[],[772,10766]],[40061,"Osteosclerosis of the radius",[],[2818,3967]],[40062,"Slender radius",[],[3100,3969,45008]],[40063,"Decreased adipose tissue",["Decreased fat tissue"],[9124]],[40064,"Abnormality of limbs",["Abnormal limbs","Limb anomaly","Dysmelia"],[118]],[40068,"Abnormality of limb bone",[],[924,40064]],[40069,"Abnormal lower limb bone morphology",["Abnormal morphology of bones of the lower limbs","Abnormal shape of bones of the lower limbs","Abnormality of lower limb bone"],[2813,2814]],[40070,"Abnormal upper limb bone morphology",["Abnormal morphology of bones of the upper limbs","Abnormal shape of bones of the upper limbs","Abnormality of upper limb bone"],[2813,2817]],[40071,"Abnormal morphology of ulna",[],[11314,40072]],[40072,"Abnormal forearm bone morphology",["Abnormality of forearm bone"],[2973,40070]],[40075,"Hypopituitarism",[],[11747]],[40078,"Axonal degeneration",[],[764]],[40079,"Irregular dentition",["Irregular teeth"],[6482]],[40080,"Anteverted ears",[],[357]],[40081,"Abnormal circulating creatine kinase activity",["Abnormal circulating CK concentration","Abnormal circulating CPK concentration","Abnormal circulation phospho-CK concentration","Abnormal creatine kinase level","Abnormal levels of creatine kinase in blood"],[11021]],[40082,"Happy demeanor",["Happy demeanour"],[5200261]],[40084,"Abnormal circulating renin concentration",["Abnormal circulating renin","Abnormal plasma renin"],[847]],[40085,"Abnormal circulating aldosterone concentration",["Abnormal circulating aldosterone","Abnormal plasma aldosterone"],[847]],[40086,"Abnormal prolactin level",[],[830]],[40087,"Abnormal circulating folate concentration",["Abnormal blood folate concentration","Abnormal serum folate","Abnormality of folate in blood","Abnormality of folate metabolism"],[20350]],[40088,"Abnormal lymphocyte count",["Abnormal lymphocyte counts","Abnormal number of lymphocytes","Abnormal numbers of lymphocytes","Abnormality of lymphocyte number"],[4332,11893]],[40089,"Abnormal total natural killer cell count",["Abnormal NK cell count","Abnormal number of natural killer cells","Abnormality of natural killer cell count"],[12176]],[40090,"Abnormal tympanic membrane morphology",["Abnormality of the eardrum","Abnormality of the tympanic membrane"],[356,370]],[40091,"Asymmetry of the size of ears",[],[10722]],[40092,"Asymmetry of the shape of the ears",[],[10722]],[40093,"Asymmetry of the position of the ears",["Uneven ears"],[10722]],[40095,"Neoplasm of the outer ear",["Outer ear tumor","Outer ear tumour"],[356,12780]],[40096,"Neoplasm of the inner ear",["Inner ear tumor","Inner ear tumour"],[359,12780]],[40097,"Neoplasm of the ceruminal gland",["Adenoma of the ceruminous gland","Ceruminoma","Ceruminous adenoma"],[40095]],[40098,"Basalioma of the outer ear",[],[2671,40095]],[40099,"Abnormality of the round window",[],[359,370]],[40100,"Abnormality of the vestibular window",["Abnormality of the oval window"],[359,370]],[40101,"Cutaneous atresia of the external auditory canal",[],[413]],[40102,"Osseous atresia of the external auditory canal",[],[413]],[40103,"Acquired stenosis of the external ear canal",["Acquired medial canal fibrosis","Cutaneous stenosis of the external auditory canal","Medial meatal fibrosis","Obliterative otitis externa"],[402]],[40104,"Osseous stenosis of the external auditory canal",[],[402]],[40106,"Abnormal lateral semicircular canal morphology",["Morphological abnormality of the horizontal semicircular canal","Morphological abnormality of the lateral semicircular canal"],[11380]],[40107,"Abnormal posterior semicircular canal morphology",["Morphological abnormality of the posterior semicircular canal"],[11380]],[40108,"Abnormal anterior semicircular canal morphology",["Morphological abnormality of the anterior semicircular canal"],[11380]],[40109,"Abnormal utricle morphology",["Morphological abnormality of the utricle"],[11380]],[40112,"Abnormal number of tubercles",[],[377]],[40113,"Old-aged sensorineural hearing impairment",["Presbycusis"],[407]],[40114,"Absence of the reflex of the tensor tympani muscle",[],[40120]],[40115,"Abnormal Eustachian tube morphology",["Abnormality of the Eustachian tube"],[370]],[40116,"Aplasia of the Eustachian tube",["Absent eustachian tube"],[40115]],[40117,"Atresia of the Eustachian tube",[],[40115]],[40118,"Stenosis of the Eustachian tube",[],[40115]],[40119,"Unilateral conductive hearing impairment",[],[405]],[40120,"Abnormality of the reflex of the tensor tympani muscle",[],[4454]],[40121,"Abnormality of the acoustic reflex",["Abnormal auditory reflex","Abnormal middle-ear-muscles (MEM) reflex","Abnormality of stapedial reflex"],[4454]],[40122,"Impairment of the the acoustic reflex",[],[40121]],[40123,"Impairment of the reflex of the tensor tympani muscle",[],[40120]],[40127,"Abnormal sweat homeostasis",[],[12337]],[40128,"Abnormal sweat electrolytes",[],[40127]],[40129,"Abnormal nerve conduction velocity",["Abnormal nerve conduction","Abnormal nerve conduction velocities","Nerve conduction abnormalities"],[3134]],[40130,"Abnormal circulating iron concentration",["Abnormal serum iron concentration"],[11031]],[40131,"Abnormal motor nerve conduction velocity",[],[40129]],[40132,"Abnormal sensory nerve conduction velocity",[],[40129]],[40133,"Abnormal circulating ferritin concentration",["Abnormal plasma ferritin","Abnormal serum ferritin"],[10876]],[40134,"Abnormal hepatic iron concentration",["Abnormal liver iron concentration","Abnormal liver iron level"],[34644]],[40135,"Abnormal transferrin saturation",[],[11031]],[40137,"Comedonal acne",["Comedogenic acne"],[1061]],[40138,"Mucinous histiocytosis",["Histiocytosis, mucinous"],[100727]],[40139,"Lipogranulomatosis",[],[2955,4356]],[40140,"Degeneration of the striatum",[],[2180,10994]],[40141,"Tardive dyskinesia",[],[100660]],[40142,"Reduced circulating 5-oxoprolinase activity",["5-oxoprolinase deficiency","Reduced 5-oxoprolinase level"],[12379]],[40143,"Dystopic os odontoideum",[],[5667]],[40144,"L-2-hydroxyglutaric aciduria",[],[32278]],[40145,"Dicarboxylic acidemia",["Elevated dicarboxylic acid concentration","Elevated dicarboxylic acid level","Elevated dicarboxylic acid level in blood","Increased dicarboxylic acid concentration","Increased dicarboxylic acid level","Increased dicarboxylic acid level in blood"],[10995,32368]],[40146,"D-2-hydroxyglutaric acidemia",[],[40145]],[40147,"L-2-hydroxyglutaric acidemia",[],[40145]],[40148,"Cortical myoclonus",[],[1336]],[40149,"Woolly scalp hair",["Nappy scalp hair texture","Wooly scalp hair","Afro-textured scalp hair","Kinky scalp hair texture"],[2224]],[40150,"Epiblepharon of upper lid",[],[11225]],[40151,"Epiblepharon of lower lid",[],[11225]],[40154,"Acne inversa",["Hidradenitis suppurativa","Pyoderma fistulans significa","Smoker's boils","Verneuil's disease"],[1061]],[40155,"Elevated urinary 3-hydroxybutyric acid",[],[33303]],[40156,"Elevated urinary carboxylic acid",[],[1992,31980]],[40157,"Abnormal intermamillary distance",[],[4404]],[40158,"Short intermamillary distance",[],[40157]],[40159,"Abnormal spaced incisors",["Abnormality of spacing of front teeth","Abnormality of spacing of incisors"],[11062]],[40160,"Generalized osteoporosis",["Generalised osteoporosis","Generalised osteoporosis with pathologic fractures","Generalized osteoporosis with pathologic fractures"],[939]],[40161,"Localized osteoporosis",["Localised osteoporosis"],[939]],[40162,"Orthokeratosis",[],[11368]],[40163,"Abnormal pelvis bone morphology",["Abnormal shape of pelvis bone"],[2644]],[40164,"Lipomas of eyelids",["Fatty tumors on the eyelids","Fatty tumours on the eyelids"],[492,12032]],[40165,"Periostitis",["Periostalgia"],[30313]],[40167,"Facial papilloma",["Facial verruca","Facial wart"],[11799,12740]],[40169,"Loose anagen hair",[],[40170]],[40170,"Abnormality of hair growth",[],[1595]],[40171,"Decreased serum testosterone concentration",["Decreased testosterone","Decreased serum testosterone level","Decreased serum testosterone levels","Low serum testosterone level","Low serum testosterone levels"],[30087,30349]],[40172,"Abnormality of occipitofrontalis muscle",[],[3011]],[40173,"Abnormality of the tongue muscle",["Abnormality of lingual muscle"],[30809,40286]],[40174,"Abnormality of extrinsic muscle of tongue",["Abnormality of extrinsic lingual muscle"],[40173]],[40175,"Platelet-activating factor acetylhydrolase deficiency",[],[12379]],[40176,"Abnormal circulating phospholipid concentration",["Abnormal level of phospholipids"],[3119]],[40177,"Abnormal level of platelet-activating factor",["Abnormal level of PAF"],[40176]],[40178,"Increased level of platelet-activating factor",["Increased level of PAF"],[40177]],[40179,"Decreased level of platelet-activating factor",["Decreased level of PAF"],[40177]],[40181,"Chapped lip",["Chapped lips","Cheilitis simplex","Common cheilitis","Dry lips","Perioral dermatitis"],[159]],[40182,"Inappropriate sinus tachycardia",[],[11703]],[40183,"Encopresis",["Stool holding","Stool soiling"],[2607]],[40185,"Macrothrombocytopenia",["Macrothrombozytopenia"],[1873,11877]],[40186,"Maculopapular exanthema",[],[4000054]],[40187,"Neonatal sepsis",[],[100806]],[40188,"Osteochondrosis",[],[1367,100323]],[40189,"Scaling skin",["Desquamation","Scaly skin","flaking skin","peeling skin","Exfoliation"],[11124]],[40190,"White scaling skin",["White scaly skin"],[40189]],[40191,"Rectus femoris muscle atrophy",["Atrophy of the rectus femoris muscles"],[9050]],[40192,"APUdoma",["amine precursor uptake and decarboxylation tumors","amine precursor uptake and decarboxylation tumours"],[100568]],[40194,"Increased head circumference",[],[240]],[40195,"Decreased head circumference",[],[240]],[40196,"Mild microcephaly",[],[40195]],[40197,"Encephalomalacia",["Cerebral softening"],[2060]],[40198,"Non-medullary thyroid carcinoma",["Nonmedullary thyroid carcinoma","Thyroid cancer, nonmedullary"],[2890]],[40200,"Motor impersistence",["Negative chorea"],[11443]],[40201,"Simultanapraxia",[],[40200]],[40202,"Abnormal consumption behavior",["Abnormal consumption behaviour"],[5200241]],[40203,"Abnormal CSF neopterin concentration",["Abnormal CSF neopterin level"],[25454]],[40204,"Elevated CSF neopterin level",[],[40203]],[40205,"Decreased CSF neopterin level",[],[40203]],[40206,"Abnormal circulating neopterin concentration",[],[4364]],[40207,"Abnormal CSF pterin concentration",["Abnormal CSF biopterin level","Abnormal cerebrospinal fluid biopterin level"],[25454]],[40208,"Elevated CSF biopterin level",[],[40207]],[40209,"Decreased CSF biopterin level",["Decreased cerebrospinal fluid biopterin level"],[40207]],[40210,"Abnormal circulating biopterin concentration",[],[4364]],[40211,"Abnormal skin morphology of the palm",[],[11356,100871]],[40212,"Risus sardonicus",["Rictus grin"],[5324]],[40213,"Hypopnea",["Shallow breathing"],[2793]],[40214,"Abnormal circulating insulin concentration",["Abnormal insulin level"],[3117]],[40216,"Hypoinsulinemia",[],[40214]],[40217,"Elevated hemoglobin A1c",["Elevated HbA1c","Elevated glycated haemoglobin","Elevated glycated hemoglobin","Elevated glycosylated haemoglobin","Elevated glycosylated hemoglobin","Elevated haemoglobin A1c","Increased HbA1c levels"],[11902]],[40218,"Reduced total natural killer cell count",["Reduced NK cell number","Reduced natural killer cell number"],[40089]],[40219,"Absent natural killer cells",["Absent NK cells"],[40089]],[40220,"Abnormal size of the dental root",[],[6486]],[40221,"Hypoplasia of the dental root",[],[40220]],[40222,"Maternal thrombophilia",[],[2686]],[40223,"Pulmonary hemorrhage",["Intrapulmonary haemorrhage","Intrapulmonary hemorrhage","Pulmonary haemorrhage"],[2088,11029]],[40224,"Abnormality of fibrinolysis",["Abnormality of the fibrinolytic system"],[1928]],[40225,"Decrease in high molecular weight von Willebrand factor Multimers",["Decrease in HMW VWF multimers"],[30131]],[40226,"Decreased level of heparin co-factor II",["Heparin co-factor II deficiency"],[10990]],[40227,"Decreased level of histidine-rich glycoprotein",[],[10990]],[40228,"Decreased circulating plasminogen concentration",["Decreased plasminogen concentration","Decreased plasminogen level","Decreased plasminogen level in blood","Hypoplasminogenemia","Reduced plasminogen concentration","Reduced plasminogen level","Reduced plasminogen level in blood"],[10990,32312]],[40229,"Decreased level of thrombomodulin",["BDCA-3"],[10990]],[40230,"Decreased level of tissue plasminogen activator",["Decreased level of tPA"],[10990]],[40231,"Abnormal onset of bleeding",[],[1892]],[40232,"Delayed onset bleeding",[],[40231]],[40233,"Factor XIII subunit A deficiency",["Reduced factor XIII, subunit A"],[8357]],[40234,"Factor XIII subunit B deficiency",["Reduced factor XIII, subunit B"],[8357]],[40235,"Leukocyte inclusion bodies",["Dohle-like leukocyte inclusion bodies","Inclusion bodies in leukocytes"],[8264]],[40236,"Hyperfibrinolysis",[],[40224]],[40237,"Impaired binding of factor VIII to VWF",["von Willebrand Disease Type II Normandy"],[12146]],[40238,"Impaired neutrophil chemotaxis",["Neutrophil migratory defect"],[5400]],[40239,"Increased plasma vitamin K epoxide after vitamin K supplementation",[],[10990]],[40240,"Increased ratio of VWF propeptide to VWF antigen",[],[12146]],[40241,"Increased RIPA",[],[30402]],[40242,"Muscle hemorrhage",["Intramuscular haemorrhage","Intramuscular hemorrhage","Muscle haemorrhage"],[11029,11805]],[40243,"Prolonged euglobulin clot lysis time",[],[40224]],[40244,"Prolonged Russell's viper venom time",[],[10990]],[40245,"Reduced alpha-2-antiplasmin activity",[],[10990]],[40246,"Reduced antithrombin antigen",[],[10990]],[40247,"Reduced euglobulin clot lysis time",[],[40224]],[40248,"Reduced plasminogen activator inhibitor 1 activity",[],[430126]],[40249,"Reduced plasminogen activator inhibitor 1 antigen",[],[430126]],[40250,"Reduced prothrombin antigen",[],[12200]],[40251,"Hand dimple",["Hand dimples"],[10781]],[40252,"Abnormal size of the clitoris",[],[56]],[40253,"Increased size of the clitoris",[],[40252]],[40254,"Decreased size of the clitoris",[],[40252]],[40255,"Aplasia/Hypoplasia of the clitoris",[],[56]],[40256,"Aplastic/Hypoplastic nasopharyngeal adenoids",["Adenoids small or absent"],[3000033]],[40257,"Abnormal size of nasopharyngeal adenoids",[],[3000033]],[40258,"Hypoplastic nasopharyngeal adenoids",["Underdeveloped nasopharyngeal adenoids"],[40256,40260]],[40259,"Aplastic nasopharyngeal adenoids",[],[40256]],[40260,"Decreased size of nasopharyngeal adenoids",[],[40257]],[40261,"Increased size of nasopharyngeal adenoids",["Adenoid hypertrophy","Adenoids large"],[40257]],[40262,"Glue ear",[],[388]],[40264,"Jaw pain",[],[12531]],[40265,"Upper limb muscle hypertrophy",[],[1446,3712]],[40266,"Proximal upper limb muscle hypertrophy",[],[40265]],[40267,"Distal upper limb muscle hypertrophy",[],[40265]],[40269,"Blocked Eustachian tube",["Obstruction of Eustachian tube"],[40115]],[40270,"Impaired glucose tolerance",["Decreased glucose tolerance","Glucose tolerance decreased"],[1952]],[40272,"Hyperintensity of MRI T2 signal of the spinal cord",[],[2143]],[40273,"Adenocarcinoma of the intestines",[],[2672]],[40274,"Adenocarcinoma of the small intestine",[],[40273,100833]],[40275,"Adenocarcinoma of the large intestine",[],[40273,100834]],[40276,"Adenocarcinoma of the colon",[],[40275,100273]],[40277,"Neoplasm of the pituitary gland",[],[12503,100568]],[40279,"Frequency",[],[1]],[40280,"Obligate",["Obligate (100%)"],[40279]],[40281,"Very frequent",["Very frequent (99-80%)"],[40279]],[40282,"Frequent",["Frequent (79-30%)"],[40279]],[40283,"Occasional",["Occasional (29-5%)"],[40279]],[40284,"Very rare",["Very rare (&lt;4-1%)","Very rare (<4-1%)"],[40279]],[40285,"Excluded",["Excluded (0%)"],[40279]],[40286,"Abnormal axial muscle morphology",["Abnormality of axial muscles"],[11805]],[40287,"Axial muscle atrophy",[],[40286]],[40288,"Nasogastric tube feeding",[],[33454]],[40289,"Cyclically decreased total neutrophil count",["CyN","Cyclic neutropenia"],[1875]],[40292,"Left hemiplegia",["Hemiplegia (left)"],[2301]],[40293,"Right hemiplegia",["Hemiplegia (right)"],[2301]],[40294,"Duplicated tongue",["Duplication of tongue","Tongue duplicated","Tongue duplication"],[30809]],[40295,"Duplication of the upper lip",["Double upper lip"],[177]],[40296,"Abnormal location of the eyebrow",["Abnormal location of eyebrows","Abnormally placed eyebrows"],[534]],[40297,"Preauricular cyst",[],[383]],[40298,"Hyperplasia of the endometrium",["Hyperplastic endometrium"],[30126]],[40299,"Decreased circulating free fatty acid level",["Low fatty acids level"],[40300]],[40300,"Abnormal circulating free fatty acid concentration",["Abnormal circulating free fatty acid level"],[4359]],[40301,"Increased urinary glycerol",[],[31979]],[40302,"Hyperglycerolemia",["Elevated glycerol concentration","Elevated glycerol level","Elevated glycerol level in blood","Increased glycerol concentration","Increased glycerol level","Increased glycerol level in blood","Pseudohypertriglyceridemia"],[31795]],[40303,"Decreased circulating iron concentration",["Decreased iron cation concentration","Decreased iron cation level","Decreased iron cation level in blood","Decreased serum iron","Hypoferremia","Low serum iron","Reduced iron cation concentration","Reduced iron cation level","Reduced iron cation level in blood"],[40130]],[40304,"Duplication of the sella turcica",["Duplicate sella turcica","Duplicated sella turcica"],[2679]],[40305,"Increased male libido",[],[40307,46503]],[40306,"Decreased male libido",[],[40307,46504]],[40307,"Male sexual dysfunction",[],[12874]],[40308,"Male anorgasmia",[],[40307,46502]],[40309,"Increased size of the mandible",["Large jaw"],[277]],[40310,"Sterile arthritis",[],[1369]],[40311,"Symmetric polyarthritis",[],[1369]],[40312,"Temporomandibular arthritis",["Arthritis of temporomandibular joint"],[1369]],[40313,"Oligoarthritis",[],[1369]],[40314,"Blind vagina",["Blind-ended vagina"],[142]],[40315,"Tongue edema",["Tongue oedema"],[157,969]],[40317,"Blue urine",[],[12086]],[40318,"Red urine",[],[12086]],[40319,"Dark urine",[],[12086]],[40320,"Red-brown urine",["red brown urine"],[12086]],[40321,"Dark yellow urine",[],[12086]],[40322,"Purple urine",[],[12086]],[40323,"Eyelid erythema",["Erythema of eyelid","Erythema of the eyelids","Red eyelid"],[492,10783]],[40324,"Heliotrope rash",["Heliotrope erythema"],[988]],[40325,"Bull's eye rash",[],[988]],[40326,"Hypoplasia of the olfactory bulb",["Hypoplasia of olfactory bulb","Hypoplastic olfactory bulb"],[2977,40327]],[40327,"Abnormal morphology of the olfactory bulb",[],[100547]],[40328,"Focal hyperintensity of cerebral white matter on MRI",[],[7042,30890]],[40329,"Multifocal hyperintensity of cerebral white matter on MRI",[],[7052,30890]],[40330,"Confluent hyperintensity of cerebral white matter on MRI",[],[7204,30890]],[40331,"Focal hypointensity of cerebral white matter on MRI",[],[7042,7103]],[40332,"Multifocal hypointensity of cerebral white matter on MRI",[],[7052,7103]],[40333,"Confluent hypointensity of cerebral white matter on MRI",[],[7103,7204]],[40334,"Purulent rhinitis",[],[2257]],[40402,"Nipple localization",[],[12838]],[40403,"Breast microcalcification",["Microcalcifications of the breast"],[31093]],[40404,"Architectural distortion of breast",[],[31093]],[40405,"Asymmetric thickening of the nipple-areolar complex",[],[31093]],[40406,"Perimenopausal",[],[32443]],[40407,"Mastitis",[],[31093]],[40408,"Ameliorated by menopause",[],[25254]],[40409,"Fluctuance on palpation",[],[12823]],[40410,"History of vasectomy",[],[430103]],[40411,"Pain in penis",["Penile pain"],[12531]],[40412,"Left ventricular thrombus",[],[1711,1977]],[40413,"Atrophic vaginal mucosa",[],[142]],[40414,"Gelatinous ascites",[],[1541]],[40415,"Diffuse breast nodularity",[],[31093]],[40416,"Abnormal urinary nitrogen compound level",[],[33354]],[40417,"Decreased urinary biopterin level",[],[40416]],[40418,"Abnormal urine guanidinoacetic acid level",[],[33097]],[40419,"Elevated urine guanidinoacetic acid level",[],[40418]],[40420,"Decreased urinary neopterin level",[],[40416]],[40421,"Abnormal urinary inosine level",[],[33161]],[40422,"Elevated urinary inosine level",[],[40421]],[40423,"Abnormal urinary guanosine level",[],[33161]],[40424,"Elevated urinary guanosine level",[],[40423]],[40425,"Abnormal urinary hypoxanthine level",[],[33161]],[40426,"Decreased urinary hypoxanthine level",[],[40425]],[41042,"Absent neutrophil lactoferrin",[],[12551]],[41043,"Neutrophil nuclear clefts",[],[410310]],[41044,"Low neutrophil alkaline phosphatase",[],[3282]],[41045,"Increased neutrophil mitochondria",[],[11992]],[41046,"Increased neutrophil ribosomes",[],[11992]],[41047,"Bladder outlet obstruction",["Obstruction of bladder outlet"],[9]],[41048,"Decreased expression of GPI-anchored proteins on the cell surface",[],[31551]],[41049,"Starch intolerance",["Amylose-amylopectin intolerance"],[2024]],[41050,"Renal tubular cyst",["Renal tubule cyst"],[91,107]],[41051,"Ageusia",["Absent sense of taste","Impaired taste sensation","Lost taste"],[223]],[41052,"Agenesis of putamen",[],[31982]],[41055,"Fractured humerus",["Broken humerus","Fracture of the humerus","Humeral fracture","Humerus fracture","bone humerus"],[25736,31095,41245]],[41056,"Hot cross bun sign",[],[7361]],[41057,"Transient decreased circulating IgG4 concentration",["Transient decreased IgG4 in blood"],[32138]],[41058,"Chronic decreased circulating IgG4 concentration",["Chronic decreased IgG4 in blood"],[32138]],[41059,"Chronic absent circulating IgG4",["Chronic (near) absent IgG4 in blood"],[32138]],[41061,"Fractured calcaneus",["bone calcaneus"],[8364,41247]],[41062,"Transient decreased circulating IgG2 concentration",["Transient decreased IgG2 in blood"],[8348]],[41063,"Chronic decreased circulating IgG2 concentration",["Chronic decreased IgG2 in blood"],[8348]],[41065,"Chronic absent circulating IgG2",["Chronic (near) absent IgG2 in blood"],[8348]],[41067,"Transient decreased circulating IgG1 concentration",["Transient decreased IgG1 in blood"],[32136]],[41068,"Chronic decreased circulating IgG1 concentration",["Chronic decreased IgG1 in blood"],[32136]],[41069,"Chronic absent circulating IgG1",["Chronic (near) absent IgG1 in blood"],[32136]],[41071,"Transient decreased circulating IgG3 concentration",["Transient decreased IgG3 in blood"],[32137]],[41072,"Chronic decreased circulating IgG3 concentration",["Chronic decreased IgG3 in blood"],[32137]],[41073,"Fractured thoracic vertebra",["bone thoracic vertebra"],[41166,100711]],[41074,"Chronic absent circulating IgG3",["Chronic (near) absent IgG3 in blood"],[32137]],[41076,"Abnormal immunoglobulin level in body fluid",[],[5372]],[41077,"Increased immunoglobulin level in body fluid",[],[41076]],[41078,"Decreased immunoglobulin level in body fluid",[],[41076]],[41079,"Decreased body fat percentage",["Decreased adipose tissue percentage"],[1507]],[41080,"Abnormal exhausted T cell proportion",[],[25540]],[41081,"Fractured lower leg",["Fracture of the lower leg","Lower extremity fracture","Lower limb fracture"],[41235]],[41082,"Fractured skull",[],[929]],[41083,"Fractured phalanx",["bone phalanx"],[11297,25736]],[41084,"Compression-fractured thoracic vertebra",["Compression fractured thoracic vertebra","Wedge fractured thoracic vertebra"],[41073]],[41085,"Compression-fractured vertebra",["Compression fractured vertebra","Wedge fractured vertebra"],[41166]],[41086,"Compression-fractured cervical vertebra",["Compression fractured cervical vertebra","Wedge fractured cervical vertebra"],[41167]],[41087,"Compression-fractured lumbar vertebra",["Compression fractured lumbar vertebra","Wedge fractured lumbar vertebra"],[41168]],[41088,"Avulsion fractured humerus",[],[41055]],[41089,"Avulsion fractured tibia",[],[41143]],[41090,"Pelvic avulsion fracture",["Avulsion fractured pelvic region of trunk"],[41161,4000052]],[41091,"Avulsion fractured epiphysis of femur",[],[41189]],[41092,"Emotional hypersensitivity",["Emotional reactivity","Highly sensitive","Hypersensitivity","Overly sensitive"],[20007,31466]],[41093,"Beau's lines",["Beau lines","Ladder nail","Ladder nail sign"],[25757]],[41094,"Complete tracheal ring",["CTRD","Complete tracheal ring deformity","Complete tracheal rings"],[4468]],[41095,"Decreased middle cerebral artery pulsatility index",[],[34190]],[41114,"Fractured metaphysis of femur",["bone metaphysis of femur"],[6489,25736]],[41115,"Fractured right clavicle",["bone right clavicle"],[41144]],[41116,"Fractured left clavicle",["bone left clavicle"],[41144]],[41117,"Fractured lower limb segment",["bone lower limb segment"],[40064]],[41118,"Fractured upper limb segment",["bone upper limb segment"],[40064]],[41119,"Fractured metacarpus skeleton",["bone metacarpus skeleton"],[4277]],[41121,"Fractured epiphysis of fifth metacarpal bone",["bone epiphysis of fifth metacarpal bone"],[9189,10226,41147]],[41143,"Fractured tibia",["Broken tibia","Fracture of the tibia","Tibial fracture","bone tibia"],[2992,25736,41235]],[41144,"Fractured clavicle bone",["bone clavicle bone"],[889,25736]],[41145,"Fractured acetabular part of hip bone",["bone acetabular part of hip bone"],[3170,20110]],[41146,"Fractured coccyx",["bone coccyx"],[8519,20110]],[41147,"Fractured epiphysis",["bone epiphysis"],[25736,100168]],[41149,"Fractured navicular bone of pes",["bone navicular bone of pes"],[41247,100339]],[41150,"Fractured cuboid bone",["bone cuboid bone"],[41226]],[41152,"Fractured sternoclavicular joint",["bone sternoclavicular joint"],[9810]],[41153,"Fractured ankle",["Ankle fracture"],[20110,34673]],[41155,"Fractured mandible",["bone mandible"],[277,41234]],[41156,"Fractured orbit of skull",["bone orbit of skull"],[3000030]],[41157,"Fractured larynx",["bone larynx"],[25423]],[41159,"Fractured rib",["bone rib"],[772,25736]],[41161,"Pelvis fracture",["Fractured pelvic region of trunk","Pelvic fracture"],[40163]],[41162,"Metatarsal fracture",["Broken metatarsal","Broken metatarsal bone"],[1832,20110,41117]],[41163,"Fractured manual digit",["bone manual digit"],[1167,5922]],[41164,"Fractured talus",["bone talus"],[8365,41247]],[41165,"Fractured maxilla",["bone maxilla"],[326,41234]],[41166,"Fractured vertebra",["bone vertebra"],[3468,20110]],[41167,"Fractured cervical vertebra",["bone cervical vertebra"],[41166,46508]],[41168,"Fractured lumbar vertebra",["bone lumbar vertebra"],[41166,100712]],[41172,"Fractured fused sacrum",["bone fused sacrum"],[5107,20110]],[41173,"Fractured metacarpophalangeal joint",["bone metacarpophalangeal joint"],[9810,11911]],[41174,"Fractured distal finger phalanx",["Fractured distal phalanx of manus","bone distal phalanx of manus"],[9832,41218,41241]],[41175,"Fractured middle phalanx of pes",["bone middle phalanx of pes"],[10183,41240]],[41176,"Fractured distal phalanx of manual digit 2",["bone distal phalanx of manual digit 2"],[9542,41174]],[41177,"Fractured distal phalanx of manual digit 3",["bone distal phalanx of manual digit 3"],[9357,41174]],[41178,"Fractured distal phalanx of manual digit 4",["bone distal phalanx of manual digit 4"],[9282,41174]],[41179,"Fractured distal phalanx of manual digit 5",["bone distal phalanx of manual digit 5"],[4225,41174]],[41180,"Fractured distal phalanx of pedal digit 1",["bone distal phalanx of pedal digit 1"],[10053,41218,41240]],[41181,"Fractured distal phalanx of pedal digit 3",["bone distal phalanx of pedal digit 3"],[10368,41218,41240]],[41182,"Fractured middle phalanx of manual digit 2",["bone middle phalanx of manual digit 2"],[9543,41236]],[41183,"Fractured middle phalanx of manual digit 3",["bone middle phalanx of manual digit 3"],[4172,41236]],[41184,"Fractured middle phalanx of manual digit 4",["bone middle phalanx of manual digit 4"],[9283,41236]],[41185,"Fractured middle phalanx of manual digit 5",["bone middle phalanx of manual digit 5"],[4219,41236]],[41186,"Fractured middle phalanx of pedal digit 3",["bone middle phalanx of pedal digit 3"],[10369,41175]],[41187,"Fractured proximal phalanx of pedal digit 1",["bone proximal phalanx of pedal digit 1"],[10052,41240]],[41188,"Fractured proximal phalanx of manual digit 1",["bone proximal phalanx of manual digit 1"],[41239,41243]],[41189,"Fractured epiphysis of femur",["bone epiphysis of femur"],[6499,41147]],[41190,"Fractured epiphysis of second metacarpal bone",["bone epiphysis of second metacarpal bone"],[9189,10220,41147]],[41191,"Fractured epiphysis of third metacarpal bone",["bone epiphysis of third metacarpal bone"],[9189,10222,41147]],[41192,"Fractured epiphysis of fourth metacarpal bone",["bone epiphysis of fourth metacarpal bone"],[9189,10224,41147]],[41193,"Fractured epiphysis of first metatarsal bone",["bone epiphysis of first metatarsal bone"],[10153,41147]],[41194,"Fractured epiphysis of second metatarsal bone",["bone epiphysis of second metatarsal bone"],[10630,40034,41147]],[41195,"Fractured epiphysis of third metatarsal bone",["bone epiphysis of third metatarsal bone"],[10630,10672,41147]],[41196,"Fractured distal epiphysis of radius",["bone distal epiphysis of radius"],[10597,41147]],[41197,"Fractured proximal epiphysis of first metacarpal bone",["bone proximal epiphysis of first metacarpal bone"],[10019,41147]],[41198,"Fractured proximal epiphysis of middle phalanx of manual digit 3",["bone proximal epiphysis of middle phalanx of manual digit 3"],[9325,41209]],[41199,"Fractured interphalangeal joint",["bone interphalangeal joint"],[11297]],[41200,"Fractured sternal end of clavicle",["bone sternal end of clavicle"],[889,25736,40070]],[41209,"Fractured epiphysis of middle phalanx of manus",["bone epiphysis of middle phalanx of manus"],[10261,41147]],[41210,"Fractured lateral malleolus of fibula",["bone lateral malleolus of fibula"],[10595,25736,40069]],[41211,"Fractured proximal phalanx of digit 2",["bone proximal phalanx of digit 2"],[41083]],[41212,"Fractured proximal phalanx of digit 3",["bone proximal phalanx of digit 3"],[41083]],[41213,"Fractured proximal phalanx of digit 4",["bone proximal phalanx of digit 4"],[41083]],[41214,"Fractured proximal phalanx of digit 5",["bone proximal phalanx of digit 5"],[41083]],[41215,"Fractured fused metatarsal bones 2-4",["bone fused metatarsal bones 2-4"],[1832,25736,41235]],[41216,"Fractured distal epiphysis of distal phalanx of manual digit 1",["bone distal epiphysis of distal phalanx of manual digit 1"],[9679,41147]],[41217,"Fractured shoulder",["bone shoulder joint"],[3043,9810,20110]],[41218,"Fractured distal phalanx",["bone distal phalanx"],[41083]],[41219,"Elbow fracture",["Fractured elbow","bone elbow"],[20300,41118]],[41220,"Fractured facial bone",["bone facial bone"],[11821,20110]],[41221,"Fractured head of femur",["bone head of femur"],[3368,25736]],[41222,"Fractured fibula",["Broken fibula","Fibula fracture","Fracture of the fibula","bone fibula"],[2991,25736,41235]],[41223,"Fractured metatarsal bone of digit 5",["bone metatarsal bone of digit 5"],[8089,25736,41235]],[41224,"Fractured manual digit bone",["bone manual digit bone"],[4277,11297,40070]],[41225,"Fractured 1st metacarpal",["Fracture of the first metacarpal bone","Fractured metacarpal bone of digit 1","bone metacarpal bone of digit 1"],[4277,10009,25736]],[41226,"Fractured distal tarsal bone",["bone distal tarsal bone"],[41247]],[41227,"Fractured distal tarsal bone 2",["bone distal tarsal bone 2"],[41226]],[41228,"Fractured distal tarsal bone 3",["bone distal tarsal bone 3"],[41226]],[41230,"Fractured metatarsal bone of digit 4",["bone metatarsal bone of digit 4"],[25736,40035,41235]],[41231,"Fractured metatarsal bone of digit 1",["bone metatarsal bone of digit 1"],[10054,25736,41235]],[41233,"Fractured ilium",["bone ilium"],[2867,20110,40163]],[41234,"Fractured bone of jaw",["bone bone of jaw"],[31816,41220]],[41235,"Fractured hindlimb bone",["bone hindlimb bone"],[20110,40069]],[41236,"Fractured middle phalanx of finger",["Fractured middle phalanx of manus","bone middle phalanx of manus"],[9833,41241]],[41237,"Fractured patella",["bone patella"],[3045,41235]],[41239,"Fractured thumb phalanx",["Fractured manual digit 1 phalanx","bone manual digit 1 phalanx"],[1172,41241]],[41240,"Toe phalanx fracture",["Fractured phalanx of pes","bone phalanx of pes"],[10161,41083,41235]],[41241,"Fractured finger phalanx",["Fractured phalanx of manus","bone phalanx of manus"],[5918,41083,41224]],[41243,"Fractured proximal phalanx of finger",["Fractured proximal phalanx of manus","bone proximal phalanx of manus"],[9834,41241]],[41244,"Fractured scapula",["bone scapula"],[782,20110]],[41245,"Fractured shoulder bone",["bone shoulder bone"],[20110,40070]],[41246,"Fractured sternum",["bone sternum"],[766]],[41247,"Fractured tarsal bone",["bone tarsal bone"],[1850,41235]],[41248,"Fractured carpal bone",["Broken wrist","Carpal bone fracture","Fractured wrist","Wrist fracture","bone carpal bone"],[1191,4277]],[41249,"Fractured nose",["bone nose"],[5105]],[45001,"Abnormal ossification of the trapezium",[],[4252,6257]],[45002,"Absent ossification of the trapezium",[],[45001]],[45003,"Abnormal ossification of the scaphoid",[],[4243]],[45004,"Abnormal ossification of the trapezoid bone",[],[4256,6257]],[45005,"Neural tube defect",["Abnormality of neural tube closure","NTD"],[410043]],[45006,"Aplasia of lymphatic vessels",["Absent lymphatic vessels"],[100766]],[45007,"Abnormal substantia nigra morphology",["Abnormality of the substantia nigra"],[2134,2418]],[45008,"Abnormal shape of the radius",[],[2818]],[45010,"Abnormal peripheral nerve morphology by anatomical site",[],[759]],[45011,"Decreased urine bicarbonate concentration",["Decreased urine HCO3 concentration"],[11279]],[45012,"Decreased urinary catecholamine concentration",[],[11281]],[45014,"Hypolipidemia",["Decreased lipid concentration","Decreased lipid level","Decreased lipid level in blood","Reduced lipid concentration","Reduced lipid level","Reduced lipid level in blood"],[3119]],[45017,"Congenital malformation of the left heart",[],[1627]],[45018,"Partial duplication of eyebrows",["Partial double eyebrow"],[10730]],[45025,"Narrow palpebral fissure",["Narrow palpebral fissures","Small opening between the eyelids","Small palpebral fissures","Decreased size of palpebral fissure","Narrow eyelid opening"],[200007]],[45026,"Abnormal mediastinum morphology",["Abnormality of the mediastinum"],[45027]],[45027,"Abnormality of the thoracic cavity",[],[118]],[45028,"Microlissencephaly",["Lissencephaly type III","Type 3 lissencephaly","Type III lissencephaly"],[1339]],[45029,"Eosinophilic fasciitis",[],[100537]],[45034,"Elevated urinary 3-aminoisobutyric acid",[],[33098]],[45035,"Decreased urinary copper concentration",[],[45036]],[45036,"Abnormal urinary copper concentration",[],[25640]],[45037,"Abnormality of jaw muscles",[],[301]],[45038,"Gastric lymphoma",["Primary gastric lymphoma"],[2665,6753]],[45039,"Osteolysis involving bones of the upper limbs",[],[2797,40070]],[45040,"Abnormal circulating lactate dehydrogenase concentration",["Abnormal LDH level","Abnormal circulating LDH concentration","Abnormal lactate dehydrogenase level","AbnormalLDH level"],[12379]],[45041,"Reduced circulating lactate dehydrogenase concentration",[],[45040]],[45042,"Decreased circulating complement C4 concentration",["Decreased serum complement C4","Decreased serum complement C4 level"],[4431]],[45043,"Decreased circulating complement C4a concentration",["C4a deficiency","Complement component 4A deficiency","Decreased serum complement C4a"],[45042]],[45044,"Decreased circulating complement C4b concentration",["C4b deficiency","Complement component 4B deficiency"],[45042]],[45045,"Elevated circulating fatty acylcarnitine concentration",["Elevated fatty acylcarnitine concentration","Elevated fatty acylcarnitine level","Elevated fatty acylcarnitine level in blood","Elevated plasma acylcarnitine levels","Increased fatty acylcarnitine concentration","Increased fatty acylcarnitine level","Increased fatty acylcarnitine level in blood"],[12071]],[45046,"Decreased circulating insulin-like growth factor-binding protein acid labile subunit concentration",["Acid-labile subunit deficiency","Decreased insulin-like growth factor-binding protein complex acid labile subunit concentration","Decreased insulin-like growth factor-binding protein complex acid labile subunit level","Decreased insulin-like growth factor-binding protein complex acid labile subunit level in blood","Decreased levels of acid labile subunit","Reduced insulin like growth factor binding protein acid labile subunit level","Reduced insulin-like growth factor-binding protein complex acid labile subunit concentration","Reduced insulin-like growth factor-binding protein complex acid labile subunit level","Reduced insulin-like growth factor-binding protein complex acid labile subunit level in blood"],[31034]],[45047,"HbS hemoglobin",["HbS haemoglobin"],[11902]],[45048,"Increased HbA2 hemoglobin",["Increased HbA2 haemoglobin","Increased haemoglobin A2","Increased hemoglobin A2"],[11902]],[45049,"Abnormal DLCO",["Abnormal TLCO","Abnormal diffusing capacity","Abnormal transfer factor of the lung for carbon monoxide"],[30878]],[45050,"Increased DLCO",["Increased diffusing capacity"],[45049]],[45051,"Decreased DLCO",["Decreased diffusing capacity"],[45049]],[45052,"Abnormality of the brachial nerve plexus",[],[410010]],[45053,"Abnormality of the lumbosacral nerve plexus",[],[410010]],[45054,"Brachial plexus neuropathy",[],[45052]],[45055,"Tiger tail banding",["Tiger-tail banding"],[3328]],[45056,"Abnormal circulating alpha-fetoprotein concentration",["Abnormal alpha-fetoprotein level"],[10876]],[45057,"Decreased circulating alpha-fetoprotein concentration",["Decreased alpha-fetoprotein concentration","Decreased alpha-fetoprotein level","Decreased alpha-fetoprotein level in blood","Reduced alpha-fetoprotein concentration","Reduced alpha-fetoprotein level","Reduced alpha-fetoprotein level in blood"],[45056]],[45058,"Abnormality of the testis size",[],[35]],[45059,"Hyperkeratotic papule",[],[962,200034]],[45060,"Aplasia/hypoplasia involving bones of the extremities",[],[2813,9815]],[45061,"Decreased carnitine level in liver",[],[34644]],[45063,"Increased PIVKA-II",["Increased prothrombin induced by vitamin K absence-II"],[12200]],[45073,"Serositis",[],[12649]],[45074,"Thin eyebrow",["Thin eyebrows"],[100840]],[45075,"Sparse eyebrow",["Hypotrichosis of eyebrow","Sparse eyebrows"],[100840]],[45079,"Distal femoral metaphyseal irregularity",["Irregular distal femoral metaphyses"],[30291]],[45081,"Abnormality of body mass index",["Abnormal BMI","Abnormal body mass index"],[4323]],[45082,"Decreased body mass index",["Decreased BMI"],[4325,45081]],[45084,"Limb myoclonus",["Myoclonus of limbs"],[1336]],[45085,"Atrophy of masseter muscle",["Atrophied masseter muscle","Masseter muscle atrophy"],[3000005]],[45086,"Knee joint hypermobility",["Knee joint over-flexibility"],[10500,430047]],[45087,"Hip joint hypermobility",[],[1384,430047]],[45088,"Clinical relevance",[],[12823]],[45089,"Distinctive finding",[],[45088]],[45090,"Minor finding",[],[45088]],[46502,"Anorgasmia",[],[80]],[46503,"Increased libido",[],[31845]],[46504,"Decreased libido",[],[31845]],[46505,"Hand pain",[],[12513]],[46506,"Pain in head and neck region",[],[12531]],[46507,"Bradypnea",[],[2793]],[46508,"Abnormal cervical spine morphology",[],[3319]],[100000,"Early onset of sexual maturation",[],[8373]],[100001,"Malignant mesothelioma",[],[11793]],[100002,"Pleural mesothelioma",[],[100001,100527]],[100003,"Peritoneal mesothelioma",[],[2585,100001,100016]],[100004,"Pericardial mesothelioma",[],[1697,100001]],[100005,"Testicular mesothelioma",[],[10788,100001]],[100006,"Neoplasm of the central nervous system",["Neoplasm of the CNS","Tumors of the central nervous system","Tumours of the central nervous system","Neoplasia of the central nervous system"],[2011,4375]],[100007,"Neoplasm of the peripheral nervous system",["Tumor of the peripheral nervous system","Tumour of the peripheral nervous system"],[759,4375]],[100008,"Schwannoma",["Neurilemmoma","Neurinoma","Neurolemmoma","Schwann cell tumor","Schwann cell tumour","Schwannomas"],[100007]],[100009,"Intracranial meningioma",[],[2858]],[100010,"Spinal meningioma",[],[2858]],[100011,"Scleral schwannoma",[],[591,100008,100012]],[100012,"Neoplasm of the eye",["Eye tumor","Eye tumour","Neoplasia of the eye"],[11793,12372]],[100013,"Neoplasm of the breast",["Breast tumor","Breast tumour","Tumours of the breast","Neoplasia of the breast"],[11793,31093]],[100014,"Epiretinal membrane",["Cellophane maculopathy","Macular pucker","Premacular fibrosis","Surface wrinkling retinopathy","Epiretinal membranes"],[30498]],[100015,"Stahl ear",["Additional crus","Third crus"],[11235]],[100016,"Abnormal mesentery morphology",["Abnormality of mesentery morphology","Abnormality of the mesentery"],[2012]],[100017,"Capsular cataract",[],[518]],[100018,"Nuclear cataract",["Yellowish cloudy center of lens","Yellowish cloudy centre of lens"],[10920]],[100019,"Cortical cataract",[],[10920]],[100020,"Posterior capsular cataract",[],[100017]],[100021,"Cerebral palsy",["CP","Cerebral paralysis"],[11442,100022]],[100022,"Abnormality of movement",["Movement disorder","Unusual movement"],[12638]],[100023,"Recurrent hand flapping",[],[5200018]],[100024,"Conspicuously happy disposition",["Conspicious happy aspect","Happy aspect"],[40082]],[100025,"Overfriendliness",["Excessive eagerness to interact with others","Excessive friendliness","Excessive gregariousness","Hypersociability","Overfamiliarity"],[5200029]],[100026,"Arteriovenous malformation",[],[33353]],[100027,"Recurrent pancreatitis",["Recurring pancreas inflammation","Recurring pancreatitis"],[1733]],[100028,"Ectopic thyroid",["Aberrant thyroid","Aberrant thyroid gland","Abnormal thyroid location","Ectopic thyroid gland","Heteropic thyroid gland"],[8188]],[100029,"Lingual thyroid",[],[100028]],[100030,"Accessory ectopic thyroid tissue",[],[100028]],[100031,"Neoplasm of the thyroid gland",["Neoplasia of the thyroid gland"],[11772,100568]],[100033,"Tics",["Tic disorder"],[722]],[100034,"Motor tics",[],[100033]],[100035,"Phonic tics",["Verbal tics","Vocal tics"],[100033,4000074]],[100036,"Pseudo-fractures",["Looser zones"],[3103]],[100037,"Abnormality of the scalp hair",[],[1595,1965]],[100038,"Slow-growing scalp hair",[],[2217,100037]],[100039,"Thickened cortex of bones",[],[3103]],[100040,"Broad 2nd toe",["Wide 2nd toe"],[1837,10319]],[100041,"Broad 3rd toe",["Wide 3rd toe"],[1837,10320]],[100042,"Broad 4th toe",["Wide 4th toe"],[1837,10321]],[100043,"Broad 5th toe",["Broad little toe","Broad pinkie toe","Broad pinky toe"],[1837,10322]],[100044,"Absent epiphyses of the 2nd toe",["Absent end part of the 2nd toe bone"],[10162,10323]],[100045,"Bracket epiphyses of the 2nd toe",["Bracket shaped end part of 2nd toe bone"],[10163,10323]],[100046,"Cone-shaped epiphyses of the 2nd toe",["Cone-shaped end part of the 2nd toe bone"],[10164,10323]],[100047,"Enlarged epiphyses of the 2nd toe",["Enlarged end part of the 2nd toe bone"],[10165,10323]],[100048,"Fragmentation of the epiphyses of the 2nd toe",["Fragmentation of the end part of the 2nd toe bone"],[10166,10323]],[100049,"Irregular epiphyses of the 2nd toe",["Irregular end part of the 2nd toe bone"],[10167,10323]],[100050,"Ivory epiphyses of the 2nd toe",["Increased bone density of end part of the 2nd toe"],[10168,10323]],[100051,"Pseudoepiphyses of the 2nd toe",[],[10169,10323]],[100052,"Small epiphyses of the 2nd toe",["Small end part of the 2nd toe bone"],[10170,10323]],[100053,"Stippling of the epiphyses of the 2nd toe",["Speckled calcifications in the end part of the 2nd toe bone"],[10171,10323]],[100054,"Triangular epiphyses of the 2nd toe",["Triangular end part of the 2nd toe bone"],[10172,10323]],[100055,"Absent epiphyses of the 3rd toe",["Absent end part of the 3rd toe"],[10162,10329]],[100056,"Bracket epiphyses of the 3rd toe",["Bracket shaped end part of 3rd toe bone"],[10163,10329]],[100057,"Cone-shaped epiphyses of the 3rd toe",["Cone-shaped end part of the 3rd toe bone"],[10164,10329]],[100058,"Enlarged epiphyses of the 3rd toe",["Enlarged end part of the 3rd toe bone"],[10165,10329]],[100059,"Fragmentation of the epiphyses of the 3rd toe",["Fragmentation of the end part of the 3rd toe bone"],[10166,10329]],[100060,"Irregular epiphyses of the 3rd toe",["Irregular end part of the 3rd toe bone"],[10167,10329]],[100061,"Ivory epiphyses of the 3rd toe",["Increased bone density of end part of the 3rd toe bone"],[10168,10329]],[100062,"Pseudoepiphyses of the 3rd toe",[],[10169,10329]],[100063,"Small epiphyses of the 3rd toe",["Small end part of the 3rd toe bone"],[10170,10329]],[100064,"Stippling of the epiphyses of the 3rd toe",["Speckled calcifications in the end part of the 3rd toe bone"],[10171,10329]],[100065,"Triangular epiphyses of the 3rd toe",["Triangular end part of the 3rd toe bone"],[10172,10329]],[100066,"Absent epiphyses of the 4th toe",["Absent end part of the 4th toe bone"],[10162,10335]],[100067,"Bracket epiphyses of the 4th toe",["Bracket shaped end part of 4th toe bone"],[10163,10335]],[100068,"Cone-shaped epiphyses of the 4th toe",["Cone-shaped end part of the 4th toe bone"],[10164,10335]],[100069,"Enlarged epiphyses of the 4th toe",["Enlarged end part of the 4th toe bone"],[10165,10335]],[100070,"Fragmentation of the epiphyses of the 4th toe",["Fragmentation of the end part of the 4th toe bone"],[10166,10335]],[100071,"Irregular epiphyses of the 4th toe",["Irregular end part of the 4th toe bone"],[10167,10335]],[100072,"Ivory epiphyses of the 4th toe",["Increased bone density of end part of the 4th toe bone"],[10168,10335]],[100073,"Pseudoepiphyses of the 4th toe",[],[10169,10335]],[100074,"Small epiphyses of the 4th toe",["Small end part of the 4th toe bone"],[10170,10335]],[100075,"Stippling of the epiphyses of the 4th toe",["Speckled calcifications in the end part of the 4th toe bone"],[10171,10335]],[100076,"Triangular epiphyses of the 4th toe",["Triangular end part of the 4th toe bone"],[10172,10335]],[100077,"Absent epiphyses of the 5th toe",["Absent end part of the little toe bone","Absent end part of the pinkie toe bone","Absent end part of the pinky toe bone"],[10162,10341]],[100078,"Bracket epiphyses of the 5th toe",["Bracket shaped end part of little toe bone","Bracket shaped end part of pinkie toe bone","Bracket shaped end part of pinky toe bone"],[10163,10341]],[100079,"Cone-shaped epiphyses of the 5th toe",["Cone-shaped end part of the little toe bone","Cone-shaped end part of the pinkie toe bone","Cone-shaped end part of the pinky toe bone"],[10164,10341]],[100080,"Enlarged epiphyses of the 5th toe",["Enlarged end part of the little toe bone","Enlarged end part of the pinkie toe bone","Enlarged end part of the pinky toe bone"],[10165,10341]],[100081,"Fragmentation of the epiphyses of the 5th toe",["Fragmentation of the end part of the little toe bone","Fragmentation of the end part of the pinkie toe bone","Fragmentation of the end part of the pinky toe bone"],[10166,10341]],[100082,"Irregular epiphyses of the 5th toe",["Irregular end part of the little toe bone","Irregular end part of the pinkie toe bone","Irregular end part of the pinky toe bone"],[10167,10341]],[100083,"Ivory epiphyses of the 5th toe",["Increased bone density of end part of the little toe bone","Increased bone density of end part of the pinkie toe bone","Increased bone density of end part of the pinky toe bone"],[10168,10341]],[100084,"Pseudoepiphyses of the 5th toe",[],[10169,10341]],[100085,"Small epiphyses of the 5th toe",["Small end part of the little toe bone","Small end part of the pinkie toe bone","Small end part of the pinky toe bone"],[10170,10341]],[100086,"Stippling of the epiphyses of the 5th toe",["Speckled calcifications in the end part of the little toe bone","Speckled calcifications in the end part of the pinkie toe bone","Speckled calcifications in the end part of the pinky toe bone"],[10171,10341]],[100087,"Triangular epiphyses of the 5th toe",["Triangular end part of the little toe bone","Triangular end part of the pinkie toe bone","Triangular end part of the pinky toe bone"],[10172,10341]],[100088,"Abnormality of the epiphysis of the distal phalanx of the 2nd toe",["Abnormality of the end part of the outermost bone of the 2nd toe"],[10323]],[100089,"Abnormality of the epiphysis of the middle phalanx of the 2nd toe",["Abnormality of the end part of the middle bone of the 2nd toe"],[10323]],[100090,"Abnormality of the epiphysis of the proximal phalanx of the 2nd toe",["Abnormality of the end part of the innermost bone of the 2nd toe"],[10323]],[100091,"Abnormality of the epiphysis of the distal phalanx of the 3rd toe",["Abnormality of the end part of the outermost bone of the 3rd toe"],[10329]],[100092,"Abnormality of the epiphysis of the middle phalanx of the 3rd toe",["Abnormality of the end part of the middle bone of the 3rd toe"],[10329]],[100093,"Abnormality of the epiphysis of the proximal phalanx of the 3rd toe",["Abnormality of the end part of the innermost bone of the 3rd toe"],[10329]],[100094,"Abnormality of the epiphysis of the distal phalanx of the 4th toe",["Abnormality of the end part of the outermost bone of the 4th toe"],[10335]],[100095,"Abnormality of the epiphysis of the middle phalanx of the 4th toe",["Abnormality of the end part of the middle bone of the 4th toe"],[10335]],[100096,"Abnormality of the epiphysis of the proximal phalanx of the 4th toe",["Abnormality of the end part of the innermost bone of the 4th toe"],[10335]],[100097,"Abnormality of the epiphysis of the distal phalanx of the 5th toe",["Abnormality of the end part of the outermost bone of the little toe","Abnormality of the end part of the outermost bone of the pinkie toe","Abnormality of the end part of the outermost bone of the pinky toe"],[10341]],[100098,"Abnormality of the epiphysis of the middle phalanx of the 5th toe",["Abnormality of the end part of the middle bone of the little toe","Abnormality of the end part of the middle bone of the pinkie toe","Abnormality of the end part of the middle bone of the pinky toe"],[10341]],[100099,"Abnormality of the epiphysis of the proximal phalanx of the 5th toe",["Abnormality of the end part of the innermost bone of the little toe","Abnormality of the end part of the innermost bone of the pinkie toe","Abnormality of the end part of the innermost bone of the pinky toe"],[10341]],[100100,"Absent epiphysis of the distal phalanx of the 2nd toe",["Absent end part of the outermost bone of the 2nd toe"],[100044,100088]],[100101,"Bracket epiphysis of the distal phalanx of the 2nd toe",["Bracket shaped end part of the outermost bone of the 2nd toe"],[100045,100088]],[100102,"Cone-shaped epiphysis of the distal phalanx of the 2nd toe",["Cone-shaped end part of the outermost bone of the 2nd toe"],[100046,100088]],[100103,"Enlarged epiphysis of the distal phalanx of the 2nd toe",["Enlarged end part of the outermost bone of the 2nd toe"],[100047,100088]],[100104,"Fragmentation of the epiphysis of the distal phalanx of the 2nd toe",["Fragmentation of the end part of the outermost bone of the 2nd toe"],[100048,100088]],[100105,"Irregular epiphysis of the distal phalanx of the 2nd toe",["Irregular end part of the outermost bone of the 2nd toe"],[100049,100088]],[100106,"Ivory epiphysis of the distal phalanx of the 2nd toe",["Increased bone density of end part of the outermost bone of the 2nd toe"],[100050,100088]],[100107,"Pseudoepiphysis of the distal phalanx of the 2nd toe",[],[100051,100088]],[100108,"Small epiphysis of the distal phalanx of the 2nd toe",["Small end part of the outermost bone of the 2nd toe"],[100052,100088]],[100109,"Stippling of the epiphysis of the distal phalanx of the 2nd toe",["Speckled calcifications in the end part of the outermost bone of the 2nd toe"],[100053,100088]],[100110,"Triangular epiphysis of the distal phalanx of the 2nd toe",["Triangular end part of the outermost bone of the 2nd toe"],[100054,100088]],[100111,"Absent epiphysis of the middle phalanx of the 2nd toe",["Absent end part of the middle bone of the 2nd toe"],[100044,100089]],[100112,"Bracket epiphysis of the middle phalanx of the 2nd toe",["Bracket shaped end part of the middle bone of the 2nd toe"],[100045,100089]],[100113,"Cone-shaped epiphysis of the middle phalanx of the 2nd toe",["Cone-shaped end part of the middle bone of the 2nd toe"],[100046,100089]],[100114,"Enlarged epiphysis of the middle phalanx of the 2nd toe",["Enlarged end part of the middle bone of the 2nd toe"],[100047,100089]],[100115,"Fragmentation of the epiphysis of the middle phalanx of the 2nd toe",["Fragmentation of the end part of the middle bone of the 2nd toe"],[100048,100089]],[100116,"Irregular epiphysis of the middle phalanx of the 2nd toe",["Irregular end part of the middle bone of the 2nd toe"],[100049,100089]],[100117,"Ivory epiphysis of the middle phalanx of the 2nd toe",["Increased bone density of end part of the middle bone of the 2nd toe"],[100050,100089]],[100118,"Pseudoepiphysis of the middle phalanx of the 2nd toe",[],[100051,100089]],[100119,"Small epiphysis of the middle phalanx of the 2nd toe",["Small end part of the middle bone of the 2nd toe"],[100052,100089]],[100120,"Stippling of the epiphysis of the middle phalanx of the 2nd toe",["Speckled calcifications in of the end part of the middle bone of the 2nd toe"],[100053,100089]],[100121,"Triangular epiphysis of the middle phalanx of the 2nd toe",["Triangular end part of the middle bone of the 2nd toe"],[100054,100089]],[100122,"Absent epiphysis of the proximal phalanx of the 2nd toe",["Absent end part of the innermost bone of the 2nd toe"],[100044,100090]],[100123,"Bracket epiphysis of the proximal phalanx of the 2nd toe",["Bracket shaped end part of the innermost bone of the 2nd toe"],[100045,100090]],[100124,"Cone-shaped epiphysis of the proximal phalanx of the 2nd toe",["Cone-shaped end part of the innermost bone of the 2nd toe"],[100046,100090]],[100125,"Enlarged epiphysis of the proximal phalanx of the 2nd toe",["Enlarged end part of the innermost bone of the 2nd toe"],[100047,100090]],[100126,"Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe",["Fragmentation of the end part of the innermost bone of the 2nd toe"],[100048,100090]],[100127,"Irregular epiphysis of the proximal phalanx of the 2nd toe",["Irregular end part of the innermost bone of the 2nd toe"],[100049,100090]],[100128,"Ivory epiphysis of the proximal phalanx of the 2nd toe",["Increased bone density of end part of the innermost bone of the 2nd toe"],[100050,100090]],[100129,"Pseudoepiphysis of the proximal phalanx of the 2nd toe",[],[100051,100090]],[100130,"Small epiphysis of the proximal phalanx of the 2nd toe",["Small end part of the innermost bone of the 2nd toe"],[100052,100090]],[100131,"Stippling of the epiphysis of the proximal phalanx of the 2nd toe",["Speckled calcifications in the end part of the innermost bone of the 2nd toe"],[100053,100090]],[100132,"Triangular epiphysis of the proximal phalanx of the 2nd toe",["Triangular end part of the innermost bone of the 2nd toe"],[100054,100090]],[100133,"Abnormality of the pubic hair",[],[9888]],[100134,"Abnormality of the axillary hair",[],[9888]],[100135,"Absent epiphysis of the distal phalanx of the 3rd toe",["Absent end part of the outermost bone of the 3rd toe"],[100055,100091]],[100136,"Bracket epiphysis of the distal phalanx of the 3rd toe",["Bracket shaped end part of the outermost bone of the 3rd toe"],[100056,100091]],[100137,"Cone-shaped epiphysis of the distal phalanx of the 3rd toe",["Cone-shaped end part of the outermost bone of the 3rd toe"],[100057,100091]],[100138,"Enlarged epiphysis of the distal phalanx of the 3rd toe",["Enlarged end part of the outermost bone of the 3rd toe"],[100058,100091]],[100139,"Fragmentation of the epiphysis of the distal phalanx of the 3rd toe",["Fragmentation of the end part of the outermost bone of the 3rd toe"],[100059,100091]],[100140,"Irregular epiphysis of the distal phalanx of the 3rd toe",["Irregular end part of the outermost bone of the 3rd toe"],[100060,100091]],[100141,"Ivory epiphysis of the distal phalanx of the 3rd toe",["Increased bone density of end part of the outermost bone of the 3rd toe"],[100061,100091]],[100142,"Pseudoepiphysis of the distal phalanx of the 3rd toe",[],[100062,100091]],[100143,"Small epiphysis of the distal phalanx of the 3rd toe",["Small end part of the outermost bone of the 3rd toe"],[100063,100091]],[100144,"Stippling of the epiphysis of the distal phalanx of the 3rd toe",["Speckled calcifications in the end part of the outermost bone of the 3rd toe"],[100064,100091]],[100145,"Triangular epiphysis of the distal phalanx of the 3rd toe",["Triangular end part of the outermost bone of the 3rd toe"],[100065,100091]],[100146,"Absent epiphysis of the middle phalanx of the 3rd toe",["Absent end part of the middle bone of the 3rd toe"],[100055,100092]],[100147,"Bracket epiphysis of the middle phalanx of the 3rd toe",["Bracket shaped end part of the middle bone of 3rd toe"],[100056,100092]],[100148,"Cone-shaped epiphysis of the middle phalanx of the 3rd toe",["Cone-shaped end part of the middle bone of the 3rd toe"],[100057,100092]],[100149,"Enlarged epiphysis of the middle phalanx of the 3rd toe",["Enlarged end part of the middle bone of the 3rd toe"],[100058,100092]],[100150,"Fragmentation of the epiphysis of the middle phalanx of the 3rd toe",["Fragmentation of the end part of the middle bone of the 3rd toe"],[100059,100092]],[100151,"Irregular epiphysis of the middle phalanx of the 3rd toe",["Irregular end part of the middle bone of the 3rd toe"],[100060,100092]],[100152,"Ivory epiphysis of the middle phalanx of the 3rd toe",["Increased bone density of end part of the middle bone of the 3rd toe"],[100061,100092]],[100153,"Pseudoepiphysis of the middle phalanx of the 3rd toe",[],[100062,100092]],[100154,"Small epiphysis of the middle phalanx of the 3rd toe",["Small end part of the middle bone of the 3rd toe"],[100063,100092]],[100155,"Stippling of the epiphysis of the middle phalanx of the 3rd toe",["Speckled calcifications in the end part of the middle bone of the 3rd toe"],[100064,100092]],[100156,"Triangular epiphysis of the middle phalanx of the 3rd toe",["Triangular end part of the middle bone of the 3rd toe"],[100065,100092]],[100157,"Absent epiphysis of the proximal phalanx of the 3rd toe",["Absent end part of the innermost bone of the 3rd toe"],[100055,100093]],[100158,"Bracket epiphysis of the proximal phalanx of the 3rd toe",["Bracket shaped end part of the innermost bone of 3rd toe"],[100056,100093]],[100159,"Cone-shaped epiphysis of the proximal phalanx of the 3rd toe",["Cone-shaped end part of the innermost bone of the 3rd toe"],[100057,100093]],[100160,"Enlarged epiphysis of the proximal phalanx of the 3rd toe",["Enlarged end part of the innermost bone of the 3rd toe"],[100058,100093]],[100161,"Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe",["Fragmentation of the end part of the innermost bone of the 3rd toe"],[100059,100093]],[100162,"Irregular epiphysis of the proximal phalanx of the 3rd toe",["Irregular end part of the innermost bone of the 3rd toe"],[100060,100093]],[100163,"Ivory epiphysis of the proximal phalanx of the 3rd toe",["Increased bone density of end part of the innermost bone of the 3rd toe"],[100061,100093]],[100164,"Pseudoepiphysis of the proximal phalanx of the 3rd toe",[],[100062,100093]],[100165,"Small epiphysis of the proximal phalanx of the 3rd toe",["Small end part of the innermost bone of the 3rd toe"],[100063,100093]],[100166,"Stippling of the epiphysis of the proximal phalanx of the 3rd toe",["Speckled calcifications in of the end part of the innermost bone of the 3rd toe"],[100064,100093]],[100167,"Triangular epiphysis of the proximal phalanx of the 3rd toe",["Triangular end part of the innermost bone of the 3rd toe"],[100065,100093]],[100168,"Fragmented epiphyses",["Fragmented end part of bone"],[5930]],[100169,"Absent epiphysis of the distal phalanx of the 4th toe",["Absent end part of the outermost bone of the 4th toe"],[100066,100094]],[100170,"Bracket epiphysis of the distal phalanx of the 4th toe",["Bracket shaped end part of the outermost bone of the 4th toe"],[100067,100094]],[100171,"Cone-shaped epiphysis of the distal phalanx of the 4th toe",["Cone-shaped end part of the outermost bone of the 4th toe"],[100068,100094]],[100172,"Enlarged epiphysis of the distal phalanx of the 4th toe",["Enlarged end part of the outermost bone of the 4th toe"],[100069,100094]],[100173,"Fragmentation of the epiphysis of the distal phalanx of the 4th toe",["Fragmentation of the end part of the outermost bone of the 4th toe"],[100070,100094]],[100174,"Irregular epiphysis of the distal phalanx of the 4th toe",["Irregular end part of the outermost bone of the 4th toe"],[100071,100094]],[100175,"Ivory epiphysis of the distal phalanx of the 4th toe",["Increased bone density of end part of the outermost bone of the 4th toe"],[100072,100094]],[100176,"Pseudoepiphysis of the distal phalanx of the 4th toe",[],[100073,100094]],[100177,"Small epiphysis of the distal phalanx of the 4th toe",["Small end part of the outermost bone of the 4th toe"],[100074,100094]],[100178,"Stippling of the epiphysis of the distal phalanx of the 4th toe",["Speckled calcifications in the end part of the outermost bone of the 4th toe"],[100075,100094]],[100179,"Triangular epiphysis of the distal phalanx of the 4th toe",["Triangular end part of the outermost bone of the 4th toe"],[100076,100094]],[100180,"Absent epiphysis of the middle phalanx of the 4th toe",["Absent end part of the middle bone of the 4th toe"],[100066,100095]],[100181,"Bracket epiphysis of the middle phalanx of the 4th toe",["Bracket shaped end part of the middle bone of the 4th toe"],[100067,100095]],[100182,"Cone-shaped epiphysis of the middle phalanx of the 4th toe",["Cone-shaped end part of the middle bone of the 4th toe"],[100068,100095]],[100183,"Enlarged epiphysis of the middle phalanx of the 4th toe",["Enlarged end part of the middle bone of the 4th toe"],[100069,100095]],[100184,"Fragmentation of the epiphysis of the middle phalanx of the 4th toe",["Fragmentation of the end part of the middle bone of the 4th toe"],[100070,100095]],[100185,"Irregular epiphysis of the middle phalanx of the 4th toe",["Irregular end part of the middle bone of the 4th toe"],[100071,100095]],[100186,"Ivory epiphysis of the middle phalanx of the 4th toe",["Increased bone density of end part of the middle bone of the 4th toe"],[100072,100095]],[100187,"Pseudoepiphysis of the middle phalanx of the 4th toe",[],[100073,100095]],[100188,"Small epiphysis of the middle phalanx of the 4th toe",["Small end part of middle long bone of 4th toe"],[100074,100095]],[100189,"Stippling of the epiphysis of the middle phalanx of the 4th toe",["Speckled calcifications in the end part of the middle bone of the 4th toe"],[100075,100095]],[100190,"Triangular epiphysis of the middle phalanx of the 4th toe",["Triangular end part of the middle bone of the 4th toe"],[100076,100095]],[100191,"Absent epiphysis of the proximal phalanx of the 4th toe",["Absent end part of the innermost bone of the 4th toe"],[100066,100096]],[100192,"Bracket epiphysis of the proximal phalanx of the 4th toe",["Bracket shaped end part of the innermost bone of 4th toe"],[100067,100096]],[100193,"Cone-shaped epiphysis of the proximal phalanx of the 4th toe",["Cone-shaped end part of the innermost bone of the 4th toe"],[100068,100096]],[100194,"Enlarged epiphysis of the proximal phalanx of the 4th toe",["Enlarged end part of the innermost bone of the 4th toe"],[100069,100096]],[100195,"Fragmentation of the epiphysis of the proximal phalanx of the 4th toe",["Fragmentation of the end part of the innermost bone of the 4th toe"],[100070,100096]],[100196,"Irregular epiphysis of the proximal phalanx of the 4th toe",["Irregular end part of the innermost bone of the 4th toe"],[100071,100096]],[100197,"Ivory epiphysis of the proximal phalanx of the 4th toe",["Increased bone density of end part of the innermost bone of the 4th toe"],[100072,100096]],[100198,"Pseudoepiphysis of the proximal phalanx of the 4th toe",[],[100073,100096]],[100199,"Small epiphysis of the proximal phalanx of the 4th toe",["Small end part of the innermost bone of the 4th toe"],[100074,100096]],[100200,"Stippling of the epiphysis of the proximal phalanx of the 4th toe",["Speckled calcifications in the end part of the innermost bone of the 4th toe"],[100075,100096]],[100201,"Triangular epiphysis of the proximal phalanx of the 4th toe",["Triangular end part of the innermost bone of the 4th toe"],[100076,100096]],[100202,"Absent epiphysis of the distal phalanx of the 5th toe",["Absent end part of the outermost bone of the little toe","Absent end part of the outermost bone of the pinkie toe","Absent end part of the outermost bone of the pinky toe"],[100077,100097]],[100203,"Bracket epiphysis of the distal phalanx of the 5th toe",["Bracket shaped end part of the outermost bone of the little toe","Bracket shaped end part of the outermost bone of the pinkie toe","Bracket shaped end part of the outermost bone of the pinky toe"],[100078,100097]],[100204,"Cone-shaped epiphysis of the distal phalanx of the 5th toe",["Cone-shaped end part of the outermost bone of the little toe","Cone-shaped end part of the outermost bone of the pinkie toe","Cone-shaped end part of the outermost bone of the pinky toe"],[100079,100097]],[100205,"Enlarged epiphysis of the distal phalanx of the 5th toe",["Enlarged end part of the outermost bone of the little toe","Enlarged end part of the outermost bone of the pinkie toe","Enlarged end part of the outermost bone of the pinky toe"],[100080,100097]],[100206,"Fragmentation of the epiphysis of the distal phalanx of the 5th toe",["Fragmentation of the end part of the outermost bone of the little toe","Fragmentation of the end part of the outermost bone of the pinkie toe","Fragmentation of the end part of the outermost bone of the pinky toe"],[100081,100097]],[100207,"Irregular epiphysis of the distal phalanx of the 5th toe",["Irregular end part of the outermost bone of the little toe","Irregular end part of the outermost bone of the pinkie toe","Irregular end part of the outermost bone of the pinky toe"],[100082,100097]],[100208,"Ivory epiphysis of the distal phalanx of the 5th toe",["Increased bone density of end part of the outermost bone of the little toe","Increased bone density of end part of the outermost bone of the pinkie toe","Increased bone density of end part of the outermost bone of the pinky toe"],[100083,100097]],[100209,"Pseudoepiphysis of the distal phalanx of the 5th toe",[],[100084,100097]],[100210,"Small epiphysis of the distal phalanx of the 5th toe",["Small end part of the outermost bone of the little toe","Small end part of the outermost bone of the pinkie toe","Small end part of the outermost bone of the pinky toe"],[100085,100097]],[100211,"Stippling of the epiphysis of the distal phalanx of the 5th toe",["Speckled calcifications in the end part of the outermost bone of the little toe","Speckled calcifications in the end part of the outermost bone of the pinkie toe","Speckled calcifications in the end part of the outermost bone of the pinky toe"],[100086,100097]],[100212,"Triangular epiphysis of the distal phalanx of the 5th toe",["Triangular end part of the outermost bone of the little toe","Triangular end part of the outermost bone of the pinkie toe","Triangular end part of the outermost bone of the pinky toe"],[100087,100097]],[100213,"Absent epiphysis of the middle phalanx of the 5th toe",["Absent end part of the middle bone of the little toe","Absent end part of the middle bone of the pinkie toe","Absent end part of the middle bone of the pinky toe"],[100077,100098]],[100214,"Bracket epiphysis of the middle phalanx of the 5th toe",["Bracket shaped end part of the middle bone of the little toe","Bracket shaped end part of the middle bone of the pinkie toe","Bracket shaped end part of the middle bone of the pinky toe"],[100078,100098]],[100215,"Cone-shaped epiphysis of the middle phalanx of the 5th toe",["Cone-shaped end part of the middle bone of the little toe","Cone-shaped end part of the middle bone of the pinkie toe","Cone-shaped end part of the middle bone of the pinky toe"],[100079,100098]],[100216,"Enlarged epiphysis of the middle phalanx of the 5th toe",["Enlarged end part of the middle bone of the little toe","Enlarged end part of the middle bone of the pinkie toe","Enlarged end part of the middle bone of the pinky toe"],[100080,100098]],[100217,"Fragmentation of the epiphysis of the middle phalanx of the 5th toe",["Fragmentation of the end part of the middle bone of the little toe","Fragmentation of the end part of the middle bone of the pinkie toe","Fragmentation of the end part of the middle bone of the pinky toe"],[100081,100098]],[100218,"Irregular epiphysis of the middle phalanx of the 5th toe",["Irregular end part of the middle bone of the little toe","Irregular end part of the middle bone of the pinkie toe","Irregular end part of the middle bone of the pinky toe"],[100082,100098]],[100219,"Ivory epiphysis of the middle phalanx of the 5th toe",["Increased bone density of end part of the middle bone of the little toe","Increased bone density of end part of the middle bone of the pinkie toe","Increased bone density of end part of the middle bone of the pinky toe"],[100083,100098]],[100220,"Pseudoepiphysis of the middle phalanx of the 5th toe",[],[100084,100098]],[100221,"Small epiphysis of the middle phalanx of the 5th toe",["Small end part of the middle bone of the little toe","Small end part of the middle bone of the pinkie toe","Small end part of the middle bone of the pinky toe"],[100085,100098]],[100222,"Stippling of the epiphysis of the middle phalanx of the 5th toe",["Speckled calcifications in end part of the innermost bone of the pinkie toe","Speckled calcifications in middle part of the innermost bone of the little toe","Speckled calcifications in middle part of the innermost bone of the pinky toe"],[100086,100098]],[100223,"Triangular epiphysis of the middle phalanx of the 5th toe",["Triangular end part of the middle bone of the little toe","Triangular end part of the middle bone of the pinkie toe","Triangular end part of the middle bone of the pinky toe"],[100087,100098]],[100224,"Absent epiphysis of the proximal phalanx of the 5th toe",["Absent end part of the innermost bone of the little toe","Absent end part of the innermost bone of the pinkie toe","Absent end part of the innermost bone of the pinky toe"],[100077,100099]],[100225,"Bracket epiphysis of the proximal phalanx of the 5th toe",["Bracket shaped end part of the innermost bone of the little toe","Bracket shaped end part of the innermost bone of the pinkie toe","Bracket shaped end part of the innermost bone of the pinky toe"],[100078,100099]],[100226,"Cone-shaped epiphysis of the proximal phalanx of the 5th toe",["Cone-shaped end part of the innermost bone of the little toe","Cone-shaped end part of the innermost bone of the pinkie toe","Cone-shaped end part of the innermost bone of the pinky toe"],[100079,100099]],[100227,"Enlarged epiphysis of the proximal phalanx of the 5th toe",["Enlarged end part of the innermost bone of the little toe","Enlarged end part of the innermost bone of the pinkie toe","Enlarged end part of the innermost bone of the pinky toe"],[100080,100099]],[100228,"Fragmentation of the epiphysis of the proximal phalanx of the 5th toe",["Fragmentation of the end part of the innermost bone of the little toe","Fragmentation of the end part of the innermost bone of the pinkie toe","Fragmentation of the end part of the innermost bone of the pinky toe"],[100081,100099]],[100229,"Irregular epiphysis of the proximal phalanx of the 5th toe",["Irregular end part of the innermost bone of the little toe","Irregular end part of the innermost bone of the pinkie toe","Irregular end part of the innermost bone of the pinky toe"],[100082,100099]],[100230,"Ivory epiphysis of the proximal phalanx of the 5th toe",["Increased bone density of end part of the innermost bone of the little toe","Increased bone density of end part of the innermost bone of the pinkie toe","Increased bone density of end part of the innermost bone of the pinky toe"],[100083,100099]],[100231,"Pseudoepiphysis of the proximal phalanx of the 5th toe",[],[100084,100099]],[100232,"Small epiphysis of the proximal phalanx of the 5th toe",["Small end part of the innermost bone of the little toe","Small end part of the innermost bone of the pinkie toe","Small end part of the innermost bone of the pinky toe"],[100085,100099]],[100233,"Stippling of the epiphysis of the proximal phalanx of the 5th toe",["Speckled calcifications in the end part of the innermost bone of the little toe","Speckled calcifications in the end part of the innermost bone of the pinkie toe","Speckled calcifications in the end part of the innermost bone of the pinky toe"],[100086,100099]],[100234,"Triangular epiphysis of the proximal phalanx of the 5th toe",["Triangular end part of the innermost bone of the little toe","Triangular end part of the innermost bone of the pinkie toe","Triangular end part of the innermost bone of the pinky toe"],[100087,100099]],[100235,"Toe phalanx synostosis",[],[9140]],[100238,"Synostosis involving bones of the upper limbs",["Fusion involving bones of the upper limbs"],[9810,100240]],[100240,"Synostosis of joints",["Bony ankylosis","Fusion of joints"],[1367,11729]],[100241,"Ectopic respiratory mucosa",[],[2973,12253]],[100242,"Sarcoma",["Cancer of connective tissue","Malignant connective tissue tumor","Malignant connective tissue tumour"],[11792]],[100243,"Leiomyosarcoma",[],[30448]],[100244,"Fibrosarcoma",[],[30448]],[100245,"Gastrointestinal desmoid tumor",["Gastrointestinal desmoid tumors","Gastrointestinal desmoid tumours"],[7378,6001034]],[100246,"Osteoma",[],[10622]],[100247,"Recurrent singultus",["Recurrent hiccough","Recurrent hiccup","Recurrent synchronous diaphragmatic flutter","Hiccup","Hiccups"],[25142]],[100248,"Hemiballismus",["Ballismus"],[4305]],[100249,"Calcification of muscles",["Skeletal muscle calcinosis"],[10766,11805]],[100250,"Meningeal calcification",[],[10651,430048]],[100251,"Multiple central nervous system lipomas",["Lipomas of the central nervous system"],[1012,100835]],[100252,"Diaphyseal dysplasia",[],[940,2652]],[100253,"Abnormality of the medullary cavity of the long bones",["Abnormality of the marrow cavity of the long bones"],[940]],[100254,"Stenosis of the medullary cavity of the long bones",[],[100253]],[100255,"Metaphyseal dysplasia",[],[944,2652]],[100256,"Senile plaques",["Braindruse","Neuritic plaques","Senile druse"],[7367]],[100257,"Ectrodactyly",["Cleft hand","Lobster claw hand"],[2813]],[100258,"Preaxial polydactyly",["Polydactyly, preaxial"],[10442]],[100259,"Postaxial polydactyly",["Polydactyly, postaxial","Postaxial hexadactyly"],[10442]],[100260,"Mesoaxial polydactyly",["Central polydactyly","Intercalary polydactyly","Insertional polydactyly"],[10442]],[100261,"Abnormal tendon morphology",["Abnormal shape of tendon","Abnormality of the sinew"],[11842]],[100262,"Synostosis involving digits",["Fusion involving digits"],[100240]],[100263,"Distal symphalangism",["Symphalangism, distal"],[100262]],[100264,"Proximal symphalangism",["Cushing's symphalangism"],[100262]],[100265,"Synostosis of metacarpals/metatarsals",["Fusion of long bones of hand/long bones of foot"],[100240]],[100266,"Synostosis of carpals/tarsals",["Carpal and tarsal fusions","Coalescence of carpal and tarsal bones","Fusion of carpal and tarsal bones","Wrist bone/ankle bone fusions"],[100240]],[100267,"Lip pit",[],[159,100276]],[100268,"Upper lip pit",[],[177,100269]],[100269,"Paramedian lip pit",["Paramedian labial pits"],[100267]],[100270,"Abnormality of dorsoventral patterning of the limbs",[],[1155,1760]],[100271,"Hyponasal speech",[],[1608]],[100272,"Branchial sinus",["Branchial cleft sinus"],[9794]],[100273,"Neoplasm of the colon",["Colon tumor","Colon tumour"],[100834]],[100274,"Gustatory lacrimation",[],[632,31910]],[100275,"Diffuse cerebellar atrophy",[],[1272]],[100276,"Skin pit",["Skin pits"],[11355]],[100277,"Periauricular skin pits",["Periauricular earpits","Periauricular fistulas","Periauricular pits","Periauricular sinus","Pits around the ear"],[383,100276]],[100279,"Ulcerative colitis",["Colitis ulcerosa"],[100281]],[100280,"Crohn's disease",["Granulomatous enteritis and colitis","Morbus Crohn"],[4386]],[100281,"Chronic colitis",[],[2583]],[100282,"Acute colitis",[],[2583]],[100283,"EMG: continuous motor unit activity at rest",[],[3457]],[100284,"EMG: myotonic discharges",[],[3457]],[100285,"EMG: impaired neuromuscular transmission",[],[3457]],[100287,"EMG: slow motor conduction",[],[3457]],[100288,"EMG: myokymic discharges",[],[2411,3457]],[100289,"Abnormality of pattern reversal visual evoked potentials",["Abnormality of pattern reversal VEP"],[30455]],[100290,"Abnormality of peripheral somatosensory evoked potentials",[],[7377]],[100291,"Delayed somatosensory central conduction time",[],[7377]],[100292,"Amyloidosis of peripheral nerves",[],[759,20015]],[100293,"Hypertrophied muscle fibers",["Muscle fiber hypertrophy","Muscle fibre hypertrophy"],[4303]],[100295,"Muscle fiber atrophy",["Muscle fiber degeneration","Muscle fibre degeneration"],[4303]],[100296,"Perifascicular muscle fiber atrophy",["Perifascicular muscle fibre atrophy"],[4303]],[100297,"Increased endomysial connective tissue",["Endomysial fibrosis"],[4303]],[100298,"Motheaten muscle fibers",["Motheaten muscle fibres"],[4303]],[100299,"Muscle fiber inclusion bodies",["Muscle fibre inclusion bodies"],[4303,20067]],[100300,"Desmin bodies",[],[100303]],[100301,"Muscle fiber tubular inclusions",["Muscle fiber tubular aggregates","Muscle fibre tubular aggregates","Muscle fibre tubular inclusions"],[100303]],[100302,"Muscle fiber tubuloreticular inclusions",["Muscle fiber tubuloreticular aggregates","Muscle fibre tubuloreticular aggregates","Muscle fibre tubuloreticular inclusions"],[100303]],[100303,"Muscle fiber cytoplasmatic inclusion bodies",["Muscle fiber cytoplasmic bodies","Muscle fibre cytoplasmatic inclusion bodies","Muscle fibre cytoplasmic bodies"],[100299]],[100304,"Muscle fiber intranuclear inclusion bodies",["Muscle fibre intranuclear inclusion bodies"],[20068,100299]],[100305,"Ring fibers",["Ring fibres"],[4303]],[100306,"Muscle fiber hyaline bodies",["Muscle fibre hyaline bodies"],[100303]],[100307,"Cerebellar hemisphere hypoplasia",[],[1321]],[100308,"Cerebral cortical hemiatrophy",[],[2120]],[100309,"Subdural hemorrhage",["Subdural haematoma","Subdural haemorrhage","Subdural hematoma"],[2170]],[100310,"Epidural hemorrhage",["Epidural haematoma","Epidural haemorrhage","Epidural hematoma","Extradural haematoma","Extradural hematoma"],[2170]],[100311,"Cerebral ventricular adhesions",[],[2118]],[100312,"Cerebral germinoma",[],[100620,100835,100836]],[100313,"Cerebral granulomatosis",[],[2060,2955]],[100314,"Cerebral inclusion bodies",[],[2060]],[100315,"Lewy bodies",["Lewy body disease"],[100314]],[100316,"Hirano bodies",[],[100314]],[100317,"Argyrophilic inclusion bodies",["Agyrophilic inclusion bodies","Pick inclusion bodies"],[100314]],[100318,"Lafora bodies",[],[100314]],[100319,"Cerebral hyaline bodies",["Cerebral colloid bodies"],[100314]],[100320,"Rosenthal fibers",["Rosenthal fibres"],[100314]],[100321,"Abnormal dentate nucleus morphology",["Abnormality of the dentate nucleus"],[1317]],[100322,"Aplasia of the pyramidal tract",["Absent pyramidal tract"],[7363]],[100323,"Juvenile aseptic necrosis",["Aseptic epiphyseal necrosis"],[10885]],[100324,"Scleroderma",["Progressive systemic scleroderma","Pseudoscleroderma"],[1072]],[100326,"Immunologic hypersensitivity",[],[10978]],[100327,"Cow milk allergy",["IgE-mediated cow milk allergy","Immunoglobulin E-mediated cow milk allergy","Milk allergy"],[410327]],[100328,"Carpometacarpal synostosis",["Fused wrist bones and long bones of hand"],[9701,9702]],[100329,"Tarsometatarsal synostosis",["Fused bones of the midfoot"],[1440,8368]],[100333,"Unilateral cleft lip",["One sided cleft upper lip","Unilateral cheiloschisis","Unilateral cleft upper lip"],[100335]],[100334,"Unilateral cleft palate",["One sided cleft palate","Unilateral palatoschisis"],[100338]],[100335,"Non-midline cleft of the upper lip",["Paramedian cleft of the upper lip"],[202,204]],[100336,"Bilateral cleft lip",["Bilateral cheiloschisis","Both sided cleft lip","Right and left cleft lip"],[100335]],[100337,"Bilateral cleft palate",["Bilateral palatoschisis","Right and left cleft palate"],[100338]],[100338,"Non-midline cleft palate",["Paramedian cleft palate"],[175]],[100339,"Abnormality of the os naviculare pedis",[],[1850]],[100340,"Fibular deviation of the 4th toe",[],[10338]],[100341,"Tibial deviation of the 4th toe",[],[10338]],[100342,"Fibular deviation of the 3rd toe",[],[10332]],[100343,"Tibial deviation of the 3rd toe",[],[10332]],[100344,"Fibular deviation of the 2nd toe",[],[10326]],[100345,"Tibial deviation of the 2nd toe",[],[10326]],[100346,"Fibular deviation of the 5th toe",[],[10344]],[100347,"Tibial deviation of the 5th toe",[],[10344]],[100348,"Contracture of the proximal interphalangeal joint of the 2nd toe",["Camptodactyly of the 2nd toe","Camptodactyly of the second toe"],[1836,10327]],[100349,"Contracture of the proximal interphalangeal joint of the 3rd toe",["Camptodactyly of the 3rd toe"],[1836,10333]],[100350,"Contracture of the proximal interphalangeal joint of the 4th toe",["Camptodactyly of the 4th toe","Camptodactyly of the fourth toe","Contracture of the innermost hinge joint of the 4th toe"],[1836,10339]],[100351,"Contractures of the proximal interphalangeal joint of the 5th toe",["Camptodactyly of the 5th toe","Camptodactyly of the fifth toe"],[1836,10345]],[100352,"Contracture of the distal interphalangeal joint of the 2nd toe",["Contracture of the distal interphalangeal joint of the second toe"],[10327]],[100353,"Contracture of the distal interphalangeal joint of the 3rd toe",[],[10333]],[100354,"Contracture of the distal interphalangeal joint of the 4th toe",[],[10339]],[100355,"Contractures of the distal interphalangeal joint of the 5th toe",["Contracture of the outermost hinge joint of the 5th toe"],[10345]],[100356,"Contracture of the metatarsophalangeal joint of the 2nd toe",[],[10327]],[100357,"Contracture of the metatarsophalangeal joint of the 3rd toe",[],[10333]],[100358,"Contracture of the metatarsophalangeal joint of the 4th toe",[],[10339]],[100359,"Contracture of the metatarsophalangeal joint of the 5th toe",[],[10345]],[100360,"Upper-limb joint contracture",["Contractures of the joints of the upper limbs"],[3121]],[100362,"Aplasia of the phalanges of the 3rd toe",["Absent digital bone of the 3rd toe"],[10331,10359,10745]],[100363,"Aplasia of the phalanges of the 4th toe",["Absent bones of the 4th toe"],[10337,10371,10745]],[100364,"Aplasia of the phalanges of the 5th toe",["Absent little toe bones","Absent pinkie toe bones","Absent pinky toe bones"],[10343,10383,10745]],[100366,"Short phalanx of the 3rd toe",["Hypoplastic/small phalanges of the 3rd toe","Short 3rd toe bone","Short phalanx of the third toe"],[10331,10359,10746]],[100367,"Short phalanx of the 4th toe",["Hypoplastic/small phalanges of the 4th toe","Short 4th toe bone","Short phalanx of the fourth toe"],[10337,10371,10746]],[100368,"Short phalanx of the 5th toe",["Hypoplastic/small phalanges of the 5th toe","Short little toe bone","Short phalanx of the fifth toe","Short pinkie toe bone","Short pinky toe bone"],[10343,10383,10746]],[100369,"Aplasia/Hypoplasia of the distal phalanx of the 3rd toe",["Absent/small outermost 3rd toe bone","Absent/underdeveloped outermost 3rd toe bone"],[10185,10331,10359,10368]],[100370,"Aplasia/Hypoplasia of the distal phalanx of the 4th toe",["Absent/small outermost bone of 4th toe","Absent/underdeveloped outermost bone of 4th toe"],[10185,10337,10371,10380]],[100371,"Aplasia/Hypoplasia of the distal phalanx of the 5th toe",["Absent/small outermost little toe bone","Absent/small outermost pinkie toe bone","Absent/small outermost pinky toe bone","Absent/underdeveloped outermost pinky toe bone"],[10185,10343,10383,10392]],[100372,"Aplasia/Hypoplasia of the middle phalanx of the 3rd toe",["Absent/small middle 3rd toe bone","Absent/underdeveloped middle 3rd toe bone"],[10194,10331,10359,10369]],[100373,"Aplasia/Hypoplasia of the middle phalanx of the 4th toe",["Absent/small middle bone of the 4th toe","Absent/underdeveloped middle bone of the 4th toe"],[10194,10337,10371,10381]],[100374,"Aplasia/Hypoplasia of the middle phalanx of the 5th toe",["Absent/small middle 5th toe bone","Absent/underdeveloped middle bone of little toe","Absent/underdeveloped middle bone of pinkie toe","Absent/underdeveloped middle bone of pinky toe"],[10194,10343,10383,10393]],[100375,"Aplasia/hypoplasia of the proximal phalanx of the 3rd toe",["Absent/small innermost bone of 3rd toe","Absent/underdeveloped innermost bone of 3rd toe"],[10203,10331,10359,10370]],[100376,"Aplasia/hypoplasia of the proximal phalanx of the 4th toe",["Absent/small innermost 4th toe bone","Absent/underdeveloped innermost 4th toe bone"],[10203,10337,10371,10382]],[100377,"Aplasia/hypoplasia of the proximal phalanx of the 5th toe",["Absent/small innermost little toe bone","Absent/small innermost pinkie toe bone","Absent/small innermost pinky toe bone","Absent/underdeveloped innermost 5th toe bone"],[10203,10343,10383,10394]],[100378,"Absent distal phalanx of the 3rd toe",["Absent distal phalanx of the third toe","Absent outermost bone of the 3rd toe","Aplasia of the distal phalanx of the 3rd toe"],[10645,100362,100369]],[100379,"Aplasia of the distal phalanx of the 4th toe",["Absent distal phalanx of the 4th toe","Absent outermost bone of the 4th toe"],[10645,100363,100370]],[100380,"Aplasia of the distal phalanx of the 5th toe",["Absent outermost bone of the little toe","Absent outermost bone of the pinkie toe","Absent outermost bone of the pinky toe"],[10645,100364,100371]],[100381,"Absent middle phalanx of the 3rd toe",["Absent middle bone of the 3rd toe","Absent middle phalanx of the third toe","Aplasia of the middle phalanx of the 3rd toe"],[100362,100372,100387]],[100382,"Aplasia of the middle phalanx of the 4th toe",["Absent middle bone of 4th toe"],[100363,100373,100387]],[100383,"Aplasia of the middle phalanx of the 5th toe",["Absent middle bone of little toe","Absent middle bone of pinkie toe","Absent middle bone of pinky toe"],[100364,100374,100387]],[100384,"Absent proximal phalanx of the 3rd toe",["Absent innermost bone of the 3rd toe","Aplasia of the proximal phalanx of the 3rd toe"],[100362,100375,100388]],[100385,"Aplasia of the proximal phalanx of the 4th toe",["Absent innermost bone of the 4th toe"],[100363,100376,100388]],[100386,"Aplasia of the proximal phalanx of the 5th toe",["Absent innermost bone of the little toe","Absent innermost bone of the pinkie toe","Absent innermost bone of the pinky toe"],[100364,100377,100388]],[100387,"Aplasia of the middle phalanges of the toes",["Absent middle toe bones"],[10745]],[100388,"Aplasia of the proximal phalanges of the toes",["Absent innermost toe bones"],[10745]],[100389,"Short distal phalanx of the 3rd toe",["Hypoplastic/small distal phalanx of the 3rd toe","Short distal phalanx of the third toe","Short outermost bone of the 3rd toe"],[100366,100369]],[100390,"Short distal phalanx of the 4th toe",["Hypoplastic/small distal phalanx of the 4th toe","Short distal phalanx of the fourth toe","Short outermost bone of the 4th toe"],[100367,100370]],[100391,"Short distal phalanx of the 5th toe",["Hypoplastic/small distal phalanx of the 5th toe","Short distal phalanx of the fifth toe","Short outermost bone of the little toe","Short outermost bone of the pinkie toe","Short outermost bone of the pinky toe"],[100368,100371]],[100392,"Short middle phalanx of the 3rd toe",["Hypoplastic/small middle phalanx of the 3rd toe","Short middle phalanx of the third toe"],[100366,100372]],[100393,"Short middle phalanx of the 4th toe",["Hypoplastic/small middle phalanx of the 4th toe","Short middle bone of 4th toe","Short middle phalanx of the fourth toe"],[100367,100373]],[100394,"Short middle phalanx of the 5th toe",["Hypoplastic/small middle phalanx of the 5th toe","Short middle bone of little toe","Short middle bone of pinkie toe","Short middle bone of pinky toe","Short middle phalanx of the fifth toe"],[100368,100374]],[100395,"Short proximal phalanx of the 3rd toe",["Hypoplastic/small proximal phalanx of the 3rd toe","Short proximal phalanx of the third toe"],[100366,100375]],[100396,"Short proximal phalanx of the 4th toe",["Hypoplastic/small proximal phalanx of the 4th toe","Short fourth toe proximal phalanx","Short proximal phalanx of the fourth toe"],[100367,100376]],[100397,"Short proximal phalanx of the 5th toe",["Hypoplastic/small proximal phalanx of the 5th toe","Short innermost bone of little toe","Short innermost bone of pinkie toe","Short innermost bone of pinky toe","Short proximal phalanx of the fifth toe"],[100368,100377]],[100398,"Duplication of the distal phalanx of the 3rd toe",["Duplication of the distal phalanx of the third toe","Duplication of the outermost bone of the 3rd toe","Partial/complete duplication of the distal phalanx of the 3rd toe"],[10367,10368]],[100399,"Duplication of the distal phalanx of the 4th toe",["Duplication of the distal phalanx of the fourth toe","Duplication of the outermost bone of the 4th toe","Partial/complete duplication of the distal phalanx of the 4th toe"],[10379,10380]],[100400,"Duplication of the distal phalanx of the 5th toe",["Duplication of the distal phalanx of the fifth toe","Duplication of the outermost bone of the fifth toe","Duplication of the outermost bone of the little toe","Duplication of the outermost bone of the pinkie toe","Duplication of the outermost bone of the pinky toe","Partial/complete duplication of the distal phalanx of the 5th toe"],[10391,10392]],[100401,"Duplication of the middle phalanx of the 3rd toe",["Duplication of the middle bone of the 3rd toe","Duplication of the middle phalanx of the third toe","Partial/complete duplication of the middle phalanx of the 3rd toe"],[10202,10367,10369]],[100402,"Duplication of the middle phalanx of the 4th toe",["Duplication of the middle bone of the 4th toe","Duplication of the middle phalanx of the fourth toe","Partial/complete duplication of the middle phalanx of the 4th toe"],[10379,10381]],[100403,"Duplication of the middle phalanx of the 5th toe",["Duplication of the middle bone of the little toe","Duplication of the middle bone of the pinkie toe","Duplication of the middle bone of the pinky toe","Duplication of the middle phalanx of the fifth toe","Partial/complete duplication of the middle phalanx of the 5th toe"],[10202,10391,10393]],[100404,"Duplication of the proximal phalanx of the 3rd toe",["Duplication of the innermost 3rd toe bone","Duplication of the proximal phalanx of the third toe","Partial/complete duplication of the proximal phalanx of the 3rd toe"],[10211,10367,10370]],[100405,"Duplication of the proximal phalanx of the 4th toe",["Duplication of the innermost 4th toe bone","Duplication of the proximal phalanx of the fourth toe","Partial/complete duplication of the proximal phalanx of the 4th toe"],[10211,10379,10382]],[100406,"Duplication of the proximal phalanx of the 5th toe",["Duplication of the innermost bone of the little toe","Duplication of the innermost bone of the pinkie toe","Duplication of the innermost bone of the pinky toe","Duplication of the proximal phalanx of the fifth toe","Partial/complete duplication of the proximal phalanx of the 5th toe"],[10391,10394]],[100407,"Complete duplication of the distal phalanx of the 3rd toe",["Complete duplication of the distal phalanx of the third toe","Complete duplication of the outermost bone of the 3rd toe"],[100398]],[100408,"Complete duplication of the distal phalanx of the 4th toe",["Complete duplication of the distal phalanx of the fourth toe","Complete duplication of the outermost bone of the 4th toe"],[100399]],[100409,"Complete duplication of the distal phalanx of the 5th toe",["Complete duplication of the distal phalanx of the fifth toe","Complete duplication of the outermost bone of the little toe","Complete duplication of the outermost bone of the pinkie toe","Complete duplication of the outermost bone of the pinky toe"],[100400]],[100410,"Complete duplication of the middle phalanx of the 3rd toe",["Complete duplication of the middle bone of the 3rd toe","Complete duplication of the middle phalanx of the third toe"],[100401]],[100411,"Complete duplication of the middle phalanx of the 4th toe",["Complete duplication of the middle bone of the 4th toe","Complete duplication of the middle phalanx of the fourth toe"],[100402]],[100412,"Complete duplication of the middle phalanx of the 5th toe",["Complete duplication of the middle bone of the little toe","Complete duplication of the middle bone of the pinkie toe","Complete duplication of the middle bone of the pinky toe","Complete duplication of the middle phalanx of the fifth toe"],[100403]],[100413,"Complete duplication of the proximal phalanx of the 3rd toe",["Complete duplication of the innermost 3rd toe bone"],[100404]],[100414,"Complete duplication of the proximal phalanx of the 4th toe",["Complete duplication of the innermost 4th toe bone"],[100405]],[100415,"Complete duplication of the proximal phalanx of the 5th toe",["Complete duplication of the innermost bone of the little toe","Complete duplication of the innermost bone of the pinkie toe","Complete duplication of the innermost bone of the pinky toe","Complete duplication of the proximal phalanx of the fifth toe"],[100406]],[100416,"Partial duplication of the distal phalanx of the 3rd toe",["Partial duplication of the distal phalanx of the third toe","Partial duplication of the outermost bone of the 3rd toe"],[100398]],[100417,"Partial duplication of the distal phalanx of the 4th toe",["Partial duplication of the distal phalanx of the fourth toe","Partial duplication of the outermost bone of the fourth toe"],[100399]],[100418,"Partial duplication of the distal phalanx of the 5th toe",["Partial duplication of the distal phalanx of the fifth toe","Partial duplication of the outermost bone of the fifth toe","Partial duplication of the outermost bone of the little toe","Partial duplication of the outermost bone of the pinkie toe","Partial duplication of the outermost bone of the pinky toe"],[100400]],[100419,"Partial duplication of the middle phalanx of the 3rd toe",["Partial duplication of the middle bone of 3rd toe","Partial duplication of the middle phalanx of the third toe"],[100401]],[100420,"Partial duplication of the middle phalanx of the 4th toe",["Partial duplication of the middle bone of the 4th toe","Partial duplication of the middle phalanx of the fourth toe"],[100402]],[100421,"Partial duplication of the middle phalanx of the 5th toe",["Partial duplication of the middle bone of the little toe","Partial duplication of the middle bone of the pinkie toe","Partial duplication of the middle bone of the pinky toe","Partial duplication of the middle phalanx of the fifth toe"],[100403]],[100422,"Partial duplication of the proximal phalanx of the 3rd toe",["Partial duplication of the innermost bone of 3rd toe","Partial duplication of the proximal phalanx of the third toe"],[100404]],[100423,"Partial duplication of the proximal phalanx of the 4th toe",["Partial duplication of the innermost bone of 4th toe"],[100405]],[100424,"Partial duplication of the proximal phalanx of the 5th toe",["Partial duplication of the innermost bone of the little toe","Partial duplication of the innermost bone of the pinkie toe","Partial duplication of the innermost bone of the pinky toe","Partial duplication of the proximal phalanx of the fifth toe"],[100406]],[100425,"Broad middle phalanx of the 3rd toe",["Broad middle 3rd toe bone"],[10195,10360,10369]],[100426,"Broad middle phalanx of the 4th toe",["Broad middle 4th toe bone"],[10195,10372,10381]],[100427,"Broad middle phalanx of the 5th toe",["Broad middle bone of the little toe","Broad middle bone of the pinkie toe","Broad middle bone of the pinky toe"],[10195,10384,10393]],[100428,"Broad proximal phalanx of the 3rd toe",["Wide innermost bone of 3rd toe"],[10204,10360,10370]],[100429,"Broad proximal phalanx of the 4th toe",["Wide innermost bone of 4th toe"],[10204,10372,10382]],[100430,"Broad proximal phalanx of the 5th toe",["Broad innermost bone of the little toe","Broad innermost bone of the pinkie toe","Broad innermost bone of the pinky toe"],[10204,10384,10394]],[100431,"Broad distal phalanx of the 3rd toe",["Broad outermost bone of the 3rd toe","Wide outermost bone of the 3rd toe"],[10186,10360,10368]],[100432,"Broad distal phalanx of the 4th toe",["Broad outermost bone of the 4th toe","Wide outermost bone of the 4th toe"],[10186,10372,10380]],[100433,"Broad distal phalanx of the 5th toe",["Broad outermost bone of the 5th toe","Wide outermost bone of the little toe","Wide outermost bone of the pinkie toe","Wide outermost bone of the pinky toe"],[10186,10384,10392]],[100434,"Bullet-shaped middle phalanx of the 3rd toe",["Bullet-shaped middle bone of the 3rd toe"],[10361]],[100435,"Bullet-shaped middle phalanx of the 4th toe",["Bullet-shaped middle bone of the 4th toe"],[10373]],[100436,"Bullet-shaped middle phalanx of the 5th toe",["Bullet-shaped middle bone of the little toe","Bullet-shaped middle bone of the pinkie toe","Bullet-shaped middle bone of the pinky toe"],[10385]],[100437,"Bullet-shaped proximal phalanx of the 3rd toe",["Bullet-shaped proximal bone of the 3rd toe"],[10205,10361]],[100438,"Bullet-shaped proximal phalanx of the 4th toe",["Bullet-shaped proximal bone of the 4th toe"],[10205,10373]],[100439,"Bullet-shaped proximal phalanx of the 5th toe",["Bullet-shaped innermost bone of little toe","Bullet-shaped innermost bone of pinkie toe","Bullet-shaped innermost bone of pinky toe"],[10205,10385]],[100440,"Bullet-shaped distal phalanx of the 3rd toe",["Bullet-shaped outermost bone of the 3rd toe"],[10361]],[100441,"Bullet-shaped distal phalanx of the 4th toe",["Bullet-shaped outermost bone of the 4th toe"],[10373]],[100442,"Bullet-shaped distal phalanx of the 5th toe",["Bullet-shaped outermost bone of the little toe","Bullet-shaped outermost bone of the pinkie toe","Bullet-shaped outermost bone of the pinky toe"],[10385]],[100443,"Curved middle phalanx of the 3rd toe",["Curved middle bone of 3rd toe"],[10197,10362,10369]],[100444,"Curved middle phalanx of the 4th toe",["Curved middle bone of 4th toe"],[10197,10374,10381]],[100445,"Curved middle phalanx of the 5th toe",["Curved middle bone of little toe","Curved middle bone of pinkie toe","Curved middle bone of pinky toe"],[10197,10386,10393]],[100446,"Curved proximal phalanx of the 3rd toe",["Curved innermost bone of 3rd toe"],[10206,10362,10370]],[100447,"Curved proximal phalanx of the 4th toe",["Curved innermost bone of the 4th toe"],[10206,10374,10382]],[100448,"Curved proximal phalanx of the 5th toe",["Curved innermost little toe bone","Curved innermost pinkie toe bone","Curved innermost pinky toe bone"],[10206,10386,10394]],[100449,"Curved distal phalanx of the 3rd toe",["Curved outermost bone of the 3rd toe"],[10188,10362,10368]],[100450,"Curved distal phalanx of the 4th toe",["Curved outermost bone of the 4th toe"],[10188,10374,10380]],[100451,"Curved distal phalanx of the 5th toe",["Curved outermost bone of the little toe","Curved outermost bone of the pinkie toe","Curved outermost bone of the pinky toe"],[10188,10386,10392]],[100452,"Osteolytic defects of the middle phalanx of the 3rd toe",[],[10363]],[100453,"Osteolytic defects of the middle phalanx of the 4th toe",[],[10375]],[100454,"Osteolytic defects of the middle phalanx of the 5th toe",[],[10387]],[100455,"Osteolytic defects of the proximal phalanx of the 3rd toe",[],[10363]],[100456,"Osteolytic defects of the proximal phalanx of the 4th toe",[],[10375]],[100457,"Osteolytic defects of the proximal phalanx of the 5th toe",[],[10387]],[100458,"Osteolytic defects of the distal phalanx of the 3rd toe",["Osteolytic defects of the outermost bone of the 3rd toe"],[10363]],[100459,"Osteolytic defects of the distal phalanx of the 4th toe",["Osteolytic defects of the outermost bone of the 4th toe"],[10375]],[100460,"Osteolytic defects of the distal phalanx of the 5th toe",["Osteolytic defects of the outermost bone of the 5th toe"],[10387]],[100461,"Patchy sclerosis of the middle phalanx of the 3rd toe",["Uneven increase in bone density in the middle bone of the 3rd toe"],[10199,10364,100936]],[100462,"Patchy sclerosis of the middle phalanx of the 4th toe",["Uneven increase in bone density in middle bone of the 4th toe"],[10199,10376,100937]],[100463,"Patchy sclerosis of the middle phalanx of the 5th toe",["Uneven increase in bone density in the middle bone of the little toe","Uneven increase in bone density in the middle bone of the pinkie toe","Uneven increase in bone density in the middle bone of the pinky toe"],[10199,10388,100938]],[100464,"Patchy sclerosis of the proximal phalanx of the 3rd toe",["Uneven increase in bone density in the innermost bone of the 3rd toe"],[10208,10364,100932]],[100465,"Patchy sclerosis of the proximal phalanx of the 4th toe",["Uneven increase in bone density in the innermost bone of the 4th toe"],[10208,10376,100933]],[100466,"Patchy sclerosis of the proximal phalanx of the 5th toe",["Uneven increase in bone density in the innermost bone of the little toe","Uneven increase in bone density in the innermost bone of the pinkie toe","Uneven increase in bone density in the innermost bone of the pinky toe"],[10208,10388,100934]],[100467,"Patchy sclerosis of the distal phalanx of the 3rd toe",["Uneven increase in bone density in the outermost bone of the 3rd toe"],[10190,10364,100940]],[100468,"Patchy sclerosis of the distal phalanx of the 4th toe",["Uneven increase in bone density in the outermost bone of the 4th toe"],[10190,10376,100941]],[100469,"Patchy sclerosis of the distal phalanx of the 5th toe",["Uneven increase in bone density in the outermost little toe bone","Uneven increase in bone density in the outermost pinkie toe bone","Uneven increase in bone density in the outermost pinky toe bone"],[10190,10388,100942]],[100476,"DIstal 3rd toe symphalangism",["Fused outermost bone of 3rd toe"],[1859,10365]],[100477,"Distal 4th toe symphalangism",["Fused outermost bone of the 4th toe"],[1859,10377]],[100478,"Distal 5th toe symphalangism",["Fused outermost bones of the little toe","Fused outermost bones of the pinkie toe","Fused outermost bones of the pinky toe"],[1859,10389]],[100480,"Proximal 3rd toe symphalangism",["Fused innermost and middle bones of 3rd toe","Proximal symphalangism of 3rd toe","Symphalangism of the middle and proximal phalanges of the 3rd toe"],[10200,10365]],[100481,"Proximal 4th toe symphalangism",["Fused innermost and middle bones of 4th toe","Proximal symphalangism of 4th toe","Symphalangism of the middle and proximal phalanges of the 4th toe"],[10200,10377]],[100482,"Proximal 5th toe symphalangism",["Fused innermost and middle pinkie toe bones","Proximal symphalangism of 5th toe","Symphalangism of the middle and proximal phalanges of the 5th toe"],[10200,10389]],[100483,"Second ray metatarsophalangeal synostosis",["Fused innermost bone of 2nd toe with the 2nd long bone of foot"],[1440]],[100484,"Third ray metatarsophalangeal synostosis",["Fused innermost bones of third toe with 3rd long bone of foot"],[1440,10390]],[100485,"Fourth ray metatarsophalangeal synostosis",["Fused innermost bone of the 4th toe with 4th long bone of foot"],[1440]],[100486,"Fifth ray metatarsophalangeal synostosis",["Fused innermost pinky toe bone with the 5th long bone of foot"],[1440]],[100487,"Triangular shaped distal phalanx of the 5th toe",["Triangular shaped outermost bone of the little toe","Triangular shaped outermost bone of the pinkie toe","Triangular shaped outermost bone of the pinky toe"],[10390]],[100488,"First ray metatarsophalangeal synostosis",["Fusion of the innermost big toe bone with the 1st long bone of foot"],[1440,10073]],[100490,"Camptodactyly of finger",["Camptodactyly of hands","Camptodactyly of proximal interphalangeal joint","Contractures of the proximal interphalangeal joints of the fingers","Flexion contractures of proximal interphalangeal joints","Permanent flexion of the finger","Proximal interphalangeal finger joint contractures"],[1220,6261,12385]],[100491,"Abnormality of lower limb joint",["Abnormality of the joints of the lower limbs"],[1367,2814]],[100493,"Hypoammonemia",[],[4364]],[100494,"Abnormal mast cell morphology",["Abnormality of mast cells","Abnormality of mastocytes"],[1911]],[100495,"Mastocytosis",[],[100494]],[100496,"Abnormal circulating vitamin B3 concentration",["Abnormality of the vitamin B3 metabolism"],[4340]],[100497,"Decreased circulating vitamin B3 concentration",["Vitamin B3 deficiency","Decreased blood concentration of nicotinic acid or nicotinamide"],[100496]],[100498,"Deviation of toes",[],[1780]],[100499,"Tibial deviation of toes",["Medial deviation of toes"],[100498]],[100500,"Fibular deviation of toes",["Lateral deviation of toes"],[100498]],[100501,"Recurrent bronchiolitis",[],[11950]],[100502,"Decreased circulating vitamin B12 concentration",["Vitamin B12 deficiency"],[4341]],[100503,"Decreased circulating vitamin B1 concentration",["Low levels of vitamin B1","Reduced blood thiamine level","Vitamin B1 deficiency"],[100504]],[100504,"Decreased circulating vitamin B2 concentration",["Low levels of vitamin B2","Riboflavin deficiency","Vitamin B2 deficiency"],[4340]],[100505,"Decreased circulating vitamin B5 concentration",["Low levels of vitamin B5","Vitamin B5 deficiency"],[4340]],[100506,"Decreased circulating vitamin B8 concentration",["Low levels of vitamin B8","Vitamin B8 deficiency"],[4340]],[100507,"Decreased circulating folate concentration",["Decreased circulating vitamin B9 concentration","Folate deficiency","Reduced blood folate concentration","Vitamin B9 deficiency"],[40087]],[100508,"Abnormality of vitamin metabolism",[],[32245]],[100509,"Abnormal circulating vitamin C concentration",["Abnormality of vitamin C metabolism"],[20350]],[100510,"Decreased circulating vitamin C concentration",["Low levels of vitamin C","Vitamin C deficiency"],[100509]],[100511,"Abnormal circulating vitamin D concentration",["Abnormality of vitamin D metabolism"],[20350]],[100512,"Decreased circulating vitamin D concentration",["Deficient in vitamin D","Low levels of vitamin D","Vitamin D deficiency"],[100511]],[100513,"Decreased circulating vitamin E concentration",["Alpha-tocopherol deficiency","Low levels of vitamin E","Vitamin E deficiency"],[100514]],[100514,"Abnormal circulating vitamin E concentration",[],[20350]],[100515,"Pollakisuria",["Constant urination","Frequent urination"],[9]],[100516,"Neoplasm of the ureter",["Neoplasia of the ureters","ureter, cancer of"],[69,10786]],[100517,"Neoplasm of the urethra",["Neoplasia of the urethra"],[795,10786]],[100518,"Dysuria",["Painful or difficult urination","Dull burning sensation with urination"],[9]],[100519,"Anuria",["Absent urine output"],[11037]],[100520,"Oliguria",[],[11037]],[100521,"Neoplasm of the thymus",[],[777,11793]],[100522,"Thymoma",[],[100521]],[100523,"Liver abscess",["Hepatic abscess","Purulent hepatic collection"],[25615,410042]],[100524,"Limb duplication",["Dimelia"],[2813]],[100525,"Urachus fistula",[],[10478]],[100526,"Neoplasm of the lung",["Lung cancer","Lung tumor","Lung tumour"],[2088,100606]],[100527,"Neoplasia of the pleura",[],[2103,100606]],[100528,"Pleuropulmonary blastoma",[],[100527,100552]],[100529,"Abnormal circulating phosphate ion concentration",["Abnormal blood phosphate concentration","Abnormal phosphate ion level","Abnormality of phosphate homeostasis"],[20330]],[100530,"Abnormal circulating calcium-phosphate regulating hormone concentration",["Abnormal Ca-PHOS regulating hormone level","Abnormal Ca2+ PO4 regulating hormone level"],[3117,33331]],[100531,"Wind-swept deformity of the knees",[],[2857,2970]],[100532,"Scleritis",["Inflammation of the outer white part of the eye"],[591,100533]],[100533,"Inflammatory abnormality of the eye",["Ocular inflammation"],[12373,12649]],[100534,"Episcleritis",["Inflammation of the thin layer on top of the white part of eye"],[591,100533]],[100535,"Tibiofibular diastasis",[],[2991,2992]],[100536,"Abnormal fascia morphology",["Abnormality of the fascia"],[3549]],[100537,"Fasciitis",["Inflammation of the fascia"],[12649,100536]],[100538,"Abnormality of the supraorbital ridges",["Abnormality of the brow of the face","Deformity of the supraorbital margins","Deformity of the supraorbital ridges","Malformation of the supraorbital margins","Malformation of the supraorbital ridges"],[606]],[100539,"Periorbital edema",["Periorbital cellulitis","Periorbital oedema"],[282,606]],[100540,"Palpebral edema",["Edema of the eyelids","Eyelid edema","Eyelid oedema","Fullness of eyelids","Oedema of the eyelids","Palpebral oedema","Puffy eyelids","Puffy lids","Swelling of eyelids"],[492,100539]],[100541,"Femoral hernia",["Crural hernia"],[4299]],[100542,"Abnormal localization of kidney",["Abnormal localisation of kidneys"],[12210]],[100543,"Cognitive impairment",["Abnormality of cognition","Cognitive abnormality","Cognitive defects","Cognitive deficits","Intellectual impairment"],[11446]],[100544,"Neoplasm of the heart",["Cardiac neoplasm","Heart tumor","Heart tumour","Cardiac neoplasia"],[1627,11793]],[100545,"Arterial stenosis",["Narrowing of an artery"],[11004]],[100546,"Carotid artery stenosis",["Carotid stenosis","Narrowing of carotid artery"],[5344,100545]],[100547,"Abnormal forebrain morphology",["Abnormal shape of forebrain","Abnormality of forebrain morphology","Abnormality of the forebrain"],[12443]],[100548,"Exstrophy",[],[4298]],[100550,"Tendon rupture",["Rupture of tendons","Ruptured tendon","Tendon/muscle rupture"],[100261]],[100551,"Neoplasm of the trachea",["Tracheal neoplasm"],[2778,100552]],[100552,"Neoplasm of the tracheobronchial system",[],[5607,100526]],[100553,"Hemihypertrophy of lower limb",["Overgrowth of one leg"],[1528,10496,100559]],[100554,"Hemihypertrophy of upper limb",["Overgrowth of one arm"],[1528,10484,100560]],[100555,"Asymmetric growth",["Uneven or disproportionate growth of one body part compared to another"],[1507]],[100556,"Hemiatrophy",["Asymmetric limb shortening","Hemiatrophy of the body"],[9826,100555]],[100557,"Hemiatrophy of lower limb",["Asymmetric lower limb shortening"],[100556,100559]],[100558,"Hemiatrophy of upper limb",["Asymmetric upper limb shortening","Hemihypotrophy of upper limb"],[100556,100560]],[100559,"Lower limb asymmetry",["Left and right leg differ in length or width","Leg length discrepancy"],[2814,100555]],[100560,"Upper limb asymmetry",["Unequal size of arms"],[2817,100555]],[100561,"Spinal cord lesion",[],[2143]],[100562,"Diplomyelia",["Duplication of spinal cord"],[100561]],[100563,"Diastomatomyelia",[],[100561]],[100564,"Triplomyelia",["Triplication of spinal cord"],[100561]],[100565,"Hydromyelia",[],[100561]],[100566,"Amyelia",["Absent spinal cord"],[100561]],[100568,"Neoplasm of the endocrine system",["Endocrine neoplasia"],[818,11793]],[100569,"Abnormally ossified vertebrae",["Abnormal bone maturation of vertebra","Abnormal vertebral ossification","Abnormality of ossification/mineralisation of vertebrae"],[3336,3468]],[100570,"Carcinoid tumor",["Carcinoid","Carcinoid tumour","Carcinoid tumors","Carcinoid tumours"],[100634]],[100571,"Cardiac diverticulum",["Ventricular diverticulum"],[1713]],[100572,"Fibrous cardiac diverticulum",["Congenital ventricular aneurysm"],[6698,100571]],[100573,"Muscular cardiac diverticulum",[],[100571]],[100574,"Biliary tract neoplasm",["Neoplasia of the biliary tract"],[7378,12440]],[100575,"Neoplasm of the gallbladder",["Neoplasia of the gallbladder"],[12437,100574]],[100576,"Amaurosis fugax",[],[504]],[100577,"Urinary bladder inflammation",["Cystitis of the urinary bladder"],[12649,25487]],[100578,"Lipoatrophy",["Atrophy of fat","Loss of fat tissue in localised area","Loss of fat tissue in localized area"],[9125]],[100579,"Mucosal telangiectasiae",[],[1009]],[100580,"Barrett esophagus",["Barret syndrome","Barrett oesophagus","Barrett's esophagus","Barrett's oesophagus","Endobrachyesophagus"],[100751]],[100581,"Dilatation of renal calices",["Caliceal dilatation","Caliectasis","Megacalicosis"],[11130]],[100582,"Nasal polyposis",["Nasal polyps","Polyposis nasi","Polyps of nose"],[433]],[100583,"Corneal perforation",["Iridocele"],[481]],[100584,"Endocarditis",[],[4306,12649]],[100585,"Telangiectasia of the skin",["Teleangiectasia of the skin"],[1009]],[100586,"Sterile pyuria",["Aseptic leukocyturia"],[12085]],[100587,"Abnormal preputium morphology",["Abnormality of the preputium"],[36]],[100588,"Paraphimosis",[],[100587]],[100589,"Urogenital fistula",[],[119]],[100590,"Rectal fistula",[],[2034,100589,100819]],[100592,"Peritoneal abscess",[],[2585,25615]],[100593,"Calcification of cartilage",[],[2763,10766]],[100594,"Esophageal web",[],[2031]],[100595,"Camptocormia",[],[10674]],[100596,"Absent nares",["Abouphalia","Aplasia of the nares","Missing nostrils","Aplasia/Hypoplasia of the nares"],[5288]],[100598,"Pulmonary edema",["Excess fluid in lungs","Lung edema","Lung oedema","Wet lung"],[969,2088]],[100599,"Bifid penis",["Diphallia","Penile duplication"],[36]],[100600,"Penoscrotal transposition",["Prepenile scrotum"],[36,45]],[100601,"Eclampsia",[],[100603]],[100602,"Preeclampsia",["Pre-eclampsia"],[100603]],[100603,"Toxemia of pregnancy",["Hypertensive disorder of pregnancy","Toxaemia of pregnancy"],[2686]],[100604,"Neoplasm of the lip",["Lip tumor","Lip tumour","Neoplasia of the lip","Tumor of the lip","Tumour of the lip"],[159,11793]],[100605,"Neoplasm of the larynx",[],[1600,100606]],[100606,"Neoplasm of the respiratory system",["Respiratory system tumor","Respiratory system tumour"],[2086,11793]],[100607,"Dysmenorrhea",["Painful menstruation"],[140,12531]],[100608,"Metrorrhagia",["Abnormal uterus bleeding","Intermenstrual bleeding","Menstrual spotting"],[140]],[100610,"Maternal hyperphenylalaninemia",["High blood phenylalanine level in mother"],[2686]],[100611,"Multiple glomerular cysts",["Glomerulocystic kidney disease"],[95]],[100612,"Odontogenic neoplasm",["Odontogenic tumor","Odontogenic tumour"],[164,100649]],[100613,"Death in early adulthood",[],[33763]],[100614,"Myositis",["Muscle inflammation"],[11805,12649]],[100615,"Ovarian neoplasm",["Ovarian cancer","Neoplasm of the ovaries","Neoplasm of the ovary","Ovarian tumor","Ovarian tumour","Ovarian neoplasia"],[137,10785]],[100616,"Testicular teratoma",[],[9792,10788]],[100617,"Testicular seminoma",[],[10788,100620]],[100618,"Leydig cell neoplasia",[],[10788,10789]],[100619,"Sertoli cell neoplasm",["Sertoli cell neoplasia"],[10788]],[100620,"Germinoma",[],[100728]],[100621,"Dysgerminoma",[],[100615,100620]],[100622,"Maternal seizure",["Maternal seizures"],[2686]],[100623,"Abnormal corpus cavernosum morphology",["Abnormality of corpus cavernosum"],[36]],[100624,"Corpus cavernosum sclerosis",[],[100623]],[100625,"Enlarged thorax",["Wide rib cage","Wide thorax"],[1547]],[100626,"Chronic hepatic failure",["Chronic liver failure"],[1399]],[100627,"Displacement of the urethral meatus",["Displacement of the external urethral orifice","Displacement of the male external urethral orifice"],[795,32076]],[100628,"Esophageal diverticulum",["Esophageal pouch"],[2031]],[100629,"Midline facial cleft",[],[2006]],[100630,"Neoplasia of the nasopharynx",["Nasopharyngeal neoplasm","Neoplasm of the nasopharynx","Tumor of the nasopharynx","Tumour of the nasopharynx"],[1739,100606]],[100631,"Neoplasm of the adrenal gland",["Adrenal neoplasia"],[11732,100568]],[100632,"Pulmonary sequestration",["Bronchopulmonary sequestration","Cystic lung lesion"],[4000059]],[100633,"Esophagitis",["Inflammation of the esophagus","Inflammation of the oesophagus","Oesophagitis"],[2031,4386]],[100634,"Neuroendocrine neoplasm",["Neuroendocrine neoplasia"],[100007,100568]],[100635,"Carotid paraganglioma",[],[2864,5344]],[100636,"Pulmonary paraglioma",[],[2668,100526]],[100638,"Neoplasm of the pharynx",["Neoplasia of the pharynx","Pharyngeal neoplasm","Tumor of the pharynx","Tumour of the pharynx"],[100630]],[100639,"Erectile dysfunction",["Abnormal erection","Erectile abnormalities"],[40307]],[100640,"Laryngeal cyst",[],[25423]],[100641,"Neoplasm of the adrenal cortex",["Cortical adrenal neoplasia"],[100631]],[100642,"Neoplasm of the adrenal medulla",["Medullar adrenal neoplasia"],[100631]],[100643,"Abnormality of nail color",["Nail dyschromia"],[1597]],[100644,"Melanonychia",["Dark discoloration of nail"],[100643]],[100645,"Cystocele",["Bladder hernia","Bladder prolapse","Dropped bladder","Prolapsed bladder"],[25487,31607]],[100646,"Thyroiditis",["Thyroid gland inflammation"],[11772,12649]],[100647,"Graves disease",["Morbus Basedow"],[11784]],[100648,"Neoplasm of the tongue",[],[157,100649]],[100649,"Neoplasm of the oral cavity",["Lesion of oral cavity","Mouth neoplasm","Mouth tumor","Mouth tumour","Neoplasm of the mouth","Tumor of oral cavity","Tumour of oral cavity"],[163,34930]],[100650,"Vaginal neoplasm",["Vaginal tumor","Vaginal tumour","Vaginal neoplasia"],[142,33020]],[100651,"Type I diabetes mellitus",["Diabetes mellitus Type I","Juvenile diabetes mellitus","Type 1 diabetes","Type I diabetes","Insulin-dependent diabetes mellitus"],[819]],[100653,"Optic neuritis",[],[587,33429]],[100654,"Retrobulbar optic neuritis",["Retrobulbar neuritis"],[100653]],[100656,"Thoracoabdominal wall defect",["Thoracoabdominal schisis"],[765,10866]],[100657,"Thoracoabdominal eventration",["Celosomia","Kelosomia"],[100656]],[100658,"Cellulitis",["Bacterial infection of skin","Skin infection","Skin infections"],[3549]],[100659,"Abnormal cerebral vascular morphology",["Abnormality of the cerebral blood vessels","Abnormality of the cerebral vasculature"],[12443,25015]],[100660,"Dyskinesia",["Disorder of involuntary muscle movements","Dyskinesis","Dyskinesias"],[100022]],[100661,"Trigeminal neuralgia",["Tic douloureux"],[31911,33345]],[100662,"Chondritis",["Cartilage inflammation"],[2763,12649]],[100663,"Synotia",[],[357]],[100665,"Angioedema",["Angioneurotic edema","Angioneurotic oedema","Angiooedema","Quincke edema","Quincke oedema"],[969,11276]],[100668,"Intestinal duplication",["Bowel duplication","Gut duplication"],[2242,11140]],[100669,"Abnormal pigmentation of the oral mucosa",["Abnormal color of the oral mucosa","Abnormal colour of the oral mucosa","Abnormal pigmentation of oral cavity","Abnormal pigmentation of oral mucous membrane","Abnormal pigmentation of the oral mucosa/gingivae"],[11830]],[100670,"Coarse metaphyseal trabecularization",["Coarse trabeculation at metaphyses","Rough bone trabeculation","Rough trabeculation of bone"],[5089,100671]],[100671,"Abnormal trabecular bone morphology",["Abnormal shape of spongy bone","Abnormality of bone trabeculation"],[3330]],[100673,"Vaginal hydrocele",[],[34]],[100674,"Vaginal hematocele",[],[45]],[100675,"Vaginal pyocele",[],[45]],[100676,"Vaginal lymphocele",[],[45]],[100677,"Vulval varicose vein",[],[55,2619]],[100678,"Premature skin wrinkling",["Wrinkled skin"],[7495]],[100679,"Lack of skin elasticity",["Tight skin"],[10647]],[100681,"Esophageal duplication",[],[2031,11140]],[100682,"Tracheal atresia",[],[2777]],[100684,"Salivary gland neoplasm",["Salivary gland neoplasia","Tumor of salivary gland","Tumour of salivary gland","Cancer of salivary gland"],[10286,100649]],[100685,"Abnormal Sharpey fiber morphology",["Abnormal Sharpey fibre morphology","Abnormality of Sharpey fibers","Abnormality of Sharpey fibres","Enthesis abnormality"],[3549]],[100686,"Enthesitis",["Inflammation of sharpey fibers","Inflammation of sharpey fibres"],[100685]],[100687,"Polyotia",[],[377]],[100689,"Decreased corneal thickness",["Thin cornea"],[11486]],[100690,"Mosaic central corneal dystrophy",[],[7836,7881]],[100691,"Abnormality of the curvature of the cornea",[],[481]],[100692,"Increased corneal curvature",["Steep corneal curvature"],[100691]],[100693,"Iridodonesis",[],[525]],[100694,"Tibial torsion",[],[2992]],[100695,"Lipedema",[],[9126]],[100697,"Malignant peripheral nerve sheath tumor",["Malignant peripheral nerve sheath tumour","Malignant schwannoma","Neurofibrosarcoma"],[30448]],[100698,"Subcutaneous neurofibroma",[],[34761]],[100699,"Scarring",["Scar tissue"],[3549]],[100700,"Abnormal arachnoid mater morphology",["Abnormality of the arachnoid mater","Abnormality of the arachnoidea"],[10651]],[100701,"Abnormal pia mater",["Abnormality of the pia mater"],[10651]],[100702,"Arachnoid cyst",["Fluid-filled sac located in membrane surrounding brain or spinal cord","Arachnoid cysts"],[100700]],[100703,"Tongue thrusting",[],[5200017]],[100704,"Cerebral visual impairment",["CVI","Cortical blindness","Cortical visual impairment","Cortical/cerebral visual impairment"],[505]],[100705,"Abnormal glial cell morphology",["Abnormality of the glial cells"],[12639]],[100706,"Abnormal oligodendroglia morphology",["Abnormality of the oligodendroglia"],[100705]],[100707,"Abnormal astrocyte morphology",["Abnormality of the astrocytes"],[100705]],[100708,"Abnormal microglia morphology",["Abnormality of the microglia"],[100705]],[100709,"Reduction of oligodendroglia",[],[100706]],[100710,"Impulsivity",["Impulsive"],[734]],[100711,"Abnormal thoracic spine morphology",["Abnormality of the thoracic spine"],[765,925]],[100712,"Abnormal lumbar spine morphology",["Abnormality of the lumbar spine"],[925]],[100716,"Self-injurious behavior",["Autoagression","Self injury","Self-harm","Self-injurious behaviors","Self-injurious behaviours"],[5200241]],[100717,"Abnormal cementum morphology",["Abnormality of the cementum"],[11061,3000050]],[100718,"Uterine rupture",[],[31105]],[100719,"Lens coloboma",[],[589,8063]],[100720,"Hypoplasia of the ear cartilage",["Underdeveloped ear cartilage"],[8772]],[100721,"Mediastinal lymphadenopathy",["Swollen lymph nodes in center of chest","Swollen lymph nodes in centre of chest"],[2716,45026]],[100723,"Gastrointestinal stroma tumor",["GI stroma tumor","GI stroma tumour","GIST","Gastrointestinal stroma tumour","Gastrointestinal stromal tumor","Gastrointestinal stromal tumour","Gastrointestinal stromal tumors","Gastrointestinal stromal tumours"],[7378]],[100724,"Hypercoagulability",["Blood hyperviscosity","Thrombophilia"],[1928]],[100725,"Lichenification",[],[11121]],[100726,"Kaposi's sarcoma",[],[8069]],[100727,"Histiocytosis",[],[4311]],[100728,"Germ cell neoplasia",[],[10785]],[100729,"Large face",["Big face","Large facies"],[1999]],[100730,"Bronchogenic cyst",[],[32445]],[100731,"Transverse facial cleft",["Lateral facial cleft"],[2006,11338]],[100732,"Pancreatic fibrosis",[],[12090]],[100733,"Neoplasm of the parathyroid gland",["Parathyroid neoplasia"],[11766,100568]],[100734,"Abnormal vertebral epiphysis morphology",["Abnormal shape of the end part of the vertebra bone","Abnormality of the vertebral epiphyses","Abnormality of vertebral epiphysis morphology"],[3468,5930]],[100735,"Hypertensive crisis",[],[822]],[100736,"Abnormal soft palate morphology",["Abnormality of the muscular palate","Abnormality of the soft palate","Abnormality of the velum","Abnormality of the velum palatinum"],[174]],[100737,"Abnormal hard palate morphology",["Abnormality of the secondary palate","Abnormality of the hard palate"],[174]],[100738,"Abnormal eating behavior",["Abnormal eating behaviour"],[40202]],[100739,"Bulimia",["Binge and purge"],[100738]],[100742,"Vascular neoplasm",["Blood vessel tumor","Blood vessel tumour"],[2597,11793]],[100743,"Neoplasm of the rectum",["Rectal tumor","Rectal tumour"],[2034,100834]],[100744,"Abnormality of the humeroradial joint",[],[20300]],[100745,"Abnormality of the humeroulnar joint",[],[20300]],[100746,"Macrodactyly of finger",["Macrodactyly of hands"],[1167,4099]],[100747,"Macrodactyly of toe",["Foot macrodactyly"],[1780,4099]],[100748,"Muscular edema",["Muscular oedema"],[969,11805]],[100749,"Chest pain",["Thoracic pain","Chest discomfort"],[12531]],[100750,"Atelectasis",["Partial or complete collapse of part or entire lung","Pulmonary atelectasis"],[31983]],[100751,"Esophageal neoplasm",["Esophageal tumor","Esophageal tumour"],[2031,7378,12288]],[100752,"Abnormal liver lobulation",["Anomalous liver lobulation","Hepatic anomalous lobulation","Liver lobation abnormal"],[30146]],[100753,"Schizophrenia",[],[25783]],[100754,"Mania",["Hypomania","Hypomanic","Manic"],[100851,5200263]],[100755,"Abnormality of salivation",["Abnormal spit"],[31815]],[100757,"Pancreatoblastoma",[],[2894]],[100758,"Gangrene",["Death of body tissue due to lack of blood flow or infection"],[25142]],[100759,"Clubbing of fingers",["Clubbed fingers","Clubbing (hands)","Finger clubbing"],[1211,1217]],[100760,"Clubbing of toes",["Clubbed toes"],[1217,10161]],[100761,"Visceral angiomatosis",[],[7461]],[100762,"Hemobilia",["Haemobilia"],[12439]],[100763,"Abnormality of the lymphatic system",["Lymphatic disease"],[2597,2715]],[100764,"Lymphangioma",[],[100763]],[100765,"Abnormality of the tonsils",[],[100763]],[100766,"Abnormal lymphatic vessel morphology",["Abnormality of the lymphatic vessels"],[25015,100763]],[100767,"Abnormal placenta morphology",["Abnormality of the placenta","Placental issue"],[1194]],[100768,"Choriocarcinoma",[],[31502,100767]],[100769,"Synovitis",[],[5262]],[100770,"Hyperperistalsis",["Stomach churning"],[30914]],[100771,"Hypoperistalsis",["Intestinal hypoperistalsis"],[30914]],[100773,"Cartilage destruction",[],[2763]],[100774,"Hyperostosis",["Bone Hypertrophy","Bone overgrowth"],[11842]],[100775,"Dural ectasia",[],[10303]],[100776,"Recurrent pharyngitis",["Chronic pharyngitis","Persistent pharyngitis","Pharyngitis, recurrent","Recurrent sore throat"],[2788,20343]],[100777,"Exostoses",["Formation of new noncancerous bone on top of existing bone"],[10622]],[100778,"Cryoglobulinemia",["Cryoprecipitable immune complexes"],[5368]],[100779,"Urogenital sinus anomaly",[],[142,795]],[100780,"Conjunctival hamartoma",[],[502,10568]],[100781,"Abnormal sacroiliac joint morphology",["Abnormality of the sacroiliac joint"],[1367,2867,5107]],[100783,"Breast aplasia",["Absent breast","Congenital absence of breast","Mammary gland aplasia"],[10311]],[100784,"Peripheral arteriovenous fistula",[],[4947]],[100785,"Insomnia",["Difficulty staying or falling asleep","Inability to sleep"],[2360]],[100787,"Prostate neoplasm",[],[8775,33019]],[100788,"Fused lips",["Adhesion of upper and lower lips","Fusion of upper and lower lips"],[159]],[100789,"Torus palatinus",["Maxillary torus","Palatal tori","Palatal torus","Palate exostoses","Prominent midpalatal ridge"],[100737]],[100790,"Hernia",["Hernias"],[3549]],[100792,"Acantholysis",["Nikolsky's sign"],[11124]],[100795,"Abnormally straight spine",[],[10674]],[100796,"Orchitis",["Inflammation of testicles"],[35]],[100797,"Toenail dysplasia",["Abnormal toenail development","Dysplastic toenails"],[2164,8388]],[100798,"Fingernail dysplasia",["Abnormal fingernail development","Dysplastic fingernails"],[1231,2164]],[100799,"Neoplasm of the middle ear",["Middle ear tumor","Middle ear tumour","Neoplasia of the middle ear"],[370,12780]],[100800,"Aplasia/Hypoplasia of the pancreas",["Absent/small pancreas","Absent/underdeveloped pancreas"],[12094]],[100801,"Pancreatic aplasia",["Absent pancreas"],[100800]],[100802,"Malposition of the stomach",["Abnormal stomach location","Gastric ectopia","Gastric malposition"],[2577]],[100803,"Abnormal periungual morphology",["Abnormality of the periungual region"],[1597,11356]],[100804,"Ungual fibroma",["Koenen tumor","Koenen tumour","Koenen's tumor","Koenen's tumour","Parungual fibromas","Periungual fibroma"],[10614,100803,100826]],[100806,"Sepsis",["Infection in blood stream"],[32101]],[100807,"Long fingers",[],[1167]],[100808,"Gastric diverticulum",["Stomach diverticulum"],[2577]],[100809,"Scalp tenderness",["Scalp pain","Scalp hypersensitivity","Allodynia of scalp"],[1965]],[100810,"Pointed helix",["Pointed ear","Elfin ear","Spock ear","Spock's ear","Vulcan ear"],[11039]],[100811,"Aplasia/Hypoplasia of the colon",["Absent/small colon","Absent/underdeveloped colon"],[2250,5245]],[100812,"Halitosis",["Bad breath","Foetor ex ore"],[25142,31815]],[100813,"Testicular torsion",["Spermatic cord torsion"],[35]],[100814,"Blue nevus",["Congenital dermal melanocytosis"],[3764]],[100816,"Lip hyperpigmentation",["Darkening of skin of the lips","Hyperpigmentation of lip vermillion","Increased pigmentation on the lips"],[7400,32453]],[100817,"Renovascular hypertension",["Hypertension due to renal artery hyperplasia"],[822,12211]],[100818,"Long thorax",["Long rib cage"],[100625]],[100819,"Intestinal fistula",[],[2242]],[100820,"Glomerulopathy",["Diseased glomeruli"],[95]],[100821,"Urethrocele",[],[795,31607]],[100822,"Rectocele",[],[2035,31607]],[100823,"Genital hernia",[],[100790]],[100825,"Cheilitis",["Inflammation of the lips","Red and sore lips"],[159]],[100826,"Neoplasm of the nail",["Nail tumor","Nail tumour"],[1597,11793]],[100827,"Increased total lymphocyte count",["High lymphocyte count","Lymphocytosis"],[40088]],[100828,"Increased total T cell count",["CD3+ T-cell lymphocytosis","Increase in T cell count","Increased absolute T cell count","T cell lymphocytosis"],[5210412]],[100829,"Galactorrhea",["Galactorrhoea","Spontaneous milk flow from breast"],[31094]],[100830,"Round ear",[],[377]],[100831,"Abnormal circulating vitamin K concentration",["Abnormality of vitamin K metabolism"],[20350]],[100832,"Vitreous floaters",["Eye floaters","Flitting flies","Mouches volantes","Myodeopsia","Myodesopsia","Spots in front of eyes","Vitreous condensations","Vitreous debris","Vitreous opacities","Vitreous veils"],[4327,6001103]],[100833,"Neoplasm of the small intestine",["Small intestine tumor","Small intestine tumour"],[7378]],[100834,"Neoplasm of the large intestine",["Large intestine tumor","Large intestine tumour"],[2250,7378]],[100835,"Benign neoplasm of the central nervous system",["Benign neoplasm of the CNS"],[100006]],[100836,"Malignant neoplasm of the central nervous system",["Malignant neoplasm of the CNS"],[100006]],[100837,"Atrophodermia vermiculata",["Vermiculata atrophoderma"],[987,11799]],[100838,"Recurrent cutaneous abscess formation",[],[2722,5406,31292]],[100839,"Hepatic agenesis",["Failed liver development","Liver agenesis"],[34181]],[100840,"Aplasia/Hypoplasia of the eyebrow",["Sparse or absent eyebrows","Sparse to absent eyebrows","Sparse/absent eyebrows"],[534]],[100841,"Microgastria",[],[2577]],[100842,"Septo-optic dysplasia",["De Morsier syndrome"],[609,1331]],[100844,"Pancreatic fistula",[],[12090]],[100845,"Anaphylactic shock",["Anaphylactic reaction","Anaphylactoid-type reaction","Anaphylaxis"],[100326]],[100847,"Palmoplantar pustulosis",["Palmoplantar pustules","Pustulosis of palms and soles","Pustulosis palmaris et plantaris"],[11356,200039]],[100848,"Neoplasm of the male external genitalia",["Neoplasia of the male external genitalia"],[32,33019]],[100849,"Neoplasm of the scrotum",["Neoplasia of the scrotum","Scrotum tumor","Scrotum tumour"],[45,100848]],[100850,"Neoplasm of the penis",["Neoplasia of the penis","Penis tumor","Penis tumour"],[36,100848]],[100851,"Abnormal emotional state",["Affective dysregulation","Emotional dysregulation","Mood disturbance","Psychological distress"],[25766]],[100852,"Abnormal fear-induced behavior",["Abnormal fear/anxiety-related behavior","Abnormal fear/anxiety-related behaviour"],[5200241]],[100853,"Hypoplastic areola",["Hypoplastic areolae"],[32314]],[100854,"Aplasia of the musculature",["Absent musculature"],[1460]],[100855,"Triceps hypoplasia",["Small triceps","Underdeveloped triceps"],[9784,30239]],[100856,"Poorly ossified vertebrae",[],[4599]],[100857,"Flat sella turcica",[],[2681]],[100858,"Dilatation of celiac artery",["Dilatation of coeliac artery","Celiac artery aneurysm","Coeliac artery aneurysm"],[2636]],[100859,"Dilatation of superior mesenteric artery",["Superior mesenteric artery aneurysm"],[11934]],[100860,"Dilatation of Inferior mesenteric artery",["Inferior mesenteric artery aneurysm"],[11934]],[100861,"Sclerotic vertebral body",["Vertebral body sclerosis"],[3468]],[100862,"Aplasia of the femoral head",["Absent femoral head"],[9108]],[100863,"Aplasia of the femoral neck",["Absent neck of thighbone"],[9108]],[100864,"Short femoral neck",["Hypoplasia of the femoral neck","Hypoplastic femoral neck","Short femoral necks","Short neck of thighbone"],[3367,9108]],[100865,"Broad ischia",[],[3174]],[100866,"Short iliac bones",["Short pelvis bones"],[946]],[100867,"Duodenal stenosis",["Duodenal stenosis/atresia"],[2246,12848]],[100869,"Palmar telangiectasia",["Telangiectases of palms and soles","Teleangiectases of palms"],[40211,100585]],[100870,"Plantar telangiectasia",["Plantar teleangiectasia","Telangiectases of soles","Teleangiectases of soles"],[100585,100872]],[100871,"Abnormal palm morphology",["Abnormality of the palm"],[1155]],[100872,"Abnormality of the plantar skin of foot",["Minor feet anomalies"],[1760,11356]],[100874,"Thick hair",["Increased follicular density","Increased hair density"],[11362]],[100875,"Hemimacroglossia",["Hemiglossal hyperplasia","Hyperplasia of half of the tongue","Hemiglossal hypertrophy","Hypertrophy of half of the tongue","Increased size of half of the tongue","Large half of tongue"],[158]],[100876,"Infra-orbital crease",["Crease in skin under the eye","Groove in skin under the eye","Infraorbital crease","Infraorbital creases","Underorbital skin creases"],[606]],[100877,"Renal diverticulum",["Caliceal diverticulum","Pelvic diverticulum","Renal pelvic diverticulum"],[107,4742]],[100878,"Enlarged uterus",[],[31105]],[100879,"Enlarged ovaries",[],[31065]],[100880,"Nephrogenic rest",[],[12210]],[100881,"Congenital mesoblastic nephroma",[],[3549,11794]],[100882,"Fibrous hamartoma",["Fibrous hamartoma of infancy"],[10566]],[100883,"Chorangioma",["Placental hamartoma"],[10566,100767]],[100884,"Compensatory scoliosis",[],[2650]],[100885,"Lateral venous anomaly",["Klippel-Trenaunay vein","Lateral marginal vein of Servelle","Vein of Servelle"],[1015]],[100886,"Abnormality of globe location",["Abnormality of eyeball location","Abnormality of eyeball position","Abnormality of globe position"],[12372]],[100887,"Abnormality of globe size",["Abnormality of eyeball size","Eye size difference"],[12372]],[100888,"Interdigital loops",[],[7477]],[100889,"Abnormal ductus choledochus morphology",["Abnormality of the common bile duct","Abnormality of the ductus choledochus"],[12440]],[100890,"Cyst of the ductus choledochus",["Choledochal cyst"],[100889]],[100891,"Bifid xiphoid process",["Bifid xiphisternum"],[100892]],[100892,"Abnormality of the xiphoid process",[],[766]],[100893,"Prominent xiphoid process",["Prominent xiphisternum"],[100892]],[100894,"Broad xiphoid process",["Broad xiphisternum"],[100892]],[100896,"Rectal polyposis",["Multiple rectal polyps","Rectal polyps"],[30255,100743]],[100898,"Connective tissue nevi",[],[3549,3764]],[100899,"Sclerosis of finger phalanx",["Increased bone density in the finger bone","Sclerosis of the phalanges of the hand"],[4054,5918]],[100900,"Sclerosis of the distal phalanx of the 2nd finger",["Increased bone density in the outermost bone of the index finger"],[100915,100918]],[100901,"Sclerosis of the distal phalanx of the 3rd finger",["Increased bone density in the outermost bone of the middle finger"],[100915,100919]],[100902,"Sclerosis of the distal phalanx of the 4th finger",["Increased bone density in the outermost bone of the ring finger"],[100915,100920]],[100903,"Sclerosis of the distal phalanx of the 5th finger",["Increased bone density in the outermost little finger bone","Increased bone density in the outermost pinkie finger bone","Increased bone density in the outermost pinky finger bone"],[100915,100921]],[100904,"Sclerosis of the middle phalanx of the 2nd finger",["Increased bone density in the middle bone of the index finger"],[100916,100918]],[100905,"Sclerosis of the middle phalanx of the 3rd finger",["Increased bone density in the middle bone of the middle finger"],[100916,100919]],[100906,"Sclerosis of the middle phalanx of the 4th finger",["Increased bone density in the middle bone of the ring finger"],[100916,100920]],[100907,"Sclerosis of the middle phalanx of the 5th finger",["Increased bone density in the middle bone of the little finger","Increased bone density in the middle bone of the pinkie finger","Increased bone density in the middle bone of the pinky finger"],[100916,100921]],[100908,"Sclerosis of the proximal phalanx of the 2nd finger",["Increased bone density in the innermost bone of the index finger"],[100917,100918]],[100909,"Sclerosis of the proximal phalanx of the 3rd finger",["Increased bone density in innermost bone of the middle finger"],[100917,100919]],[100910,"Sclerosis of the proximal phalanx of the 4th finger",["Increased bone density in the innermost bone of the ring finger"],[100917,100920]],[100911,"Sclerosis of the proximal phalanx of the 5th finger",["Increased bone density in innermost little finger bone","Increased bone density in innermost pinkie finger bone","Increased bone density in innermost pinky finger bone"],[100917,100921]],[100912,"Sclerosis of the distal phalanx of the thumb",["Increased bone density in the outermost bone of the thumb"],[100915,100922]],[100913,"Sclerosis of the proximal phalanx of the thumb",["Increased bone density in the innermost bone of the thumb"],[100916,100922]],[100914,"Sclerosis of the 1st metacarpal",["Increased bone density in 1st long bone of hand"],[100917]],[100915,"Sclerosis of distal phalanx of finger",["Increased bone density in outermost finger bone","Sclerosis of the distal phalanges of the hand"],[9832,100899]],[100916,"Sclerosis of middle phalanx of finger",["Increased bone density in middle finger bone of hand","Sclerosis of the middle phalanges of the hand"],[9833,100899]],[100917,"Sclerosis of proximal phalanx of finger",["Increased bone density in innermost finger bone","Sclerosis of the proximal phalanges of the hand"],[9834,100899]],[100918,"Sclerosis of 2nd finger phalanx",["Increased bone density in 2nd finger bone","Sclerosis of the phalanges of the 2nd finger"],[9541,100899]],[100919,"Sclerosis of 3rd finger phalanx",["Increased bone density in middle finger bone","Sclerosis of the phalanges of the 3rd finger"],[9316,100899]],[100920,"Sclerosis of 4th finger phalanx",["Increased bone density in ring finger bone","Sclerosis of the phalanges of the 4th finger"],[9172,100899]],[100921,"Sclerosis of 5th finger phalanx",["Increased bone density in little finger bone","Increased bone density in pinkie finger bone","Increased bone density in pinky finger bone","Sclerosis of the phalanges of the 5th finger"],[4213,100899]],[100922,"Sclerosis of thumb phalanx",["Increased bone density in thumb bone","Sclerosis of the phalanges of the thumb"],[9602,100899]],[100923,"Clavicular sclerosis",["Increased bone density in collarbone","Osteosclerosis of the clavicle","Osteosclerosis of the clavicles"],[889,11001]],[100924,"Sclerosis of toe phalanx",["Increased bone density in the toe bone","Sclerosis of the phalanges of the toes"],[10161,100925]],[100925,"Sclerosis of foot bone",["Increased bone density in foot bone","Sclerosis of bones of the feet"],[11001]],[100926,"Sclerosis of 2nd toe phalanx",["Increased bone density in 2nd toe bone","Sclerosis of the phalanges of the 2nd toe"],[100924]],[100927,"Sclerosis of 3rd toe phalanx",["Increased bone density in 3rd toe bone","Sclerosis of the phalanges of the 3rd toe"],[100924]],[100928,"Sclerosis of 4th toe phalanx",["Increased bone density in 4th toe bone","Sclerosis of the phalanges of the 4th toe"],[100924]],[100929,"Sclerosis of 5th toe phalanx",["Increased bone density in little toe bone","Increased bone density in pinkie toe bone","Increased bone density in pinky toe bone","Sclerosis of the phalanges of the 5th toe"],[100924]],[100930,"Sclerosis of hallux phalanx",["Increased bone density in big toe bone","Sclerosis of the phalanges of the hallux"],[100924]],[100931,"Sclerosis of the proximal phalanx of the 2nd toe",["Increased bone density in the innermost bone of the 2nd toe"],[100926,100946]],[100932,"Sclerosis of the proximal phalanx of the 3rd toe",["Increased bone density in the innermost bone of the 3rd toe"],[100927,100946]],[100933,"Sclerosis of the proximal phalanx of the 4th toe",["Increased bone density in the innermost bone of the 4th toe"],[100928,100946]],[100934,"Sclerosis of the proximal phalanx of the 5th toe",["Increased bone density in the innermost bone of the little toe","Increased bone density in the innermost bone of the pinkie toe","Increased bone density in the innermost bone of the pinky toe"],[100929,100946]],[100935,"Sclerosis of the middle phalanx of the 2nd toe",["Increased bone density in the middle bone of the 2nd toe"],[100926,100947]],[100936,"Sclerosis of the middle phalanx of the 3rd toe",["Increased bone density in the middle bone of the 3rd toe"],[100927,100947]],[100937,"Sclerosis of the middle phalanx of the 4th toe",["Increased bone density in the middle bone of the 4th toe"],[100928,100947]],[100938,"Sclerosis of the middle phalanx of the 5th toe",["Increased bone density in the middle bone of the little toe","Increased bone density in the middle bone of the pinkie toe","Increased bone density in the middle bone of the pinky toe"],[100929,100947]],[100939,"Sclerosis of the distal phalanx of the 2nd toe",["Increased bone density in the outermost bone of the 2nd toe"],[10356,100926,100948]],[100940,"Sclerosis of the distal phalanx of the 3rd toe",["Increased bone density in the outermost bone of the 3rd toe"],[100927,100948]],[100941,"Sclerosis of the distal phalanx of the 4th toe",["Increased bone density in the outermost bone of the 4th toe"],[100928,100948]],[100942,"Sclerosis of the distal phalanx of the 5th toe",["Increased bone density in the outermost bone of the little toe","Increased bone density in the outermost bone of the pinkie toe","Increased bone density in the outermost bone of the pinky toe"],[100929,100948]],[100943,"Sclerosis of the proximal phalanx of the hallux",["Increased bone density in the innermost bone of the big toe"],[100930,100947]],[100944,"Sclerosis of the distal phalanx of the hallux",["Increased bone density in the outermost bone of the big toe"],[10053,100930,100948]],[100945,"Sclerosis of the 1st metatarsal",["Increased bone density in the 1st long bone of foot"],[100930]],[100946,"Sclerosis of proximal phalanx of toe",["Increased bone density in innermost toe bone","Sclerosis of the proximal phalanges of the toes"],[10184,100924]],[100947,"Sclerosis of middle phalanx of toe",["Increased bone density in middle toe bone","Sclerosis of the middle phalanges of the toes"],[10183,100924]],[100948,"Sclerosis of distal phalanx of toe",["Increased bone density in the outermost bone of the toes","Sclerosis of the distal phalanges of the toes"],[10182,100924]],[100950,"Decreased 3-hydroxyacyl-CoA dehydrogenase level",["Long chain 3 hydroxyacyl coA dehydrogenase deficiency","Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency","Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency"],[3287,12379]],[100951,"Enlarged fossa interpeduncularis",["Enlarged basal cistern","Enlarged interpeduncular cistern"],[2119]],[100952,"Enlarged sylvian cistern",["Enlarged lateral fissure","Enlarged lateral sulcus","Enlarged sylvian fissure"],[2119]],[100953,"Enlarged interhemispheric fissure",["Enlarged great longitudinal fissure","Enlarged longitudinal cerebral fissure","Enlarged longitudinal fissure"],[12703]],[100954,"Open operculum",[],[2538,6872]],[100955,"Giant cell granuloma of mandible",[],[277]],[100957,"Abnormal renal medulla morphology",["Abnormality of the renal medulla"],[12210]],[100958,"Narrow foramen obturatorium",[],[3172,3174]],[100959,"Dense metaphyseal bands",["Dense metaphyseal band sign","Dense metaphyseal lines","Lead lines in metaphyses of bones","Transverse metaphyseal bands"],[944]],[100960,"Lateral ventricular asymmetry",["Asymmetric lateral ventricles","Asymmetric ventricles","Cerebral lateral ventricular asymmetry"],[2118]],[100961,"Enlarged hippocampus",[],[25100]],[100962,"Excessive shyness",["Shyness"],[708]],[100963,"Hyperesthesia",["Hyperaesthesia"],[33747]],[200000,"Dysharmonic skeletal maturation",["Dysharmonic bone age"],[927]],[200001,"Dysharmonic accelerated bone age",[],[5616,200000]],[200003,"Splayed epiphyses",["Splayed end part of bone"],[5930]],[200005,"Abnormal shape of the palpebral fissure",["Abnormal morphology of the palpebral fissure","Abnormal shape of the opening between the eyelids"],[8050]],[200006,"Slanting of the palpebral fissure",["Slanting of the opening between the eyelids"],[8050]],[200007,"Abnormal size of the palpebral fissures",["Abnormal size of the opening between the eyelids","Abnormal size of the eyes"],[8050]],[200008,"Intestinal polyposis",["Growths in inner lining of intestine","Multiple intestinal polyps","Gastrointestinal polyps"],[5266]],[200011,"Abnormal length of corpus callosum",[],[1273]],[200012,"Short corpus callosum",[],[200011]],[200013,"Neoplasm of fatty tissue",["Tumor of fatty tissue","Tumour of fatty tissue"],[9124,11793]],[200015,"Symmetric great toe depigmentation",[],[1000]],[200016,"Acrokeratosis",["Acral keratosis"],[11368,200036]],[200017,"Cerebral white matter agenesis",["Agenesis of the cerebral white matter","White matter agenesis"],[12429]],[200018,"Protanomaly",["Colorblindness, partial, protan series","Red-weak"],[642,11519]],[200020,"Corneal erosion",["Damage to outer layer of the cornea of the eye"],[11495]],[200021,"Down-sloping shoulder",["Depressed shoulder","Down-sloping shoulders","Rounded shoulders","Rounded, sloping shoulders","Shoulder depression","Sloping shoulders"],[3043]],[200022,"Choroid plexus papilloma",[],[7376,12740,100835]],[200023,"Priapism",["hulseyism"],[100639]],[200024,"Premature chromatid separation",[],[2916]],[200025,"Mandibular pain",["Lower jaw pain"],[277,12531]],[200026,"Ocular pain",["Eye pain"],[12373,46506]],[200028,"Pretibial myxedema",["Graves dermopathy"],[11356]],[200029,"Vasculitis in the skin",["Cutaneous vasculitis"],[11276,34784]],[200030,"Punctate vasculitis skin lesions",[],[200029]],[200032,"Kayser-Fleischer ring",["Fleischer's ring","Fleischer-Kayser ring","Fleischer-Struempell ring"],[7957]],[200034,"Papule",["Papules","Skin papules"],[11355]],[200035,"Skin plaque",[],[11355]],[200036,"Skin nodule",["Growth of abnormal tissue on or under the skin"],[11355]],[200037,"Skin vesicle",[],[8066,11355]],[200039,"Pustule",["Pimple","Pustula","Pustular lesion","Pustules","Skin pustule","Skin pustules"],[11123]],[200040,"Epidermoid cyst",["Epidermal cyst","Epidermal inclusion cyst","Infundibular cyst","Keratin cyst","Central punctum opening in cyst","Epidermoid cysts","Sebaceous cyst"],[25245]],[200041,"Skin erosion",[],[11355]],[200042,"Skin ulcer",["Open skin sore"],[11355]],[200043,"Verrucae",["Warts"],[12740]],[200044,"Porokeratosis",[],[11368]],[200046,"Cat cry",["cat-like cry","cri de chat-associated cry"],[25429]],[200047,"Chondritis of pinna",["Inflammation of cartilage of pinna"],[377,100662]],[200048,"Cyanotic episode",[],[961]],[200049,"Upper limb hypertonia",[],[1446,2509]],[200050,"Bracket metacarpal epiphyses",["Bracket shaped end part of long bone of hand"],[5913]],[200053,"Hemihypotrophy of lower limb",["Asymmetric leg shortening","Asymmetric lower limb shortness"],[100556]],[200054,"Foot monodactyly",[],[1849]],[200055,"Small hand",["Disproportionately small hands","Small hands"],[5927]],[200056,"Macular scar",["Macular scarring"],[7401,100699]],[200057,"Marcus Gunn pupil",["Relative afferent pupil defect","Relative afferent pupillary defect"],[587]],[200058,"Angiosarcoma",[],[30448]],[200059,"Metastatic angiosarcoma",[],[200058]],[200063,"Colorectal polyposis",["Colorectal polyps"],[30255,100743]],[200064,"Asymmetry of iris pigmentation",[],[8034]],[200066,"Ribbonlike corneal degeneration",[],[7705]],[200067,"Recurrent spontaneous abortion",["Spontaneous abortion, recurrent"],[2686]],[200068,"Nonprogressive visual loss",["Decreased visual acuity, nonprogressive"],[572]],[200070,"Peripheral retinal atrophy",[],[1105]],[200071,"Peripheral vitreoretinal degeneration",[],[7773]],[200072,"Episodic quadriplegia",["Quadriplegia, episodic"],[2445]],[200073,"Respiratory insufficiency due to defective ciliary clearance",[],[2093,12261]],[200083,"Severe limb shortening",[],[2983]],[200084,"Giant cell hepatitis",["Giant cell hepatitis on biopsy","Giant cell hepatitis on liver biopsy","Giant cell hepatitis shown on biopsy"],[12115]],[200085,"Limb tremor",["Involuntary shaking of limb","Tremor of limbs"],[30188]],[200094,"Frontal open bite",[],[10807]],[200096,"Triangular-shaped open mouth",[],[194,207]],[200097,"Oral mucosal blisters",["Blebs of oral mucosa","Blisters of mouth","Bullae of oral mucosa","Oral blistering","Oral mucosa blisters"],[11830,33800]],[200098,"Absent skin pigmentation",["Lack of skin coloration"],[1010]],[200101,"Decreased/absent ankle reflexes",["Decreased or absent ankle reflexes"],[2522]],[200102,"Sparse or absent eyelashes",["Partial to total absence of eyelashes","Sparse to absent eyelashes"],[499]],[200104,"Absent fifth fingernail",["Absent nail of fifth finger"],[1817]],[200105,"Absent fifth toenail",["Missing fifth toenail"],[1802]],[200106,"Absent/shortened dynein arms",[],[12255]],[200107,"Shortened inner dynein arms",[],[200106]],[200108,"Shortened outer dynein arms",[],[200106]],[200109,"Absent/shortened outer dynein arms",["Respiratory cilia have shortened or absent outer dynein arms"],[200106]],[200111,"Absent stapes head",[],[8628]],[200113,"Aphalangy of hands and feet",["Aphalangy, hands and feet"],[5886,9776,10745]],[200114,"Metabolic alkalosis",[],[1948]],[200116,"Distal ileal atresia",[],[11102]],[200117,"Recurrent upper and lower respiratory tract infections",[],[2783,2788]],[200118,"Malabsorption of Vitamin B12",["Malabsorption of cyanocobalamin","Vitamin B12 deficiency caused by intestinal malabsorption"],[100508]],[200119,"Acute hepatitis",["Acute liver inflammation"],[12115]],[200120,"Chronic active hepatitis",["Hepatitis, chronic active"],[200123]],[200122,"Atypical or prolonged hepatitis",["Atypical or prolonged liver inflammation"],[12115]],[200123,"Chronic hepatitis",["Chronic liver inflammation"],[12115]],[200124,"Chronic hepatitis due to cryptosporidium infection",["Hepatitis, chronic, due to cryptosporidium infection"],[200123,5210119,5210139]],[200125,"Mitochondrial respiratory chain defects",[],[3287]],[200127,"Atrial cardiomyopathy",[],[1638]],[200128,"Biventricular hypertrophy",[],[1714]],[200133,"Lumbosacral meningocele",[],[100712]],[200134,"Epileptic encephalopathy",["Convulsive encephalopathy"],[1298]],[200136,"Oral-pharyngeal dysphagia",["Oral pharyngeal dysphagia","Oropharyngeal dysphagia"],[2015]],[200138,"Bilateral choanal atresia/stenosis",[],[452,4502]],[200141,"Small, conical teeth",["Conical microdontia","Small, cone shaped teeth","Small, peg shaped teeth","Small, pointed teeth"],[691,698]],[200143,"Megaloblastic erythroid hyperplasia",["Bone marrow biopsy shows megaloblastic erythroid hyperplasia"],[12132]],[200146,"Mucoid extracellular matrix accumulation",["Cystic medial necrosis of the aorta","MEMA"],[12180,32079]],[200147,"Neuronal loss in basal ganglia",[],[2134]],[200148,"Abnormal liver function tests during pregnancy",["Abnormal liver function tests during pregnancy, resolves postpartum"],[2910]],[200149,"CSF lymphocytic pleiocytosis",["CSF lymphocytosis"],[12229]],[200150,"Increased serum bile acid concentration during pregnancy",["Increased serum bile acid concentration during pregnancy, resolves"],[12202]],[200151,"Cutaneous mastocytosis",[],[8069,100495]],[200153,"Agenesis of lateral incisor",["Failure of development of lateral incisor","Absence of lateral incisor","Missing lateral incisor"],[6485]],[200154,"Agenesis of mandibular lateral incisor",["Failure of development of mandibular lateral incisor","Absence of lower lateral incisor","Absence of mandibular lateral incisor","Missing lower lateral incisor","Missing mandibular lateral incisor"],[200153,200161]],[200158,"Agenesis of permanent mandibular lateral incisor",["Failure of development of permanent mandibular lateral incisor","Absence of adult mandibular lateral incisor","Absence of permanent mandibular lateral incisor","Missing adult lower lateral incisor","Missing permanent mandibular lateral incisor"],[200154]],[200159,"Agenesis of primary mandibular lateral incisor",["Agenesis of deciduous mandibular lateral incisor","Failure of development of deciduous mandibular lateral incisor","Failure of development of primary mandibular lateral incisor","Absence of deciduous mandibular lateral incisor","Absence of lower front baby tooth","Absence of primary mandibular lateral incisor","Missing deciduous mandibular lateral incisor","Missing primary mandibular lateral incisor"],[200154]],[200160,"Agenesis of maxillary incisor",["Failure of development of maxillary incisor","Failure of development of upper incisor","Absence of upper front tooth","Absence of maxillary incisor","Missing upper front tooth","Missing upper incisor"],[6485]],[200161,"Agenesis of mandibular incisor",["Agenesis of lower incisor","Failure of development of mandibular incisor","Absence of lower front tooth","Absence of lower incisor","Absence of mandibular incisor","Missing lower front tooth","Missing lower incisor"],[6485]],[400000,"Tall chin",["Increased height of chin","Increased height of menton region","Long chin","Vertical excess of chin","Vertical hyperplasia of chin","Long lower third of face"],[306]],[400001,"Chin with vertical crease",["Chin with vertical furrow","Chin with vertical groove","Chin with vertical sulcus","Chin, vertical crease","Cleft chin","Vertical chin skin cleft","Vertical menton crease"],[306]],[400002,"Extra concha fold",["Concha, Extra Fold"],[377]],[400003,"Focal absence of the external ear",[],[8772]],[400004,"Long ear",["Long ears"],[377]],[400005,"Short ear",["Short ears"],[377]],[400007,"Polymenorrhea",[],[140]],[400008,"Menometrorrhagia",[],[140]],[410000,"Abnormal vomer morphology",["Abnormality of vomer","Abnormality of vomer bone","Defect of vomer"],[11821]],[410005,"Cleft hard palate",["Cleft bony palate","Cleft of hard palate"],[175,100737]],[410006,"Abnormality of ophthalmic artery",["Ophthalmic artery anomaly"],[3000062]],[410008,"Abnormality of the peripheral nervous system",[],[707]],[410009,"Abnormality of the somatic nervous system",[],[410008]],[410010,"Abnormality of somatic nerve plexus",[],[410009]],[410011,"Abnormality of masticatory muscle",["Abnormality of muscles of mastication"],[45037]],[410012,"Abnormal mouth floor morphology",["Abnormality of the floor of mouth","Abnormality of the mouth floor"],[163]],[410013,"Abnormality of the submandibular region",[],[271]],[410014,"Abnormal ganglion morphology",["Abnormality of ganglion"],[12639]],[410015,"Abnormal peripheral nervous system ganglion morphology",["Abnormality of ganglion of peripheral nervous system"],[410014]],[410016,"Abnormal cranial ganglion morphology",["Abnormality of cranial ganglion"],[410014]],[410017,"Otitis externa",["Swimmer's ear","Unusual susceptibility to otitis externa"],[372]],[410018,"Recurrent ear infections",["Frequent ear infections"],[2719]],[410019,"Epigastric pain",["Epigastrium pain"],[12531]],[410020,"Fish odor",["Fishy body odor","Fishy body odour","Fishy odor","Fishy odour"],[500001]],[410021,"Musty odor",[],[500001]],[410022,"Vaginal fish odor",[],[410020]],[410023,"Abnormal distribution of cell junction proteins in buccal mucosal cells",[],[31476,3000019]],[410026,"Abnormal periodontium morphology",["Abnormality of the periodontium"],[164]],[410027,"Alveolar bone loss around teeth",["Bone loss around teeth"],[410026]],[410028,"Recurrent oral herpes",["Recurrent herpes labialis"],[5353]],[410030,"Cleft lip",["Cleft of the lip"],[159]],[410031,"Submucous cleft of soft and hard palate",[],[185,410005,5201016]],[410033,"Unilateral alveolar cleft of maxilla",[],[10289]],[410034,"Bilateral alveolar cleft of maxilla",[],[10289]],[410035,"Abnormal T cell activation",["Abnormal T lymphocyte activation","Abnormal T-cell activation","Abnormal T-lymphocyte activation"],[11840]],[410042,"Abnormal liver morphology",[],[1392]],[410043,"Abnormal neural tube morphology",[],[2011]],[410050,"Decreased circulating 1,5 anhydroglucitol concentration",["Decreased level of 1,5 anhydroglucitol in serum","Decreased level of 1,5-AG in serum","Decreased level of 1,5-anhydro-D-glucitol in serum","Decreased level of 1,5-anhydroglucitol in serum"],[20347]],[410051,"Increased level of 3-hydroxy-3-methylglutaric acid in urine",[],[3215]],[410052,"Increased level of allantoin in serum",[],[4364]],[410053,"Elevated circulating GABA concentration",["Elevated gamma-aminobutyric acid concentration","Elevated gamma-aminobutyric acid level","Elevated gamma-aminobutyric acid level in blood","Increased circulating GABA concentration","Increased gamma-aminobutyric acid concentration","Increased gamma-aminobutyric acid level","Increased gamma-aminobutyric acid level in blood","Increased level of GABA in serum","Increased level of gamma-aminobutyric acid in serum"],[34025]],[410054,"Decreased circulating GABA concentration",["Decreased circulating gamma-aminobutyric acid concentration","Decreased gamma-aminobutyric acid concentration","Decreased gamma-aminobutyric acid level","Decreased gamma-aminobutyric acid level in blood","Decreased level of gamma-aminobutyric acid in serum","Reduced gamma-aminobutyric acid concentration","Reduced gamma-aminobutyric acid level","Reduced gamma-aminobutyric acid level in blood"],[34025]],[410055,"Decreased level of erythritol in urine",[],[31979]],[410056,"Decreased CSF erythritol concentration",["Decreased level of erythritol in cerebrospinal fluid"],[25454]],[410057,"Elevated circulating D-threitol concentration",["Elevated D-threitol concentration","Elevated D-threitol level","Elevated D-threitol level in blood","Increased D-threitol concentration","Increased D-threitol level","Increased D-threitol level in blood"],[20349]],[410058,"Increased CSF D-threitol concentration",["Increased level of D-threitol in CSF","Increased level of D-threitol in cerebrospinal fluid"],[25454]],[410059,"Increased level of D-threitol in urine",[],[31979]],[410060,"Decreased level of D-mannose in urine",[],[31979]],[410061,"Elevated circulating galactitol concentration",["Elevated galactitol concentration","Elevated galactitol level","Elevated galactitol level in blood","Increased galactitol concentration","Increased galactitol level","Increased galactitol level in blood","Increased level of galactitol in plasma"],[20349]],[410062,"Increased level of galactitol in urine",[],[31979]],[410063,"Increased level of galactonate in red blood cells",["Increased level of galactonate in RBCs","Increased level of galactonate in erythrocytes"],[4354]],[410064,"Increased level of galactitol in red blood cells",["Increased level of galactitol in erythrocytes"],[11013]],[410065,"Elevated circulating hippuric acid concentration",["Elevated hippuric acid concentration","Elevated hippuric acid level","Elevated hippuric acid level in blood","Increased hippuric acid concentration","Increased hippuric acid level","Increased hippuric acid level in blood","Increased level of N-benzoylglycine in blood"],[4354]],[410066,"Increased level of hippuric acid in urine",["Increased level of N-benzoylglycine in urine"],[31980]],[410067,"Increased level of L-fucose in urine",[],[31979]],[410069,"Increased level of propylene glycol in blood",["Increased level of propane-1,2-diol in blood"],[32180]],[410070,"Increased level of ribitol in urine",[],[31979]],[410071,"Increased CSF ribitol concentration",["Increased level of ribitol in cerebrospinal fluid"],[25454]],[410072,"Increased level of ribose in urine",[],[31979]],[410073,"Increased CSF ribose concentration",["Increased level of ribose in CSF","Increased level of ribose in cerebrospinal fluid"],[25454]],[410074,"Increased level of xylitol in urine",[],[31979]],[410075,"Increased CSF xylitol concentration",["Increased level of xylitol in CSF","Increased level of xylitol in cerebrospinal fluid"],[25454]],[410132,"Increased level of L-pyroglutamic acid in urine",["Elevated urine 5-oxoproline","Increased level of 5-oxo-L-proline in urine"],[33097]],[410133,"Chronic urticaria",["CIU","CSU","Chronic idiopathic urticaria","Chronic spontaneous urticaria"],[1025]],[410134,"Physical urticaria",[],[1025]],[410135,"Cold urticaria",[],[410134]],[410136,"Aquagenic urticaria",[],[410134]],[410137,"Solar urticaria",[],[992,410134]],[410138,"Vibratory urticaria",[],[410134]],[410139,"Exercise induced anaphylaxis",[],[100845]],[410144,"Abnormal circulating biotinidase concentration",["Abnormal biotinidase level"],[12379]],[410145,"Decreased circulating biotinidase concentration",["Decreased biotinidase level"],[410144]],[410146,"Elevated circulating biotinidase concentration",["Increased biotinidase level"],[410144]],[410147,"Eosinophilic infiltration in the stomach mucosa",["Eosinophilic gastritis"],[5263,32064]],[410148,"Idiopathic anaphylaxis",[],[100845]],[410149,"Drug-induced anaphylaxis",["Drug induced anaphylaxis"],[100845]],[410151,"Eosinophilic infiltration of the esophagus",["Eosinophilic esophagitis"],[32064,100633]],[410152,"Eosinophilic microabscess formation in the esophagus",["Eosinophilic micro-abscess formation in the esophagus","Eosinophilic micro-abscess formation in the oesophagus"],[100633]],[410153,"Increased level of methylsuccinic acid in urine",["Increased level of pyrotartaric acid in urine"],[3215]],[410154,"Elevated circulating myristic acid concentration",["Elevated myristic acid concentration","Elevated myristic acid level","Elevated myristic acid level in blood","Increased level of tetradecanoic acid in serum","Increased myristic acid concentration","Increased myristic acid level","Increased myristic acid level in blood"],[3455]],[410156,"Increased level of N-acetylneuraminic acid in urine",["Increased urinary sialic acid","Increased level of NANA in urine","Increased level of Neu5Ac in urine"],[33354]],[410157,"Increased level of N-acetylneuraminic acid in fibroblasts",["Increased level of NANA in fibroblasts","Increased level of Neu5Ac in fibroblasts","Increased level of sialic acid in fibroblasts"],[32243]],[410166,"Defective interstrand cross-link repair",[],[3254]],[410167,"Abnormal morphology of the chest musculature",["Muscle issues in the chest","Abnormality of the chest musculature"],[40286]],[410168,"Abnormality of the back musculature",["Muscle issues in the back"],[40286]],[410169,"Abnormal morphology of the shoulder musculature",["Abnormality of the shoulder musculature","Muscle issues in the shoulder"],[1446]],[410170,"Hippocampal atrophy",["Atrophy of the hippocampus","Degeneration of the hippocampus"],[7112,25100]],[410171,"Increased cotinine level",[],[31840]],[410172,"Blood xenobiotic",[],[31838]],[410173,"Increased circulating troponin I concentration",["Increased troponin I level in blood"],[500020]],[410174,"Increased circulating troponin T concentration",["Increased troponin T level in blood"],[500020]],[410175,"Hyperketonemia",["Elevated circulating ketone body concentration","Increased level of ketone bodies in blood","Ketonemia"],[1946]],[410176,"Abnormal circulating glucose-6-phosphate dehydrogenase concentration",["Abnormal G6PD level","Abnormal G6PD level in blood","Abnormal glucose-6-phosphate dehydrogenase level","Abnormal glucose-6-phosphate dehydrogenase level in blood"],[10876]],[410178,"Elevated circulating glucose-6-phosphate dehydrogenase activity",["Elevated glucose-6-phosphate dehydrogenase concentration","Elevated glucose-6-phosphate dehydrogenase level","Elevated glucose-6-phosphate dehydrogenase level in blood","Increased G6PD level in blood","Increased glucose-6-phosphate dehydrogenase concentration","Increased glucose-6-phosphate dehydrogenase level","Increased glucose-6-phosphate dehydrogenase level in blood"],[410176]],[410179,"Decreased circulating glucose-6-phosphate dehydrogenase activity",["Decreased G6PD level in blood","Decreased glucose-6-phosphate dehydrogenase concentration","Decreased glucose-6-phosphate dehydrogenase level","Decreased glucose-6-phosphate dehydrogenase level in blood","Reduced glucose-6-phosphate dehydrogenase concentration","Reduced glucose-6-phosphate dehydrogenase level","Reduced glucose-6-phosphate dehydrogenase level in blood"],[410176]],[410180,"Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot",["Abnormal G6PD level in dried blood spot","Abnormal glucose-6-phosphate dehydrogenase level in DBS"],[410176]],[410181,"Increased glucose-6-phosphate dehydrogenase level in dried blood spot",["Increased G6PD level in dried blood spot","Increased glucose-6-phosphate dehydrogenase level in DBS"],[410180]],[410182,"Decreased glucose-6-phosphate dehydrogenase level in dried blood spot",["Decreased G6PD level in dried blood spot","Decreased glucose-6-phosphate dehydrogenase level in DBS"],[410180]],[410183,"Abnormal glucose-6-phosphate dehydrogenase level in leukocytes",["Abnormal G6PD level in leukocytes"],[34858]],[410184,"Abnormal erythrocyte glucose-6-phosphate dehydrogenase concentration",["Abnormal G6PD level in RBCs","Abnormal G6PD level in red blood cells","Abnormal glucose-6-phosphate dehydrogenase level in red blood cells"],[34737]],[410185,"Abnormal glucose-6-phosphate dehydrogenase level in tissue",["Abnormal G6PD level in tissue"],[6000231]],[410186,"Increased glucose-6-phosphate dehydrogenase level in tissue",["Increased G6PD level in tissue"],[410185]],[410187,"Decreased glucose-6-phosphate dehydrogenase level in tissue",["Decreased G6PD level in tissue"],[410185]],[410188,"Decreased erythrocyte glucose-6-phosphate dehydrogenase concentration",["Decreased G6PD level in RBCs","Decreased G6PD level in red blood cells","Decreased glucose-6-phosphate dehydrogenase level in red blood cells"],[410184]],[410189,"Increased erythrocyte glucose-6-phosphate dehydrogenase concentration",["Increased G6PD level in RBCs","Increased G6PD level in red blood cells","Increased glucose-6-phosphate dehydrogenase level in red blood cells"],[410184]],[410190,"Decreased glucose-6-phosphate dehydrogenase level in leukocytes",["Decreased G6PD level in leukocytes"],[410183]],[410191,"Increased glucose-6-phosphate dehydrogenase level in leukocytes",["Increased G6PD level in leukocytes"],[410183]],[410193,"Abnormal circulating UDP glucose-4-epimerase concentration",["Abnormal UDP-glucose 4-epimerase activity level in plasma","Abnormal circulating uridine diphosphate glucose-4-epimerase concentration","Abnormal uridine diphosphate glucose-4-epimerase level in plasma"],[12379]],[410194,"Increased circulating UDP glucose-4-epimerase concentration",["Increased UDP-glucose 4-epimerase level in plasma","Increased circulating uridine diphosphate glucose-4-epimerase concentration","Increased uridine diphosphate glucose-4-epimerase level in plasma"],[410193]],[410195,"Decreased circulating UDP glucose-4-epimerase concentration",["Decreased UDP glucose-4-epimerase level in plasma","Decreased UDP-glucose 4-epimerase level in plasma","Decreased circulating uridine diphosphate glucose-4-epimerase concentration","Decreased uridine diphosphate glucose-4-epimerase level in plasma"],[410193]],[410196,"Abnormal erythrocyte UDP glucose-4-epimerase concentration",["Abnormal UDP-glucose 4-epimerase level in RBCs","Abnormal UDP-glucose 4-epimerase level in red blood cells","Abnormal erythrocyte uridine diphosphate glucose-4-epimerase concentration","Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells"],[30272]],[410197,"Increased erythrocyte UDP glucose-4-epimerase concentration",["Increased UDP-glucose 4-epimerase level in RBCs","Increased UDP-glucose 4-epimerase level in red blood cells","Increased uridine diphosphate glucose-4-epimerase level in red blood cells"],[410196]],[410198,"Decreased erythrocyte UDP glucose-4-epimerase concentration",["Decreased UDP-glucose 4-epimerase level in RBCs","Decreased UDP-glucose 4-epimerase level in red blood cells","Decreased erythrocyte uridine diphosphate glucose-4-epimerase concentration","Decreased uridine diphosphate glucose-4-epimerase level in red blood cells"],[410196]],[410199,"Increased CSF urate concentration",["Elevated CSF urate concentration","Increased cerebrospinal fluid urate"],[500117]],[410200,"Positive meconium barbiturate test",[],[500098]],[410201,"Positive hair barbiturate test",[],[500099]],[410202,"Positive stool barbiturate test",[],[500097]],[410203,"Positive gastric fluid barbiturate test",[],[500101]],[410204,"Increased intestinal transit time",[],[30896]],[410205,"Abnormal circulating nicotinurate concentration",["Abnormal circulating N-nicotinoylglycine level","Abnormal circulating nicotinurate level"],[4364]],[410206,"Increased circulating nicotinurate level",["Increased circulating N-nicotinoylglycine level"],[410205]],[410207,"Positive methadone plasma/serum test",[],[500100]],[410208,"Positive plasma/serum cotinine test",[],[500100]],[410209,"Folate deficiency in CSF",["Folate deficiency in cerebrospinal fluid"],[20351]],[410210,"Abnormal cord blood measurement",[],[10881]],[410211,"Abnormal blood gas level in cord blood",[],[410210]],[410212,"Hyperoxemia in cord blood",["High cord blood oxygen level"],[500259]],[410213,"Hypoxemia in cord blood",["Low cord blood oxygen level"],[500259]],[410214,"Hypercapnia in cord blood",["High cord blood carbon dioxide level"],[500258]],[410215,"Hypocapnia in cord blood",["Low cord blood carbon dioxide level"],[500258]],[410216,"Abnormal circulating 5-methyltetrahydrofolate concentration",["Abnormal blood 5-methyltetrahydrofolate level","Abnormal serum methylfolate Level"],[40087]],[410217,"Reduced blood 5-methyltetrahydrofolate level",["Reduced serum methylfolate Level"],[410216]],[410218,"Hypoplasia of maxilla relative to mandible",["Disorder of maxillary and mandibular dental arch relationship"],[327]],[410219,"Hypoplasia of mandible relative to maxilla",["Disorder of mandibular and maxillary dental arch relationship"],[347]],[410220,"Increased anti-dairy protein IgE antibody level",["Increased anti-dairy IgE antibody level"],[410227]],[410221,"Increased anti-animal protein IgE antibody level",["Increased level of anti-animal protein IgE antibody"],[32336]],[410222,"Increased anti-seafood IgE antibody level",["Increased level of anti-seafood IgE antibody"],[410227]],[410223,"Increased anti-dust mite IgE antibody level",["Increased level of anti-dust mite IgE antibody"],[32336]],[410224,"Increased anti-bacteria IgE antibody level",["Increased level of anti-bacteria IgE antibody"],[32336]],[410225,"Increased anti-drug IgE antibody level",["Increased level of anti-drug IgE antibody"],[32336]],[410226,"Increased anti-feather IgE antibody level",[],[32336]],[410227,"Increased anti-food allergen IgE antibody level",["Increased level of anti-food allergen IgE antibody"],[32336]],[410228,"Increased anti-plant based food allergen IgE antibody level",["Increased level of anti-plant based food allergen IgE antibody"],[410227]],[410229,"Increased anti-gluten IgE antibody level",["Increased level of anti-gluten IgE antibody"],[410227]],[410230,"Increased anti-nut food product IgE antibody level",[],[410227]],[410231,"Increased anti-egg IgE antibody level",[],[410227]],[410232,"Increased anti-fungi IgE antibody level",["Increased anti-fungal IgE antibody level","Increased anti-fungus IgE antibody level"],[32336]],[410233,"Increased anti-meat allergen IgE antibody level",[],[410227]],[410234,"Increased anti-parasite IgE antibody level",[],[32336]],[410235,"Increased anti-insect IgE antibody level",[],[32336]],[410236,"Increased anti-venom IgE antibody level",[],[410235]],[410238,"Increased anti-plant product IgE antibody level",[],[32336]],[410239,"Positive urine norcotinine test",[],[31840]],[410240,"Abnormal circulating IgA concentration",["Abnormal IgA level in blood","Abnormal circulating IgA level"],[10701]],[410241,"Abnormal circulating IgE concentration",["Abnormal IgE level in blood","Abnormal circulating IgE level"],[10701]],[410242,"Abnormal circulating IgG concentration",["Abnormal IgG level in blood","Abnormal circulating IgG level"],[10701]],[410243,"Abnormal circulating IgM concentration",["Abnormal IgM level in blood","Abnormal circulating IgM level"],[10701]],[410244,"Abnormal circulating IgD concentration",["Abnormal IgD level in blood","Abnormal circulating IgD level"],[10701]],[410245,"Decreased circulating IgD concentration",["Decreased IgD","Decreased IgD in blood","Decreased circulating IgD","IgD deficiency"],[4313,410244]],[410246,"Increased circulating IgD concentration",["Elevated IgD","Elevated serum IgD","IgD hypergammaglobulinemia","Increased IgD level","Increased circulating IgD level","Increased levels of IgD","Increased serum IgD"],[10702,410244]],[410247,"Increased anti-animal dander IgE antibody level",["Increased level of anti-dander IgE antibody"],[410221]],[410248,"Increased anti-house dust mite IgE antibody level",["Increased anti-house dust IgE antibody level","Increased level of anti-house dust IgE antibody"],[410223]],[410249,"Increased anti-alpha-gal IgE antibody level",["Increased anti-galactose-alpha-1, 3 galactose IgE antibody level"],[32336]],[410251,"Decreased neutrophil toll-like receptor signalling",["Abnormal L-selectin shedding"],[11990]],[410252,"Persistently decreased total neutrophil count",["Chronic neutropenia"],[1875]],[410253,"Myeloid maturation arrest",["Myeloid maturation arrest in bone marrow"],[33606]],[410254,"Cyclic neutropenia in myeloid maturation arrest in bone marrow",[],[40289]],[410255,"Transiently decreased total neutrophil count",["Transient neutropenia"],[1875]],[410256,"Infection associated neutropenia",[],[410255]],[410257,"Neutrophilia in presence of infection",[],[11897]],[410258,"Neutrophilia in absence of infection",[],[11897]],[410259,"Hepatopulmonary fusion",["Hepatic pulmonary fusion"],[410042]],[410260,"Asymmetrical gluteal crease",["Asymmetrical buttock crease","Asymmetrical gluteal sulcus","Asymmetrical horizontal gluteal crease"],[1437]],[410261,"Wide space between 4th and 5th toe",["Wide space between the 4th and 5th toe"],[10321]],[410262,"Lower cranial nerve dysfunction",["Abnormal lower cranial nerve function"],[31910]],[410263,"Brain imaging abnormality",["Abnormal brain imaging"],[12638]],[410264,"Subglottic hemangioma",["Airway hemangioma"],[1028]],[410265,"Supraglottic hemangioma",[],[1028]],[410266,"Visceral hemangioma",[],[1028]],[410267,"Intestinal hemangioma",["Bowel hemangioma","Intestinal hemangiomas"],[410266]],[410268,"Spleen hemangioma",["Splenic hemangioma"],[1028]],[410269,"Labial hemangioma",[],[1028]],[410270,"Esophageal hemangioma",[],[1028]],[410271,"Laryngeal hemangioma",["Throat hemangioma"],[1028]],[410272,"Vulvar hemangioma",[],[1028]],[410273,"Retropharyngeal hemangioma",[],[1028]],[410274,"Paraspinal hemangioma",[],[1028]],[410275,"Lumbosacral hemangioma",["Lumbar/sacral hemangioma"],[1028]],[410276,"Supraumbilical raphe",["Midline supraumbilical raphe"],[766]],[410277,"Sternal pit",[],[766]],[410278,"Pituitary gland cyst",["Cyst of the pituitary gland"],[10576]],[410279,"Atrophic pituitary gland",["Atrophic pituitary","Pituitary gland atrophy"],[12506]],[410280,"Pediatric onset",["Onset before adulthood","Paediatric onset"],[3674]],[410281,"Dyspepsia",["Indigestion"],[2027]],[410282,"Abnormal circulating amylase concentration",["Abnormal circulating amylase level"],[10876]],[410283,"Positive blood acetaminophen test",["Positive blood Tylenol test","Positive blood paracetamol test"],[410172]],[410284,"Positive norpropoxyphene blood test",[],[410172]],[410285,"Positive meconium methadone test",[],[500098]],[410286,"Positive blood molindone test",["Positive blood Moban test"],[410172]],[410287,"Intrathoracic hemangioma",["Chest hemangioma"],[1028]],[410288,"Hyperamylasemia",["Increased circulating amylase level"],[410282]],[410289,"Hypoamylasemia",["Decreased circulating amylase level"],[410282]],[410290,"Positive urine norpropoxyphene test",[],[31840]],[410291,"Negativism",[],[745]],[410292,"Abnormal circulating isohemagglutinin concentration",["Abnormal circulating isohemagglutinin level","Abnormal level of natural antibody to blood group agents","Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin)"],[12475]],[410293,"Absent circulating isohemagglutinin",["Absent natural antibody to blood group agents","Complete or near-complete absence of isohemagglutinins"],[410292]],[410294,"Decreased specific antibody response to protein vaccine",[],[32140]],[410295,"Complete or near-complete absence of specific antibody response to tetanus vaccine",[],[410294]],[410296,"Complete or near-complete absence of specific antibody response to hepatitis B vaccine",[],[410294]],[410297,"Partial absence of specific antibody response to tetanus vaccine",[],[410294]],[410298,"Partial absence of specific antibody response to hepatitis B vaccine",[],[410294]],[410299,"Decreased specific antibody response to unconjugated polysaccharide vaccine",[],[32140]],[410300,"Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharide",[],[410299]],[410301,"Partial absence of specific antibody response to unconjugated pneumococcus polysaccharide",[],[410299]],[410302,"Decreased specific antibody response to protein-conjugated polysaccharide vaccine",[],[32140]],[410303,"Complete or near-complete absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccine",[],[410302]],[410304,"Complete or near-complete absence of specific antibody response to protein-conjugated meningococcus vaccine",[],[410302]],[410305,"Partial absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccine",[],[410302]],[410306,"Partial absence of specific antibody response to protein-conjugated meningococcus vaccine",[],[410302]],[410307,"Positive stool methadone test",[],[500097]],[410308,"Decreased specific antibody response to infection",[],[12475]],[410309,"Alpha-aminoadipic aciduria",["2-aminoadipic aciduria"],[3215,33098]],[410310,"Abnormality of neutrophil morphology in CSF",["Abnormality of neutrophil morphology in cerebrospinal fluid"],[2921]],[410311,"Hyposegmentation of neutrophil nuclei in CSF",["Hyposegmentation of neutrophil nuclei in cerebrospinal fluid"],[410310]],[410312,"Hypersegmentation of neutrophil nuclei in CSF",["Hypersegmentation of neutrophil nuclei in cerebrospinal fluid"],[410310]],[410313,"Abnormal urinary 1-methylhistidine concentration",[],[33097]],[410314,"Decreased urinary 1-methylhistidine",[],[410313]],[410315,"Increased urinary 1-methylhistidine",["1-Methylhistidinuria"],[410313]],[410316,"Abnormal urinary 3-methylhistidine level",[],[33097]],[410317,"Increased urinary 3-methylhistidine",["3-Methylhistidinuria"],[410316]],[410318,"Decreased urinary 3-methylhistidine",[],[410316]],[410319,"Alpha-gal allergy",["Allergy to alpha-gal","IgE-mediated alpha-gal allergy","Immunoglobulin E-mediated alpha-gal allergy"],[12393]],[410320,"Animal protein allergy",["Allergy to animal proteins","IgE-mediated animal protein allergy","Immunoglobulin E-mediated animal protein allergy"],[12393]],[410321,"Animal dander allergy",["Allergy to animal dander","IgE-mediated animal dander allergy","Immunoglobulin E-mediated animal dander allergy"],[410320]],[410322,"Bacteria allergy",["Allergy to bacteria","IgE-mediated bacteria allergy","Immunoglobulin E-mediated bacteria allergy"],[12393]],[410323,"Drug allergy",["Allergy to drugs","IgE-mediated drug allergy","Immunoglobulin E-mediated drug allergy"],[12393]],[410324,"Dust mite allergy",["Allergy to dust mites","House dust mite allergy","IgE-mediated dust mite allergy","Immunoglobulin E-mediated dust mite allergy"],[12393]],[410326,"Feather allergy",["Allergy to feathers","IgE-mediated feather allergy","Immunoglobulin E-mediated feather allergy"],[12393]],[410327,"Dairy allergy",["Allergy to dairy","IgE-mediated dairy allergy","Immunoglobulin E-mediated dairy allergy"],[500093]],[410328,"Egg allergy",["Allergy to eggs","IgE-mediated egg allergy","Immunoglobulin E-mediated egg allergy"],[500093]],[410329,"Gluten allergy",["Allergy to gluten","IgE-mediated gluten allergy","Immunoglobulin E-mediated gluten allergy"],[500093]],[410330,"Meat allergen allergy",["Allergy to meat allergens","IgE-mediated meat allergen allergy","Immunoglobulin E-mediated meat allergen allergy","Meat allergy"],[500093]],[410331,"Nut food product allergy",["Allergy to nut food products","IgE-mediated nut food product allergy","Immunoglobulin E-mediated nut food product allergy","Nut allergy"],[410332]],[410332,"Plant based food allergy",["Allergy to plant based food allergens","IgE-mediated plant based food allergen allergy","Immunoglobulin E-mediated plant based food allergen allergy"],[500093]],[410333,"Seafood allergy",["Allergy to seafood","IgE-mediated seafood allergy","Immunoglobulin E-mediated seafood allergy"],[500093]],[410334,"Fungi allergy",["Allergy to fungi","Fungal allergy","Fungus allergy","IgE-mediated fungi allergy","Immunoglobulin E-mediated fungi allergy"],[12393]],[410335,"Insect allergy",["Allergy to insects","IgE-mediated insect allergy","Immunoglobulin E-mediated insect allergy"],[12393]],[410336,"Venom allergy",["Allergy to venom","IgE-mediated venom allergy","Immunoglobulin E-mediated venom allergy"],[410335]],[410337,"Parasite allergy",["Allergy to parasites","IgE-mediated parasite allergy","Immunoglobulin E-mediated parasite allergy"],[12393]],[410338,"Plant product allergy",["Allergy to plant products","IgE-mediated plant product allergy","Immunoglobulin E-mediated plant product allergy"],[12393]],[410339,"Insect bite allergy",["Allergy to insect bites","IgE-mediated insect bite allergy","Immunoglobulin E-mediated insect bite allergy"],[410335]],[410340,"Focal epithelial hyperplasia of oral mucosa",["Focal epithelial hyperplasia of the lining of mouth","Oral mucosa epithelial hyperplasia"],[11830]],[410341,"Abnormal circulating heparan sulfate concentration",["Abnormal circulating heparan sulphate level","Abnormal heparan sulfate level","Abnormality of the concentration of heparan sulfate in the blood","Abnormality of the concentration of heparan sulphate in the blood"],[4364,11012]],[410342,"Increased circulating heparan sulfate level",["Increased blood heparan sulfate concentration","Increased blood heparan sulphate concentration","Increased circulating heparan sulphate level"],[410341]],[410343,"Decreased circulating heparan sulfate concentration",["Decreased blood heparan sulfate concentration","Decreased blood heparan sulphate concentration","Decreased circulating heparan sulphate level","Decreased heparan sulfate concentration","Decreased heparan sulfate level","Decreased heparan sulfate level in blood","Reduced heparan sulfate concentration","Reduced heparan sulfate level","Reduced heparan sulfate level in blood"],[410341]],[410344,"Shortened O-fucosylated glycan on properdin",["Presence of terminal O-fucose glycans on properdin"],[12359]],[410345,"Increased urinary polyhexose",["Increased polyhexose concentration in urine"],[10471]],[410346,"Increased urinary galactosylated oligosaccharide",["Increased concentration of galactosylated oligosaccharides in urine"],[10471]],[410347,"Increased urinary high-mannose-type oligosaccharide",["Increased concentration of high-mannose-type oligosaccharides in urine"],[10471]],[410348,"Increased urinary multiantennary sialylated oligosaccharide",["Increase concentration of multiantennary sialylated oligosaccharides in urine"],[10471]],[410349,"Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level",[],[12379]],[410350,"Increased urinary fucosylated oligosaccharide",["Increased concentration of fucosylated oligosaccharides in urine"],[10471]],[410351,"Abnormal complex N-glycan level",["Abnormal concentration of complex N-glycans on glycoproteins"],[12347]],[410352,"Increased complex N-glycan level",["Increased concentration of complex N-glycans on glycoproteins"],[410351]],[410353,"Decreased complex N-glycan level",["Increased truncated complex N-glycans on glycoproteins"],[410351]],[410354,"Increased sialylated N-glycan level",["Increased concentration of sialylated N-glycans on glycoproteins"],[12349]],[410355,"Decreased sialylated N-glycan level",["Decreased concentration of sialylated N-glycans on glycoproteins"],[12349]],[410356,"Abnormal high-mannose N-glycan level",["Abnormal high-mannose N-glycans on glycoprotein concentration"],[12347]],[410357,"Increased high-mannose N-glycan level",["Increased high-mannose N-glycans on glycoprotein concentration"],[410356]],[410358,"Decreased high-mannose N-glycan level",["Decreased high-mannose N-glycans on glycoprotein concentration"],[410356]],[410359,"Abnormal core 1 O-glycan level",["Abnormal concentration of T-antigen"],[12358]],[410360,"Increased core 1 O-glycan level",["Increased T-antigen concentration"],[410359]],[410361,"Decreased core 1 O-glycan level",["Decreased T-antigen concentration"],[410359]],[410362,"Decreased O-mannosyl glycans on alpha-dystroglycan",["Reduced O-mannosyl glycans on alpha-dystroglycan"],[12358]],[410363,"Increased monosialylated core 1 O-glycan level",["Increased sialyl T-antigen concentration"],[12362]],[410364,"Decreased monosialylated core 1 O-glycan level",["Decreased sialyl T-antigen concentration"],[12362]],[410365,"Increased disialylated core 1 O-glycan level",["Increased disialyl T-antigen concentration"],[12362]],[410366,"Increased globoside Gb4 level",["Increased globoside Gb4 concentration"],[4343]],[410367,"Increased hepatitis A virus antibody level",[],[430051]],[410368,"Increased globoside Gb3 level",["Increased globoside Gb3 concentration"],[4343]],[410369,"Increased hepatitis B virus antibody level",[],[430051]],[410370,"Absence of ganglioside GM3",[],[4343]],[410371,"Increased hepatitis C virus antibody level",[],[430051]],[410372,"Increased Tn-antigen level",["Increased O-GalNac on glycoprotein concentration"],[12358]],[410373,"Abnormal naive CD4+ T cell proportion",["Abnormal naive CD4-positive T cell proportion","Abnormal proportion of CD4+CD45RA+ cells","Abnormal proportion of naive CD4 T cells","Abnormal proportion of naive CD4+ T cells","Abnormal proportion of naive thymus-derived CD4-positive, alpha-beta T cells"],[31392,31396]],[410374,"Abnormal naive CD8+ T cell proportion",["Abnormal naive CD8 T cell proportion","Abnormal proportion of naive CD8 T cells","Abnormal proportion of naive CD8+ T cells"],[20115,31396]],[410375,"Increased naive CD4+ T cell proportion",["Elevated proportion of naive CD4 T cells","Increased naive CD4-positive T cell proportion","Increased proportion of CD4+CD45RA+ cells","Increased proportion of naive CD4+ T cells","Increased proportion of naive thymus-derived CD4-positive, alpha-beta T cells"],[31398,410373]],[410376,"Increased naive CD8+ T cell proportion",["Elevated proportion of naive CD8 T cells","Elevated proportion of naive thymus-derived CD8-positive, alpha-beta T cells","Increased proportion of naive CD8 T cells","Increased proportion of naive CD8+ T cells"],[31398,410374]],[410377,"Decreased naive CD8+ T cell proportion",["Decreased naive CD8 T cell proportion","Decreased proportion of naive CD8 T cells","Decreased proportion of naive CD8+ T cells","Reduced proportion of naive CD8 T cells","Reduced proportion of naive thymus-derived CD8-positive, alpha-beta T cells"],[31397,410374]],[410378,"Decreased naive CD4+ T cell proportion",["Decreased naive CD4-positive T cell proportion","Decreased proportion of CD4+CD45RA+ cells","Decreased proportion of naive CD4 T cells","Decreased proportion of naive CD4+ T cells","Decreased proportion of naive thymus-derived CD4-positive, alpha-beta T cells","Reduced proportion of naive CD4 T cells"],[31397,410373]],[410379,"Abnormal memory CD4+ T cell proportion",["Abnormal CD4+ memory T cell proportion","Abnormal proportion of CD4+ memory T cells","Abnormal proportion of CD4-positive memory T cells"],[31392,32182]],[410380,"Abnormal memory CD8+ T cell proportion",["Abnormal CD8+ memory T cell proportion","Abnormal proportion of CD8-positive memory T cells"],[20115,32182]],[410383,"Abnormal effector memory CD8+ T cell proportion",["Abnormal proportion of effector memory CD8-positive T cells"],[410380]],[410384,"Abnormal central memory CD8+ T cell proportion",["Abnormal proportion of central memory CD8-positive T cells"],[410380]],[410385,"Decreased memory CD8+ T cell proportion",["Decreased proportion of CD8-positive memory T cells"],[32183,410380]],[410386,"Decreased CD4+ memory T cell proportion",["Decreased proportion of CD4-positive memory T cells"],[32183,410379]],[410388,"Decreased central memory CD4+ T cell proportion",["Decreased proportion of CD4+ central memory cells","Decreased proportion of CD4-positive central memory cells","Decreased proportion of central memory CD4+, alpha-beta T cell","Reduced proportion of CD4+ central memory cells"],[410386,5210410]],[410389,"Decreased central memory CD8+ T cell proportion",["Decreased proportion of central memory CD8-positive T cells"],[410384,410385]],[410390,"Decreased effector memory CD8+ T cell proportion",["Decreased proportion of effector memory CD8-positive T cells"],[410383,410385]],[410391,"Increased memory CD4+ T cell proportion",["Increased CD4+ memory T cell proportion","Increased proportion of CD4+ memory T cells","Increased proportion of CD4-positive memory T cells"],[32184,410379]],[410392,"Increased memory CD8+ T cell proportion",["Increased proportion of CD8-positive memory T cells"],[32184,410380]],[410393,"Increased central memory CD4+ T cell proportion",["Elevated proportion central memory CD4-positive, alpha-beta T cells","Elevated proportion of CD4+ central memory cells","Increased proportion of CD4+ central memory cells","Increased proportion of central memory CD4+, alpha-beta T cell"],[410391,5210410]],[410395,"Increased effector memory CD8+ T cell proportion",["Increased proportion of effector memory CD8-positive T cells"],[410383,410392]],[410396,"Increased central memory CD8+ T cell proportion",["Increased proportion of central memory CD8-positive T cells"],[410384,410392]],[410397,"Bronchiolectasis",["Bronchiolectasia"],[25426]],[410399,"Positive blood lead test",["Increased blood lead level"],[410172]],[410400,"Absent sebaceous glands",["Absence of sebaceous glands"],[32226]],[410401,"Worse in evening",[],[12823]],[430000,"Abnormal frontal bone morphology",["Abnormality of the bone of the forehead","Abnormality of the frontal bone","Abnormal morphology of frontal bone","Anomaly of the frontal bone","Deformity of the frontal bone","Malformation of the frontal bone"],[2683]],[430002,"Abnormal lacrimal bone morphology",["Anomaly of the lacrimal bone","Deformity of the lacrimal bone","Malformation of the lacrimal bone"],[11821]],[430003,"Abnormal palatine bone morphology",["Abnormality of the palatine bone","Anomaly of the palatine bone","Deformity of the palatine bone","Malformation of the palatine bone"],[11821]],[430004,"Frontomalar faciosynostosis",[],[11821]],[430005,"Abnormal ethmoid bone morphology",["Abnormality of ethmoid bone","Anomaly of the ethmoid bone","Deformity of the ethmoid bone","Malformation of the ethmoid bone"],[11821]],[430006,"Ectopic cilia of eyelid",[],[499]],[430007,"Symblepharon",["Eyelid adhesion to globe of eye","Eyelid stuck to eyeball"],[492]],[430008,"Accessory eyelid",["Extra eyelid","Double eyelid"],[492]],[430009,"Hypoplasia of eyelid",["Small eyelid","Decreased size of eyelid","Hypoplasia of the eyelid","Hypoplastic eyelid","Underdevelopment of eyelid","Short eyelid"],[11226]],[430010,"Microblepharia",["Abnormally small eyelid"],[492]],[430011,"Defect of palpebral conjunctiva",[],[502]],[430012,"Incomplete ossification of palatine bone",["Incomplete calcification of palatine bone","Incomplete mineralization of palatine bone","Incomplete formation of palatine bone"],[430003]],[430013,"Absent palatine bone ossification",["Absence of palatine bone calcification","Absence of palatine bone mineralization","Absence of palatine bone formation"],[430003]],[430014,"Abnormality of musculature of soft palate",["Abnormality of soft palate muscles"],[40286,100736]],[430015,"Abnormal morphology of musculature of pharynx",["Abnormality of muscles of the pharynx","Abnormality of musculature of pharynx","Abnormality of pharyngeal musculature","Abnormality of pharynx musculature"],[33151,40286]],[430016,"Abnormality of tensor veli palatini muscle",[],[430014]],[430017,"Abnormality of uvular muscle",["Abnormality of musculus uvulae"],[172,430014]],[430018,"Abnormality of nasal musculature",["Abnormality of muscle of nose","Abnormality of musculature of the nose"],[301]],[430019,"Abnormality of muscle of facial expression",["Abnormality of musculature of facial expression"],[301]],[430020,"Abnormality of levator labii superioris alaeque nasi muscle",[],[430019]],[430021,"Abnormal common carotid artery morphology",["Abnormality of the common carotid artery"],[5344]],[430022,"Abnormality of the sphenoid sinus",["Abnormality of the sphenoidal sinus"],[245]],[430023,"Abnormality of the maxillary sinus",["Abnormality of the antrum of Highmore","Abnormality of the maxillary antrum","Abnormality of the upper jaw sinus"],[245]],[430024,"Abnormality of external jugular vein",[],[3000042]],[430025,"Bilateral facial palsy",["Bilateral facial muscle paralysis","Bilateral facial muscle weakness","Bilateral facial paralysis","Paralysis of both sides of the face","Weakness of both sides of the face"],[10628]],[430028,"Hyperplasia of the maxilla",["Big maxilla","Big upper jaw","Hyperplasia of upper jaw","Increased size of maxilla","Increased size of upper jaw","Large maxilla","Large upper jaw","Maxillary excess","Maxillary hyperplasia","Maxillary macrognathia","Maxillary prominence","Prominent maxilla","Prominent upper jaw","Upper jaw bone excess","Upper jaw excess","Increased projection of maxilla","Increased projection of upper jaw","Hypertrophy of maxilla","Hypertrophy of upper jaw","Maxillary prognathia","Prognathia of the upper jaw"],[326]],[430029,"Hyperplasia of the premaxilla",["Hyperplasia of the intermaxillary bone","Hyperplasia of the primary palate bone","Increased size of premaxilla","Increased size of the primary palate bone","Large premaxilla","Large primary palate bone","Premaxillary excess","Primary palate bone excess"],[10758]],[430030,"Positive infectious agent test",[],[1939]],[430031,"Aqueous humor viral DNA positivity",[],[430030]],[430032,"Electronic cigarette exposure history",["Electronic cigarette or vape use","Vaping"],[430133]],[430033,"Gottron sign",[],[12733]],[430034,"Hypertension resistant to conventional therapy",["Resistant hypertension"],[822]],[430035,"Tibiofibular interosseous membrane calcification",["Calcification of the interosseous membrane of leg","Calcification of the middle tibiofibular joint"],[100491]],[430036,"Supracondylar elbow fracture",[],[41219]],[430037,"Abnormal alcohol consumption",[],[30858]],[430043,"Thoracic lordosis",[],[10674]],[430044,"Radiation into left arm",[],[12836]],[430045,"Radiation into right arm",[],[12836]],[430046,"Small joint hypermobility",[],[1382]],[430047,"Large joint hypermobility",[],[1382]],[430048,"Intracranial calcification",["Intracranial calcifications","Brain calcification"],[10766]],[430050,"Anti-thyroid antibody positivity",["Antithyroid antibody positivity"],[30057]],[430051,"Bloodstream pathogen-specific antibody positivity",[],[430150]],[430052,"Anti-SARS-CoV-2 coronavirus antibody positivity",[],[430059]],[430053,"Anti-West Nile virus antibody positivity",[],[430059]],[430054,"Anti-microfilaria antibody positivity",[],[430060]],[430055,"Anti-trypanosoma cruzi antibody positivity",[],[430060]],[430056,"Anti-chikungunya virus antibody positivity",[],[430059]],[430057,"Anti-chlamydia psittaci antibody positivity",[],[430061]],[430058,"Anti-herpes simplex antibody positivity",["HSV antibody titer high in blood"],[430059]],[430059,"Bloodstream virus-specific antibody positivity",[],[430051]],[430060,"Bloodstream parasite-specific antibody positivity",[],[430051]],[430061,"Bloodstream antibacterial antibody positivity",[],[430051]],[430062,"Anti-Japanese encephalitis virus-specific antibody positivity",[],[430059]],[430063,"Anti-chlamydia trachomatis-specific antibody positivity",[],[430061]],[430064,"Anti-Epstein-Barr virus-specific antibody positivity",[],[430059]],[430065,"Anti-babesia-specific antibody positivity",[],[430060]],[430066,"Anti-Zikavirus-specific antibody positivity",[],[430059]],[430067,"Positive bloodstream nucleic acid pathogen test",[],[430150]],[430068,"Positive microfilaria PCR test in the blood circulation",[],[430067]],[430069,"Positive JC-virus PCR test in the blood circulation",["JC virus PCR in blood positive"],[430067]],[430070,"Placenta previa",["Placenta praevia"],[100767]],[430071,"Abnormal circulating organic compound concentration",[],[32180]],[430072,"Abnormal circulating beta-carotene concentration",["Abnormal beta-carotene level"],[3119]],[430073,"Decreased circulating beta-carotene concentration",[],[430072]],[430074,"Increased circulating beta-carotene concentration",[],[430072]],[430075,"Mammary blocked duct",["Galactocele","Lactation duct obstruction"],[31094]],[430076,"Bloodstream antifungal antibody positivity",[],[430051]],[430077,"Anti-coccidioidal antibody positivity",["Coccidioidal antibodies present in blood"],[430076]],[430078,"Anti-cryptococcal antibody positivity",[],[430076]],[430079,"Anti-mycoplasma antibody positivity",[],[430061]],[430080,"Anti-rickettsial antibody positivity",[],[430061]],[430081,"Anti-Bartonella henselae antibody positivity",["Bartonella henselae antibody titer high in blood"],[430061]],[430082,"Anti-Dengue virus antibody positivity",["Dengue antibody titer high in blood"],[430059]],[430083,"Anti-arbovirus antibody positivity",[],[430059]],[430084,"Anti-lymphocytic choriomeningitis antibody positivity",["Lymphocytic choriomeningitis virus antibody titer high in blood"],[430059]],[430085,"Anti-varicella-zoster antibody positivity",["Varicella-zoster antibody titer high in blood"],[430059]],[430086,"Anti-rubella antibody positivity",["Rubella antibody titer high in blood"],[430059]],[430087,"Anti-cytomegalovirus antibody positivity",["CMV antibody titer high in blood"],[430059]],[430088,"Anti-measles antibody positivity",["Measles antibody titer high in blood"],[430059]],[430089,"Anti-schistosoma antibody positivity",["Schistosoma antibody titer high in blood"],[430060]],[430090,"Anti-Powassan virus antibody positivity",["Anti-Powassan encephalitis virus antibody positivity","Powassan encephalitis antibody titer high in blood"],[430083]],[430091,"Marker expression",[],[20228]],[430092,"BCL2 expression",[],[430091]],[430093,"BCL6 expression",[],[430091]],[430094,"CD5 expression",[],[430091]],[430095,"CD10 expression",[],[430091]],[430096,"CD23 expression",[],[430091]],[430097,"CD38 expression",[],[430091]],[430098,"CD45 expression",[],[430091]],[430099,"Cyclin D1 expression",[],[430091]],[430100,"FMC7 expression",[],[430091]],[430101,"CD19 expression",[],[430091]],[430102,"CD20 expression",[],[430091]],[430103,"Past surgical history",[],[32443]],[430104,"Abnormal superficial temporal artery morphology",[],[11004]],[430105,"Skip lesions on temporal artery biopsy",[],[430104]],[430106,"Abnormal brain-evoked potentials",[],[30178]],[430107,"Sputum infectious agent",[],[430151]],[430108,"Positive Mycobacterium avium sputum culture",[],[430107]],[430109,"Positive bloodstream infectious agent antigen test",[],[430150]],[430110,"Positive bloodstream Cysticercosis antigen test",[],[430109]],[430111,"Klazomania",[],[4000074]],[430112,"Coprolalia",[],[4000074]],[430113,"Continuous involuntary vocalizations",[],[4000074]],[430114,"Aplasia/hypoplasia of the uterine cervix",[],[12888]],[430115,"Cervical hypoplasia",[],[430114]],[430116,"Primary peritoneal serous papillary adenocarcinoma",[],[34930]],[430117,"Positive skin infectious agent test",[],[430030]],[430118,"Positive skin fungus test",["Positive KOH test for fungi"],[430117]],[430119,"Nasal secretion eosinophilia",["Eosinophils predominate in nasal discharge"],[31416]],[430120,"Nasal secretion neutrophilia",[],[31416]],[430121,"Seminal vesicle agenesis",["Absent seminal vesicles"],[6000190]],[430122,"Head impulse test has corrective saccade",[],[7670]],[430123,"Positive CSF infectious agent test",[],[430030]],[430124,"Positive CSF toxoplasma gondii nucleic acid test",["Positive CSF toxoplasma gondii PCR"],[430140]],[430125,"Elevated circulating plasminogen activator inhibitor 1 activity",[],[430126]],[430126,"Abnormal circulating plasminogen activator inhibitor 1 activity",[],[40224]],[430127,"Brain localization",[],[12836]],[430128,"Frontal cortical localization",[],[430127]],[430129,"Posterior fossa localization",[],[430127]],[430130,"Subcortical localization",[],[430127]],[430131,"Parietal cortex localization",[],[430127]],[430132,"Occipital cortex localization",[],[430127]],[430133,"Tobacco use history",[],[4000110]],[430134,"Bartholin cyst",["Bartholin duct cyst","Vulvar cyst"],[12881]],[430135,"Abnormal circulating hepatic transaminase concentration",["Abnormal circulating hepatic transaminase activity"],[12379]],[430136,"Reduced circulating aspartate aminotransferase concentration",[],[430135]],[430137,"Elevated urine succinic acid level",["Succinic acid high in urine"],[3215]],[430138,"Positive CSF varicella zoster virus nucleic acid test",["Positive CSF varicella zoster virus PCR","Varicella zoster virus PCR in CSF positive"],[430140]],[430139,"CSF pathogen-specific antibody positivity",[],[430123]],[430140,"Positive CSF nucleic acid pathogen test",[],[430123]],[430141,"CSF varicella zoster antibody positivity",["Anti-VZV IgG antibodies in CSF"],[430139]],[430142,"Reduced circulating interleukin 6 concentration",["IL-6 low in blood"],[6000441]],[430143,"Elevated circulating C12 acylcarnitine concentration",[],[35017]],[430144,"Frontalis muscle overactivity",[],[3000004]],[430145,"Nasal dermoid cyst",[],[5105]],[430146,"Elevated circulating complement C3 concentration",[],[6000474]],[430147,"Abnormal circulating inhibin B concentration",[],[31099]],[430148,"Abnormal circulating lipoprotein(a) concentration",[],[10980]],[430150,"Positive blood infectious agent test",[],[430030]],[430151,"Positive respiratory tract infectious agent test",[],[430030]],[500001,"Body odor",["BO","Bromhidrosis","Bromidrosis","Osmidrosis"],[25142]],[500005,"Anal pain",["Anorectal pain","Proctalgia","Rectal pain"],[12531]],[500006,"Urethritis",[],[795]],[500007,"Iris flocculi",[],[525]],[500008,"Cornea verticillata",["Vortex keratopathy"],[481]],[500009,"Dysplastic gangliocytoma of the cerebellum",["LDD","Lhermitte-Duclos disease"],[1317]],[500011,"Moon facies",["Moon face","Puffy face","Puffy facies"],[1999]],[500012,"Abnormal gonadotropin-releasing hormone concentration",["Abnormality of GnRH level","Abnormality of gonadotropin-releasing hormone level"],[3117]],[500013,"Lack of gonadotropin-releasing hormone pulsatility",["Absence of GnRH pulsatility"],[500012]],[500015,"Abnormal cardiac test",[],[1626]],[500016,"Abnormal cardiac MRI",["Abnormal cardiac magnetic resonance imaging","Abnormal heart MRI"],[500015]],[500017,"Abnormal cardiac catheterization",["Abnormal cardiac cath"],[500015]],[500018,"Abnormal cardiac exercise stress test",["Abnormal exercise test","Abnormal cardiac exercise test","Abnormal treadmill test"],[500015]],[500019,"Abnormal resting energy expenditure from metabolic cart test",["Abnormal metabolic cart test"],[500015]],[500020,"Abnormal cardiac biomarker test",[],[500015]],[500021,"Reduced brain gamma-aminobutyric acid level by MRS",[],[12705]],[500022,"Abnormal circulating dehydroepiandrosterone concentration",["Abnormal serum DHEA","Abnormal serum androstenolone level","Abnormal serum dehydroepiandrosterone level"],[30347]],[500023,"Shoulder muscle aplasia",["Absent shoulder muscle"],[1464]],[500024,"Aplasia of the musculature of the pelvis",[],[1471]],[500026,"Hypoplasia of the musculature of the pelvis",[],[1471]],[500027,"Aplastic colon",["Absence of the colon","Aplasia of the colon"],[100811]],[500028,"Cotton wool plaques",["CWPs"],[100256]],[500030,"Abnormal hepatic glycogen storage",[],[31137]],[500031,"Sclerosis of the carpal bones",[],[4054]],[500032,"Abnormal neuron branching",["Aberrant neuronal branching","Abnormal neuronal branching"],[12757]],[500033,"Abnormal natural killer subset distribution",[],[12176]],[500034,"Nasolacrimal sac obstruction",[],[3000066]],[500035,"Nasolacrimal sac granuloma",[],[500034]],[500036,"Nasolacrimal sac papilloma",[],[500035]],[500037,"Nasolacrimal sac epithelial papillary carcinoma",[],[3000066]],[500039,"Conjunctival cicatrization",["Cicatricial conjunctivitis","Cicatrizating conjunctivitis","Conjunctival cicatricial conjunctivitis"],[30947]],[500040,"Dermolipoma of the conjunctiva",["Conjunctival lipodermoid"],[500039]],[500041,"Myopic astigmatism",[],[483]],[500042,"Latent hypermetropia",["Latent hyperopia"],[8499]],[500043,"Eyelid retraction",[],[492]],[500044,"Upper eyelid retraction",[],[500043]],[500045,"Collier's sign",[],[500044]],[500046,"Seborrhoeic blepharitis",[],[25610]],[500047,"Nasolacrimal sac lymphoma",[],[3000066]],[500048,"Delayed canalization of nasolacrimal duct",[],[579]],[500049,"Retinopathy of prematurity",[],[488]],[500050,"Retinopathy of prematurity stage 1",["ROP stage 1"],[500049]],[500051,"Retinopathy of prematurity stage 2",["ROP stage 2"],[500049]],[500052,"Retinopathy of prematurity stage 3",["ROP stage 3"],[500049]],[500053,"Retinopathy of prematurity stage 4",["ROP stage 4"],[500049]],[500054,"Retinopathy of prematurity stage 4a",["ROP stage 4a"],[500053]],[500055,"Retinopathy of prematurity stage 4b",["ROP 4b"],[500053]],[500056,"Retinopathy of prematurity stage 5",["ROP stage 5"],[500049]],[500057,"Retinopathy of prematurity stage 5a",["ROP stage 5a"],[500056]],[500058,"Retinopathy of prematurity stage 5b",["ROP stage 5b"],[500056]],[500059,"Retinopathy of prematurity zone I",["ROP zone 1"],[500049]],[500060,"Retinopathy of prematurity zone II",["ROP zone II"],[500049]],[500061,"Retinopathy of prematurity zone III",["ROP zone III"],[500049]],[500062,"Retinopathy of prematurity plus",["ROP plus"],[500049]],[500063,"Retinopathy of prematurity pre-plus",["ROP pre-plus"],[500049]],[500064,"Retinopathy of prematurity threshold",["ROP threshold"],[500049]],[500065,"Retinopathy of prematurity prethreshold",["ROP prethreshold"],[500049]],[500066,"Latent myopia",[],[545]],[500069,"Paralytic ectropion",[],[656]],[500070,"Conjunctival dermolipoma",[],[502]],[500072,"Absolute eccentric fixation",[],[25549]],[500073,"Abnormal ocular alignment",[],[496]],[500074,"Dissociated vertical deviation",[],[500073]],[500075,"Dissociated horizontal deviation",[],[500073]],[500076,"Alternating hypertropia",[],[25586]],[500077,"Alternating hyperphoria",[],[25585]],[500078,"Alternating hypotropia",[],[25584]],[500079,"Alternating hypophoria",[],[31725]],[500081,"Pseudophakia",[],[517]],[500086,"Optic nerve gray crescent",["Optic nerve grey crescent","Temporal gray pigmentary crescent","Temporal grey pigmentary crescent"],[12511]],[500087,"Peripapillary atrophy",[],[12512]],[500089,"Optic nerve sheath meningioma",[],[2858]],[500090,"Periocular capillary hemangioma",["Peri-ocular capillary hemangioma"],[5306]],[500091,"Lymphangioma of the orbit",[],[30670,100764]],[500092,"Orbital rhabdomyosarcoma",[],[2859]],[500093,"Food allergy",["Allergic reaction to foods","IgE-mediated food allergy","Immunoglobulin E-mediated food allergy","Reaction to food allergens"],[12393]],[500094,"Latex allergy",[],[12393]],[500095,"Food-induced anaphylaxis",[],[100845]],[500096,"Venom-induced anaphylaxis",[],[100845]],[500097,"Stool xenobiotic",[],[31838]],[500098,"Meconium xenobiotic",[],[500097]],[500099,"Hair xenobiotic",[],[31838]],[500100,"Plasma/serum xenobiotic",[],[410172]],[500101,"Gastric fluid xenobiotic",[],[31838]],[500104,"Decreased diastolic blood pressure",["Decreased diastolic BP","Reduced diastolic blood pressure"],[2615]],[500105,"Decreased systolic blood pressure",["Decreased systolic BP","Reduced systolic blood pressure"],[2615]],[500106,"Isolated systolic hypertension",[],[4421]],[500107,"Isolated diastolic hypotension",[],[500104]],[500108,"Positive urine cocaine test",[],[31840]],[500109,"Positive urine barbiturate test",[],[31840]],[500110,"Positive urine cannabinoid test",["Positive urine marijuana test","Positive urine pot test"],[31840]],[500111,"Positive urine benzodiazepines test",[],[31840]],[500112,"Positive urine amphetamine test",[],[31840]],[500113,"Positive urine opioid test",[],[31840]],[500114,"Abnormal stool urobilinogen concentration",[],[31685]],[500115,"Increased stool urobilinogen concentration",[],[500114]],[500116,"Positive blood barbiturate test",[],[410172]],[500117,"Abnormal CSF urate concentration",[],[25454]],[500132,"Hypovalinemia",["Decreased valine concentration","Decreased valine level","Decreased valine level in blood","Low blood valine concentration","Reduced valine concentration","Reduced valine level","Reduced valine level in blood"],[10914]],[500133,"Hypotyrosinemia",["Decreased tyrosine concentration","Decreased tyrosine in blood","Decreased tyrosine level","Decreased tyrosine level in blood","Low blood tyrosine concentration","Reduced tyrosine concentration","Reduced tyrosine level","Reduced tyrosine level in blood"],[10917]],[500134,"Hypertryptophanemia",["Elevated tryptophan concentration","Elevated tryptophan level","Elevated tryptophan level in blood","High blood tryptophan concentration","Increased tryptophan concentration","Increased tryptophan in blood","Increased tryptophan level","Increased tryptophan level in blood"],[4365]],[500135,"Hypotryptophanemia",["Decreased tryptophan concentration","Decreased tryptophan in blood","Decreased tryptophan level","Decreased tryptophan level in blood","Low blood tryptophan concentration","Reduced tryptophan concentration","Reduced tryptophan level","Reduced tryptophan level in blood"],[4365]],[500136,"Hypothreoninemia",["Decreased circulating threonine levels","Decreased threonine blood levels","Decreased threonine concentration","Decreased threonine level","Decreased threonine level in blood","Low blood threonine concentration","Reduced threonine concentration","Reduced threonine level","Reduced threonine level in blood"],[10900]],[500138,"Hyperserinemia",["Elevated circulating serine levels","Elevated serine concentration","Elevated serine level","Elevated serine level in blood","High blood serine levels","Increased serine blood concentration","Increased serine concentration","Increased serine level","Increased serine level in blood"],[12278]],[500139,"Hypoprolinemia",["Decreased blood proline levels","Decreased proline concentration","Decreased proline level","Decreased proline level in blood","Low blood proline concentration","Reduced proline concentration","Reduced proline level","Reduced proline level in blood"],[10907]],[500140,"Decreased circulating hydroxyproline concentration",["Decreased hydroxyproline in the blood","Low level of hydroxyproline in the blood"],[10907]],[500141,"Hypophenylalaninemia",["Decreased blood phenylalanine","Decreased phenylalanine concentration","Decreased phenylalanine level","Decreased phenylalanine level in blood","Low blood phenylalanine","Reduced phenylalanine concentration","Reduced phenylalanine level","Reduced phenylalanine level in blood"],[10893]],[500142,"Hypolysinemia",["Decreased blood lysine","Decreased lysine concentration","Decreased lysine level","Decreased lysine level in blood","Low blood lysine levels","Reduced lysine concentration","Reduced lysine level","Reduced lysine level in blood"],[10908]],[500143,"Hypoleucinemia",["Decreased blood concentration of leucine","Decreased leucine concentration","Decreased leucine level","Decreased leucine level in blood","Low blood leucine levels","Reduced leucine concentration","Reduced leucine level","Reduced leucine level in blood"],[4357]],[500144,"Hypoisoleucinemia",["Decreased blood isoleucine concentration","Decreased isoleucine concentration","Decreased isoleucine level","Decreased isoleucine level in blood","Low blood isoleucine levels","Reduced isoleucine concentration","Reduced isoleucine level","Reduced isoleucine level in blood"],[10912]],[500145,"Hypohistidinemia",["Decreased blood histidine concentration","Decreased histidine concentration","Decreased histidine level","Decreased histidine level in blood","Low blood histidine levels","Reduced histidine concentration","Reduced histidine level","Reduced histidine level in blood"],[10904]],[500147,"Hypoglutaminemia",["Decreased blood glutamine concentration","Decreased glutamine concentration","Decreased glutamine level","Decreased glutamine level in blood","Low blood glutamine level","Reduced glutamine concentration","Reduced glutamine level","Reduced glutamine level in blood"],[10903]],[500148,"Abnormal circulating glutamate concentration",["Abnormality of glutamate metabolism"],[10902]],[500149,"Hyperglutamatemia",["High blood glutamate levels","Increased blood glutamate concentration","Increased level of L-glutamic acid in blood"],[500148]],[500150,"Hypoglutamatemia",["Decreased blood glutamate concentrations","Low blood glutamate levels"],[500148]],[500151,"Hypercystinemia",["Elevated cystine concentration","Elevated cystine level","Elevated cystine level in blood","High blood cystine levels","Increased blood cystine concentration","Increased cystine concentration","Increased cystine level","Increased cystine level in blood"],[10918]],[500152,"Hypocystinemia",["Decreased blood cystine concentration","Decreased cystine concentration","Decreased cystine level","Decreased cystine level in blood","Low blood cystine levels","Reduced cystine concentration","Reduced cystine level","Reduced cystine level in blood"],[10918]],[500153,"Hyperargininemia",["High blood arginine levels","Increased blood arginine concentration"],[10909]],[500154,"Hypoalaninemia",["Decreased blood alanine concentration","Low blood alanine levels"],[10916]],[500155,"Abnormal circulating asparagine concentration",["Abnormal asparagine level","Abnormality of asparagine metabolism"],[10899]],[500156,"Hyperasparaginemia",["Elevated asparagine concentration","Elevated asparagine level","Elevated asparagine level in blood","High blood asaparagine levels","Increased asparagine concentration","Increased asparagine level","Increased asparagine level in blood","Increased blood asparagine concentration"],[500155]],[500157,"Hypoasparaginemia",["Decreased asparagine concentration","Decreased asparagine level","Decreased asparagine level in blood","Decreased blood asparagine concentration","Low blood asparagine levels","Reduced asparagine concentration","Reduced asparagine level","Reduced asparagine level in blood"],[500155]],[500158,"Abnormal circulating aspartic acid concentration",["Abnormal aspartic acid level","Abnormal circulating aspartate concentration"],[10899]],[500159,"Elevated circulating aspartic acid concentration",["Elevated aspartic acid concentration","Elevated aspartic acid level","Elevated aspartic acid level in blood","High blood aspartic acid levels","Increased aspartic acid concentration","Increased aspartic acid level","Increased aspartic acid level in blood","Increased blood aspartic acid","Increased level of circulating aspartic acid"],[500158]],[500160,"Abnormal circulating carnosine concentration",["Abnormality of carnosine metabolism"],[4354]],[500161,"Increased circulating carnosine concentration",["High blood carnosine levels","Increased blood carnosine concentration","Increased level of carnosine in blood"],[500160]],[500162,"Decreased circulating carnosine concentration",["Decreased blood carnosine concentration","Decreased level of carnosine in blood","Low blood carnosine levels"],[500160]],[500163,"Hypoornithinemia",["Decreased blood ornithine concentrations","Decreased ornithine concentration","Decreased ornithine level","Decreased ornithine level in blood","Low blood ornithine levels","Reduced ornithine concentration","Reduced ornithine level","Reduced ornithine level in blood"],[12025]],[500164,"Abnormal blood carbon dioxide level",["Abnormal CO2 levels in blood"],[12415]],[500165,"Abnormal blood oxygen level",["Abnormal O2 blood concentration","Abnormal blood O2 level","Abnormal blood oxygen levels"],[12415]],[500166,"Abnormal circulating gastrin concentration",["Abnormal circulating gastrin level"],[3117]],[500167,"Hypergastrinemia",["Elevated gastrin in the blood","Increased blood gastrin"],[500166]],[500170,"Abnormal concentration of acylcarnitine in the urine",[],[33354]],[500173,"Reflex asystolic syncope",["Reflex anoxic seizure","Reflex anoxic seizures"],[1279]],[500180,"Abnormal circulating amino sulfonic acid concentration",["Abnormal amino sulfonic acid level"],[33405]],[500181,"Hypertaurinemia",["Elevated serum taurine levels","Increased circulating taurine levels in the blood"],[500180]],[500182,"Hypotaurinemia",["Decreased circulating taurine levels","Lower blood levels of taurine","Reduced taurine levels in the blood"],[500180]],[500183,"Abnormal CSF carboxylic acid concentration",[],[25454]],[500184,"Abnormal CSF amino acid concentration",["Abnormal CSF amino acid level","Abnormal amino acid levels in cerebrospinal fluid","Abnormal cerebrospinal fluid amino acid level"],[500183]],[500185,"Abnormal CSF branched chain amino acid concentration",["Abnormal branched-chain amino acid levels in cerbrospinal fluid"],[500184]],[500186,"Abnormal CSF valine concentration",["Abnormal valine levels in cerebrospinal fluid"],[500185]],[500187,"Increased CSF valine concentration",["High valine levels in cerebrospinal fluid"],[500186]],[500188,"Decreased CSF valine concentration",["Low valine levels in cerebrospinal fluid"],[500186]],[500189,"Abnormal CSF leucine concentration",["Abnormal leucine levels in cerebrospinal fluid"],[500185]],[500190,"Decreased CSF leucine concentration",["Low leucine levels in cerebrospinal fluid"],[500189]],[500191,"Increased CSF leucine concentration",["High leucine levels in cerebrospinal fluid"],[500189]],[500192,"Abnormal CSF isoleucine concentration",["Abnormal isoleucine levels in cerebrospinal fluid"],[500185]],[500193,"Increased CSF isoleucine concentration",["High levels of isoleucine in cerebrospinal fluid"],[500192]],[500194,"Decreased CSF isoleucine concentration",["Low levels of isoleucine in cerebrospinal fluid"],[500192]],[500195,"Abnormal CSF glutamine family amino acid concentration",["Abnormal glutamine family amino acid levels in cerebrospinal fluid"],[500184]],[500196,"Abnormal CSF glutamine concentration",["Abnormal glutamine levels in cerebrospinal fluid"],[500195]],[500197,"Increased CSF glutamine concentration",["High glutamine levels in cerebrospinal fluid"],[500196]],[500198,"Decreased CSF glutamine concentration",["Low glutamine levels in cerebrospinal fluid"],[500196]],[500199,"Abnormal CSF glutamate concentration",["Abnormal glutamic acid levels in cerebrospinal fluid"],[500195]],[500200,"Increased CSF glutamate concentration",["High glutamic acid levels in cerebrospinal fluid"],[500199]],[500201,"Decreased CSF glutamate concentration",["Low glutamic acid levels in cerebrospinal fluid"],[500199]],[500202,"Abnormal CSF arginine concentration",["Abnormal arginine levels in cerebrospinal fluid"],[500195]],[500203,"Increased CSF arginine concentration",["High arginine levels in cerebrospinal fluid"],[500202]],[500204,"Decreased CSF arginine concentration",["Low arginine levels in cerebrospinal fluid"],[500202]],[500205,"Abnormal CSF aspartate family amino acid concentration",["Abnormal aspartate-family amino acid levels in cerebrospinal fluid"],[500184]],[500206,"Abnormal CSF lysine concentration",["Abnormal lysine levels in cerebrospinal fluid"],[500205]],[500207,"Decreased CSF lysine concentration",["Low lysine levels in cerebrospinal fluid"],[500206]],[500208,"Increased CSF lysine concentration",["High lysine levels in cerebrospinal fluid"],[500206]],[500209,"Abnormal CSF methionine concentration",["Abnormal methionine levels in cerebrospinal fluid"],[500205]],[500210,"Increased CSF methionine concentration",["High methionine levels in cerebrospinal fluid"],[500209]],[500211,"Abnormal CSF threonine concentration",["Abnormal threonine levels in cerebrospinal fluid"],[500205]],[500212,"Increased CSF threonine concentration",["High threonine levels in cerebrospinal fluid"],[500211]],[500213,"Decreased CSF threonine concentration",["Low threonine levels in the cerebrospinal fluid"],[500211]],[500214,"Abnormal CSF aromatic amino acid concentration",["Abnormal aromatic amino acid levels in cerebrospinal fluid"],[500184]],[500215,"Abnormal CSF phenylalanine concentration",["Abnormal phenylalanine levels in cerebrospinal fluid"],[500214]],[500216,"Abnormal CSF aspartate concentration",["Abnormal CSF aspartic acid concentration","Abnormal aspartic acid levels in cerebrospinal fluid"],[500205]],[500217,"Increased CSF aspartate concentration",["High aspartic acid levels in cerebrospinal fluid","Increased CSF aspartic acid concentration"],[500216]],[500218,"Abnormal CSF tryptophan concentration",["Abnormal tryptophan levels in cerebrospinal fluid"],[500214]],[500219,"Abnormal CSF tyrosine concentration",["Abnormal tyrosine levels in cerebrospinal fluid"],[500214]],[500220,"Increased CSF tyrosine concentration",["High tyrosine levels in cerebrospinal fluid"],[500219]],[500221,"Decreased CSF tyrosine concentration",["Low tyrosine levels in the cerebrospinal fluid"],[500219]],[500222,"Increased CSF tryptophan concentration",["High tryptophan levels in cerebrospinal fluid"],[500218]],[500223,"Increased CSF phenylalanine concentration",["High phenylalanine levels in cerebrospinal fluid"],[500215]],[500224,"Decreased CSF phenylalanine concentration",["Low phenylalanine levels in cerebrospinal fluid"],[500215]],[500225,"Abnormal CSF serine family amino acid concentration",["Abnormal serine-family amino acid levels in cerebrospinal fluid"],[500184]],[500226,"Abnormal CSF serine concentration",["Abnormal serine levels in cerebrospinal fluid"],[500225]],[500227,"Increased CSF serine concentration",["High serine levels in cerebrospinal fluid"],[500226]],[500228,"Decreased CSF serine concentration",["Low serine levels in cerebrospinal fluid"],[500226]],[500229,"Abnormal CSF glycine concentration",["Abnormal glycine levels in cerebrospinal fluid"],[500225]],[500230,"Increased CSF glycine concentration",["High glycine levels in cerebrospinal fluid"],[500229]],[500231,"Abnormal CSF pyruvate family amino acid concentration",["Abnormal pyruvate-family amino acid levels in cerebrospinal fluid"],[500184]],[500232,"Abnormal CSF alanine concentration",["Abnormal alanine levels in cerebrospinal fluid"],[500231]],[500233,"Increased CSF alanine concentration",["High alanine levels in cerebrospinal fluid"],[500232]],[500234,"Decreased CSF alanine concentration",["Low alanine levels in cerebrospinal fluid"],[500232]],[500235,"Abnormal CSF histidine concentration",["Abnormal histidine levels in cerebrospinal fluid"],[500184]],[500236,"Increased CSF histidine concentration",["High histidine levels in cerebrospinal fluid"],[500235]],[500237,"Decreased CSF histidine concentration",["Low histidine levels in cerebrospinal fluid"],[500235]],[500238,"Abnormal CSF albumin concentration",["Abnormal albumin levels in cerebrospinal fluid"],[25456]],[500239,"Increased CSF albumin concentration",["High albumin levels in cerebrospinal fluid"],[500238]],[500240,"Abnormal CSF carnosine concentration",["Abnormal carnosine levels in cerebrospinal fluid"],[500184]],[500241,"Abnormal CSF homocarnosine concentration",["Abnormal homocarnosine levels in cerebrospinal fluid"],[500184]],[500242,"Increased CSF homocarnosine concentration",["High homocarnosine levels in cerebrospinal fluid"],[500241]],[500243,"Abnormal CSF ornithine concentration",["Abnormal ornithine levels in cerebrospinal fluid"],[500184]],[500244,"Increased CSF ornithine concentration",["High ornithine levels in cerebrospinal fluid"],[500243]],[500245,"Abnormal CSF citrulline concentration",["Abnormal citrulline levels in cerebrospinal fluid"],[500184]],[500246,"Increased CSF citrulline concentration",["High citrulline levels in cerebrospinal fluid"],[500245]],[500247,"Abnormal CSF alpha-aminobutyrate concentration",["Abnormal alpha-aminobutyrate levels in cerebrospinal fluid"],[500184]],[500248,"Increased CSF alpha-aminobutyrate concentration",["High alpha-aminobutyrate levels in cerebrospinal fluid"],[500247]],[500249,"Abnormal circulating ethanolamine concentration",["Abnormal ethanolamine levels in the blood"],[33405]],[500250,"Increased circulating ethanolamine concentration",["High ethanolamine levels in the blood"],[500249]],[500251,"Abnormal urine sebacic acid concentration",["Abnormal urine decanedioic acid concentration"],[33354]],[500252,"Increased urine sebacic acid concentration",["Increased urine decanedioic acid concentration"],[500251]],[500253,"Increased level of gamma-aminobutyric acid in urine",["Increased urinary excretion of gamma-aminobutyric acid (GABA)"],[33098]],[500254,"Abnormal urine hexanoylglycine concentration",["Abnormal urinary N-hexanoylglycine levels"],[33354]],[500255,"Increased level of hexanoylglycine in urine",["Elevated urinary N-hexanoylglycine concentration"],[500254]],[500256,"Abnormal urine isobutyrylglycine concentration",["Abnormal urinary isobutyrylglycine levels"],[12073]],[500257,"Increased urine isobutyrylglycine concentration",["High urinary isobutyrylglycine levels"],[500256]],[500258,"Abnormal carbon dioxide level in cord blood",["Abnormal CO2 level in cord blood","Abnormal umbilical cord blood levels of carbon dioxide"],[410211]],[500259,"Abnormal oxygen level in cord blood",["Abnormal O2 level in cord blood","Abnormal cord blood oxygen levels","Abnormal oxygen amount in umbilical cord blood"],[410211]],[500260,"Triggered by head trauma",["Head trauma triggered symptoms"],[31135]],[500261,"Triggered by anesthetics",["Anaesthetics trigger episodes","Anaesthetics triggered symptoms","Anesthetics trigger episodes","Anesthetics triggered symptoms","Triggered by anaesthetics"],[4000101]],[500262,"Atrichia",[],[11362]],[500265,"Increased CD8+ TEMRA T cell proportion",["Increased proportion of CD8-positive TEMRA T cells","Increased proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated"],[20177,410392]],[500266,"Decreased CD8+ TEMRA T cell proportion",["Decreased proportion effector memory CD8-positive, alpha-beta T cells, terminally differentiated","Decreased proportion of CD8-positive TEMRA T cells"],[20177,410385]],[500269,"Abnormal gamma-delta T cell proportion",["Abnormal proportion of gamma-delta T cells","Abnormal proportion of gamma-delta T lymphocytes","Abnormal proportion of gamma-delta T-lymphocytes","Abnormal proportion of gammadelta T cells"],[25540]],[500270,"Increased gamma-delta T cell proportion",["Elevated proportion of gamma-delta T cells","Increased proportion of gamma-delta T lymphocytes","Increased proportion of gamma-delta T-cells","Increased proportion of gamma-delta T-lymphocytes","Increased proportion of gammadelta T cells"],[500269]],[500271,"Decreased gamma-delta T cell proportion",["Decreased proportion of gamma-delta T lymphocytes","Decreased proportion of gamma-delta T-cells","Decreased proportion of gamma-delta T-lymphocytes","Decreased proportion of gammadelta T cells","Reduced proportion of gamma-delta T cells"],[500269]],[550003,"Proximal scleroderma",[],[100324]],[550004,"Verruca plana",["Flat wart"],[200043]],[550005,"Bilateral basilar pulmonary fibrosis",["Lung disease with systemic sclerosis","Scleroderma lung disease","Scleroderma of lung"],[2206]],[3000002,"Abnormal inner ear epithelium morphology",[],[11390]],[3000003,"Abnormal mandibular ramus morphology",["Abnormality of mandibular ramus"],[163,277]],[3000004,"Abnormal frontalis muscle physiology",[],[290,40172]],[3000005,"Abnormality of masseter muscle",[],[410011]],[3000006,"Abnormality of medial pterygoid muscle",[],[410011]],[3000007,"Abnormality of mentalis muscle",[],[306,430019]],[3000008,"Abnormality of mylohyoid muscle",[],[301,410012,410013]],[3000009,"Abnormality of nasalis muscle",[],[366,430018]],[3000010,"Abnormality of orbicularis oris muscle",[],[430019]],[3000011,"Abnormality of palatoglossus muscle",[],[40174,430014]],[3000012,"Abnormality of palatopharyngeus muscle",[],[430014,430015]],[3000013,"Abnormal platysma muscle morphology",["Abnormality of platysma","Abnormality of the platysma muscle"],[301,1574,11006]],[3000014,"Abnormality of procerus muscle",[],[366,430018]],[3000015,"Abnormality of risorius muscle",[],[4426,430019]],[3000016,"Abnormality of styloglossus muscle",[],[40174]],[3000017,"Abnormality of temporalis muscle",[],[410011]],[3000018,"Abnormality of zygomaticus major muscle",[],[4426,430019]],[3000019,"Abnormal buccal mucosa morphology",["Abnormality of buccal mucosa","Abnormality of cheek mucosa","Abnormality of inside lining of cheek"],[4426]],[3000020,"Abnormality of zygomaticus minor muscle",[],[4426,430019]],[3000021,"Abnormal buccal fat pad morphology",["Abnormality of buccal fat pad"],[4426]],[3000022,"Abnormal external ear cartilage morphology",["Abnormality of cartilage of external ear"],[377,2763]],[3000023,"Abnormality of angular artery",[],[3000024]],[3000024,"Abnormal facial artery morphology",["Abnormality of facial artery"],[11004]],[3000025,"Abnormality of ciliary ganglion",[],[410016]],[3000027,"Abnormality of buccinator muscle",[],[4426]],[3000028,"Abnormality of depressor anguli oris muscle",[],[430019]],[3000029,"Abnormality of depressor labii inferioris",["Abnormality of depressor labii inferioris muscle"],[306,430019]],[3000030,"Abnormal morphology of bony orbit of skull",["Abnormality of bones of the orbit of the skull","Abnormality of bony orbit of skull","Abnormality of the bony eye socket","Abnormality of the orbital bones of skull"],[315,929]],[3000031,"Abnormality of anterior ethmoidal artery",[],[410006]],[3000032,"Abnormality of central retinal artery",[],[410006]],[3000033,"Abnormal nasopharyngeal adenoid morphology",["Abnormality of adenoids","Abnormality of nasopharyngeal adenoids","Abnormality of nasopharyngeal tonsil","Abnormality of pharyngeal tonsil"],[1739,100765]],[3000034,"Abnormality nasal septum cartilage morphology",["Abnormality of cartilage of nasal septum","Abnormality of cartilage of septum of nose","Anomaly of cartilage of nasal septum","Deformity of cartilage of nasal septum","Malformation of cartilage of nasal septum"],[419,2763,10937]],[3000035,"Abnormality of cervical plexus",[],[410010]],[3000036,"Abnormal head blood vessel morphology",["Abnormality of blood vessel of head","Abnormality of head blood vessel","Abnormality of vasculature of head"],[234,25015]],[3000037,"Abnormal neck blood vessel morphology",["Abnormality of blood vessel of neck","Abnormality of neck blood vessel","Abnormality of the cervical blood vessels","Abnormality of the cervical vasculature","Abnormality of the vasculature of the neck"],[25015,25668]],[3000038,"Abnormal cricoid cartilage morphology",["Abnormality of cricoid cartilage"],[2763,25423]],[3000039,"Abnormality of dorsal nasal artery",[],[410006]],[3000040,"Abnormality of ethmoid sinus",["Abnormality of ethmoidal air cells"],[245]],[3000041,"Abnormal external carotid artery morphology",[],[5344]],[3000042,"Abnormal jugular vein morphology",["Abnormality of jugular vein"],[2624,3000037]],[3000043,"Abnormal facial vein morphology",["Abnormal vein of face","Abnormality of facial vein"],[2624,3000036,3000037]],[3000044,"Abnormality of frontal process of maxilla",[],[326]],[3000045,"Abnormality of genioglossus muscle",[],[40174]],[3000046,"Abnormal geniohyoid muscle morphology",[],[11006]],[3000047,"Abnormal glossopharyngeal nerve morphology",["Abnormality of glossopharyngeal nerve"],[1291,45010]],[3000048,"Abnormal great auricular nerve morphology",[],[45010]],[3000049,"Abnormal greater palatine artery morphology",["Abnormality of greater palatine artery"],[11004]],[3000050,"Abnormal odontoid tissue morphology",["Abnormality of hard tissues of teeth","Abnormality of odontoid tissue","Abnormality of tooth hard tissue"],[924,3549]],[3000051,"Abnormal hyoglossus muscle morphology",["Abnormality of hyoglossus muscle"],[30809,40286]],[3000052,"Abnormal hyoid bone morphology",["Abnormality of hyoid bone"],[11842]],[3000053,"Abnormal hypopharynx morphology",["Abnormality of hypopharynx","Abnormality of lower pharynx"],[33151]],[3000054,"Abnormal inferior alveolar artery morphology",[],[31816,3000036]],[3000055,"Abnormality of inferior alveolar nerve",[],[1291,45010]],[3000056,"Abnormality of artery of lower lip",["Abnormality of the inferior labial artery"],[3000024]],[3000057,"Abnormality of inferior oblique extraocular muscle",["Abnormality of the inferior oblique muscle"],[8049]],[3000058,"Abnormality of inferior rectus extraocular muscle",[],[8049]],[3000059,"Abnormal inferior thyroid vein morphology",["Abnormality of inferior thyroid vein"],[2624]],[3000060,"Abnormal infraorbital artery morphology",["Abnormality of infraorbital artery"],[25015]],[3000061,"Abnormality of infra-orbital nerve",["Abnormality of the infraorbital nerve"],[10824]],[3000062,"Abnormal internal carotid artery morphology",["Abnormality of internal carotid artery"],[5344,3000036]],[3000063,"Abnormality of internal jugular vein",[],[3000042]],[3000064,"Abnormality of intrinsic muscle of tongue",["Abnormality of intrinsic lingual muscle"],[40173]],[3000065,"Abnormal lacrimal artery morphology",["Abnormality of lacrimal artery"],[11004,3000036]],[3000066,"Abnormal lacrimal sac morphology",["Abnormality of lacrimal sac"],[614]],[3000067,"Abnormal lateral cricoarytenoid muscle morphology",["Abnormal anterior cricoarytenoid muscle morphology","Abnormality of lateral crico-arytenoid","Abnormality of lateral cricoarytenoid muscle"],[25423,25668,40286]],[3000068,"Abnormality of lateral pterygoid muscle",[],[410011]],[3000069,"Abnormality of lateral rectus extra-ocular muscle",[],[8049]],[3000070,"Abnormality of levator anguli oris",[],[430019]],[3000071,"Abnormality of levator labii superioris",[],[430019]],[3000072,"Abnormal levator palpebrae superioris morphology",[],[492,8049]],[3000073,"Abnormality of levator veli palatini muscle",[],[430014]],[3000074,"Abnormal lingual artery morphology",["Abnormality of lingual artery"],[11004,30809,3000036]],[3000075,"Abnormal lingual nerve morphology",["Abnormality of lingual nerve"],[45010]],[3000076,"Abnormality of lingual tonsil",[],[30809,100765]],[3000077,"Abnormal mandible condylar process morphology",["Abnormality of mandible condylar process"],[277,31816]],[3000078,"Abnormal mandible coronoid process morphology",["Abnormality of mandible coronoid process"],[277,31816]],[3000079,"Abnormal mandibular symphysis morphology",["Abnormality of mandible symphysis"],[1367,31816]],[4000001,"Abnormal cardiac magnetic resonance imaging finding",[],[1627]],[4000003,"Elevated myocardial native T2",[],[4000001]],[4000004,"Myocardial late gadolinium enhancement",["Delayed myocardial gadolinium enhancement"],[4000001]],[4000005,"Pericardial late gadolinium enhancement",[],[1697]],[4000006,"Elevated myocardial native T1",["Prolonged myocardial native T1"],[4000001]],[4000007,"Bronchoconstriction",["Bronchial constriction","Bronchospasm","Constriction of the bronchi"],[25427]],[4000008,"Formation of multiple pronuclei during fertilization",[],[33335]],[4000009,"Kinesiophobia",[],[5200232]],[4000010,"Impaired renal tubular reabsorption of bicarbonate",[],[11038]],[4000011,"History of congenital HPV infection",[],[33623]],[4000012,"Necrotizing ileitis",[],[32564]],[4000013,"Anti-desmoglein-1 antibody positivity",[],[30057]],[4000014,"Anti-desmoglein-3 antibody positivity",[],[30057]],[4000015,"Anti-envoplakin antibody positivity",[],[30057]],[4000016,"Anti-periplakin antibody positivity",[],[30057]],[4000017,"Anti-desmoplakin I antibody positivity",[],[30057]],[4000018,"Anti-desmoplakin II antibody positivity",[],[30057]],[4000019,"Anti-BP230 antibody positivity",[],[30057]],[4000020,"Anti-BP180 antibody positivity",[],[30057]],[4000021,"Anti-laminin 332 antibody positivity",["Anti-laminin 5 antibody positivity"],[4000024]],[4000022,"Anti-laminin 6 antibody positivity",[],[4000024]],[4000023,"Anti-laminin gamma1 antibody positivity",[],[4000024]],[4000024,"Anti-laminin antibody positivity",[],[30057]],[4000025,"Anti-integrin antibody positivity",[],[30057]],[4000026,"Anti-transglutaminase 6 antibody",[],[33563]],[4000027,"Anti-LAD-1 antibody positivity",[],[30057]],[4000028,"Anti-LABD97 antibody positivity",[],[30057]],[4000029,"Antigliadin antibody positivity",["AGA autoantibodies"],[30057]],[4000030,"Anti-reticulin antibody positivity",[],[30057]],[4000031,"Anti-type VII collagen antibody",[],[30057]],[4000032,"False perception of self-motion",[],[1751]],[4000033,"Non-spinning vertigo",[],[1751]],[4000034,"Infection-associated lymphopenia",["Infection-associated lymphocytopenia"],[1888]],[4000035,"Primary obstructive megaureter",[],[72]],[4000036,"Encysted hydrocele of the cord",[],[34]],[4000037,"Congenital hydrocele",[],[34]],[4000038,"Infantile hydrocele",[],[34]],[4000039,"Decreased mucosal-associated invariant T cell proportion",["Decreased MAIT cell frequency","Reduced mucosal-associated invariant T cell proportion","Reduced proportion of mucosal-associated invariant T cells"],[20340]],[4000040,"Puerpural onset",[],[3674]],[4000041,"AA amyloidosis",[],[11034]],[4000042,"Fracture type",[],[12823]],[4000043,"Greenstick fracture",["Incomplete fracture"],[4000042]],[4000044,"Transverse fracture",[],[4000042]],[4000045,"Spiral fracture",[],[4000042]],[4000046,"Oblique fracture",[],[4000042]],[4000047,"Compression fracture",["Wedge fracture"],[4000042]],[4000048,"Comminuted fracture",[],[4000042]],[4000049,"Segmental fracture",[],[4000042]],[4000050,"Open fracture",["Compound fracture"],[4000042]],[4000051,"Closed fracture",[],[4000042]],[4000052,"Avulsion fracture",[],[4000042]],[4000053,"Displaced fracture",[],[4000042]],[4000054,"Exanthem",[],[988]],[4000055,"Intestinal inflammation",[],[4386]],[4000056,"Abnormal apoptosis",[],[11017]],[4000057,"Decreased FasL-mediated apoptosis",[],[4000056]],[4000058,"Glomerular proteinuria",[],[93]],[4000059,"Abnormal lung development",["Developmental pulmonary anomaly"],[2088]],[4000060,"Abnormal pulmonary alveolar system development",[],[33137,4000059]],[4000061,"Pancreatic alpha-cell hyperplasia",[],[4510]],[4000062,"3-4 metacarpal synostosis",["Fused third and fourth metacarpals","Middle and ring finger metacarpal synostosis","Synostosis of third and the fourth metacarpal bones"],[9706,9707]],[4000063,"Sleep related hallucination",[],[738,5200293]],[4000064,"Poor sleep",["Low-quality sleep","Poor sleep quality","Sleeping badly"],[2360]],[4000066,"Abnormal iliac artery morphology",[],[20317]],[4000067,"Iliac artery aneurysm",[],[4000066]],[4000068,"Abnormal interest",[],[708]],[4000069,"Persistent preoccupation with parts of objects",["Fixated interest in unusual objects","Fixated interest with parts of objects","Fixation with parts of objects"],[5200108]],[4000070,"Fixated interests",["Circumscribed interests","Restricted interests"],[31432]],[4000072,"Abnormal language feature",[],[34434]],[4000073,"Pronoun reversal",[],[4000072]],[4000074,"Involuntary vocalization",[],[11442]],[4000075,"Reduced frequency of facial expressions",[],[4000087]],[4000076,"Use of another person's body to communicate",["Hand-leading gesture","Hand-taking gestures"],[758]],[4000077,"Fixated interest with abnormal focus",["Unusual preoccupations"],[25785,4000070]],[4000078,"Fixated interest with abnormal intensity",[],[4000070]],[4000079,"Sensory seeking",[],[5200046]],[4000081,"Reduced production of gestures",[],[4000090]],[4000082,"Reduced cooperative play",["Reduced collaborative play"],[5200104,5200136]],[4000083,"Lack of interest in peers",["Ignores peers","Reduced desire to interact with peers","Reduced interest in other children"],[12760]],[4000084,"Reduced sharing of interests",[],[5200027]],[4000085,"Reduced object sharing",[],[5200027]],[4000087,"Abnormal communicative facial expressions",["Abnormal facial expression use"],[758]],[4000088,"Facial expressions that do not match the context",[],[4000087]],[4000089,"Abnormal quality of facial expression",["Atypical facial expressions"],[4000087]],[4000090,"Abnormal gesture use",["Abnormal communicative gesture use","Abnormal communicative gestures","Abnormal gestures"],[758]],[4000092,"Poor conversational reciprocity",["Failure of normal back-and-forth conversation"],[5200136]],[4000093,"Ectopic tooth eruption",[],[6292]],[4000094,"Corpus cavernosum hypoplasia",[],[100623]],[4000095,"Elevated circulating thymine concentration",[],[4353]],[4000100,"Positive lactose hydrogen breath test",[],[6000259]],[4000101,"Triggered by exposure to medication",["Triggered by medication exposure"],[25204]],[4000102,"Triggered by allopurinol",["Allopurinol exposure"],[4000101]],[4000103,"Ameliorated by oral zinc supplementation",["Zinc oral supplementation produces improvement"],[34536]],[4000104,"Curved dental root",["Dental roots curved"],[6486]],[4000105,"Abnormal four chamber view of the fetal heart",["Abnormal four chamber view"],[10948]],[4000106,"Spleen hamartoma",[],[10566]],[4000107,"Positive lupus band test",["Lupus band test positive"],[31538]],[4000108,"Bone marrow erythroid vacuolization",["Bone marrow: erythroid vacuolization"],[12130]],[4000109,"Triggered by electromagnetic field",["Electromagnetic field triggers symptoms"],[25204]],[4000110,"Exposure history",[],[32443]],[4000111,"Asbestos exposure",[],[4000110]],[4000112,"Medication history",[],[32443]],[4000113,"Aminoglycoside exposure",[],[4000112]],[4000114,"Statin exposure",[],[4000112]],[4000115,"Potassium-sparing diuretic exposure",[],[4000112]],[4000116,"Carbamazepine exposure",[],[4000112]],[4000117,"Valproate exposure",[],[4000112]],[4000118,"Hydralazine exposure",[],[4000112]],[4000119,"Calcium channel blocker exposure",["Calcium channel blocking drug use"],[4000112]],[4000120,"Triggered by nickel",["Contact with nickel"],[25204]],[4000121,"Triggered by poison ivy, poson oak, or sumac",["Contact with poison ivy, poison oak, or sumac"],[25204]],[4000122,"History of exclusive breast feeding",["Breast feeding, exclusive"],[32443]],[4000123,"Nutrition history",[],[32443]],[4000124,"High dietary oxalate intake",["Foods high in oxalate, high intake"],[4000123]],[4000125,"Recent honey ingestion",["Honey ingestion in recent weeks"],[4000123]],[4000126,"Raw egg-white ingestion",[],[4000123]],[4000127,"Exacerbated by sodium channel blocking agent exposure",["Sodium channel blocking drugs aggravate findings"],[4000176]],[4000128,"Addictive nitrous oxide use",["Nitrous oxide abuse","Nitrous oxide addiction"],[33511]],[4000129,"Recent blood transfusion",["Blood transfusion, recent"],[32443]],[4000130,"Ameliorated by colchicine",["Colchicine ameliorates symptoms"],[34536]],[4000131,"Ameliorated by vitamin D",["Vitamin D reduces manifestations"],[34536]],[4000132,"Exacerbated by phenytoin exposure",["Phenytoin produces worsening"],[4000176]],[4000133,"Triggered by angiotensin-converting enzyme inhibitor",["ACE inhibitors trigger attacks"],[4000101]],[4000134,"Prostaglandin E1 exposure",[],[4000112]],[4000135,"5-fluorouracil exposure",[],[4000112]],[4000136,"6-mercaptopurine exposure",[],[4000112]],[4000137,"Isoniazid exposure",[],[4000112]],[4000138,"Absent cavum septum pellucidum",[],[7375,34206]],[4000139,"Fetal abdominal cyst",["Fetal cystic abdominal mass","Foetal abdominal cyst","Foetal cystic abdominal mass"],[34207]],[4000140,"Fetal bowel dilatation",["Foetal bowel dilatation","Prenatal ultrasound: bowel loops dilated"],[34207]],[4000141,"Left ventricular dilatation",["Dilated left heart ventricle"],[1711]],[4000142,"Fetal trigonocephaly",["Foetal trigonocephaly","Strawberry sign","Strawberry skull","Strawberry-shaped skull"],[25662]],[4000143,"Abnormal fetal heart outflow tract",[],[10948]],[4000144,"Recent past medical history",[],[32443]],[4000145,"History of recent viral illness",["Antecedent viral illness"],[4000144]],[4000146,"History of recent dental procedure",[],[4000144]],[4000147,"Abnormal hepatic artery morphology",[],[6707]],[4000148,"Hepatic artery hyperplasia",[],[4000147]],[4000149,"Lymph node necrosis",["Necrosis in lymph node"],[2733]],[4000150,"Multinucleated neuron",[],[12757]],[4000151,"History of recent contralateral injury",[],[4000144]],[4000152,"Alternating laterality",["Alternating sides of the body"],[12831]],[4000153,"Cervical squamous cell papilloma",["Cervix squamous papilloma"],[32241]],[4000154,"Liver leiomyoma",["Hepatic leiomyoma"],[2896]],[4000158,"Typified by high penetrance",[],[3829]],[4000159,"Typified by moderate penetrance",[],[3829]],[4000160,"Typified by low penetrance",[],[3829]],[4000162,"Decreased Succinyl-CoA 3-ketoacid CoA transferase activity",["SCOT activity low in fibroblasts"],[12379]],[4000163,"Reduced phytanic acid oxidase activity in cultured fibroblasts",["Decreased phytanoyl-CoA hydroxylase activity","PhyH activity low in fibroblasts"],[4000195]],[4000164,"Reduced bifunctional protein activity",["Reduced 17-beta-hydroxysteroid dehydrogenase 4 activity"],[12379]],[4000165,"Decreased circulating plasmalogen concentration",["Reduced circulating plasmalogen concentration"],[40176]],[4000166,"Post-vaccination varicella zoster virus infection",["Varicella zoster virus infection after vaccination"],[20085]],[4000167,"Recent steroid exposure",["History of recent steroid use"],[4000112]],[4000168,"Shark teeth",["Cauliflower teeth","Double-parked teeth","Teeth: double row"],[6292]],[4000169,"Pontine T2 hypointensity",[],[7361]],[4000170,"Anti-platelet antigen antibody positivity",["Antiplatelet antibodies present"],[30057]],[4000171,"Anti-voltage-gated potassium channel antibody positivity",["Voltage gated potassium channel antibodies in blood"],[30057]],[4000172,"Vegan diet",[],[4000123]],[4000173,"History of previous pregnancy with hydrops fetalis",["History of hydrops fetalis in newborn offspring"],[32467]],[4000174,"Ameliorated by potassium supplements",["Potassium supplements alleviate attacks"],[25254]],[4000175,"Ameliorated by niacin",["Ameliorated by vitamin B3","Niacin reverses symptoms"],[25254]],[4000176,"Aggravated by exposure to medication",[],[25285]],[4000177,"Bleeding ameliorated by vitamin K",["Vitamin K treatment reduces bleeding significantly"],[34536]],[4000178,"Anti-retroviral therapy exposure",[],[4000112]],[4000179,"Potassium-wasting diuretic exposure",[],[4000112]],[4000180,"Tricyclic antidepressant exposure",["Tricyclic antidepressant use"],[4000112]],[4000181,"Excessive dental attrition",["Excessive tooth attrition","Excessive wear and tear on teeth"],[6482]],[4000182,"Positionally dependent pain",["Positional nature to pain"],[25280]],[4000183,"Abnormal erythrocyte adenosine triphosphate concentration",[],[1877]],[4000184,"Reduced erythrocyte adenosine triphosphate concentration",[],[4000183]],[4000186,"Elevated erythrocyte adenosine triphosphate concentration",["Adenosine triphosphate (ATP) high in erythrocytes"],[4000183]],[4000187,"Spermatogonial maturation arrest",["Spermatogonial arrest"],[31038]],[4000189,"Elevated circulating neuron-specific enolase concentration",["Neuron-specific enolase high in blood"],[12379]],[4000190,"Reduced leukocyte alpha-mannosidase activity",[],[34858]],[4000191,"Increased circulating alpha-mannosidase activity",[],[4000201]],[4000192,"Reduced leukocyte cathepsin D activity",[],[34858]],[4000193,"Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity",["Reduced leukocyte N-sulphoglucosamine sulphohydrolase activity"],[34858]],[4000194,"Pseudohyperkalemia",[],[11042]],[4000195,"Abnormal enzyme activity in cultured fibroblasts",[],[6000231]],[4000196,"Reduced heparan-alpha-glucosaminide N-acetyltransferase activity in cultured fibroblasts",[],[4000195]],[4000197,"Reduced N-acetylgalactosamine-6-sulfatase in cultured fibroblasts",["Reduced N-acetylgalactosamine-6-sulfate sulfatase in cultured fibroblasts"],[4000195]],[4000198,"Reduced acetylglucosamine-6-sulfatase activity in cultured fibroblasts",["Reduced acetylglucosamine-6-sulfate sulfatase activity in cultured fibroblasts"],[4000195]],[4000199,"Reduced erythrocyte porphobilinogen deaminase activity",[],[30272]],[4000200,"Reduced holocarboxylase synthetase activity in cultured fibroblasts",[],[4000195]],[4000201,"Abnormal circulating alpha mannosidase activity",[],[12379]],[4000202,"Reduced tissue alpha-N-acetylgalactosaminidase activity",[],[4000195]],[4000203,"Reduced erythrocyte arginase activity",[],[30272]],[4000204,"Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts",[],[4000195]],[4000205,"Reduced tissue beta-mannosidase activity",["Reduced beta-mannosidase activity in cultured fibroblasts"],[6000231]],[4000206,"Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts",["3-methylcrotonyl CoA carboxylase low in fibroblasts"],[4000195]],[4000207,"Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts",[],[4000195]],[4000208,"Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity",[],[30272]],[4000209,"Abnormal erythrocyte adenosine deaminase activity",[],[30272]],[4000210,"Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts",[],[4000195]],[4000211,"Reduced glycerol kinase activity in cultured fibroblasts",[],[4000195]],[4000212,"Increased circulating vitamin A concentration",["Vitamin A high in blood"],[8372]],[4000213,"Elevated circulating hyaluronic acid concentration",["Hyaluronic acid high in blood"],[31210]],[4000214,"Diminished breath sounds",["Decreased breath sounds"],[30829]],[5000000,"Anti-AK5 antibody positivity",[],[30057]],[5000001,"Anti-AMPAR antibody positivity",["Anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody"],[30057]],[5000002,"Anti-Amphiphysin antibody",[],[30057]],[5000003,"Anti-ARHGAP26 antibody",["Anti-Ca antibody","Anti-RhoGTPase-activating protein 26 antibody"],[30057]],[5000004,"Anti-CARP VIII antibody",["Anti CARPVIII antibody","Anti-carbonic anhydrase-related protein VIII antibody"],[30057]],[5000005,"Anti-CASPR2",["Anti-Caspr2 antibody","Anti-contactin-associated protein-like 2 antibody"],[30057]],[5000006,"Anti-CV2/CRMP5 antibody positivity",["Anti-CV2 antibody","Anti-CV2/collapsin response mediator protein (CRMP)5 antibody","Anti-collapsin response-mediated protein 5 antibody"],[30057]],[5000007,"Anti-DPPX antibody",["Anti-dipeptidyl-peptidase-like protein 6 antibody"],[30057]],[5000008,"Anti-FGFR3 antibody positivity",["Anti-fibroblast growth factor receptor 3 antibody"],[30057]],[5000009,"Anti-GABA(A)R antibody",["Anti-GABAA R antibody","Anti-gamma amino butyric acid type A receptors antibody"],[30057]],[5000010,"Anti-GABA(B)R antibody",["Anti-gamma-aminobutyric acid B receptor antibody"],[30057]],[5000011,"Anti-GAD65 antibody",["Anti-glutamic acid decarboxylase 65 antibody"],[30057]],[5000012,"Anti-Gephyrin antibody",[],[30057]],[5000013,"Anti-GFAP antibody",["Anti-glial fibrillary acidic protein antibody"],[30057]],[5000014,"Anti-GlyR antibody",["Anti-glycine receptor antibody"],[30057]],[5000015,"Anti-Homer-3 antibody",["Anti-Homer protein homolog 3 antibody"],[30057]],[5000016,"Anti-Hu antibody positivity",["Anti-ANNA-1 antibody","Anti-Neuronal Nuclear Antibody type-1 antibody"],[30057]],[5000017,"Anti-Iglon5 antibody",["Anti-immunoglobulin-like cell adhesion molecule 5 antibody"],[30057]],[5000018,"Anti-ITPR1 antibody",["Anti-inositol 1,4,5-trisphosphate receptor type 1 antibody"],[30057]],[5000019,"Anti-Kelch like protein 11 antibody positivity",["Anti-KLHL11 antibody"],[30057]],[5000020,"Anti-LGI1 antibody",["Anti-Anti-leucine-rich glioma-inactivated 1 antibody"],[30057]],[5000021,"Anti-Ma antibody positivity",[],[30057]],[5000022,"Anti-Ma2 antibody positivity",["Anti-Ta antibody"],[5000021]],[5000023,"Anti-Ma1 antibody positivity",[],[5000021]],[5000024,"Anti-mGluR1 antibody",["Anti-metabotropic glutamate receptor 1 antibody"],[30057]],[5000025,"Anti-mGluR5 antibody",["Anti-Metabotropic Glutamate Receptor Type 5 antibody"],[30057]],[5000026,"Anti-neurexin-3alpha antibody positivity",["Anti-neurexin-3alpha antibody"],[30057]],[5000027,"Anti-P/Q-type VGCC antibody positivity",["Anti-P/Q-type voltage-gated calcium-channel antibody"],[30057]],[5000028,"Anti-MAP1B antibody",["Anti-Purkinje cell cytoplasmic type-2 antibody","Anti-microtubule-associated protein 1B antibody"],[30057]],[5000029,"Anti-PKCgamma antibody",["Anti-Protein kinase C gamma antibody"],[30057]],[5000030,"Anti-Ri antibody",["Anti-ANNA-2 antibody"],[30057]],[5000031,"Anti-Septin-5 antibody",[],[30057]],[5000032,"Anti-SEZ6L2 antibody",[],[30057]],[5000033,"Anti-SOX1 antibody",["Anti-Sry-like high mobility group box (SOX) 1 antibody"],[30057]],[5000034,"Anti-Tr/DNER antibody",["Anti-delta/notch-like epidermal growth factor-related receptor antibody","PCA-Tr"],[30057]],[5000035,"Anti-TRIM46 antibody",[],[30057]],[5000036,"Anti-TRIM9/TRIM67 antibody",[],[30057]],[5000037,"Anti-Yo antibody positivity",["Anti-Purkinje cell cytoplasmic antibody 1"],[30057]],[5000038,"Anti-titin antibody positivity",[],[30057]],[5000039,"Anti-Zic4 antibody positivity",[],[30057]],[5000040,"Distal radioulnar joint space widening",[],[6439]],[5000042,"Anti-Sj/ITPR1 antibody",["Anti-Sj/inositol 1,4,5-trisphosphate receptor antibody"],[30057]],[5000043,"Anti-D2 R antibody",["Anti-dopamine-2 receptors (D2R) antibody"],[30057]],[5000044,"Anti-GluK2 antibody",["Anti-glutamate kainate receptor subunit 2 antibody"],[30057]],[5000046,"Anti-Lrp4 antibody positivity",["Anti-low-density lipoprotein receptor-related protein 4 antibody"],[30057]],[5000047,"Anti-ryanodine receptor antibody",["Anti-RyR antibody"],[30057]],[5000048,"Anti-Kv1.4 antibody",[],[30057]],[5000049,"Distal radioulnar joint translation",[],[6439]],[5200001,"Selective mutism",[],[2300]],[5200002,"Limited repertoire of facial expression",["Reduced range of facial expressions"],[4000087]],[5200003,"Excessive interest in others",[],[5200020]],[5200005,"Abnormal pitch",[],[5200010]],[5200006,"Disjointed sentences",["Loose association"],[25782]],[5200007,"Neologism",[],[25773]],[5200008,"Overly formal/pedantic language",[],[25773]],[5200009,"Midline hand movements",[],[5200018]],[5200010,"Abnormal Intonation",[],[31434]],[5200011,"Abnormal speech rate",[],[2167]],[5200012,"Abnormal speech rhythm",[],[31434]],[5200013,"Ambiguous facial expression",[],[4000089]],[5200014,"Exaggerated facial expression",[],[4000089]],[5200015,"Muted facial expression",["Flat facial expression"],[4000089]],[5200016,"Abnormal peer relationships",[],[5200024]],[5200017,"Stereotypic movements of face and head",[],[733]],[5200018,"Stereotypic upper-extremity movements",[],[733]],[5200019,"Stereotypic whole-body movements",[],[733]],[5200020,"Abnormal interest in others",[],[25732]],[5200021,"Reduced social insight",["Abnormal social awareness","Abnormal social understanding"],[5200401]],[5200022,"Reduced awareness of convention",[],[5200021]],[5200023,"Abnormal HLA-DR+ T cell proportion",["Abnormal HLA-DR expression on T cells","Abnormal proportion of DR+ T cells"],[25540]],[5200024,"Abnormal relationship",[],[708]],[5200026,"Impaired social imitation",["Decreased imitation of others","Reduced immediate imitation of others"],[12760]],[5200027,"Infrequent social initiations",["Infrequent attempts to direct the attention of another person","Reduced attempt to get or direct the attention of another person","Reduced social initiation"],[5200020]],[5200028,"Reduced responsiveness to social cues",["Reduced response to social cues","Lack of response to verbal cues","Reduced responsiveness to verbal cues"],[12760]],[5200029,"Social disinhibition",[],[734,5200123]],[5200030,"Diminished integration of verbal and non-verbal communicative behavior",[],[34434]],[5200033,"Increased HLA-DR+ T cell proportion",["Elevated proportion of DR+ T cells","Elevated proportion of HLA-DR expressing T cells"],[5200023]],[5200034,"Decreased HLA-DR+ T cell proportion",["Reduced proportion of DR+ T cells","Reduced proportion of HLA-DR expressing T cells"],[5200023]],[5200035,"Reduced cooperative imaginative play",["Reduced collaborative imaginative play"],[5200105,5200136]],[5200037,"Lack of expressed empathy",["Lack of empathy","Lack of expressed sympathy","Reduced empathic arousal","Reduced sympathetic expression"],[12760,5200120]],[5200038,"Bradylalia",["Bradylogia","Slow speech"],[5200011]],[5200039,"Excessively loud speech",["Speech too loud for context"],[5200043]],[5200040,"Excessively quiet speech",["Excessively quiet voice","Excessively soft voice","Speech to soft for context"],[5200043]],[5200043,"Abnormal speech volume",[],[2167]],[5200044,"Reduced attention regulation",[],[100543]],[5200045,"Reduced impulse control",["Impaired self-restraint"],[708]],[5200046,"Sensory behavioral abnormality",[],[708]],[5200047,"Idiosyncratic gesture",[],[34481]],[5200049,"Atypical sorting",["Arranging","Ordering"],[722]],[5200050,"Excessive checking",["Checking behaviors","Checking behaviours"],[722]],[5200051,"Excessive hand washing",[],[722]],[5200052,"Resistance to trivial environmental changes",[],[5200130]],[5200055,"Reduced co-speech gestures",[],[4000081,5200030]],[5200056,"Limited head nodding or shaking",[],[4000081]],[5200057,"Limited pointing",[],[4000081]],[5200058,"Sensory hypersensitivity",[],[5200046]],[5200059,"Sensory hyposensitivity unexplained by sensory deficit",[],[5200046]],[5200060,"Auditory hypersensitivity",["Loudness intolerance","Sensitivity to noise"],[5200058]],[5200061,"Tactile hypersensitivity",[],[5200058]],[5200062,"Auditory sensory seeking",[],[4000079]],[5200063,"Gustatory sensory seeking",[],[4000079]],[5200064,"Olfactory sensory seeking",["Smell seeking"],[4000079]],[5200065,"Tactile sensory seeking",[],[4000079]],[5200066,"Vestibular sensory seeking",[],[4000079]],[5200067,"Visual sensory seeking",[],[4000079]],[5200068,"Socially inappropriate questioning",[],[5200029]],[5200069,"Spinning",["Twirling"],[5200019,5200066]],[5200071,"Delayed Echolalia",[],[10529]],[5200072,"Immediate Echolalia",[],[10529]],[5200073,"Excessive cleaning",[],[722]],[5200100,"Facial expressions not directed to others",[],[4000087]],[5200101,"Limited Repertoire of gestures",[],[4000090]],[5200102,"Reduced social smiling",[],[12434,12760]],[5200104,"Abnormal play",[],[708]],[5200105,"Reduced imaginative play skills",[],[5200104]],[5200108,"Nonfunctional or atypical use of objects in play",[],[31432]],[5200110,"Infrequent social engagement with peers",["Aloneness","Infrequent attempting to engage peers","Marked preference for solitude","Poor social engagement","Prefers being alone"],[5200020]],[5200111,"Avoidance of emotional intimacy",[],[5200120]],[5200113,"Failure to offer information to initiate social interaction",[],[5200027]],[5200116,"Difficulty understanding nonliteral meaning of conversation",[],[5200021]],[5200117,"Poor recognition of injustice",[],[5200021]],[5200118,"Difficulty recognizing another's emotions",[],[5200021,5200120]],[5200119,"Difficulty understanding humor",[],[5200021]],[5200120,"Abnormal social emotional interactions",["Abnormality in emotional social interactions"],[25732]],[5200121,"Objectification of others",["Treats people like objects"],[5200120]],[5200123,"Abnormal response to social norms",[],[25732]],[5200124,"Indifference to social norms",[],[5200123]],[5200125,"Aggression towards others",[],[718]],[5200126,"Aggression towards caregivers",[],[5200125]],[5200127,"Aggression toward non-caregivers",[],[5200125]],[5200129,"Abnormal rituals",[],[5200130]],[5200130,"Insistence on sameness",[],[5200241]],[5200132,"Atypical sensory examination of objects",[],[4000079,5200108]],[5200133,"Intense attachment to unusual objects",[],[5200108]],[5200134,"Jumping",["Bouncing","Hopping","Pogo-ing"],[5200019,5200066]],[5200135,"Delay in the acquisition of cooperative play skills",[],[12434]],[5200136,"Reduced social reciprocity",["Reduced social reciprocity with peers","Reduced friendship reciprocity"],[12760]],[5200200,"Olfactory hallucination",["Hallucinations of smell","Smell hallucination"],[738]],[5200201,"Gustatory hallucination",["Hallucinations of taste","Taste hallucination"],[738]],[5200202,"Abnormal interpretation of external stimuli",[],[5200423]],[5200203,"Proprioceptive hallucination",[],[5200214]],[5200204,"Disturbed perception with a stimulus",[],[5200202]],[5200205,"Illusions",[],[5200204]],[5200207,"Inattentiveness illusion",[],[5200205]],[5200208,"Illusions due to affect",[],[5200205]],[5200209,"Pareidolia",[],[5200205]],[5200210,"Autoscopy",[],[5200216]],[5200211,"Subjective eidetic images",["Photographic memory"],[5200423]],[5200212,"Amplification of social interactions",["Amplified socialising","Amplified socializing","Increase in social interactions"],[5200243]],[5200213,"Diminishment of emotional responsiveness",["Diminishment of empathy"],[5200310]],[5200214,"Somatic hallucination",["Hallucination of bodily sensation","Somatic bodily hallucination"],[738]],[5200215,"Visceral hallucination",[],[5200214]],[5200216,"Abnormal perceptual state",[],[5200202]],[5200217,"Depersonalization",[],[5200216]],[5200218,"Derealization",[],[5200216]],[5200220,"Decreased facial expression mirroring",["Decreased facial expression reciprocity","Lack of facial mirroring"],[12760,4000075]],[5200221,"Diminishment of comfort with casual physical contact",["Discomfort with physical contact","Discomfort with physical touch","Touch avoidance"],[5200310]],[5200227,"Thought blocking",["Thought withdrawal","Thought-blocking"],[5200419]],[5200230,"Maladaptive fear-related cognitions",["Abnormal fear","Abnormal fear-related cognitions"],[5200401]],[5200231,"Hypervigilance",[],[100852]],[5200232,"Phobia",[],[5200230]],[5200233,"Anticipatory anxiety",[],[739]],[5200234,"Flight of ideas",["Clang associations","Distracted speech","Rhyming puns"],[25781]],[5200237,"Pronunciation difficulties",[],[9088]],[5200238,"Vowel expressive impediment",[],[5200237]],[5200239,"Consonant expressive impediment",[],[5200237]],[5200240,"Delayed spoken language comprehension",["Delayed verbal comprehension"],[10863]],[5200241,"Recurrent maladaptive behavior",[],[708]],[5200242,"Cognitive distortion",[],[25785]],[5200243,"Abnormal change in social behavior",[],[12433]],[5200261,"Abnormal demeanor",[],[708]],[5200263,"Abnormally increased volition",["Abnormally increased energy","Abnormally increased motivation","Abnormally increased personal volitional state"],[25780]],[5200265,"Pressured speech",["Excessive speech output"],[31434]],[5200267,"Leaden paralysis",[],[5200214]],[5200270,"Grandiosity",[],[5200242]],[5200271,"Hopelessness",["Exaggerated pessimism","Hopeless"],[5200242]],[5200273,"Pathological sadness",["Profound unhappiness","Depressed mood","Down in the dumps","Feeling hopeless all the time","Has the blues","Morbid sadness","Unrelenting despondency","Abnormal grief response","Melancholy","Dysthymia","Emotional pain","Profound despair","Profound sorrow"],[31467]],[5200276,"Decreased need for sleep",[],[2360]],[5200283,"Sleep-related breathing disorders",["Difficult respiration during sleep"],[2360]],[5200287,"Recurrent distressing nightmares",["Disturbing dreams","Nightmare disorder"],[25184,5200299]],[5200288,"Sleep-related eating behavior",["Consuming food while asleep","Nocturnal sleep-related eating disorder (NS-RED)","SRED","Sleep eating","Sleep-related eating disorder"],[25184,25235,100738]],[5200289,"Microsleep",["Short duration sleep"],[25288]],[5200290,"Exploding head syndrome",[],[4000063]],[5200291,"REM sleep behavior disorder",["RBD","REM sleep behaviour disorder","Rapid eye movement sleep behavior disorder","Rapid eye movement sleep behaviour disorder","Sleep enactment"],[5200299,5200300]],[5200292,"Non-restorative sleep",["Non-refreshing sleep","Unrefreshing sleep","Waking up tired"],[4000064]],[5200293,"Sleep-wake transition abnormality",["Disturbance during transitions between sleep and wake states","Sleep state switching","Sleep-wake transition disorders"],[25234]],[5200294,"Sexsomnia",["Sexual behavior during sleep","Sexual behaviour during sleep"],[25235]],[5200295,"Periodic limb movements of sleep",["Rhythmic limb movements during sleep"],[5200300]],[5200296,"Abnormal transition from sleep to wakefulness",["Abnormal hypnopompia","Abnormality waking up"],[5200293]],[5200297,"Abnormal transition from wakefulness to sleep",["Abnormal falling asleep","Abnormal hypnagogia"],[5200293]],[5200298,"Abnormal sleep architecture",["Sleep architecture disturbances","Sleep stage disturbances"],[2360]],[5200299,"REM parasomnia",["Disturbance in REM","Rapid eye movement parasomnia"],[2494,25234]],[5200300,"Abnormal movement during sleep",["Nocturnal myoclonus syndrome","Periodic limb movement disorder"],[25234]],[5200304,"Short N1 sleep",["Short light sleep of NREM"],[5200362]],[5200305,"Paradoxical insomnia",["Disturbance in perception related to sleep","Sleep misperception","Sleep state misperception"],[2360]],[5200307,"Short N2 sleep",["Short subdued state of NREM"],[5200362]],[5200309,"Short N3 sleep",["Short slow wave sleep"],[5200362]],[5200310,"Diminishment of social interactions",["Reduced, declined or lessened social interactions"],[5200243]],[5200311,"Amplification of interpersonal communication",["Heightened, amplified social expression and social connectedness","Increase in interpersonal communication"],[5200212]],[5200315,"Amplification of relationship seeking",["Extraversion","Increased seeking of relationships"],[5200212]],[5200316,"Diminishment of interpersonal communication",["A decline or reduced social expression and social connectedness","Decreased interpersonal communication"],[5200310]],[5200320,"Diminishment of relationship seeking",["Decreased seeking of relationships","Introversion","Self-isolation","Social isolation"],[5200310]],[5200321,"Amplification of sexual behavior",["Hypersexuality","Increase in sexual behavior","Increased sexual behavior","Increased sexual behaviour"],[25793,5200212]],[5200322,"Amplification of emotional expression",["Increase in emotional expression","Increased emotional display"],[5200212]],[5200323,"Amplification of emotional responsiveness",["Increase in emotional responsiveness"],[5200212]],[5200325,"Amplification of comfort with casual physical contact",["Increase in comfort with casual physical contact"],[5200212]],[5200327,"Diminishment of sexual behavior",["Decreased sexual behavior","Decreased sexual behaviour","Hyposexuality"],[25793]],[5200328,"Diminishment of emotional expression",["Decreased emotional display"],[5200310]],[5200329,"Problematic alcohol consumption",["Excessive alcohol consumption"],[430037]],[5200330,"Suicide behaviors",["Sucidality","Suicidal actions"],[100716]],[5200331,"Addictive sedative use",["Sedative addiction"],[33511]],[5200332,"Addictive non-substance behaviors",["Addiction to a behavior","Addiction to a behaviour","Addiction to an activity","Addictive activity"],[30858]],[5200333,"Addictive spending behavior",["Shopaholic","Shopping addiction","Spending addiction"],[5200332]],[5200334,"Addictive gambling behavior",["Gambling addiction"],[5200332]],[5200335,"Addictive sex behavior",["Sex addiction"],[5200332]],[5200336,"Addictive video game use",["Excessive video game playing","Video game addiction"],[5200332]],[5200337,"Compulsive stealing",["Kleptomania"],[722]],[5200338,"Excessive fire setting",["Pyromania"],[722]],[5200339,"Self-cutting",["Cutting","Deliberate cutting of skin","Self cutting"],[742]],[5200341,"Addictive cannabis use",["Addictive marijuana use","Cannabis addiction","Marijuana addiction"],[33511]],[5200342,"Autophagia",["Self-consumption"],[12169]],[5200352,"Hypnagogic sleep paralysis",["Inability to move while falling asleep","Predormital sleep paralysis"],[25233,5200296]],[5200353,"Hypnopompic sleep paralysis",["Inability to move while awakening","Postdormital paralysis","Postdormital sleep paralysis"],[25233,5200297]],[5200356,"Sleep onset rapid eye movement period",["SOREMP","Sleep-onset (REM) period","Sleep-onset rapid eye movement (REM) period"],[2494,5200296,5200298]],[5200357,"Prolonged N1 sleep",[],[5200363]],[5200358,"Prolonged N2 sleep",[],[5200363]],[5200359,"Prolonged N3 sleep",[],[5200363]],[5200360,"Short REM sleep",["Short rapid eye movement sleep"],[2494,5200298]],[5200361,"Prolonged REM sleep",["Prolonged rapid eye movement sleep"],[2494,5200298]],[5200362,"Short NREM sleep",[],[5200298]],[5200363,"Prolonged NREM sleep",[],[5200298]],[5200401,"Abnormal judgment",["Abnormal beliefs"],[5200423]],[5200402,"Overvalued idea",["Overvalued ideas"],[25785]],[5200403,"Time agnosia",[],[10524]],[5200405,"Olfactory agnosia",[],[10524]],[5200406,"Tactile agnosia",[],[10524]],[5200407,"Topographical agnosia",[],[10524]],[5200409,"Delusional memory",["Retrospective delusion"],[746]],[5200410,"Auditory agnosia",[],[10524]],[5200411,"Gustatory agnosia",[],[10524]],[5200412,"Allesthesia",[],[10524]],[5200413,"Autotopagnosia",[],[10524]],[5200415,"Persecutory delusion",["Delusion of persecution"],[746]],[5200416,"Morbid jealousy",["Delusion of infidelity","Pathological jealousy"],[746]],[5200417,"Grandiose delusion",["Megalomania"],[746]],[5200418,"Folie à deux",["Shared psychosis"],[746]],[5200419,"Disorder of thought control",["Delusion of control"],[746,25769]],[5200420,"Delusion of love",["De Clérambault syndrome","Erotomania","Psychose passionelle"],[746]],[5200421,"Nihilistic delusion",[],[746]],[5200422,"Cotard delusion",["Cotard syndrome"],[746]],[5200423,"Abnormal experience of reality",[],[11446]],[5200424,"Delusional perception",[],[746]],[5200425,"Hypochondriac delusion",["Munchhausen syndrome"],[746]],[5200426,"Delusions of infestation",["Ekbom's syndrome"],[746]],[5200427,"Delusional atmosphere",["Delusional mood"],[746]],[5200428,"Delusional misidentification",[],[746]],[5200429,"Religious delusion",[],[746]],[5200430,"Abnormal psychotic pattern",[],[5200423]],[5201000,"Incomplete unilateral cleft lip",[],[11340,100333]],[5201001,"Complete unilateral cleft lip",[],[100333,5201009]],[5201002,"Microform unilateral cleft lip",[],[100333,5201010]],[5201003,"Complete cleft hard palate",[],[410005]],[5201004,"Incomplete cleft hard palate",[],[410005]],[5201005,"Complete cleft soft palate",[],[185]],[5201006,"Incomplete cleft soft palate",[],[185]],[5201007,"Incomplete cleft maxillary alveolar ridge",[],[10289]],[5201008,"Complete cleft maxillary alveolar ridge",[],[10289]],[5201009,"Complete cleft of the upper lip",[],[204]],[5201010,"Microform cleft of the upper lip",[],[204]],[5201011,"Complete bilateral cleft lip",[],[100336]],[5201012,"Incomplete bilateral cleft lip",[],[100336]],[5201013,"Microform bilateral cleft lip",[],[100336]],[5201014,"Asymmetric bilateral cleft lip",[],[100336]],[5201015,"Craniofacial cleft",[],[234]],[5201016,"Submucous cleft palate",["Submucosal cleft palate","Submucous clefting"],[175]],[5210000,"Unusual bacterial infection",["Unusual susceptibility to bacterial infection"],[32101]],[5210001,"Unusual gram-positive bacterial infection",[],[5210000]],[5210002,"Unusual gram-negative bacterial infection",[],[5210000]],[5210003,"Unusual Staphylococcus aureus infection",["Unusual susceptibility to Staphylococcus aureus"],[5210001]],[5210004,"Severe Staphylococcus aureus infection",["Disseminated staphylococcus aureus infection","Invasive staphylococcus aureus infection"],[5210003]],[5210005,"Chronic absent circulating IgA",["undetactable IgA","Chronic absent circulating IgA level","Total IgA deficiency"],[2720]],[5210006,"Unusual Enterococcus infection",[],[5210001]],[5210007,"Severe Enterococcus infection",["Disseminated enterococcal infection","Invasive enterococcal infection"],[5210006]],[5210008,"Recurrent Enterococcus infection",["Chronic enterococcal infection","Persistent enterococcus infection","Recurrent enterococcal infection"],[5210006]],[5210009,"Unusual Streptococcus infection",["Unusual streptococcal infection"],[5210001]],[5210010,"Unusual Streptococcus pneumoniae infection",["Unusual pneumococcal infection","Unusual susceptibility to pneumococcus"],[32260,5210009]],[5210011,"Severe Streptococcus pneumoniae infection",["Disseminated pneumococcal infection","Invasive pneumococcal disease"],[5210010]],[5210012,"Recurrent Streptococcus pneumoniae infection",["Chronic pneumococcal infection","Persistent pneumococcal infection","Recurrent pneumococcal infection"],[5210010]],[5210013,"Unusual Streptococcus pyogenes infection",["Unusual GAS infection","Unusual Group A streptococcal infection"],[5210009]],[5210014,"Severe Streptococcus pyogenes infection",["Disseminated Streptococcus pyogenes infection","Invasive Group A streptococcal infection"],[5210013]],[5210015,"Recurrent Streptococcus pyogenes infection",["Chronic Streptococcus pyogenes infection","Persistent Streptococcus pyogenes infection","Recurrent Group A streptococcal infection"],[5210013]],[5210016,"Unusual Streptococcus agalactiae infection",["Unusual GBS infection","Unusual Group B streptococcal infection"],[5210009]],[5210017,"Severe Streptococcus agalactiae infection",["Disseminated Streptococcus agalactiae infection","Invasive Group B streptococcal infection"],[5210016]],[5210018,"Recurrent Streptococcus agalactiae infection",["Chronic Streptococcus agalactiae infection","Persistent Streptococcus agalactiae infection","Recurrent Group B streptococcal infection"],[5210016]],[5210019,"Unusual Listeria infection",["Unusual listeriosis"],[32260,5210001]],[5210020,"Severe Listeria infection",["Disseminated listeriosis","Invasive listeriosis"],[5210019]],[5210021,"Recurrent Listeria infection",["Chronic listeriosis","Persistent listeria infection","Recurrent listeriosis"],[5210019]],[5210022,"Unusual Nocardia infection",["Unusual nocardiosis"],[32260,5210001]],[5210023,"Severe Nocardia infection",["Disseminated nocardiosis","Invasive nocardiosis"],[5210022]],[5210024,"Recurrent Nocardia infection",["Chronic nocardiosis","Persistent nocardia infection","Recurrent nocardiosis"],[5210022]],[5210025,"Unusual Actinomyces infection",["Unusual actinomycosis"],[5210001]],[5210026,"Severe Actinomyces infection",["Disseminated actinomycosis","Invasive actinomycosis"],[5210025]],[5210027,"Recurrent Actinomyces infection",["Chronic actinomycosis","Persistent actinomyces infection","Recurrent actinomycosis"],[5210025]],[5210028,"Unusual Clostridium infection",["Unusual clostridial infection"],[5210001]],[5210029,"Severe Clostridium infection",["Disseminated clostridial infection","Invasive clostridial infection"],[5210028]],[5210030,"Recurrent Clostridium infection",["Chronic clostridial infection","Persistent clostridium infection","Recurrent clostridial infection"],[5210028]],[5210031,"Chronic decreased circulating IgM concentration",["Chronic decreased circulating IgM level","partial IgM deficiency"],[2850]],[5210032,"Chronic absent circulating IgM",["undetectable IgM","Chronic absent circulating IgM level","total IgM deficiency"],[2850]],[5210033,"Transient decreased circulating IgM concentration",["transient IgM deficiency"],[2850]],[5210034,"Complete or near-complete absence of specific antibody response to unconjugated Salmonella typhi vaccine",["total specific polysaccharide antibody deficiency to Typhim Vi"],[410299]],[5210035,"Partial absence of specific antibody response to unconjugated Salmonella typhi vaccine",["partial specific polysaccharide antibody deficiency to Typhim Vi"],[410299]],[5210036,"Decreased circulating specific Haemophilus influenzae type b antibody concentration",["Decreased specific Haemophilus influenzae type b antibody level","Low Hib antibody titer","Specific Haemophilus influenzae type b antibody deficiency"],[2848]],[5210037,"Unusual Shigella infection",["Unusual infection with Shigella species","Unusual infection with Shigella spp"],[5210002]],[5210038,"Severe Shigella infection",["Disseminated Shigella infection","Invasive Shigella infection","Severe infection with Shigella species","Severe infection with Shigella spp"],[5210037]],[5210039,"Recurrent Shigella infection",["Chronic Shigella infection","Persistent Shigella infection","Recurrent infection with Shigella species","Recurrent infection with Shigella spp"],[5420,5210037]],[5210040,"Unusual Klebsiella infection",["Unusual infection with Klebsiella species","Unusual infection with Klebsiella spp"],[5210002]],[5210041,"Severe Klebsiella infection",["Disseminated Klebsiella infection","Invasive Klebsiella infection","Severe infection with Klebsiella species","Severe infection with Klebsiella spp"],[5210040]],[5210043,"Unusual Enterobacter infection",["Unusual infection with Enterobacter species","Unusual infection with Enterobacter spp"],[5210002]],[5210044,"Severe Enterobacter infection",["Disseminated Enterobacter infection","Invasive Enterobacter infection","Severe infection with Enterobacter species","Severe infection with Enterobacter spp"],[5210043]],[5210045,"Recurrent Enterobacter infection",["Chronic Enterobacter infection","Persistent Enterobacter infection","Recurrent infection with Enterobacter species","Recurrent infection with Enterobacter spp"],[5420,5210043]],[5210046,"Unusual Serratia infection",["Unusual infection with Serratia species","Unusual infection with Serratia spp"],[32260,5210002]],[5210047,"Severe Serratia infection",["Disseminated Serratia infection","Invasive Serratia infection","Severe infection with Serratia species","Severe infection with Serratia spp"],[5210046]],[5210049,"Unusual Proteus infection",["Unusual infection with Proteus species","Unusual infection with Proteus spp"],[5210002]],[5210050,"Severe Proteus infection",["Disseminated Proteus infection","Invasive Proteus infection","Severe infection with Proteus species","Severe infection with Proteus spp"],[5210049]],[5210051,"Recurrent Proteus infection",["Chronic Proteus infection","Persistent Proteus infection","Recurrent infection with Proteus species","Recurrent infection with Proteus spp"],[5420,5210049]],[5210052,"Unusual Citrobacter infection",["Unusual infection with Citrobacter species","Unusual infection with Citrobacter spp"],[5210002]],[5210053,"Severe Citrobacter infection",["Disseminated Citrobacter infection","Invasive Citrobacter infection","Severe infection with Citrobacter species","Severe infection with Citrobacter spp"],[5210052]],[5210054,"Recurrent Citrobacter infection",["Chronic Citrobacter infection","Persistent Citrobacter infection","Recurrent infection with Citrobacter species","Recurrent infection with Citrobacter spp"],[5420,5210052]],[5210055,"Unusual Pseudomonas aeruginosa infection",[],[32260,5210002]],[5210056,"Severe Pseudomonas aeruginosa infection",["Disseminated pseudomonal infection","Invasive Pseudomonas aeruginosa infection"],[5210055]],[5210057,"Recurrent Pseudomonas aeruginosa infection",["Chronic pseudomonal infection","Persistent Pseudomonas aeruginosa infection"],[5420,5210055]],[5210058,"Unusual Acinetobacter baumannii infection",[],[5210002]],[5210059,"Severe Acinetobacter baumannii infection",["Disseminated Acinetobacter infection","Invasive Acinetobacter baumannii infection"],[5210058]],[5210060,"Recurrent Acinetobacter baumannii infection",["Chronic Acinetobacter baumannii infection","Persistent Acinetobacter baumannii infection"],[5420,5210058]],[5210061,"Unusual Legionella pneumophila infection",[],[5210002]],[5210062,"Severe Legionella pneumophila infection",["Disseminated Legionella infection","Invasive Legionella infection","Severe legionellosis"],[5210061]],[5210063,"Recurrent Legionella pneumophila infection",["Chronic Legionella pneumophila infection","Persistent Legionella pneumophila infection","Recurrent legionellosis"],[5420,5210061]],[5210064,"Unusual Neisseria gonorrhoeae infection",[],[5210002]],[5210065,"Severe Neisseria gonorrhoeae infection",["Disseminated gonococcal infection","Invasive gonococcal infection"],[5210064]],[5210066,"Recurrent Neisseria gonorrhoeae infection",["Chronic gonococcal infection","Persistent Neisseria gonorrhoeae infection","Recurrent gonococcal infection"],[5430,5210064]],[5210067,"Unusual Neisseria meningitidis infection",[],[5210002]],[5210068,"Severe Neisseria meningitidis infection",["Disseminated meningococcal infection","Invasive meningococcal disease"],[5210067]],[5210070,"Unusual Haemophilus influenzae infection",[],[5210002]],[5210071,"Severe Haemophilus influenzae infection",["Disseminated H. influenzae infection","Invasive Haemophilus influenzae infection"],[5210070]],[5210073,"Unusual Moraxella catarrhalis infection",[],[5210002]],[5210074,"Severe Moraxella catarrhalis infection",["Disseminated Moraxella catarrhalis infection","Invasive Moraxella catarrhalis infection"],[5210073]],[5210075,"Recurrent Moraxella catarrhalis infection",["Chronic Moraxella catarrhalis infection","Persistent Moraxella catarrhalis infection"],[5420,5210073]],[5210076,"Unusual Vibrio cholerae infection",[],[5210002]],[5210077,"Severe Vibrio cholerae infection",["Disseminated Vibrio cholerae infection","Invasive Vibrio cholerae infection","Severe cholera"],[5210076]],[5210078,"Recurrent Vibrio cholerae infection",["Chronic vibrio cholerae infection","Persistent vibrio cholerae infection","Recurrent cholera"],[5420,5210076]],[5210079,"Unusual Burkholderia cepacia infection",[],[32260,5210002]],[5210080,"Severe Burkholderia cepacia infection",["Disseminated Burkholderia cepacia infection","Invasive Burkholderia cepacia infection"],[5210079]],[5210082,"Unusual Bacteroides infection",["Unusual infection with Bacteroides species","Unusual infection with Bacteroides spp"],[5210002]],[5210083,"Severe Bacteroides infection",["Disseminated Bacteroides infection","Invasive Bacteroides infection","Severe infection with Bacteroides species","Severe infection with Bacteroides spp"],[5210082]],[5210084,"Recurrent Bacteroides infection",["Chronice Bacteroides infection","Persistent Bacteroides infection","Recurrent infection with Bacteroides species","Recurrent infection with Bacteroides spp"],[5420,5210082]],[5210085,"Unusual Fusobacterium infection",["Unusual infection with Fusobacterium species","Unusual infection with Fusobacterium spp"],[5210002]],[5210086,"Severe Fusobacterium infection",["Disseminated Fusobacterium infection","Invasive Fusobacterium infection","Severe infection with Fusobacterium species","Severe infection with Fusobacterium spp"],[5210085]],[5210087,"Recurrent Fusobacterium infection",["Chronic Fusobacterium infection","Persistent Fusobacterium infection","Recurrent infection with Fusobacterium species","Recurrent infection with Fusobacterium spp"],[5420,5210085]],[5210088,"Unusual Prevotella infection",["Unusual infection with Prevotella species","Unusual infection with Prevotella spp"],[5210002]],[5210089,"Severe Prevotella infection",["Disseminated Prevotella infection","Invasive Prevotella infection","Severe infection with Prevotella species","Severe infection with Prevotella spp"],[5210088]],[5210090,"Recurrent Prevotella infection",["Chronic Prevotella infection","Persistent Prevotella infection","Recurrent infection with Prevotella species","Recurrent infection with Prevotella spp"],[5420,5210088]],[5210091,"Unusual Escherichia coli infection",["Unusual infection with E. coli"],[5210002]],[5210092,"Severe Escherichia coli infection",["Disseminated E. coli infection","Invasive E. coli infection","Severe E. coli infection"],[5210091]],[5210093,"Unusual Salmonella infection",["Unusual infection with Salmonella species","Unusual infection with Salmonella spp"],[32260,5210002]],[5210094,"Severe Salmonella infection",["Disseminated Salmonella infection","Invasive Salmonella infection","Severe infection with Salmonella species","Severe infection with Salmonella spp"],[5210093]],[5210095,"Recurrent Salmonella infection",["Chronic Salmonella infection","Persistent Salmonella infection","Recurrent infection with Salmonella species","Recurrent infection with Salmonella spp"],[5420,5210093]],[5210096,"Unusual Pneumocystis jirovecii infection",["Unusual PCP infection","Unusual Pneumocystis jiroveci infection"],[32255]],[5210097,"Severe Pneumocystis jirovecii infection",["Disseminated Pneumocystis jirovecii infection","Invasive Pneumocystis jirovecii infection"],[20101,5210096]],[5210098,"Recurrent Pneumocystis jirovecii infection",["Chronic Pneumocystis jirovecii infection","Persistent Pneumocystis jirovecii infection","Recurrent PCP"],[5210096]],[5210099,"Unusual Aspergillus infection",["Unusual aspergillosis"],[32255]],[5210100,"Severe Aspergillus infection",["Disseminated aspergillosis","Invasive aspergillosis"],[20101,5210099]],[5210101,"Unusual adenovirus infection",["Unusual susceptibility to adenovirus"],[34317]],[5210102,"Unusual Candida infection",["Unusual candidiasis"],[32255]],[5210103,"Cytomegalovirus hepatitis",["CMV hepatitis"],[6562,33432,5210146]],[5210104,"Unusual BK virus infection",["Unusual BK polyomavirus infection","Unusual Human polyomavirus 1 infection"],[33432]],[5210105,"Unusual Cryptococcus infection",["Unusual cryptococcosis"],[32255]],[5210106,"Recurrent Cryptococcus infection",["Chronic Cryptococcus infection","Persistent Cryptococcus infection","Recurrent cryptococcosis"],[5210105]],[5210107,"Disseminated Cryptococcus infection",["Disseminated cryptococcosis","Invasive Cryptococcus infection","Severe Cryptococcus infection"],[20101,5210105]],[5210108,"Sclerosing cholangitis due to Cryptococcus",[],[30991,5210105,5210134]],[5210109,"Chronic hepatitis due to Cryptococcus",[],[200123,5210105,5210139]],[5210110,"Unusual mycobacterial infection",["Unusual mycobacteriosis","Unusual susceptibility to mycobacterial infection"],[32101]],[5210111,"Tuberculosis infection",["TB Tuberculosis","TB infection","Unusual susceptibility to tuberculosis","Unusual tuberculosis infection"],[5210110]],[5210112,"Disseminated tuberculosis infection",["Disseminated tuberculosis","Miliary tuberculosis","Severe tuberculosis"],[5210111]],[5210113,"Recurrent tuberculosis infection",["Chronic tuberculosis","Persistent tuberculosis","Recurrent tuberculosis"],[5210111]],[5210114,"Tuberculous osteomyelitis",["Pott's disease","TB osteomyelitis"],[5210111,5210276]],[5210115,"Non-tuberculous mycobacterial infection",["Unusual MOTT infection","Unusual NTM infection"],[5210110]],[5210116,"Unusual VZV infection",["Unusual susceptibility to VZV","Unusual varicella-zoster virus infection"],[34317]],[5210117,"Recurrent non-tuberculous mycobacterial infection",["Chronic non-tuberculosis mycobacteria infection","Persistent non-tuberculosis mycobacteria infection","Recurrent NTM infection","Recurrent non-tuberculous mycobacteriosis"],[5210115]],[5210118,"Opportunistic mycobacterial infection",["Unusual opportunistic mycobacterial infection"],[5210110]],[5210119,"Unusual Cryptosporidium infection",["Unusual cryptosporidiosis","Unusual susceptibility to Cryptosporidium"],[20104,20108]],[5210120,"Recurrent Cryptosporidium infection",["Chronic Cryptosporidium infection","Persistent Cryptosporidium infection","Recurrent cryptosporidiosis"],[5210119]],[5210121,"Unusual upper respiratory tract infection",[],[11947,32158]],[5210122,"Sclerosing cholangitis due to Cryptosporidium infection",[],[30991,5210119,5210134]],[5210123,"Unusual lower respiratory tract infection",[],[11947,32158]],[5210124,"Unusual Giardia lamblia infection",["Unusual giardiasis"],[20108]],[5210125,"Persistent Giardia lamblia infection",["Chronic giardiasis","Persistent giardiasis"],[5210124]],[5210126,"Recurrent Giardia lamblia infection",["Recurrent giardiasis"],[5210124]],[5210127,"Unusual Toxoplasma infection",["Unusual toxoplasmosis"],[20104,20108]],[5210128,"Unusual cardiovascular system infection",[],[32158]],[5210129,"Toxoplasma infection of the central nervous system (CNS)",["CNS encephalitis due to toxoplasma","Cerebral toxoplasmosis","Toxoplasma encephalitis"],[11450,5210127]],[5210130,"Unusual Leishmania infection",["Leishmaniosis","Unusual leishmaniasis"],[20104,20108]],[5210131,"Severe Leishmania infection",["Disseminated leishmaniasis","Visceral leishmaniasis"],[5210130]],[5210132,"Recurrent Leishmania infection",["Chronic leishmaniasis","Recurrent leishmaniasis"],[5210130]],[5210133,"Opportunistic parasitic infection",["Unusual opportunistic parasitic infection"],[20108]],[5210134,"Unusual cholangitis",["Unusual biliary tract infection","Unusual infectious cholangitis","Unusual susceptibility to cholangitis"],[32166]],[5210135,"Unusual genitourinary infection",[],[11277,32158]],[5210137,"Unusual eye infection",[],[32158]],[5210138,"Unusual liver infection",["Atypical hepatic infection","Non-canonical liver infection"],[12115,32166]],[5210139,"Infectious hepatitis",["Infective liver inflammation","Rare infectious liver disease","Septic hepatitis","Unusual infectious hepatitis"],[5210138]],[5210140,"Bacterial sepsis",["Bacterial bloodstream infection"],[100806,5210000]],[5210141,"Fungal sepsis",["Fungal sepsis bloodstream infection"],[20100,100806]],[5210142,"Viral sepsis",["Viral bloodstream infection"],[34317,100806]],[5210143,"Mycobacterial sepsis",["Mycobacterial bloodstream infection"],[100806,5210110]],[5210144,"Pneumonia with consolidation",[],[2090]],[5210146,"Unusual cytomegalovirus infection",["Unusual CMV infection","Unusual CMV postnatal infection","Unusual susceptibility to CMV"],[34317]],[5210147,"Unusual pleural empyema",["Unusual pleural infection","Unusual susceptibility to empyema"],[11919,5210123]],[5210148,"Severe pleural empyema",["Complicated pleural empyema","Invasive pleural empyema"],[5210147]],[5210149,"Recurrent pleural empyema",["Chronic pleural empyema","Persistent pleural empyema"],[5210147]],[5210150,"Unusual endocarditis",["Unusual infectious endocarditis","Unusual susceptibility to endocarditis"],[100584,5210128]],[5210151,"Severe endocarditis",["Complicated infectious endocarditis","Invasive endocarditis"],[5210150]],[5210152,"Recurrent endocarditis",["Chronic endocarditis","Persistent endocarditis"],[5210150]],[5210153,"Unusual myocarditis",["Unusual infectious myocarditis","Unusual susceptibility to myocarditis"],[12819,5210128]],[5210154,"Severe myocarditis",["Fulminant myocarditis","Invasive myocarditis"],[5210153]],[5210155,"Recurrent myocarditis",["Chronic myocarditis","Persistent myocarditis"],[5210153]],[5210156,"Unusual pericarditis",["Unusual infectious pericarditis","Unusual susceptibility to pericarditis"],[1701,5210128]],[5210157,"Severe pericarditis",["Complicated infectious pericarditis","Pericardial tamponade due to infection","Purulent pericarditis"],[5210156]],[5210158,"Recurrent pericarditis",["Chronic pericarditis","Persistent pericarditis"],[5210156]],[5210159,"Unusual infectious vasculitis",["Unusual susceptibility to infectious vasculitis","Unusual vasculitis due to infection"],[2633,5210128]],[5210160,"Severe infectious vasculitis",["Complicated infectious vasculitis","Invasive infectious vasculitis"],[5210159]],[5210161,"Recurrent infectious vasculitis",["Chronic infectious vasculitis","Persistent infectious vasculitis"],[5210159]],[5210163,"Bacterial liver abscess",["Pyogenic liver abscess"],[100523]],[5210164,"Staphylococcal liver abscess",["Liver abscess due to Staphylococcus aureus"],[5210003,5210163]],[5210165,"Klebsiella liver abscess",[],[5210040,5210163]],[5210166,"Fungal liver abscess",[],[100523]],[5210167,"Hepatic candidiasis",["Candidal liver abscess","Hepatic candidal infection"],[5210102,5210166]],[5210168,"Parasitic liver abscess",[],[100523]],[5210169,"Amoebic liver abscess",["Hepatic amoebic abscess","Liver abscess due to Entamoeba histolytica"],[5210168]],[5210170,"Echinococcal liver cyst",["Hepatic echinococcosis","Hepatic hydatid disease","Hydatid cyst of the liver"],[5210168]],[5210171,"Hepatic schistosomiasis",["Hepatosplenic schistosomiasis","Schistosomal liver disease"],[5210168]],[5210172,"Bacterial splenic abscess",[],[25059,5210000]],[5210173,"Fungal splenic abscess",[],[20100,25059]],[5210174,"Parasitic splenic abscess",[],[20108,25059]],[5210175,"Unusual infectious gastroenteritis",["Unusual infectious infection of the gastrointestinal tract"],[32166]],[5210176,"Unusual bacterial gastroenteritis",[],[5210000,5210175]],[5210177,"Unusual viral gastroenteritis",[],[34317,5210175]],[5210178,"Unusual fungal gastroenteritis",[],[20100,5210175]],[5210179,"Unusual parasitic gastroenteritis",[],[20108,5210175]],[5210180,"Unusual infectious colitis",[],[2583,32166]],[5210181,"Unusual bacterial colitis",[],[5210000,5210180]],[5210182,"Unusual viral colitis",[],[34317,5210180]],[5210183,"Unusual fungal colitis",[],[20100,5210180]],[5210184,"Unusual parasitic colitis",[],[20108,5210180]],[5210185,"Unusual infectious pancreatitis",[],[1733,32166]],[5210186,"Unusual bacterial pancreatitis",[],[5210000,5210185]],[5210187,"Unusual viral pancreatitis",[],[34317,5210185]],[5210188,"Unusual fungal pancreatitis",[],[20100,5210185]],[5210189,"Unusual parasitic pancreatitis",[],[20108,5210185]],[5210190,"Unusual bacterial cholangitis",["Recurrent bacterial cholangitis","Unusual ascending cholangitis","Unusual susceptibility to bacterial cholangitis"],[5210134]],[5210191,"Unusual cystitis",["Bladder inflammation","Cystitis","Infection of the bladder"],[5210135]],[5210192,"Unusual hemorrhagic cystitis",["Unusual haemorrhagic cystitis"],[5210101,5210191]],[5210193,"Unusual fungal cystitis",[],[32255,5210191]],[5210194,"Unusual bacterial cystitis",[],[5210000,5210191]],[5210195,"Unusual pyelonephritis",["Atypical pyelonephritis"],[12330,5210135]],[5210196,"Unusual kidney abscess",["Unusual renal abscess"],[12210,5210135]],[5210197,"Bacterial kidney abscess",["Bacterial perinephric abscess","Bacterial renal abscess","Pyogenic renal abscess"],[5210196]],[5210198,"Fungal kidney abscess",["Candidal renal abscess","Fungal renal abscess","Renal candidiasis"],[5210196]],[5210199,"Parasitic kidney abscess",["Echinococcal renal cyst","Parasitic renal abscess","Renal hydatid cyst"],[5210196]],[5210200,"Unusual vaginal infection",[],[5210135]],[5210201,"Unusual bacterial vaginal infection",[],[5210000,5210200]],[5210202,"Unusual viral vaginal infection",[],[5210200]],[5210203,"Unusual fungal vaginal infection",[],[32255,5210200]],[5210204,"Unusual parasitic vaginal infection",[],[20108,5210200]],[5210205,"Unusual bacterial osteomyelitis",[],[5210000,5210278]],[5210206,"Unusual fungal osteomyelitis",[],[20100,5210278]],[5210207,"Unusual infectious arthritis",[],[1369,5210277]],[5210208,"Unusual bacterial arthritis",["Bacterial septic arthritis"],[5210000,5210207]],[5210209,"Unusual fungal arthritis",[],[20100,5210207]],[5210210,"Unusual mycobacterial arthritis",[],[5210110,5210207]],[5210211,"Unusual infectious myositis",[],[100614,5210277]],[5210212,"Unusual bacterial myositis",[],[5210000,5210211]],[5210213,"Unusual fungal myositis",[],[20100,5210211]],[5210214,"Unusual mycobacterial myositis",[],[5210110,5210211]],[5210215,"Unusual viral myositis",[],[34317,5210211]],[5210216,"Viral meningitis",[],[1287,34317]],[5210217,"Bacterial meningitis",[],[1287,5210000]],[5210218,"Parasitic meningitis",[],[1287,20108]],[5210219,"Mycobacterial meningitis",[],[1287,5210110]],[5210220,"Fungal encephalitis",[],[2383,20100]],[5210221,"Parasitic encephalitis",[],[2383,20108]],[5210222,"Mycobacterial encephalitis",[],[2383,5210110]],[5210223,"Bacterial brain abscess",[],[30049,5210000]],[5210224,"Fungal brain abscess",[],[20100,30049]],[5210225,"Parasitic brain abscess",[],[20108,30049]],[5210226,"Mycobacterial brain abscess",[],[30049,5210110]],[5210227,"Unusual spinal cord infection",["Infectious myelitis","Infectious spinal cord compression","Spinal cord abscess","Spinal intradural abscess","Unusual myelitis"],[11450]],[5210228,"Unusual bacterial skin infection",[],[32162,5210000]],[5210229,"Unusual bacterial skin abscess",["Unusual skin abscess"],[31292,5210228]],[5210230,"Recurrent boils",["Recurrent folliculitis","Recurrent furuncles"],[5210228]],[5210231,"Bacterial cellulitis",["Recurrent cellulitis","Unusual bacterial cellulitis"],[5210228]],[5210232,"Unusual viral skin infection",[],[32162]],[5210233,"Unusual HSV skin infection",["Cutaneous herpes","Herpes simplex skin infection","Unusual Herpes simplex skin infection"],[5210232,5210240]],[5210234,"Unusual parasitic skin infection",[],[20108,32162]],[5210235,"Unusual VZV skin infection",["Chickenpox","Varicella-zoster virus skin infection","Zoster"],[5210116,5210232]],[5210236,"Unusual fungal skin infection",[],[20100,32162]],[5210237,"Recurrent diaper rash",["Recurrent candidal nappy rash","Recurrent diaper dermatitis","Recurrent nappy rash"],[11370,5210236]],[5210238,"Unusual nail infection",["Unusual nail apparatus infection","Unusual susceptibility to nail infection"],[32162]],[5210239,"Unusual bacterial nail bed infection",["Recurrent paronychia","Unusual bacterial paronychia","Unusual nail fold infection","Unusual paronychia"],[5210228,5210238]],[5210240,"Unusual HSV infection",["Unusual herpes simplex virus infection","Unusual susceptibility to HSV"],[34317]],[5210241,"Recurrent onychomycosis",["Chronic nail candidiasis","Chronic onychomycosis","Recurrent fungal nail infection"],[2841,12203]],[5210242,"Unusual mycobacterial skin infection",[],[32162,5210110]],[5210243,"Unusual fascia infection",["Invasive fascial infection","Unusual necrotising fasciitis","Unusual necrotizing fasciitis","Unusual soft tissue necrotizing infection"],[100537,5210277]],[5210244,"Unusual cutaneous larva migrans",["CLM","Creeping eruption","Hookworm-related cutaneous larva migrans"],[5210234]],[5210245,"Unusual cutaneous leishmaniasis",["Unusual mucocutaneous leishmaniasis","Unusual susceptibility to cutaneous Leishmania infection"],[7408,5210234]],[5210246,"Severe gingivitis",["Invasive gingivitis","Necrotising ulcerative gingivitis","Necrotizing gingivitis"],[230]],[5210247,"Recurrent periodontitis",["Chronic periodontitis","Persistent periodontitis"],[20341]],[5210248,"Severe dental abscess",["Disseminated dental abscess","Invasive dental abscess","Severe tooth abscess"],[30757]],[5210249,"Recurrent dental abscesses",["Chronic dental abscess","Persistent dental abscess","Recurrent tooth abscesses"],[30757]],[5210250,"Severe stomatitis",["Invasive stomatitis","Necrotizing stomatitis","Severe infectious stomatitis"],[20342]],[5210251,"Recurrent stomatitis",["Chronic stomatitis","Persistent stomatitis","Recurrent infectious stomatitis"],[20342]],[5210252,"Unusual oral thrush",["Unusual oral candidiasis","Unusual oropharyngeal candidiasis"],[5210102,5210280]],[5210253,"Severe oral thrush",["Invasive oral candidiasis","Severe oropharyngeal candidiasis"],[5210252]],[5210254,"Severe pharyngitis",["Invasive pharyngitis"],[20343]],[5210255,"Severe otitis media",["Complicated otitis media","Invasive otitis media"],[388]],[5210256,"Severe otitis externa",["Invasive otitis externa","Malignant otitis externa","Necrotising otitis externa"],[410017]],[5210257,"Recurrent otitis externa",["Chronic otitis externa","Persistent otitis externa"],[410017]],[5210258,"Unusual conjunctivitis",["Unusual infectious conjunctivitis","Unusual susceptibility to conjunctivitis"],[5210101,5210137]],[5210259,"Severe conjunctivitis",["Epidemic keratoconjunctivitis (severe)","Invasive conjunctivitis","Severe infectious keratoconjunctivitis"],[5210258]],[5210260,"Recurrent conjunctivitis",["Chronic conjunctivitis","Persistent conjunctivitis","Recurrent infectious conjunctivitis"],[5210258]],[5210261,"Unusual keratitis",["Unusual corneal infection","Unusual herpetic keratitis","Unusual infectious keratitis","Unusual susceptibility to keratitis"],[5210137]],[5210262,"Severe keratitis",["Corneal ulceration due to infection","Invasive keratitis","Necrotising keratitis","Severe herpetic keratitis"],[5210261]],[5210263,"Recurrent keratitis",["Chronic keratitis","Persistent keratitis","Recurrent herpes simplex keratitis","Recurrent herpetic keratitis"],[5210261]],[5210264,"Unusual retinitis",["Unusual infectious retinitis","Unusual susceptibility to retinitis","Unusual viral retinitis"],[5210137]],[5210265,"Severe retinitis",["Invasive retinitis"],[5210264]],[5210266,"Recurrent retinitis",["Chronic retinitis","Persistent retinitis","Recurrent infectious retinitis"],[5210264]],[5210267,"Family history of unusual infection",["Family history of recurrent infection","Family history of severe infection"],[32316]],[5210268,"Family history of immune deficiency",["Familiy history of an immunodeficiency","Familiy history of primary immunodeficiency disorders (PID)","Family history of an inborn error of imunity (IEI)"],[32316]],[5210269,"Family history of autoimmunity",["Family history of autoimmune disease"],[32316]],[5210270,"Family history of death due to infection",["Family history of fatal infection"],[32316]],[5210271,"Family history of lymphoma",[],[32317]],[5210272,"Family history of leukaemia",[],[32317]],[5210273,"Maternal history of recurrent miscarriage",["Maternal history of recurrent spontaneous abortion"],[32316]],[5210274,"Unexplained sibling death",["Unexpected sibling death","Unexplained death of a sibling"],[32316]],[5210275,"Consanguinity",[],[32316]],[5210276,"Unusual mycobacterial osteomyelitis",[],[5210110,5210278]],[5210277,"Unusual musculoskeletal infection",[],[32158]],[5210278,"Unusual infectious osteomyelitis",[],[2754,5210277]],[5210279,"Unusual lymphatic system infection",[],[32158,100763]],[5210280,"Unusual oral cavity infection",[],[31815,32158]],[5210281,"Post-vaccination mumps",["Mumps vaccine virus infection","Post-MMR mumps infection"],[20085]],[5210282,"Cytomegalovirus retinitis",["CMV retinitis","Extensive CMV retinitis","Invasive CMV retinitis"],[33432,5210146,5210264]],[5210283,"Cytomegalovirus pneumonitis",["CMV interstitial pneumonia","CMV pneumonitis"],[33432,5210123,5210146]],[5210284,"Cytomegalovirus encephalitis",["CMV encephalitis"],[33432,33993,5210146]],[5210286,"Unusual EBV infection",["Unusual Epstein-Barr virus infection","Unusual susceptibility to EBV"],[34317]],[5210288,"EBV-driven HLH",["EBV-associated HLH","EBV-driven haemophagocytic lymphohistiocytosis"],[5210286]],[5210290,"Disseminated herpes simplex virus infection",["Invasive HSV infection","Severe HSV infection"],[34317]],[5210291,"Recurrent herpes simplex virus infection",["Chronic HSV infection","Persistent HSV infection"],[34317]],[5210293,"Persistent adenovirus viremia",["Chronic adenovirus viraemia","Persistent adenovirus viraemia"],[32248,33432,5210101]],[5210294,"Adenovirus colitis",[],[33432,5210101,5210182]],[5210295,"Adenovirus hepatitis",[],[33432,5210101,5210139]],[5210296,"Adenovirus encephalitis",[],[33432,33993,5210101]],[5210297,"Adenovirus pneumonitis",["Adenoviral pneumonia"],[33432,5210101,5210123]],[5210298,"Recurrent chickenpox infection",["Recurrent varicella"],[5210116]],[5210299,"Severe chickenpox infection",["Disseminated varicella","Severe varicella"],[31691,5210116]],[5210301,"VZV encephalitis",["Varicella-zoster virus encephalitis"],[33432,33993,5210116]],[5210302,"VZV pneumonitis",["VZV pneumonia","Varicella-zoster virus pneumonitis"],[33432,5210116,5210123]],[5210303,"Unusual warts",["Unusual HPV infection","Unusual susceptibility to warts"],[34317,5210232]],[5210304,"Disseminated warts",["Disseminated human papillomavirus infection"],[5210303]],[5210305,"Recurrent warts",["Recurrent human papillomavirus infection"],[5210303]],[5210306,"Chronic warts",["Persistent warts"],[33432]],[5210309,"Persistent molluscum infection",["Chronic Molluscum contagiosum infection","Recurrent molluscum"],[32163]],[5210310,"Unusual norovirus infection",["Unusual susceptibility to norovirus"],[34317]],[5210312,"Chronic norovirus infection",["Persistent norovirus infection","Recurrent norovirus infection"],[33432,5210310]],[5210313,"Unusual Aichi virus hepatitis",[],[33432,5210139]],[5210314,"Unusual enterovirus infection",["Unusual susceptibility to enterovirus"],[34317]],[5210315,"Enteroviral central nervous system infection",["Enteroviral CNS infection","Enteroviral meningoencephalitis"],[11450,33432,5210314]],[5210316,"Enteroviral sepsis",[],[20071,33432,5210314]],[5210317,"Unusual astrovirus infection",["Unusual susceptibility to astrovirus"],[34317]],[5210318,"Disseminated astrovirus infection",[],[20071,33432,5210317]],[5210319,"Astrovirus central nervous system infection",["Astrovirus CNS infection","CNS encephalitis due to astrovirus"],[11450,33432,5210317]],[5210320,"Unusual influenza infection",["Unusual susceptibility to influenza"],[34317]],[5210321,"Persitent influenza viremia",["Persistent influenza viraemia","Persitent influenza viraema"],[20071,5210320]],[5210323,"Unusual parainfluenza infection",[],[34317]],[5210325,"Recurrent parainfluenza virus infection",["Chronic parainfluenza infection","Persistent parainfluenza infection","Recurrent parainfluenza infection"],[5210323]],[5210326,"Chronic SARS-CoV-2 infection",["Chronic COVID-19","Persistent COVID-19","Persistent SARS-CoV-2 infection","Protracted COVID-19"],[34317]],[5210328,"Severe seasonal coronavirus infection",["Invasive seasonal coronavirus infection","Severe HCoV infection","Severe HCoV-229E infection","Severe HCoV-HKU1 infection","Severe HCoV-NL63 infection","Severe HCoV-OC43 infection","Severe common cold coronavirus infection"],[31691,34317]],[5210329,"Chronic seasonal coronavirus infection",["Chronic HCoV infection","Persistent HCoV shedding","Persistent seasonal coronavirus infection","Prolonged HCoV shedding"],[34317]],[5210330,"Unusual HHV6 infection",["Unusual human herpesvirus 6 infection"],[33432]],[5210331,"Unusual HHV8 infection",["Unusual Kaposi's sarcoma-associated herpesvirus infection"],[33432]],[5210332,"BK virus nephropathy",["BK nephropathy","BK polyomavirus nephropathy","Nephropathy caused by a Human polyomavirus 1 infection"],[5210104,5210135]],[5210333,"BK virus encephalitis",["BK encephalitis","Encephalitis caused by a Human polyomavirus 1 infection"],[33993,5210104]],[5210334,"Unusual JC virus infection",["Unusual Human Polyomavirus 2 infection","Unusual JC polyomavirus infection"],[33432]],[5210335,"JC nephropathy",["JC polyomavirus nephropathy","JC virus nephropathy","Nephropathy caused by a Human polyomavirus 2 infection"],[5210135,5210334]],[5210336,"JC encephalitis",["Encephalitis caused by a Human polyomavirus 2 infection","JC virus encephalitis","Progressive multifocal leukoencephalopathy (PML)"],[33993,5210334]],[5210337,"Infectious granulomatosis",[],[2955]],[5210338,"Non-infectious granulomatosis",[],[2955]],[5210339,"Caseating granulomatosis",["Necrotizing granulomatosis"],[5210337]],[5210340,"Non-caseating granulomatosis",["Non-necrotizing granulomatosis"],[5210338]],[5210341,"Granulomatous lymphocytic interstitial lung disease",["GLILD","Granulomatous-lymphocytic interstitial lung disease"],[33551]],[5210342,"Granulomatous lymphadenopathy",[],[2716,2955]],[5210343,"Granuloma annulare",[],[5210338,6000070]],[5210344,"Granulomatous synovitis",[],[2955,100769]],[5210345,"Granulomatous uveitis",[],[554,2955]],[5210346,"Granulomatous gingivitis",[],[230,2955]],[5210347,"Granulomatous iritis",[],[1101,5210345]],[5210348,"Unusual Burkholderia pseudomallei infection",["Unusual melioidosis","Unusual susceptibility to Burkholderia pseudomallei"],[32260,5210002]],[5210349,"Unusual coagulase-negative Staphylococcus infection",["Unusual CoNS infection","Unusual Staphylococcus epidermidis infection","Unusual coagulase-negative staphylococci infection","Unusual susceptibility to coagulase-negative staphylococci"],[5210001]],[5210350,"Recurrent coagulase-negative Staphylococcus infection",["Chronic coagulase-negative staphylococcus infection","Persistent coagulase-negative staphylococcus infection","Recurrent CoNS infection","Recurrent Staphylococcus epidermidis infection"],[5210349]],[5210351,"Severe coagulase-negative Staphylococcus infection",["Disseminated coagulase-negative staphylococcus infection","Invasive coagulase-negative staphylococcus infection","Severe CoNS infection","Severe Staphylococcus epidermidis infection"],[5210349]],[5210352,"Unusual Enterococcus faecalis infection",["Unusual susceptibility to Enterococcus faecalis"],[5210006]],[5210353,"Recurrent Enterococcus faecalis infection",["Chronic Enterococcus faecalis infection","Persistent Enterococcus faecalis infection","Recurrent susceptibility to Enterococcus faecalis"],[5210352]],[5210354,"Severe Enterococcus faecalis infection",["Disseminated Enterococcus faecalis infection","Invasive Enterococcus faecalis infection"],[5210352]],[5210355,"Unusual Enterococcus faecium infection",["Unusual VRE infection","Unusual susceptibility to Enterococcus faecium","Unusual vancomycin-resistant Enterococcus faecium infection"],[5210006]],[5210356,"Recurrent Enterococcus faecium infection",["Chronic Enterococcus faecium infection","Persistent Enterococcus faecium infection","Recurrent VRE infection","Recurrent susceptibility to Enterococcus faecium"],[5210355]],[5210357,"Severe Enterococcus faecium infection",["Disseminated Enterococcus faecium infection","Invasive Enterococcus faecium infection","Severe VRE infection"],[5210355]],[5210358,"Unusual Viridans Streptococci infection",["Unusual Streptococcus viridans infection","Unusual susceptibility to viridans streptococci","Unusual viridans group streptococci infection","Unusual viridans streptococcal infection"],[5210009]],[5210359,"Endocarditis caused by Streptococcus viridans infection",["Subacute bacterial endocarditis due to viridans streptococci","Viridans streptococci endocarditis"],[100584,5210358]],[5210360,"Liver abscess due to Streptococcus viridans",["Hepatic abscess due to Streptococcus viridans","Viridans streptococci liver abscess"],[100523,5210358]],[5210361,"Unusual Mycobacterium abscessus infection",["Unusual M. abscessus infection","Unusual rapid-grower mycobacterial infection","Unusual susceptibility to Mycobacterium abscessus"],[5210115]],[5210362,"Recurrent Mycobacterium abscessus infection",["Chronic Mycobacterium abscessus infection","Persistent Mycobacterium abscessus infection","Recurrent M. abscessus infection"],[5210361]],[5210363,"Severe Mycobacterium abscessus infection",["Disseminated Mycobacterium abscessus infection","Invasive Mycobacterium abscessus infection"],[5210361]],[5210364,"Unusual Mycobacterium avium complex infection",["Unusual M. avium complex infection","Unusual MAC infection","Unusual susceptibility to Mycobacterium avium complex"],[5210115]],[5210365,"Recurrent Mycobacterium avium complex infection",["Chronic MAC infection","Persistent Mycobacterium avium complex infection","Recurrent MAC infection"],[5210364]],[5210366,"Severe Mycobacterium avium complex infection",["Disseminated MAC","Disseminated Mycobacterium avium complex infection","Invasive MAC infection"],[5210364]],[5210367,"Unusual Mycoplasma infection",["Unusual Mycoplasma pneumoniae infection","Unusual Mycoplasma spp infection","Unusual susceptibility to Mycoplasma"],[5210000]],[5210368,"Recurrent Mycoplasma infection",["Chronic Mycoplasma infection","Persistent Mycoplasma infection","Recurrent Mycoplasma pneumoniae infection"],[5210367]],[5210369,"Severe Mycoplasma infection",["Disseminated Mycoplasma infection","Invasive Mycoplasma infection"],[5210367]],[5210370,"Unusual Ureaplasma infection",["Unusual Ureaplasma urealyticum infection","Unusual susceptibility to Ureaplasma"],[5210000]],[5210371,"Pulmonary cryptococcosis",["Cryptococcus lung infection","Lung cryptococcosis","Pulmonary cryptococcal infection"],[5210105,5210123]],[5210372,"Cryptococcoma",["Cryptococcal granuloma","Cryptococcal mass lesion","Cryptococcal pseudotumour"],[5210105]],[5210373,"Unusual mucormycosis",["Unusual Mucorales infection","Unusual mucor infection","Unusual susceptibility to Mucorales","Unusual zygomycosis"],[32255]],[5210374,"Unusual Talaromyces marneffei infection",["Unusual Penicillium marneffei infection","Unusual penicilliosis","Unusual susceptibility to Talaromyces marneffei","Unusual talaromycosis"],[32255]],[5210375,"Unusual dermatophyte infection",["Unusual Trichophyton infection","Unusual deep dermatophytosis","Unusual dermatophytosis","Unusual susceptibility to dermatophytes"],[20100,32162]],[5210376,"Recurrent dermatophyte infection",["Chronic dermatophyte infection","Persistent dermatophyte infection","Recurrent dermatophytosis"],[5210375]],[5210377,"Increased CD4+ TEMRA T cell proportion",[],[410379]],[5210378,"Unusual mold infection",["Unusual Fusarium infection","Unusual Lomentospora prolificans infection","Unusual Scedosporium infection","Unusual filamentous fungal infection","Unusual invasive mould infection","Unusual mould infection","Unusual non-Aspergillus mould infection","Unusual susceptibility to moulds"],[32255]],[5210379,"Unusual Blastomyces dermatitidis infection",["Unusual North American blastomycosis","Unusual blastomycosis","Unusual susceptibility to Blastomyces dermatitidis"],[32255]],[5210380,"Recurrent Blastomyces dermatitidis infection",["Chronic blastomycosis","Persistent Blastomyces dermatitidis infection","Recurrent blastomycosis"],[5210379]],[5210381,"Severe Blastomyces dermatitidis infection",["Disseminated blastomycosis","Invasive blastomycosis","Severe blastomycosis"],[5210379]],[5210382,"Unusual Coccidioides infection",["Unusual Coccidioides immitis infection","Unusual Coccidioides posadasii infection","Unusual coccidioidomycosis","Unusual susceptibility to Coccidioides","Unusual valley fever"],[32255]],[5210383,"Recurrent Coccidioides infection",["Chronic coccidioidomycosis","Persistent Coccidioides infection","Recurrent coccidioidomycosis"],[5210382]],[5210384,"Severe Coccidioides infection",["Disseminated coccidioidomycosis","Invasive coccidioidomycosis","Severe coccidioidomycosis"],[5210382]],[5210385,"Unusual Paracoccidioides brasiliensis infection",["Unusual South American blastomycosis","Unusual paracoccidioidomycosis","Unusual susceptibility to Paracoccidioides brasiliensis"],[32255]],[5210386,"Recurrent Paracoccidioides brasiliensis infection",["Chronic paracoccidioidomycosis","Persistent Paracoccidioides brasiliensis infection","Recurrent paracoccidioidomycosis"],[5210385]],[5210387,"Severe Paracoccidioides brasiliensis infection",["Disseminated paracoccidioidomycosis","Invasive paracoccidioidomycosis","Severe paracoccidioidomycosis"],[5210385]],[5210389,"Recurrent Histoplasma capsulatum infection",["Chronic histoplasmosis","Persistent Histoplasma capsulatum infection","Recurrent histoplasmosis"],[32256]],[5210391,"Unusual Candida auris infection",["Unusual C. auris infection","Unusual susceptibility to Candida auris"],[5210102]],[5210392,"Chronic Candida auris infection",["Chronic C. auris infection","Persistent Candida auris infection","Recurrent Candida auris infection"],[5210391]],[5210393,"Severe Candida auris infection",["Candida auris candidaemia","Disseminated Candida auris infection","Invasive Candida auris infection"],[5210391]],[5210394,"HSV hepatitis",["Fulminant HSV hepatitis","Herpes simplex virus hepatitis","Herpetic hepatitis"],[6562,5210240]],[5210395,"VZV meningitis",["VZV-associated meningitis","Varicella-zoster virus meningitis","Zoster meningitis"],[5210116,5210216]],[5210396,"Giant molluscum",["Atypical molluscum","Giant molluscum contagiosum","Large molluscum lesion"],[32163]],[5210397,"Unusual HHV7 infection",["Unusual human herpesvirus 7 infection","Unusual susceptibility to HHV-7"],[33432]],[5210398,"BK virus cystitis",["BK cystitis","BK haemorrhagic cystitis","BK polyomavirus cystitis","BK virus-associated haemorrhagic cystitis"],[5210104,5210192]],[5210399,"Unusual poliovirus infection",["Unusual chronic poliovirus excretion","Unusual iVDPV excretion","Unusual immunodeficiency-associated VDPV","Unusual susceptibility to poliovirus","Unusual vaccine-derived poliovirus (VDPV) infection"],[33432,5210314]],[5210400,"Chronic poliovirus excretion",["Chronic vaccine-derived poliovirus excretion","Immunodeficiency-associated vaccine-derived poliovirus excretion","Long-term poliovirus excretion","Persistent poliovirus shedding","iVDPV excretion"],[5210399]],[5210401,"Severe rotavirus infection",["Severe rotavirus gastroenteritis","Unusual susceptibility to rotavirus","Unusual vaccine-derived rotavirus infection"],[31691,34317]],[5210402,"Unusual respiratory syncytial virus infection",["Unusual RSV bronchiolitis","Unusual RSV infection","Unusual RSV pneumonia","Unusual susceptibility to respiratory syncytial virus"],[33432]],[5210403,"Severe respiratory syncytial virus infection",["Disseminated RSV infection","Invasive RSV infection","Severe RSV bronchiolitis","Severe RSV infection","Severe RSV pneumonia"],[31691,5210402]],[5210404,"Chronic respiratory syncytial virus infection",["Chronic RSV infection","Persistent RSV infection","Persistent RSV shedding","Recurrent RSV infection"],[5210402]],[5210405,"Chronic rhinovirus infection",["Unusual chronic rhinovirus shedding","Unusual human rhinovirus infection","Unusual susceptibility to rhinovirus"],[33432]],[5210406,"Unusual human metapneumovirus infection",["Unusual hMPV infection","Unusual hMPV pneumonia","Unusual metapneumovirus infection","Unusual susceptibility to human metapneumovirus"],[33432]],[5210407,"Toxoplasma eye infection",["Ocular toxoplasmosis","Toxoplasma chorioretinitis","Toxoplasma retinitis","Toxoplasmic retinochoroiditis"],[5210127,5210137]],[5210408,"BCG-associated disease",["Adverse reaction to BCG vaccination","BCG vaccine adverse event","BCG-itis","BCG-osis","Disseminated BCG infection"],[20085,5210110]],[5210409,"Abnormal effector memory CD4+ T cell proportion",[],[410379]],[5210410,"Abnormal central memory CD4+ T cell proportion",[],[410379]],[5210411,"Decreased total T cell number",["Decreased numbers of circulating T cells","Reduced number of T cells"],[11839]],[5210412,"Increased total T cell number",["Increase in T cell number"],[11839]],[5210413,"Decreased total T cell proportion",["Decreased T cell percentage","Decreased percentage of CD3+ lymphocytes","Reduced proportion of T cells"],[5210411]],[5210414,"Increased total T cell proportion",["Increased T cell percentage","Increased percentage of CD3+ lymphocytes"],[5210412]],[5210415,"Decreased total CD4+ T cell number",[],[25183]],[5210416,"Increased CD4+ T cell number",[],[25183]],[5210417,"Increased total CD4+ T cell count",["CD4 lymphocytosis","CD4+ T-cell lymphocytosis","Elevated CD4 count","Increased absolute CD4 count","Increased circulating CD4+ T cell count"],[5210416]],[5210418,"Decreased total CD4+ T cell count",["CD4 T lymphocytopenia","CD4 lymphopenia","CD4+ T cell lymphopenia","Decreased absolute CD4 count","Decreased circulating CD4+ T cell count"],[5210415]],[5210419,"Autoimmune cytopenia",[],[2960]],[5210420,"Severe eczema",["Persistent eczema"],[964]],[5210421,"Autoimmune hepatitis",[],[2960,12115]],[5210422,"Non-infectious encephalitis",[],[33429]],[5210423,"Autoimmune encephalitis",[],[2960,5210422]],[5210424,"Increased total CD8+ T cell number",[],[31393]],[5210425,"Decreased total CD8+ T cell number",[],[31393]],[5210426,"Decreased total CD8+ T cell count",["CD8 lymphopenia","CD8+ T-cell lymphopenia","Decreased absolute CD8 count","Decreased circulating CD8+ T cell count","Low CD8 count"],[5210425]],[5210427,"Increased total CD8+ T cell count",["CD8 lymphocytosis","CD8+ T-cell lymphocytosis","Elevated CD8 count","Increased absolute CD8 count"],[5210424]],[5210428,"HSV pneumonia",["Herpes simplex pneumonia","Herpes simplex virus pneumonia","Pneumonia due to herpes simplex virus"],[5210240]],[5210429,"Recurrent Haemophilus influenzae conjunctivitis",[],[5376,5210260]],[5210430,"Hindfoot deformity",["Rearfoot deformity"],[1760]],[6000000,"Left-right disorientation",["Left-right confusion","Right-left confusion","Right-left disorientation"],[5200423]],[6000001,"Elevated circulating DNAJB9 concentration",["DNAJB9 protein level in serum elevated","Elevated DnaJ homolog subfamily B member 9 concentration","Elevated DnaJ homolog subfamily B member 9 level","Elevated DnaJ homolog subfamily B member 9 level in blood","Increased DnaJ homolog subfamily B member 9 concentration","Increased DnaJ homolog subfamily B member 9 level","Increased DnaJ homolog subfamily B member 9 level in blood"],[10876]],[6000002,"Olecranon fracture",[],[4032,41219]],[6000003,"History of mastectomy",[],[430103]],[6000004,"Lymphangiosarcoma",[],[12797]],[6000005,"Exposure to inhaled lipids",[],[4000110]],[6000006,"Holster sign",[],[1029]],[6000007,"Salivary basal cell adenoma",[],[100684]],[6000008,"Hemidiaphragm elevation",["Elevated hemidiaphragm"],[40045]],[6000009,"Cerebriform connective tissue nevus",[],[3549]],[6000010,"Linear Hyperpigmentation along Blaschko's lines",[],[7546]],[6000011,"Guilt",["Inappropriate sense of responsibility","Self-blame","Unfounded sense of culpability","Excessive self-reproach","Unwarranted self-blame","Obsessive remorse over imagined wrongs","Unrealistic self-blame","Feelings of worthlessness"],[31467]],[6000012,"Mediastinal shift",[],[45026]],[6000013,"Bendopnea",[],[2094]],[6000014,"Pain worse when lying flat",["Pain worse when lying down"],[25285]],[6000015,"Tympanic membrane hypermobility",["Hypercompliant tympanic membrane"],[31704]],[6000016,"Elevated circulating vitamin B12 concentration",["Elevated plasma vitamin B12 level","Elevated serum cobalamin level","Elevated serum vitamin B12 level"],[4341]],[6000017,"Elevated circulating sFASL concentration",[],[10876]],[6000018,"Internal anal sphincter achalasia",["Anal achalasia"],[34916]],[6000019,"Anthracycline exposure",[],[4000112]],[6000020,"Binge drinking",[],[430037]],[6000021,"Decreased circulating thrombopoietin concentration",[],[3117]],[6000022,"Collagenoma",[],[100898]],[6000023,"Lack of sufficient daily physical activity",["physical inactivity"],[32443]],[6000024,"Synesthesia",[],[11446]],[6000025,"Dark cerumen",["Dark earwax","Pigmented cerumen"],[30790]],[6000026,"History of spicy food intake",[],[4000123]],[6000027,"Oil-drop brown pigmentation of the corneal limbus",[],[7832]],[6000028,"Hazardous alcohol use",[],[5200329]],[6000029,"Social anxiety",[],[739]],[6000030,"Placidity",[],[5200261]],[6000031,"Phaeohyphomycosis",[],[32255]],[6000032,"Autophony",[],[364]],[6000033,"High altitude exposure",[],[4000110]],[6000034,"History of recent hospitalization",[],[4000144]],[6000035,"Palpitations terminated by Valsava maneuver",[],[25254]],[6000036,"Long telomere length",["Elongated telomeres"],[31412]],[6000037,"Reduced circulating aromatic L-amino acid decarboxylase activity",["Reduced circulating 5-hydroxytryptophan decarboxylase activity","Reduced circulating DOPA decarboxylase, activity"],[12379]],[6000038,"Subclavian artery stenosis",[],[31251]],[6000039,"Pulsatile liver",[],[31865]],[6000040,"Neuropathic pain",[],[25280]],[6000041,"Repeated cold water exposure",[],[4000110]],[6000042,"Tinnitus exacerbated by swallowing",[],[25285]],[6000043,"Rhythmic movements of the tympanic membrane",[],[31704]],[6000044,"Elongated temporal styloid process",["Temporal styloid process elongated"],[9911]],[6000045,"Ameliorated by nitroglycerin",[],[34536]],[6000046,"Pulsus paradoxus",["Kussmaul pulse","Paradoxical pulse","Paradoxical pulse volume"],[32552]],[6000047,"Chest pain triggered by palpation",["Chest pain reproducible on palpation"],[25204]],[6000048,"Chest pain described as pressure",[],[25280]],[6000049,"Chest pain described as ripping or tearing",[],[25280]],[6000050,"Ameliorated by flexion",[],[25254]],[6000051,"Located on the chest",[],[6000425]],[6000052,"Localized to the penis",[],[12838]],[6000053,"Snowstorm pattern of uterus on ultrasound",[],[31105]],[6000054,"Multiparity",[],[32467]],[6000055,"Exposure to aquatic animals",[],[4000110]],[6000056,"Superficial blush-like subcutaneous fatty lesions",[],[1001]],[6000057,"Dermal multinucleated giant cells",["Multinucleated giant cells in skin"],[34924]],[6000058,"Exacerbation of eyelid lesion by crying",[],[25285]],[6000059,"Localized to upper eyelid",["Superior palpebral location","Upper lid location"],[6001266]],[6000060,"Aerophagia",[],[11458]],[6000061,"Vaginal passage of hydatidiform mole tissue",["Solid tissue passed by the vagina"],[34268]],[6000062,"Abnormal nipple discharge",[],[31094]],[6000063,"Hepatolithiasis",[],[11040]],[6000064,"Excessive eructation",["Excessive belching","Excessive burping"],[25142]],[6000065,"Esophageal fibrosis",[],[2031]],[6000066,"Triggered by extension of leg",["Straight leg raising produces pain"],[25204]],[6000067,"Increased myocardial pyrophosphate uptake",[],[1637]],[6000068,"Ameliorated by nerve block",[],[25254]],[6000069,"Brief tear break-up time",[],[632]],[6000070,"Cutaneous granuloma",[],[32252]],[6000071,"Heterotopic dermal ossification",[],[34924]],[6000072,"Thinning of outer muscular layer of small bowel",[],[2244]],[6000073,"Renal lymphangiectasia",["Hygroma renale","Peripelvic lymphangiectasia","Renal lymphangiomatosis"],[12210]],[6000074,"Pharyngeal myxoma",[],[100638]],[6000075,"Subcutaneous arteriolar thrombosis",[],[1977]],[6000076,"Renal vasculitis",[],[33835]],[6000077,"Pancreatic islet beta cell iron deposition",[],[12090]],[6000078,"Nasal hamartoma",[],[10566]],[6000079,"Metachromatic intraneuronal lipid deposits",["Peripheral nerve metachromasia"],[759]],[6000080,"Reduced phosphoserine phosphatase activity in cultured fibroblasts",[],[4000195]],[6000081,"Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts",["Alpha-aminoadipic semialdehyde synthase low in fibroblasts"],[4000195]],[6000082,"Reduced hepatic beta-ureidopropionase activity",["Liver biopsy: beta-ureidopropionase activity low"],[34685]],[6000083,"Reduced hepatic dihydropyrimidinase activity",[],[34685]],[6000084,"Sunken fontanelle",[],[11328]],[6000085,"Angulation of penis",["Bent penis"],[36]],[6000086,"History of urethral procedure or catheterization",[],[430103]],[6000087,"Penile swelling",["Penile edema","Penile oedema"],[36]],[6000088,"Reduced muscle alpha-1,4-glucosidase activity",[],[34526]],[6000089,"Brown tumor",["Osteitis fibrosa cystica"],[11842]],[6000090,"Dermal flame figures",[],[34924]],[6000091,"Postpartum exacerbation",["Symptoms worsen in post-partum state"],[25285]],[6000092,"Retinoid exposure",["Exposure to retinoids"],[4000112]],[6000093,"Propylthiouracil exposure",["Exposure to propylthiouracil"],[4000112]],[6000094,"History of outdoor activities",[],[32443]],[6000095,"Draining sinus tract in skin",["Discharging sinus","Draining tract in skin","Tract under skin draining associated abscess"],[11355]],[6000096,"Corneal transplant history",["History of corneal transplantation"],[430103]],[6000097,"Spontaneous lens capsule rupture",[],[517]],[6000098,"Contact lens wearer",[],[32443]],[6000099,"Airway mucosal thickening",[],[12253]],[6000100,"Hyperpolarized transepithelial nasal potential difference",[],[2795]],[6000101,"Corneopalpebral synechiae",[],[481,492]],[6000102,"Breast intraductal papilloma",[],[100013]],[6000103,"Precipitous labor",["Precipitous delivery"],[2686]],[6000104,"Twin pregnancy",[],[2686]],[6000105,"Vaginal mass",[],[142]],[6000106,"Costovertebral angle tenderness",["Costovertebral angle pain"],[12531]],[6000107,"Cervical motion tenderness",["Chandelier sign"],[12531]],[6000108,"Abnormal urethral discharge",["Abnormal penile discharge"],[795]],[6000109,"Supernumerary finger flexion crease",[],[6143]],[6000110,"Large joint predominance",[],[12836]],[6000111,"Monoarticular",[],[12836]],[6000112,"Hockey-stick palmar crease",["Hockey-stick crease"],[10490]],[6000113,"Elevated urinary succinyladenosine level",[],[33161]],[6000114,"Elevated urinary 5-hydroxymethyluracil level",["5-hydroxymethyluracil high in urine"],[33162]],[6000115,"Decreased urine creatinine level",[],[33354]],[6000116,"Elevated urinary deoxyuridine level",["Deoxyuridine high in urine"],[33162]],[6000118,"Elevated urinary dihydrouracil level",["Dihydrouracil high in urine"],[33162]],[6000119,"Elevated urinary dihydrothymine level",["Dihydrothymine in urine high"],[33162]],[6000120,"Elevated urinary sulfatide level",[],[33354]],[6000121,"Elevated urinary xanthurenic acid level",[],[40156]],[6000122,"Increased urinary N-acetylglucosamine-rich oligosaccharide level",[],[10471]],[6000123,"Elevated urinary 2'-deoxyadenosine level",["2'-deoxyadenosine (dAdo) elevated in urine","Elevated urinary dAdo level"],[33161]],[6000124,"Positive 2,4-dinitrophenylhydrazine urine test",[],[33456]],[6000125,"Elevated urinary dolichol level",["Dolichol levels high in urine"],[6000531]],[6000126,"Decreased urinary bile acid level",[],[31980]],[6000127,"Elevated urinary creatine/creatinine ratio",["Increased urine Cr/Crn ratio"],[33354]],[6000128,"Elevated urinary thymidine level",[],[33162]],[6000129,"Elevated urinary glutarylglycine level",[],[40156]],[6000130,"Elevated urinary indican level",[],[33354]],[6000131,"Dacrolith",["Lacrimal calculus","Tear stone"],[614]],[6000132,"Reduced erythrocyte gamma-glutamyl cysteine synthetase activity",["Gamma-glutamyl cysteine synthetase low in erythrocytes"],[30272]],[6000133,"Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity",["NADH-cytochrome b5 reductase low"],[30272]],[6000134,"Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts",[],[4000195]],[6000135,"Low semen volume",["Hypospermia"],[12874]],[6000136,"Elbow localization",[],[12838]],[6000137,"Enlarged lunula",["Macrolunula","Nails: lunulae enlarged"],[1597]],[6000138,"Heel localization",["Heel predominance"],[12838]],[6000139,"Splinter hemorrhages",[],[1597]],[6000140,"Lateral thrust",["Varus thrust"],[34670]],[6000141,"Cerebral contusion",[],[2060]],[6000142,"Fecolith",["Coprolith","Fecaloma","Stercolith"],[2250]],[6000143,"Appendicitis",[],[2250]],[6000144,"Left ventricular aneurysm",[],[1711]],[6000145,"Boot-shaped cardiac silhouette",["Boot shaped cardiac silhouette"],[1627]],[6000146,"Hydrosalpinx",[],[11027]],[6000147,"Elevated methylhex-dienedioic level by MRS",[],[12705]],[6000148,"Perihepatic enhancement",["Peri-hepatic enhancement"],[410042]],[6000149,"Reduced in vitro contracture test threshold",["Caffeine in vitro contracture test positive","Halothane in vitro contracture test positive"],[11804]],[6000150,"Reduced F-wave amplitude",[],[30179]],[6000151,"Enlarged peroxisomes",["Peroxisomal enlargement"],[34552]],[6000152,"Adrenocortical hyperplasia",[],[849]],[6000153,"Lymphocytic infiltration of the parotid gland",[],[197]],[6000154,"Bone marrow granuloma",[],[5561]],[6000155,"Neuronal intranuclear inclusion bodies",[],[12757,20068]],[6000156,"Pancreatic atrophy",[],[12090]],[6000157,"Decreased pancreatic acinar cell density",["Pancreatic biopsy: acinar structures reduced"],[12090]],[6000158,"Unesterified cholesterol accumulation in cultured fibroblasts",["Positive filipin test"],[4356]],[6000160,"Splenic lipid-laden macrophage infiltration",["Spleen biopsy: lipid-laden macrophages","Splenic foamy cells"],[25408]],[6000161,"Reduced hepatic N-acetylglutamate synthase activity",[],[34685]],[6000162,"Excessive licorice consumption",[],[4000123]],[6000163,"Shoulder localization",[],[12838]],[6000164,"Pregnancy conceived despite intrauterine device",[],[2686]],[6000165,"Maternal folate deficiency",[],[2686]],[6000166,"Maternal zinc deficiency",[],[2686]],[6000167,"Use of intrauterine device",[],[32467]],[6000168,"History of recent central venous catheter",[],[4000144]],[6000169,"History of total parenteral nutrition dependence",[],[4000144]],[6000170,"Pain alleviated by testicle elevation",["Prehn's sign","Testicle elevation relieves pain"],[25254]],[6000171,"Abdominal wall mass",[],[4298]],[6000172,"Tympanic membrane bulging",[],[40090]],[6000173,"Ear pain exacerbated by manipulating tragus or pinna",[],[25285]],[6000174,"Lateral neck mass",[],[25668]],[6000175,"Occipital location",[],[12838]],[6000176,"Anterior neck swelling",[],[25668]],[6000177,"Uvular swelling",[],[172]],[6000179,"History of gastric bypass surgery",[],[430103]],[6000180,"Triggered by volatile organic compounds",[],[25204]],[6000181,"History of radiation therapy",[],[32443]],[6000182,"Absent otoacoustic emissions",[],[31704]],[6000183,"Thickened tympanic membrane",[],[40090]],[6000184,"Filum terminale lipoma",["Fatty filum terminale","LFT","Lipoma of filum terminale","Lipoma of the filum terminale"],[6000590]],[6000185,"Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio",[],[11731]],[6000186,"Anti-soluble liver antigen/liver pancreas antibody positivity",["Anti-SLA/LP"],[30057]],[6000187,"Anti-thrombospondin type I domain-containing 7A antibody positivity",["Anti-THSD7A antibody","Anti-THSD7A antibody present in blood"],[30057]],[6000188,"Antisperm antibody positivity",[],[30057]],[6000189,"Decreased circulating ficolin-3 concentration",["Decreased ficolin-3 concentration","Decreased ficolin-3 level","Decreased ficolin-3 level in blood","Reduced ficolin-3 concentration","Reduced ficolin-3 level","Reduced ficolin-3 level in blood"],[10876]],[6000190,"Abnormal seminal vesicle morphology",[],[22]],[6000191,"Seminal vesicle cyst",[],[6000190]],[6000192,"Silica dust exposure",[],[4000110]],[6000193,"Anti-osteoprotegerin antibody positivity",["Anti-OPG antibody positivity"],[30057]],[6000194,"History of adrenalectomy",[],[430103]],[6000195,"Elevated mitochondrial citrate synthase activity",[],[34526]],[6000196,"Reduced muscle lactate dehydrogenase activity",["Muscle biopsy: lactate dehydrogenase low"],[34526]],[6000197,"Reduced muscle phosphoglycerate mutase activity",[],[34526]],[6000198,"Reduced muscle phosphorylase kinase activity",[],[34526]],[6000199,"Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts",[],[4000195]],[6000200,"Reduced hepatic glucose-6-phosphatase activity",["Reduced liver G6PC activity"],[34685]],[6000201,"Reduced hepatic glucose-6-phosphate translocase activity",[],[34685]],[6000202,"Cerebrospinal fluid erythrocytes",[],[2921]],[6000203,"Elevated CSF cholestanol concentration",["Elevated CSF cholestanol"],[25454]],[6000204,"Elevated CSF apolipoprotein B concentration",["Apolipoprotein B high in CSF"],[25454]],[6000205,"Elevated CSF myelin basic protein concentration",["Myelin basic protein high in CSF"],[25456]],[6000206,"Reduced CSF pyridoxal-5'-phosphate concentration",["Pyridoxal-5'-phosphate low in CSF"],[25454]],[6000207,"Elevated CSF thymine concentration",["Thymine high in CSF"],[25454]],[6000208,"Elevated CSF 5-hydroxymethyluracil concentration",["5-hydroxymethyluracil high in CSF"],[25454]],[6000209,"Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration",["N-carbamyl-beta-aminoisobutyric acid high in CSF"],[25454]],[6000210,"Elevated CSF N-carbamyl-beta-alanine concentration",["N-carbamyl-beta-alanine high in CSF"],[25454]],[6000211,"Elevated CSF dihydrouracil concentration",["Dihydrouracil high in CSF"],[25454]],[6000212,"Elevated CSF dihydrothymine concentration",["Dihydrothymine high in CSF"],[25454]],[6000213,"Elevated circulating angiotensin-converting enzyme concentration",["Angiotensin-converting enzyme (ACE) high in blood","Elevated angiotensin-converting enzyme concentration","Elevated angiotensin-converting enzyme level","Elevated angiotensin-converting enzyme level in blood","Increased angiotensin-converting enzyme concentration","Increased angiotensin-converting enzyme level","Increased angiotensin-converting enzyme level in blood"],[11021]],[6000214,"Decreased 3-hydroxyisobutyrate dehydrogenase activity",[],[12379]],[6000215,"Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity",["3-hydroxyisobutyryl-CoA hydrolase deficiency"],[12379]],[6000216,"Reduced HMG-CoA lyase activity in cultured fibroblasts",[],[4000195]],[6000217,"Reduced circulating acyl-CoA oxidase activity",[],[12379]],[6000218,"Reduced circulating xanthine oxidase activity",["Xanthine oxidase low"],[12379]],[6000219,"Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts",["Methylmalonic semialdehyde dehydrogenase deficiency"],[4000195]],[6000220,"Pharyngeal mass",[],[33151]],[6000221,"Positive stool occult blood test",["Positive faecal occult blood test","Positive fecal occult blood test"],[31685]],[6000222,"Painful defecation",["Pain associated with bowel movements"],[12531]],[6000223,"Recent history of caustic substance ingestion",[],[4000144]],[6000224,"Delayed passage of meconium",[],[1197]],[6000225,"Single second heart sound",[],[31661]],[6000226,"Elevated aortic transvalvular pressure gradient",[],[30964]],[6000227,"Prosthetic heart valve",[],[430103]],[6000228,"Failure to increase oxygen saturation on hyperoxia test",[],[11025]],[6000229,"High-set nipples",[],[4404]],[6000230,"Decreased muscle caveolin-3 level",["Decreased muscle caveolin-3 expression"],[34370]],[6000231,"Abnormal tissue enzyme concentration or activity",["Abnormal tissue enzyme activity"],[34684]],[6000232,"Splenic necrosis",[],[25408]],[6000233,"Carcinoid tumor of the pancreas",[],[2894]],[6000234,"Elevated circulating dihydroxyphenylacetic acid concentration",["Elevated circulating DOPAC concentration"],[33405]],[6000235,"Inappropriately low concentration of acetoacetate",[],[12337]],[6000236,"Inappropriately low concentration of beta-hydroxybutyrate",[],[12337]],[6000237,"Elevated circulating 3-hydroxybutyryl-carnitine concentration",[],[35016]],[6000238,"Elevated CSF 5-amino-4-imidazolecarboxyamide concentration",["Elevated CSF AICA-riboside concentration"],[25454]],[6000239,"Elevated circulating tumor necrosis factor alpha concentration",[],[11112]],[6000240,"Reduced circulating pyrimidine 5-prime-nucleotidase activity",[],[12379]],[6000241,"Diminished prolactin response to thyrotrophin-releasing hormone stimulation",[],[33080]],[6000242,"Decreased circulating complement component 1s concentration",["C1s low in blood"],[4431]],[6000243,"Decreased circulating corticosteroid-binding globulin concentration",["Decreased corticosteroid-binding globulin concentration","Decreased corticosteroid-binding globulin level","Decreased corticosteroid-binding globulin level in blood","Reduced circulating cortisol-binding globulin concentration","Reduced corticosteroid-binding globulin concentration","Reduced corticosteroid-binding globulin level","Reduced corticosteroid-binding globulin level in blood"],[10876]],[6000244,"Decreased circulating thyroglobulin concentration",["Decreased thyroglobulin concentration","Decreased thyroglobulin level","Decreased thyroglobulin level in blood","Reduced thyroglobulin concentration","Reduced thyroglobulin level","Reduced thyroglobulin level in blood"],[25483]],[6000245,"Elevated circulating granulocyte-macrophage colony-stimulating factor concentration",["Elevated circulating GM-CSF concentration","Elevated granulocyte-macrophage colony-stimulating factor concentration","Elevated granulocyte-macrophage colony-stimulating factor level","Elevated granulocyte-macrophage colony-stimulating factor level in blood","GMCSF high in blood","Increased granulocyte-macrophage colony-stimulating factor concentration","Increased granulocyte-macrophage colony-stimulating factor level","Increased granulocyte-macrophage colony-stimulating factor level in blood"],[10876]],[6000246,"Elevated CSF D-2-hydroxyglutaric acid concentration",[],[500183]],[6000247,"Esophageal mass",[],[2031]],[6000248,"Bursa fluid crystals",["Bursa aspiration: crystals present","Crystals in bursa fluid"],[25231]],[6000249,"Enlarged gastric folds",["Giant gastric folds"],[2577]],[6000250,"Gastric intraepithelial lymphocytosis",[],[4295]],[6000251,"Small intestinal intraepithelial lymphocytosis",[],[25129]],[6000252,"Fetal lung hyperechogenicity",[],[34243]],[6000253,"Necrotizing vasculitis",[],[34785]],[6000254,"Abnormal proximal convoluted tubule morphology",[],[91]],[6000255,"Demonstration of Leishmania in tissue",[],[430030]],[6000256,"Pneumocystis cysts in respiratory secretions",[],[430107]],[6000257,"Spinal cord granuloma",[],[2143]],[6000258,"Impaired folate absorption",[],[100508]],[6000259,"Positive hydrogen breath test",["Positive glucose hydrogen breath test","Positive glucose or lactulose hydrogen breath test","Positive lactulose hydrogen breath test"],[12719]],[6000260,"History of recent plant thorn skin puncture",[],[4000144]],[6000261,"Absent circulating kappa chain-bearing immunoglobulin",[],[10701]],[6000262,"Pseudoglioma",[],[4327]],[6000263,"Papillary dermal edema",[],[34924]],[6000264,"Fetal tachycardia",[],[1649,34190]],[6000265,"Elevated urinary 3-hydroxykynurenine level",[],[33098]],[6000266,"2-oxoadipic aciduria",["Alpha-oxoadipic acid high in urine"],[3215]],[6000267,"Elevated circulating methionine sulfoxide concentration",[],[33108]],[6000268,"Elevated circulating pipecolic acid concentration",["Hyperpipecolatemia","Pipecolic acid high in blood"],[10996]],[6000269,"Elevated urinary pipecolic acid level",[],[33303]],[6000270,"Elevated CSF saccharopine concentration",["Saccharopine present in CSF"],[500184]],[6000271,"Elevated circulating glycylproline concentration",[],[33386]],[6000272,"Elevated circulating octanoylcarnitine concentration",["Elevated circulating C8:0 acylcarnitine concentration","Elevated circulating O-octanoylcarnitine concentration","Elevated octanoylcarnitine concentration","Elevated octanoylcarnitine level","Elevated octanoylcarnitine level in blood","Increased octanoylcarnitine concentration","Increased octanoylcarnitine level","Increased octanoylcarnitine level in blood"],[35017]],[6000273,"Elevated circulating decanoylcarnitine concentration",["C10: decanoylcarnitine high in blood","Elevated circulating C10:0 acylcarnitine concentration","Elevated circulating o-decanoylcarnitine concentration","Elevated decanoylcarnitine concentration","Elevated decanoylcarnitine level","Elevated decanoylcarnitine level in blood","Increased decanoylcarnitine concentration","Increased decanoylcarnitine level","Increased decanoylcarnitine level in blood"],[35017]],[6000274,"2--hydroxyphenylacetic aciduria",[],[40156]],[6000275,"4-hydroxyphenyllactic aciduria",[],[40156]],[6000277,"Elevated CSF beta-alanine concentration",[],[500184]],[6000278,"Elevated circulating 2-aminoadipic acid concentration",[],[10995]],[6000279,"Elevated urinary N-carbamoyl-beta-alanine level",[],[33098]],[6000280,"Elevated CSF cystathionine concentration",[],[500184]],[6000281,"Elevated urinary gamma-glutamylphenylalanine level",[],[33098]],[6000282,"Elevated circulating aspartylglucosamine concentration",["Aspartylglucosamine high in blood"],[33109]],[6000283,"Elevated urinary saccharopine level",["Saccharopinuria"],[33098]],[6000284,"Tectal plate enlargement",["Quadrigeminal plate enlargement","Tectal enlargement"],[2363]],[6000285,"Retroperitoneal mass",[],[2012]],[6000286,"Focal T1 hyperintense brainstem lesion",[],[12747]],[6000287,"Subchondral fracture",[],[4000042]],[6000288,"Deep neck abscess",[],[25615]],[6000289,"Epiglottic enlargement",["Epiglottis thumb sign","Swollen epiglottis"],[5483]],[6000290,"Prevertebral space enlargement",["Increased pre-vertebral space"],[33151]],[6000291,"Third cranial nerve thickening",["Oculomotor nerve thickening"],[25735]],[6000292,"Elevated tissue sphingomyelin concentration",[],[34370]],[6000293,"History of recent iodated contrast medium administration",[],[4000144]],[6000294,"Difficulty passing nasogastric tube",[],[430103]],[6000295,"Persistent falcine venous sinus",[],[33723]],[6000296,"Penis uncircumcised",["Foreskin present","Prepuce present"],[430103]],[6000297,"History of facial cosmetic use",["Use of makeup on face"],[32443]],[6000298,"Snapping sensation at metacarpophalangeal joint",[],[34430]],[6000299,"Forearm pain",[],[12531]],[6000300,"Rotational fracture",[],[4000042]],[6000301,"Localized over bony prominences",[],[12838]],[6000302,"History of compressive footwear",[],[32443]],[6000303,"Decreased skin turgor",[],[11121]],[6000304,"Recent foraged mushroom consumption",[],[4000144]],[6000305,"Proximal to distal progression",[],[11008]],[6000306,"Autonomic-voluntary dissociation of facial movements",[],[12638]],[6000307,"Jaw mass",[],[30791]],[6000308,"Excessive nocturnal light exposure",[],[32443]],[6000309,"Menstruating female between menarche and menopause",[],[32443]],[6000310,"Preterm premature rupture of membranes",["PPROM"],[1788]],[6000311,"History of abdominal surgery",[],[32443]],[6000312,"Thickened Descemet membrane",["Thick Descemet membrane"],[11490]],[6000313,"Incomplete right bundle branch block",[],[11710]],[6000314,"Perimenopausal onset",[],[3674]],[6000315,"Postmenopausal onset",[],[3674]],[6000316,"Spastic monoplegia",[],[34353]],[6000317,"Mosaic attenuation pattern in lung",[],[31983]],[6000318,"Elevated aldosterone:renin ratio",[],[847]],[6000319,"Meteorism",[],[11458]],[6000320,"Failure to elevate ammonia on ischemic exercise",[],[11025]],[6000321,"Labile Hypertension",[],[822]],[6000322,"Absent axon flare response after intradermal histamine injection",[],[32120]],[6000323,"Reduced sympathoneural responses to the cold pressor test",[],[12332]],[6000324,"Positive stool Giardia antigen test",[],[34866]],[6000325,"Excessive blood loss during delivery",[],[32467]],[6000326,"Cardiac valve vegetations",[],[1654]],[6000327,"Thoracic cage flatness",["Flat chest"],[1547]],[6000328,"Absent zona pellucida",[],[20156]],[6000329,"Umbilical cord prolapse",[],[10881]],[6000330,"Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine",[],[33384]],[6000331,"Elevated urinary thymine level",[],[33162]],[6000332,"Elevated urinary indoleacetic acid level",[],[40156]],[6000333,"Reduced hepatic phosphorylase kinase activity",["Decreased hepatic phosphorylase kinase activity"],[34685]],[6000334,"Reduced hepatic ornithine transcarbamylase activity",[],[34685]],[6000335,"Elevated urinary quinolinic acid level",[],[33162]],[6000336,"Rectal duplication",[],[2034]],[6000337,"Thinned small intestinal mucosa",[],[25129]],[6000338,"Seminal vesicle hypoplasia",[],[6000190]],[6000339,"Decreased fetal abdominal circumference",["Small fetal abdominal circumference"],[20303]],[6000340,"Prenatal flattened diaphragm",[],[34243]],[6000341,"Snowflake effect in amniotic cavity",["Snowflake sign"],[1560]],[6000342,"Thickened mitral valve cusp",[],[31480]],[6000343,"Antiparietal cell antibody positivity",[],[30057]],[6000344,"Anti-intrinsic factor antibody positivity",[],[30057]],[6000345,"Anti-human immunodeficiency virus antibody positivity",["Anti-HIV antibody positivity"],[430059]],[6000346,"Anti-polio virus antibody positivity",[],[430059]],[6000347,"Anti-NR2A antibody positivity",[],[30057]],[6000348,"Antistreptolysin O antibody positivity",[],[430061]],[6000349,"Reduced tissue tissue AICAR transformylase activity",[],[6000231]],[6000350,"Ameliorated by gastric acid-reducing therapy",[],[34536]],[6000351,"Anti-coagulation factor antibody positivity",[],[30057]],[6000352,"Tachyphagia",[],[100738]],[6000353,"Reduced tissue argininosuccinate synthetase activity",["Reduced argininosuccinate synthetase activity in cultured fibroblasts","Reduced hepatic argininosuccinate synthetase activity"],[6000231]],[6000354,"Reduced aspartoacylase activity in cultured fibroblasts",[],[4000195]],[6000355,"Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts",[],[4000195]],[6000356,"Reduced tissue medium-chain acyl-CoA dehydrogenase activity",["Reduced MCAD activity in cultured fibroblasts","Reduced medium-chain acyl-CoA dehydrogenase activity in cultured fibroblasts"],[6000231]],[6000357,"Reduced cystathionine beta-synthase activity in cultured fibroblasts",[],[4000195]],[6000358,"Reduced muscle glycogen phosphorylase activity",[],[34526]],[6000359,"Reduced muscle 6-phosphofructokinase activity",[],[34526]],[6000360,"Reduced tissue alpha-N-acetylglucosaminidase activity",[],[6000231]],[6000361,"Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts",[],[4000195]],[6000362,"Blunted aldosterone response to aldosterone suppression test",[],[31073]],[6000363,"Flank mass",[],[1438]],[6000364,"Synovial cyst",[],[25850]],[6000365,"Brown pigmentation of the conjunctiva",[],[502]],[6000366,"Gastrocnemius contracture",[],[5750]],[6000367,"Central thinning of the outer nuclear layer of the retina",["Central thinning of the ONL"],[30329]],[6000368,"Sonographic renal salt and pepper pattern",[],[33130]],[6000369,"Ductus venosus agenesis with intrahepatic drainage",[],[34196]],[6000370,"Ductus venosus agenesis with extrahepatic drainage and liver bypass",[],[34196]],[6000371,"Elevated circulating D-glyceric acid concentration",[],[4354]],[6000372,"Elevated CSF D-glyceric acid concentration",["D-glyceric acid high in CSF"],[500183]],[6000373,"Ameliorated by riboflavin",[],[25254]],[6000374,"Increased circulating interleukin 1beta concentration",[],[11117]],[6000375,"Reduced neutrophil myeloperoxidase activity",[],[34858]],[6000376,"Jugular foramen stenosis",[],[2693]],[6000377,"Intramural intestinal gas",["Pneumatosis intestinalis"],[2242]],[6000378,"Delayed scintigraphic gallbladder filling",[],[12438]],[6000379,"Pancreatic arteriovenous malformation",[],[12090]],[6000380,"Anti-perilipin-1 antibody positivity",[],[30057]],[6000381,"Splenic calcification",[],[25408]],[6000382,"Short esophagus",[],[2031]],[6000383,"Gastric perforation",["Gastric rupture"],[2577]],[6000384,"Gastric volvulus",[],[2577]],[6000385,"Elevated circulating sCD163 concentration",[],[10876]],[6000386,"Positive cold agglutinin test",[],[6000388]],[6000387,"Anti-D-L antibody positivity",["Anti-Donath-Landsteiner antibody positivity"],[30057]],[6000388,"Anti-erythrocyte autoantibody positivity",["Antierythrocyte autoantibody positivity"],[30057]],[6000389,"Non-glucose reducing substance in urine",[],[31979]],[6000390,"Elevated urinary succinylaminoimidazole carboxamide riboside level",[],[33161]],[6000391,"Elevated urine hyaluronic acid level",["Hyaluronic acid high in urine"],[3541]],[6000392,"Elevated urinary methylmalonylcarnitine level",[],[500170]],[6000393,"Elevated urine trihydroxycholestanoic acid level",["Elevated urine THCA level","Elevated urine trihydroxycoprostanic acid level"],[31979]],[6000394,"Elevated CSF ammonia concentration",[],[25454]],[6000395,"Positive CSF VDRL test",[],[430123]],[6000396,"Elevated CSF guanidinoacetic acid concentration",[],[20004]],[6000397,"CSF oligoclonal immunoglobulin G bands",[],[25456]],[6000398,"Decreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentration",[],[25454]],[6000399,"Elevated CSF alpha-crystallin B chain concentration",["Alphabeta-crystallin high in CSF"],[25456]],[6000400,"Reduced CSF creatine concentration",[],[25454]],[6000401,"Decreased circulating vitamin K-dependent protein Z concentration",["Decreased vitamin K-dependent protein Z concentration","Decreased vitamin K-dependent protein Z level","Decreased vitamin K-dependent protein Z level in blood","Reduced vitamin K-dependent protein Z concentration","Reduced vitamin K-dependent protein Z level","Reduced vitamin K-dependent protein Z level in blood"],[10876]],[6000402,"Elevated circulating 27-hydroxycholesterol concentration",[],[3107]],[6000403,"Elevated circulating lysophosphatidylcholine concentration",[],[40300]],[6000404,"Reduced circulating insulin-like growth factor 2 concentration",[],[3117]],[6000405,"Decreased circulating nicotinamide adenine dinucleotide concentration",["Decreased circulating NAD+ concentration"],[4352]],[6000406,"Diminished circulating reduced nicotinamide adenine dinucleotide concentration",["Diminished circulating reduced NADH concentration"],[4352]],[6000407,"Elevated circulating fibroblast growth factor 23 concentration",["Elevated FGF23"],[6000489]],[6000408,"Reduced CSF asparagine concentration",[],[500205]],[6000409,"Pancreatic mass",[],[12090]],[6000410,"Small intestine mass",[],[2244]],[6000411,"Facial nerve compression",["Compression of seventh cranial nerve"],[1293]],[6000412,"Pulmonary perfusion defect",[],[30875]],[6000413,"Ectopic ureteral orifice",[],[25633]],[6000414,"Duplicate uterine cervix",["Cervical duplication"],[12888]],[6000415,"Intradural spinal lipoma",[],[6000590]],[6000416,"T2 hyperintense cerebellar lesion",["T2 hyperintensities in cerebellum"],[1317]],[6000417,"Inferior vena cava obstruction",[],[25576]],[6000418,"Rheumatoid nodule",[],[1482]],[6000419,"Elevated circulating proinsulin concentration",["Elevated plasma proinsulin"],[3117]],[6000420,"Burning eye sensation",[],[200026]],[6000421,"Collarettes",[],[492]],[6000422,"Tympanic membrane bulla",["Bullous myringitis","Tympanic membrane blister"],[40090]],[6000423,"Beard and mustache distribution",[],[12838]],[6000424,"Kerion",[],[11355]],[6000425,"Truncal location",[],[12838]],[6000426,"Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts",[],[4000195]],[6000427,"Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts",["Reduced alkyl-DHAP synthase activity in cultured fibroblasts"],[4000195]],[6000428,"Glomerular fibronectin deposits",[],[30949]],[6000429,"Renal tubular karyomegaly",[],[91]],[6000430,"Reduced tissue acetyl-CoA carboxylase activity",["Reduced hepatic acetyl-CoA carboxylase activity"],[6000231]],[6000431,"Elevated urinary glycolic acid level",[],[33303]],[6000432,"Elevated urine propionic acid level",[],[33303]],[6000433,"Elevated urinary butyric acid level",[],[40156]],[6000434,"Elevated urinary isovaleric acid level",[],[1992]],[6000435,"Elevated circulating alpha-ketoglutarate concentration",["Alpha-ketoglutarate high in blood"],[4354]],[6000436,"Elevated circulating ghrelin concentration",[],[3117]],[6000437,"Decreased circulating stearoylcarnitine concentration",["Decreased circulating O-stearoylcarnitine concentration","Decreased stearoylcarnitine concentration","Decreased stearoylcarnitine level","Decreased stearoylcarnitine level in blood","Reduced stearoylcarnitine concentration","Reduced stearoylcarnitine level","Reduced stearoylcarnitine level in blood"],[33445]],[6000438,"Reduced urinary iodine level",[],[25640]],[6000439,"Increased circulating interleukin 15 concentration",["IL-15 high in blood"],[11117]],[6000440,"Reduced circulating squalene concentration",[],[430071]],[6000441,"Abnormal circulating interleukin 6 concentration",[],[11117]],[6000442,"Abnormal circulating interleukin 12 concentration",[],[11117]],[6000443,"Elevated blood mercury concentration",[],[410172]],[6000444,"Elevated blood cadmiun concentration",[],[410172]],[6000445,"Elevated thallium concentration",[],[410172]],[6000446,"Abnormal circulating CC chemokine concentration",[],[11115]],[6000447,"Decreased CSF asialotransferrin to transferrin ratio",[],[25456]],[6000448,"Anti-desmocollin antibody positivity",[],[30057]],[6000449,"Occupational exposure to raw nonsynthetic textiles",[],[35010]],[6000450,"Rokitansky-Aschoff gallbladder sinuses",["Adenomyomatosis of the gallbladder","Epithelial invaginations of the gallbladder forming cystic pockets"],[12437]],[6000451,"Porcelain gallbladder",["Calcified gallbladder","Calcifying cholecystitis","Cholecystopathia chronica calcarea"],[12437]],[6000452,"Gallbladder adhesions",[],[12437]],[6000453,"Bilioduodenal fistula",["Bouveret syndrome"],[6001043]],[6000454,"Pneumobilia",["Aerobilia","Air in the biliary system"],[12440]],[6000455,"Ectopic gallstone",["Gallstone outside of the gallbladder"],[1081]],[6000456,"Sleep drunkeness",["Confusional arousal","Slow speech or confused thinking upon waking","Excessive sleep inertia"],[25184]],[6000457,"Mallory bodies",["Mallory-Denk bodies"],[34713]],[6000458,"Sulfur-containing abscess",[],[25615]],[6000459,"Retracted tympanic membrane",[],[40090]],[6000460,"Ectopic testis",[],[35]],[6000461,"Cerebral subcortical cyst",[],[10993]],[6000462,"Anti-ADAMTS13 antibody positivity",[],[30057]],[6000463,"Habitual mouth breathing",[],[2793]],[6000464,"Squared off shoulders",[],[3043]],[6000465,"Elevated urine mesaconic acid level",[],[3215]],[6000466,"Elevated urine 3-methyladipic acid level",[],[3215]],[6000467,"Elevated urine D-lactate level",[],[12072]],[6000468,"Elevated CSF alpha-ketoglutarate concentration",[],[500183]],[6000469,"Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level",["2-methyl-2,3-dihydroxybutyrate high in urine","Elevated urine 2-methyl-2,3-dihydroxybutyrate level"],[33303]],[6000470,"Fetal oral mass",[],[34207]],[6000471,"Dilated ejaculatory duct",["Ejaculatory duct dilated"],[22]],[6000472,"Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells",[],[32243]],[6000473,"Decreased FOXP3-expressing T cell count",[],[2843]],[6000474,"Elevated circulating complement component concentration",[],[5339]],[6000475,"Anti-beta fodrin antibody positivity",[],[30057]],[6000476,"Elevated circulating tetradecenoylcarnitine concentration",[],[33465]],[6000477,"Elevated urine 2-trans,4-cis-decadienoylcarnitine level",[],[500170]],[6000478,"Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration",[],[35017]],[6000479,"Elevated urine N-acetyltyrosine level",[],[33090]],[6000480,"Elevated urine manganese level",[],[25640]],[6000481,"Reduced urinary manganese level",[],[25640]],[6000482,"Decreased circulating catecholamine concentration",[],[12099]],[6000483,"Empty sella turcica",["Arachnoidocele"],[2679]],[6000484,"Elevated brain guanidinoacetate level by MRS",[],[12705]],[6000485,"Elevated circulating beta-hCG concentration",["Elevated choriogonadotropin subunit beta concentration","Elevated choriogonadotropin subunit beta level","Elevated choriogonadotropin subunit beta level in blood","Elevated circulating choriogonadotropin subunit beta concentration","Increased choriogonadotropin subunit beta concentration","Increased choriogonadotropin subunit beta level","Increased choriogonadotropin subunit beta level in blood"],[10876]],[6000486,"Elevated circulating CXCL10 concentration",[],[11115]],[6000487,"Reduced circulating interleukin 12 concentration",[],[6000442]],[6000488,"Reduced circulating fibroblast growth factor 23 concentration",["Fibroblast growth factor 23 hormone low in blood","Reduced FGF23"],[6000489]],[6000489,"Abnormal circulating fibroblast growth factor 23 concentration",["Abnormal FGF23 concentration"],[3117]],[6000490,"Impaired heel-walking ability",[],[1288]],[6000491,"Anti-prothrombin antibody positivity",["Anti-FII antibody positivity"],[6000351]],[6000492,"Anti-factor V antibody positivity",["Anti-FV antibody positivity"],[6000351]],[6000493,"Anti-factor VII antibody positivity",["Anti-FVII antibody positivity"],[6000351]],[6000494,"Anti-factor VIII antibody positivity",["Anti-FVIII antibody positivity"],[6000351]],[6000495,"Anti-factor IX antibody positivity",["Anti-FIX antibody positivity"],[6000351]],[6000496,"Anti-factor X antibody positivity",["Anti-FX antibody positivity"],[6000351]],[6000497,"Anti-factor XI antibody positivity",["Anti-FXI antibody positivity"],[6000351]],[6000498,"Anti-factor XIII antibody positivity",["Anti-FXIII antibody positivity"],[6000351]],[6000499,"Anti-factor H antibody positivity",["Anti-FH antibody positivity"],[6000351]],[6000500,"Extremities cold to touch",["Peripheral vasoconstriction"],[25142]],[6000501,"Ruffled acrosome",[],[12865]],[6000502,"Elevated circulating calprotectin concentration",[],[10876]],[6000503,"4-5 toe cutaneous syndactyly",[],[4692,10621]],[6000504,"Poly-hill sign",[],[1446]],[6000505,"3-5 finger cutaneous syndactyly",["Soft tissue syndactyly of fingers 3-5","Webbed 3th, 4th, and 5th finger","Webbed third, fourth, and fifth finger"],[10710]],[6000506,"Radioulnar subluxation",[],[3059]],[6000507,"Non-pitting edema",[],[969]],[6000508,"Anti-human ferritin peptide antibody positivity",[],[30057]],[6000509,"Elevated CSF L-2-hydroxyglutaric acid concentration",[],[500183]],[6000510,"Elevated erythrocyte inosine triphosphate concentration",[],[34737]],[6000511,"Reduced erythrocyte inosine triphosphatase activity",[],[30272]],[6000512,"Reduced circulating alpha-1,3-fucosyltransferase activity",[],[12379]],[6000513,"Diminished neutrophil myeloperoxidase activity",[],[11992]],[6000514,"Reduced erythrocyte uroporphyrinogen III cosynthase activity",[],[30272]],[6000515,"Elevated 18-hydroxycorticosterone to aldosterone ratio",[],[12112]],[6000516,"Elevated circulating 21-deoxycortisol concentration",[],[3118]],[6000517,"Elevated monolysocardiolipin/cardiolipin ratio",[],[40176]],[6000518,"Low maternal vitamin B12 concentration",[],[11436]],[6000519,"Elevated circulating inhibin A concentration",[],[31099]],[6000520,"Increased circulating inhibin B concentration",["Inhibin B high in blood"],[430147]],[6000521,"Elevated circulating lipoprotein(a) concentration",[],[430148]],[6000522,"Reduced circulating lipoprotein(a) concentration",[],[430148]],[6000524,"Abnormal urinary bile acid level",[],[31980]],[6000525,"Reduced erythrocyte glutathione reductase activity",[],[30272]],[6000526,"Failure to elevate lactate upon ischemic exercise test",[],[11014]],[6000527,"Elevated circulating cholestanol concentration",[],[3107]],[6000528,"Livestock exposure",[],[4000110]],[6000529,"Synchronous skin lesions",[],[12836]],[6000530,"Serpentine skin location",[],[12830]],[6000531,"Abnormal urinary organic compound level",[],[33354]],[6000532,"Elevated urinary histamine level",[],[6000531]],[6000533,"Elevated urinary N-methylhistamine level",[],[6000531]],[6000534,"Elevated urinary ureidopropionic acid level",["Ureidopropionic acid high in urine"],[33303]],[6000535,"Elevated urinary porphyrin level",[],[6000531]],[6000536,"Elevated urinary coproporphyrin level",[],[6000535]],[6000537,"Eccrine sweat gland predominance",[],[12836]],[6000538,"Poorly demarcated skin lesion",[],[12836]],[6000539,"History of recent cat bite",["History of recent cat scratch"],[20138]],[6000540,"History of recent stay in area with inadequate sewage sanitation",[],[4000144]],[6000541,"Positive cutaneous herpes simplex virus nucleic acid test",[],[430117]],[6000542,"Positive CSF mycobacterium tuberculosis nucleic acid test",[],[430140]],[6000544,"Positive mycobacterium CSF microscopy",[],[430123]],[6000545,"Positive treponema pallidum PCR test in the blood circulation",[],[430067]],[6000546,"Positive human Immunodeficiency virus nucleic acid test in the blood circulation",[],[430067]],[6000547,"Positive CSF enterovirus nucleic acid test",[],[430140]],[6000548,"Positive CSF Borrelia burgdorferi nucleic acid test",[],[430140]],[6000549,"Positive CSF arbovirus nucleic acid test",[],[430140]],[6000550,"Positive Bartonella henselae nucleic acid test in the blood circulation",[],[430067]],[6000551,"Positive Dengue virus PCR test in the blood circulation",[],[430067]],[6000552,"Positive CSF JC-virus nucleic acid test",[],[430140]],[6000553,"Bloodstream Malaria parasite",[],[34523]],[6000554,"Positive bloodstream plasmodium falciparum nucleic acid pathogen test",[],[430067]],[6000555,"Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity",[],[30272]],[6000556,"Reduced circulating dopamine beta-hydroxylase activity",[],[12379]],[6000557,"Reduced erythrocyte bisphosphoglycerate mutase activity",[],[30272]],[6000558,"Reduced erythrocyte adenylate kinase activity",[],[30272]],[6000559,"Reduced erythrocyte hexokinase activity",[],[30272]],[6000560,"Decreased circulating carboxypeptidase N activity",[],[12379]],[6000561,"Elevated red cell pyruvate kinase activity",[],[30272]],[6000562,"Reduced circulating adenosine deaminase-2 activity",["Reduced circulating ADA2 activity"],[12379]],[6000563,"Reduced sepiapterin reductase activity in cultured fibroblasts",[],[4000195]],[6000564,"Elevated circulating vasoactive intestinal peptide concentration",[],[3117]],[6000565,"Elevated circulating cholesterol sulfate concentration",[],[3107]],[6000566,"Elevated circulating lipoprotein-X concentration",[],[10980]],[6000567,"Elevated circulating oxalate concentration",[],[40145]],[6000568,"Elevated blood ethylene glycol concentration",[],[410172]],[6000569,"Midline notching of lower lip",[],[178]],[6000570,"Reduced tissue thymidine phosphorylase activity",["Reduced leukocyte thymidine phosphorylase activity"],[6000231]],[6000571,"Reduced tissue tripeptidyl peptidase 1 activity",["Reduced leukocyte tripeptidyl peptidase 1 activity","Reduced tripeptidyl peptidase 1 activity in cultured fibroblasts"],[6000231]],[6000572,"Reduced tissue arginine:glycine amidinotransferase activity",[],[6000231]],[6000573,"Reduced tissue aspartylglucosaminidase activity",[],[6000231]],[6000574,"Reduced tissue carnitine-acylcarnitine translocase activity",[],[6000231]],[6000575,"Reduced circulating 6-pyruvoyltetrahydropterin synthase activity",[],[12379]],[6000576,"Reduced tissue mannosyl-oligosaccharide glucosidase activity",[],[6000231]],[6000577,"Reduced tissue 3-methylglutaconyl-CoA hydratase activity",[],[6000231]],[6000578,"Reduced tissue gamma-glutamyltransferase activity",["Reduced tissue gamma-glutamyl transpeptidase activity"],[6000231]],[6000579,"Positive oropharangeal infectious agent test",[],[430030]],[6000580,"Positive oropharynx poliovirus nucleic acid test",[],[6000579]],[6000581,"Positive synonvial fluid infectious agent test",[],[430030]],[6000582,"Positive synonvial fluid culture",[],[6000581]],[6000583,"Positive synovial fluid gram stain",[],[6000581]],[6000584,"Anti Parvovirus antibody positivity",[],[430059]],[6000585,"Brain parenchymal tuberculoma",[],[12443]],[6000586,"Muscle arteriovenous malformation",["Arteriovenous malformation in muscle","Muscle AVM"],[100026]],[6000587,"Bone arteriovenous malformation",["Bone vascular malformation"],[100026]],[6000588,"Periosteal elevation",[],[30313]],[6000589,"Esophageal dilation",[],[2031]],[6000590,"Spinal lipoma",[],[10302,12032]],[6000591,"Loose body in joint",[],[1367]],[6000592,"Paraspinal arteriovenous malformation",[],[100026]],[6000593,"Supernumerary tarsal bone",["Accessory tarsal bone"],[1850]],[6000594,"Maxillary cyst",[],[326]],[6000595,"Mandibular cyst",[],[277]],[6000596,"Sixth cranial nerve hypoplasia",[],[11348]],[6000597,"Third cranial nerve hypoplasia",[],[25735]],[6000598,"Elevated urinary succinylacetone level",[],[33354]],[6000599,"Elevated urinary 2-oxoisocaproic level",[],[33097]],[6000600,"Elevated urinary 2-oxovaleric acid level",["Elevated urinary alpha-ketovalerate level"],[33456]],[6000601,"Elevated urinary 2-hydroxyisocaproic acid level",[],[33097]],[6000602,"Elevated urinary isovalerylglycine level",[],[12073]],[6000603,"Elevated urinary 2-methyl-3-hydroxybutyric acid level",[],[33097]],[6000604,"Elevated urinary 3-hydroxypentanoic acid level",[],[33303]],[6000605,"Elevated urinary 7-hydroxyoctanoic acid level",[],[33303]],[6000606,"Elevated urinary D-glyceric acid level",[],[31980]],[6000607,"Elevated urinary 3-hydroxyisobutyric acid level",[],[31980]],[6000608,"Elevated urinary 3,4-Dihydroxybutyric acid level",[],[10996]],[6000609,"Elevated urinary 3-hydroxyadipic acid level",["Elevated urinary 3-hydroxyadipate level"],[3215]],[6000610,"Elevated erythrocyte galactose-1-phosphate concentration",[],[34737]],[6000611,"Elevated circulating chitotriosidase activity",[],[12379]],[6000612,"Squamosal suture synostosis",[],[1363]],[6000613,"Enlarged fetal lungs",[],[34243]],[6000614,"Orbital inflammation",[],[315]],[6000615,"Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts",[],[4000195]],[6000616,"Reduced muscle glycogen debrancher enzyme activity",[],[34526]],[6000617,"Reduced tissue UDP-glucuronyl-transferase activity",["Reduced liver uridine diphosphate glucuronosyltransferase activity","Reduced tissue uridine diphosphate glucuronosyltransferase activity"],[6000231]],[6000618,"Temporal artery giant cells",[],[430104]],[6000619,"Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts",[],[4000195]],[6000620,"Elevated urinary pyrroline hydroxycarboxylic acid level",["Elevated urinary 3-hydroxy-L-1-pyrroline-5-carboxylate level","Elevated urine L-delta1-pyrroline 3-hydroxy-5-carboxylate level"],[40156]],[6000621,"Elevated urinary N-tau-ribosylhistidine level",["Elevated urinary N-ribosylhistidine level"],[33097]],[6000622,"Elevated urinary ureidoisobutyric acid level",[],[33303]],[6000623,"Elevated urinary N-carbamyl-beta-aminoisobutyric acid level",[],[33303]],[6000624,"Nipple epidermal Paget cells",[],[4404]],[6000625,"Penile corporal blood gas ischemia",[],[36]],[6000626,"Recent temporal region trauma",[],[4000144]],[6000627,"Rest limb pain",["Critical limb ischemia"],[25323]],[6000628,"Scalloped appearance of liver surface",["Scalloping of surface of liver and spleen","Scalloping of the surface of the liver and spleen"],[410042]],[6000629,"Nipple thickening",[],[4404]],[6000630,"Hypoechoic breast mass",["Hypoechoic breast nodule"],[32408]],[6000631,"Unilocular ovarian cyst",[],[138]],[6000632,"Mesenteric torsion",[],[100016]],[6000633,"High-pitched bowel sounds",[],[30142]],[6000634,"Exacerbated by opiate medication",[],[4000176]],[6000635,"Breast granuloma",["Granulomatous mastitis"],[5210340]],[6000636,"Exposure to cosmetic fragrances",[],[4000110]],[6000637,"Sweating and flushing in the preauricular area in response to mastication",["Frey syndrome"],[31911]],[6000638,"Reduced hepatic glyoxylate reductase activity",["Reduced hepatic hydroxypyruvate reductase activity"],[34685]],[6000639,"PAS-positive lymphocyte vacuolization",[],[1922]],[6000640,"Lipid-laden bone-marrow macrophages",[],[5561]],[6000641,"Bone marrow monocytosis",["Bone marrow monocytes increased"],[5561]],[6000642,"Sunflower cataract",[],[10923]],[6000643,"Anti-lamin A antibody positivity",["LMNA antibody positivity","PCNA antibody positivity","Prelamin A antibody positivity","ki-67 antibody positivity"],[30057]],[6000644,"Anti-lamin C antibody positivity",["Prelamin C antibody positivity"],[30057]],[6000645,"Anti-vinculin antibody positivity",[],[30057]],[6000646,"Anti-annexin A5 antibody positivity",[],[30057]],[6000647,"Bulging fontanelle",["Tense fontanelle"],[11328]],[6000648,"3-4 toe cutaneous syndactyly",[],[10621]],[6000649,"Triangular nail",["Triangular shaped nail"],[25755]],[6000650,"Distal tibiofibular synostosis",["Distal tibial and fibular fusion"],[5928,5929]],[6000651,"Abnormal metacarpal ossification",["Abnormal maturation of long bone of hand","Abnormal ossification involving metacarpal bones"],[5916,10660]],[6000652,"Rib spur",[],[772]],[6000653,"Crescent-shaped iliac bone",["Crescent-shaped iliac wing","Paraglider shape iliac bone"],[2867]],[6000654,"Abnormal ischium ossification",["Abnormal ossification of the ischium"],[3174]],[6000655,"Femoral neck fracture",["Broken femoral neck","Fractured neck of femur"],[31846]],[6000656,"Papillary dermis eosinophilic hyaline material",[],[34924]],[6000657,"Pancreatic intraductal papillary mucinous neoplasm",[],[2894]],[6000658,"Medium vessel vasculitis",["Medium-size-vessel vasculitis"],[34784]],[6000659,"Elevated muscle fiber laminin alpha 5 expression",[],[30089]],[6000660,"Paravertebral mass",[],[925]],[6000661,"Phlebolith",[],[1977]],[6000662,"Bladder rupture",[],[25487]],[6000663,"Elevated myocardial iron load",["Cardiac iron overload","MRI: heart iron content increased"],[1637]],[6000664,"Right ventricular regional wall motion abnormality",[],[33118]],[6000665,"Right ventricular regional akinesia",[],[33118]],[6000666,"Right ventricular regional dyskinesia",[],[33118]],[6000667,"Right ventricular aneurysm",["Right ventricular outpouching"],[1707]],[6000668,"Glomerular immune-complex deposition",[],[95]],[6000669,"Glomerular PLA2R immune-complex deposition",[],[95]],[6000670,"Elevated urinary L-glycerate level",[],[33303]],[6000671,"Breast myxoma",[],[100013]],[6000672,"Ovarian cystadenoma",[],[100615]],[6000673,"Abnormal CSF N-acetylaspartic acid concentration",["Elevated urine 2-betanone level"],[25454]],[6000674,"Decreased CSF N-acetylaspartic acid concentration",["Decreased CSF N-acetylaspartate acid concentration","N-acetylaspartate absent in CSF"],[25454]],[6000675,"Elevated urinary mevalonate lactone level",[],[33354]],[6000676,"Anti-von Willebrand factor antibody positivity",[],[30057]],[6000677,"Increased total natural killer cell count",["Elevated natural killer cell count"],[40089]],[6000678,"Myositis-specific autoantibody positivity",[],[30057]],[6000679,"Abnormal serum osmolality",[],[11032]],[6000680,"Low serum osmolality",[],[6000679]],[6000681,"High serum osmolality",[],[6000679]],[6000682,"History of compressive dressings",[],[32443]],[6000683,"Triggered by overhead motions",["Triggered by overhead activity"],[25204]],[6000684,"Radiating pain",[],[25280]],[6000685,"Mitral opening snap",[],[31657]],[6000686,"Mucus in stool",[],[31685]],[6000687,"Elevated circulating CCL3 concentration",[],[6000446]],[6000688,"Elevated circulating CCL4 concentration",[],[6000446]],[6000689,"Elevated CSF 14-3-3 protein concentration",[],[6000205]],[6000690,"Elevated CSF dihydrobiopterin concentration",[],[40207]],[6000691,"Left atrial fibrosis",[],[25579]],[6000692,"Abnormal circulating proANP concentration",[],[10876]],[6000693,"Decreased circulating NT-proANP concentration",["Reduced long-acting natriuretic peptide concentration"],[10876]],[6000694,"Elevated circulating 1-pyrroline-5-carboxylic acid concentration",["Elevated circulating delta-1-pyrroline-5-carboxylate concentration"],[10996]],[6000695,"Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity",[],[6000231]],[6000696,"Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration",[],[10996]],[6000697,"Low tissue ferrochelatase activity",[],[6000231]],[6000698,"Elevated circulating heptacarboxylporphyrin concentration",[],[34606]],[6000699,"Aggravated by menstruation",[],[25285]],[6000700,"Reduced breast milk zinc concentration",[],[32243]],[6000701,"Elevated urinary bile acid level",["Increased urinary bile acid level"],[31980]],[6000702,"Elevated urinary glyoxylic acid level",["Elevated urinary alpha-ketoacetic acid level","Elevated urinary glyoxylate level","Elevated urinary oxoacetic acid level"],[33303]],[6000703,"Elevated circulating 3-hydroxyanthranilic acid concentration",[],[33108]],[6000704,"Elevated circulating CXCL9 concentration",["Elevated circulating monokine induced by gamma-interferon concentration"],[11112]],[6000705,"Thickened fibular cortex",["Broad cortex of fibula","Cortical thickening of the fibula","Thickened cortex of the fibula","Thickened cortices of fibula"],[935,2991]],[6000706,"New medication added in recent weeks",[],[4000144]],[6000707,"Noctural pain",[],[25280]],[6000708,"Femoral osteosclerosis",["Osteosclerosis of the femur"],[2823,11001]],[6000709,"Absent Bell phenomenon",["Absent palpebral-oculogyric reflex"],[12547]],[6000710,"Dalen-Fuchs nodules",["Dalen Fuchs nodules"],[30506]],[6000711,"Triggering by ocular trauma",[],[31135]],[6000712,"Gelatinous drop-like dystrophic cornea",[],[1131]],[6000713,"Hepatic reticuloendothelial system cell iron deposition",[],[40134]],[6000714,"Reduced epidermal kindlin-1 expression",[],[34573]],[6000715,"Central giant cell lesion of the jaw",[],[30791]],[6000716,"Terminal hepatic lobular vascular occlusion",["Hepatic sinusoidal obstruction syndrome","Hepatic veno-occlusive disease"],[6707]],[6000717,"Axonal spheroids",[],[12757]],[6000718,"Decreased liver bile salt export pump expression",[],[34644]],[6000719,"Reduced tissue type II iodothyronine deiodinase activity",[],[6000231]],[6000720,"Reduced tissue fatty aldehyde dehydrogenase activity",[],[6000231]],[6000721,"Decreased circulating pancreatic isoamylase activity",[],[12379]],[6000722,"Reduced tissue guanidinoacetate methyltransferase activity",[],[6000231]],[6000723,"Reduced erythrocyte galactokinase activity",[],[30272]],[6000724,"Auspitz sign",[],[11122]],[6000725,"Salty tasting skin",[],[11122]],[6000726,"Scalp nodule",["Scalp nodules"],[1965]],[6000727,"History of undercooked pork ingestion",[],[4000123]],[6000728,"History of recent rodent exposure",[],[4000144]],[6000729,"Positive CSF fungus test",[],[430123]],[6000730,"Positive CSF human T-lymphotropic virus type I antibody positivity",["Positive CSF HTLV-1 antibody positivity"],[430139]],[6000731,"Positive chlamydia trachomatis urine nucleic acid test",[],[34889]],[6000732,"Anti-streptococcus deoxyribonuclease-B antibody positivity",[],[430061]],[6000733,"Positive streptococcus A rapid antigen detection test",[],[6000579]],[6000734,"Positive synovial mycobacterial culture",[],[6000582]],[6000735,"Positive mycobacterial synovial nucleic acid test",[],[6000581]],[6000736,"Positive bloodstream babesia nucleic acid pathogen test",[],[430067]],[6000737,"Positive bloodstream influenza nucleic test",[],[430067]],[6000738,"Positive bloodstream parainfluenza virus nucleic acid test",[],[430067]],[6000739,"Positive bloodstream adenovirus nucleic acid test",[],[430067]],[6000740,"Anti-Francisella tularensis antibody positivity",[],[430061]],[6000741,"Positive bloodstream MERS coronavirus nucleic acid test",[],[430067]],[6000742,"Positive nasopharyngeal corynebacterium diphtheriae nucleic acid test",[],[6000579]],[6000743,"Pediculosis capitis",[],[430117]],[6000744,"Premature glabellar skin wrinkling",[],[2056,100678]],[6000745,"Flexural reticulate hyperpigmentation",["Reticular pigmented anomaly of the flexures","Reticulate hyperpigmentation of the flexures"],[7427]],[6000746,"Elevated fractional excretion of urate",["Uric acid wasting"],[11036]],[6000747,"Abnormal urinary creatine level",[],[6000531]],[6000748,"Decreased urinary creatine level",[],[6000531]],[6000749,"Elevated circulating PINP concentration",[],[10876]],[6000750,"Decreased tissue S-adenosylhomocysteine hydrolase activity",[],[6000231]],[6000751,"Decreased urinary dopamine level",[],[45012]],[6000752,"Elevated erythrocyte AICA-ribotide concentration",[],[34737]],[6000753,"Elevated circulating monomethyl sterol concentration",[],[3119]],[6000754,"Elevated circulating dimethyl sterol concentration",[],[3119]],[6000755,"Elevated circulating C-terminal fibroblast growth factor 23 concentration",[],[6000489]],[6000756,"Elevated urinary 5-hydroxyindoleacetic acid level",[],[40156]],[6000757,"Elevated circulating thiosulfate concentration",[],[20330]],[6000758,"Elevated circulating interleukin 1 receptor antagonist concentration",[],[11111]],[6000759,"Positive CSF West Nile virus nucleic acid test",[],[430140]],[6000760,"Positive CSF herpes simplex virus nucleic acid test",[],[430140]],[6000761,"Positive CSF cryptococcal antigen test",[],[430123]],[6000762,"Positive rubella CSF culture",[],[430123]],[6000763,"Positive CSF treponema pallidum nucleic acid test",[],[430140]],[6000764,"Decreased CSF tetrahydrobiopterin level",[],[40207]],[6000765,"Decreased CSF N-acetyl-aspartyl-glutamate concentration",[],[25456]],[6000766,"Positive CSF Tropheryma whipplei bacteria microscopy",[],[430123]],[6000767,"CSF treponemal antibody positivity",["Positive CSF Treponema pallidum hemoagglutination assay","Positive CSF Treponema pallidum particle agglutination test","Positive CSF fluorescent treponemal antibody absorption"],[430139]],[6000768,"Echophenomenon",[],[708]],[6000769,"Paracentral hyper-autofluorecence",[],[30602]],[6000770,"Fixed fetal extremities",[],[34059]],[6000771,"Abnormal peripapillary microvascular network",[],[12795]],[6000772,"Auriculitis",["Auricular inflammation"],[377]],[6000773,"Recent history of moisture in external ear canal",[],[4000144]],[6000774,"History of recent trauma to external ear canal",[],[4000144]],[6000775,"Elevated urinary 4-tyramine level",[],[40416]],[6000776,"Elevated circulating 3-hydroxykynurenine concentration",[],[3312,33109]],[6000777,"Posterior vertebral body notching",[],[3312,25204]],[6000778,"Cone-shaped distal tibial epiphysis",[],[10592,40156]],[6000779,"Osteoporotic femoral neck",["Osteoporosis of femoral neck"],[3367]],[6000780,"Olanzapine exposure",[],[4000112]],[6000781,"Reduced tissue phosphomannomutase activity",[],[6000231]],[6000782,"Reduced tissue phosphomannose isomerase activity",[],[6000231]],[6000783,"Reduced tissue palmitoyl-protein thioesterase activity",[],[6000231]],[6000784,"Maternal household cat exposure",[],[2686]],[6000785,"Protein craving",[],[100738]],[6000786,"Absent superficial temporal artery pulse",[],[32552]],[6000787,"Basilar artery fenestration",["Basilar fenestration"],[11004]],[6000788,"Displacement of the extensor tendon in metacarpophalangeal joint",[],[1167]],[6000789,"Heloma",["Clavus","Corn","Focal intractable plantar hyperkeratosis"],[11355]],[6000790,"Exacerbated by pronation",[],[25285]],[6000791,"Distortion of the anterior part of the interhemispheric fissure",[],[12703]],[6000792,"Positive lacrimal tract actinomyces culture",[],[430151]],[6000793,"Eschar",["Black eschar","Black spot","Tache noire"],[33126]],[6000794,"History of wearing tightly fitted clothing",[],[32443]],[6000795,"Anti-folate receptor antibody positivity",[],[30057]],[6000796,"Positive bloodstream VDRL test",["VDRL positive in blood","VDRL reactive in blood circulation"],[31863]],[6000797,"Positive bloodstream rapid plasma reagin test",[],[31863]],[6000798,"Positive bloodstream HIV p24 antigen test",[],[430109]],[6000799,"Positive Quantiferon tuberculosis test",[],[430109]],[6000800,"Tzanck smear with multinucleated giant cells",[],[430117]],[6000801,"Positive Mazzotti test",[],[430117]],[6000802,"Positive bloodstream Tropheryma whipplei nucleic acid test",[],[430067]],[6000803,"Elevated urinary 2,8-dihydroxyadenine level",[],[33161]],[6000804,"Elevated urine fructose level",[],[31979]],[6000805,"Elevated urinary uroporphyrin level",[],[6000535]],[6000806,"Elevated urinary phosphohydroxylysine level",[],[33098]],[6000807,"Cervical C6/C7 vertebrae fusion",[],[2949]],[6000808,"Periumbilical depression",[],[1551]],[6000809,"Thickened tibial cortex",["Thickened cortex of the tibia"],[935,2992]],[6000810,"Thickened femoral cortex",[],[2823,6000705]],[6000811,"Thickened cortex of the radius",[],[935,2818]],[6000812,"Thickened cortex of the ulna",[],[935,3957]],[6000813,"Elevated circulating aspartate aminotransferase to alanine aminotransferase ratio",[],[430135]],[6000814,"Temporomandibular joint dislocation",["Temporomandibular malocclusion"],[10754]],[6000815,"Amyloid goiter",["Thyroid gland amyloidosis"],[853,20015]],[6000816,"Prominent lesser trochanter",[],[3366]],[6000817,"Melorheostosis",[],[11314]],[6000818,"Transverse terminal limb defect",["Transverse terminal limb reduction"],[40064]],[6000819,"Elevated circulating beta-glucuronidase activity",[],[12379]],[6000820,"Elevated osmolality gap",[],[6000679]],[6000821,"Elevated circulating bile alcohol concentration",[],[430071]],[6000822,"Elevated CSF tetrahydrobiopterin level",[],[40207]],[6000823,"Elevated CSF 5-hydroxyindoleacetic acid concentration",[],[20019]],[6000824,"Cerebrospinal fluid eosinophilia",["Eosinophilia in the CSF"],[12229]],[6000825,"Reduced C27 3beta-HSD activity in cultured fibroblasts",[],[4000195]],[6000826,"Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts",[],[4000195]],[6000827,"Diminished tissue fumarylacetoacetate hydrolase activity",[],[6000231]],[6000828,"Reduced tissue peptidase D activity",["Reduced tissue prolidase activity"],[6000231]],[6000829,"Reduced tissue glycine cleavage enzyme activity",[],[6000231]],[6000830,"Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts",[],[4000195]],[6000831,"Increased circulating dihydroxycholestanoic acid concentration",[],[12202]],[6000832,"Reduced tissue phosphorylase kinase activity",[],[6000231]],[6000833,"Hyperkalemia while symptomatic",["Hyperkalemia during attack"],[11042]],[6000834,"Elevated urinary gamma-glutamylcysteine level",[],[33098]],[6000835,"Positive CSF mycobacterial culture",["Positive CSF mycobacterium culture","Positive mycobacterium CSF culture"],[430123]],[6000836,"Positive respiratory tract nucleic acid pathogen test",[],[430151]],[6000837,"Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test",[],[6000836]],[6000838,"Positive fecal cryptosporidium antigen test",["Positive stool Cryptosporidium antigen test"],[34866]],[6000839,"Horizontal position of testicle",["Bell-clapper deformity"],[35]],[6000840,"Localized soft-tissue swelling on extremity",[],[40064]],[6000841,"Abnormal scleral thickness",[],[591]],[6000842,"Multiple eyelid beaded papules",["Moniliform blepharosis"],[492]],[6000843,"Nonexudative conjunctivitis",[],[509]],[6000844,"Nematode in retina",[],[430030]],[6000845,"Vascular compression of the eighth cranial nerve",["Neurovascular compression syndrome of the vestibulocochlear nerve","Vestibulocochlear nerve compression syndrome"],[9591]],[6000846,"Beaded bile ducts",[],[12440]],[6000847,"Cardiac mass",[],[1627]],[6000848,"Superior olive hypertrophy",[],[7361]],[6000849,"Spinal extradural arachnoid cyst",["SEDAC"],[2143]],[6000850,"Temporal cortex localization",[],[430127]],[6000851,"Basilar meningeal enhancement",[],[10651]],[6000852,"Megacolon",[],[2250]],[6000853,"Thyroid cyst",[],[11772]],[6000854,"Decreased circulating sulfate concentration",[],[20330]],[6000855,"Cold intolerance",["Cold sensitivity"],[4370]],[6000856,"Head and neck distribution",[],[12838]],[6000857,"Symmetric distribution",[],[12836]],[6000858,"Muscle extensor surface location",[],[12838]],[6000859,"Dermal foam cells",[],[34924]],[6000860,"Diminished tissue very long-chain acyl-CoA dehydrogenase activity",[],[6000231]],[6000861,"Diminished tissue glycogen branching enzyme activity",[],[6000231]],[6000862,"Parotid adenoma",[],[100684]],[6000863,"Elevated serum-ascites albumin gradient (SAAG)",["Abnormally high serum-ascites albumin gradient (SAAG)"],[25032]],[6000864,"Transverse smile",[],[30319]],[6000865,"Hyperphalangy of the 4th finger",["Hyperphalangy of fourth finger"],[30367]],[6000866,"Delayed distal femoral epiphyseal ossification",[],[10590]],[6000867,"Delayed tibial epiphyseal ossification",[],[6508]],[6000868,"Toe hyperphalangy",[],[10161]],[6000869,"Sclerotic ilium",["Increased bone density of the ilium","Sclerosis of iliac bone"],[2867]],[6000870,"Metaphyseal chevron deformity",[],[944]],[6000871,"Popcorn calcification",[],[10655]],[6000872,"Aplasia/Hypoplasia of the calvaria",[],[2683,9116]],[6000873,"Bowdler spurs",[],[11314]],[6000874,"Delayed ossification of the clavicle",[],[889]],[6000875,"Wide sacroiliac joint",[],[100781]],[6000876,"Anti-Glutamate Receptor delta2 antibody positivity",[],[30057]],[6000877,"Anti-dachshund family transcription factor 1 antibody positivity",["Anti-neuronal nuclear antibody-type 3 positivity"],[30057]],[6000878,"Anti-potassium channel tetramerization domain containing 16 antibody positivity",["Anti-KCTD16"],[30057]],[6000879,"Anti-regulator of G protein signaling 8 antibody positivity",[],[30057]],[6000880,"Anti-neurochondrin antibody positivity",[],[30057]],[6000881,"Anti-DCC netrin 1 receptor antibody positivity",[],[30057]],[6000882,"Anti-recoverin antibody positivity",["Anti-retinal CAR antigen antibody"],[30057]],[6000883,"Recent history of sedation by propofol infusion",[],[4000144]],[6000884,"Enlarged humeral head",[],[3887]],[6000885,"Enlarged radial head",[],[3995]],[6000886,"Enlarged distal tibial epiphysis",["Large distal tibial epiphysis"],[10592]],[6000887,"Elevated blood bismuth concentration",[],[410172]],[6000888,"Elevated urine bismuth level",[],[31840]],[6000889,"Distal radioulnar joint dislocation",[],[6439]],[6000890,"Proximal radioulnar joint dislocation",[],[6439]],[6000891,"Absent toe phalanx flexion crease",[],[1780]],[6000892,"White matter globoid cells",[],[2500]],[6000893,"Gaucher cells",[],[25461]],[6000894,"Breast adenoma",[],[100013]],[6000895,"Breast apocrine adenoma",["Apocrine adenoma of the breast"],[100013]],[6000896,"Fibrocystic breast lesion",[],[31093]],[6000897,"Pancreatic VIPoma",["Vasoactive intestinal peptide-secreting tumor of the pancreas"],[2894]],[6000898,"Gastric carcinoid tumor",[],[100570]],[6000899,"Positive skin scabies test",[],[430117]],[6000900,"Positive mumps virus PCR test in the blood circulation",[],[430067]],[6000901,"Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay",["Positive T-SPOT-tuberculosis test in the bloodstream"],[430150]],[6000902,"Positive blood Neisseria gonorrhoeae culture",[],[31864]],[6000903,"Anti-mumps antibody positivity",[],[430059]],[6000904,"Positive Vibrio cholerae stool culture",["Positive Vibrio cholerae fecal culture"],[34866]],[6000905,"Positive cutaneous varicella zoster virus nucleic acid test",[],[430117]],[6000906,"Positive bloodstream cryptococcus culture",[],[34749,5210107]],[6000907,"Positive bloodstream Borrelia miyamotoi nucleic acid test",[],[430067]],[6000908,"Positive bloodstream Coxsackievirus nucleic acid pathogen test",[],[430067]],[6000910,"Diminished tissue alpha-L-iduronidase activity",[],[6000231]],[6000911,"Reduced tissue neuraminidase activity",[],[6000231]],[6000912,"Nummular keratitis",[],[491]],[6000913,"Swelling of inguinal region",[],[4298]],[6000914,"Single lesion",[],[12836]],[6000915,"Dysorthography",[],[1328]],[6000916,"Echogenic fetal colon",[],[10943]],[6000917,"Bone marrow edema",[],[969,11842]],[6000918,"Transverse terminal upper limb defect",["Transverse terminal upper limb reduction"],[2817,6000818]],[6000919,"Trousseau sign",["Carpal spasm"],[3394]],[6000920,"Craniocervical junction constriction",["Tight craniocervical junction","Tight craniovertebral junction"],[46508]],[6000921,"Fibular torsion",["Fibular rotation"],[2991]],[6000922,"Abnormal finger phalanx ossification",[],[5918,10660]],[6000923,"Positive bloodstream EBV monospot test",[],[430051]],[6000924,"Positive CSF Toxoplasma gondii antibody positivity",[],[430139]],[6000925,"Positive tuberculin skin test",["Positive Mantoux tuberculosis test","Tuberculosis skin test positive"],[430030]],[6000926,"Anti-Treponema pallidum antibody positivity",["Positive Fluorescent treponemal antibody absorption test","Positive Treponema pallidum hemoagglutination assay","Treponemal antibody titer high in blood"],[430061]],[6000927,"Positive CSF Borrelia burgdorferi antibody positivity",[],[430139]],[6000928,"Positive CSF JC-virus antibody positivity",["Positive CSF JC-polyomavirus antibody positivity"],[430139]],[6000929,"Neutralizing anti-rabies virus antibody positivity",[],[430051]],[6000930,"Impaired hepatobiliary scintigraphy tracer uptake",[],[25155]],[6000931,"Calcified pulmonary nodule",[],[33608]],[6000932,"Postprandial exacerbation",[],[25285]],[6000933,"Koebner Phenomenon",[],[11122]],[6000934,"Glenoid dysplasia",["Glenohumeral dysplasia"],[11912]],[6000935,"Prolonged retraction of penile foreskin",[],[4000144]],[6000936,"Thickened cortex of the clavicle",["Broad cortex of clavicle","Cortical thickening of the clavicle","Thickened cortices of clavicle"],[889]],[6000937,"Thickened cortex of the mandible",["Broad cortex of mandible","Cortical thickening of the mandible","Thickened cortices of mandible"],[277]],[6000938,"Thumb hypoplasia grade 1",[],[9778]],[6000939,"Thumb hypoplasia grade 2",["Hypoplasia of the thumb grade 2"],[9778]],[6000940,"Thumb hypoplasia grade 3A",["Hypoplasia of the thumb grade IIIA"],[9778]],[6000941,"Thumb hypoplasia grade 3B",["Hypoplasia of the thumb grade IIIB"],[9778]],[6000942,"Thumb hypoplasia grade 4",["Floating thumb","Hypoplasia of the thumb grade IV","Pouce flottant"],[9778]],[6000943,"Femoral osteopoikilosis",["Femoral slcerotic foci","Sclerotic foci of the femur"],[2823]],[6000944,"Carotidynia",[],[46506]],[6000945,"Asymmetric blood pressure between arms",[],[25749]],[6000946,"Transverse terminal lower limb defect",[],[6000818]],[6000947,"Hemimelia of lower leg",[],[6000946]],[6000948,"Hemimelia of forearm",[],[6000918]],[6000949,"Sodium glucose transport inhibitor exposure",["SGLT2i exposure"],[4000112]],[6000950,"Breath-holding spell",[],[2793]],[6000951,"Flared proximal tibial metaphysis",[],[30307]],[6000952,"Delayed toe phalanx ossification",[],[10675]],[6000953,"Sorbitol ingestion",[],[4000123]],[6000954,"Positive peritoneal fluid bacterial culture",[],[430030]],[6000955,"Corneal cystine crystals",[],[531]],[6000956,"Exuberant granulation tissue",["Hypergranulating wound","Overgranulation"],[11355]],[6000957,"Oral mucosal papule",[],[3000019]],[6000958,"Excessive piloerection",["Excessive cutis anserina","Excessive goose bumps"],[25276]],[6000959,"Scalp edema",[],[969,1965]],[6000960,"Serpiginous burrow",[],[11355]],[6000961,"Positive brain-tissue rabies nucleic acid test",[],[430030]],[6000962,"Positive respiratory tract Bordetella pertussis nucleic acid test",[],[6000836]],[6000963,"Demonstration of acid-fast bacilli in wound tissue",[],[430030]],[6000964,"Positive tissue encapsulated budding yeast test",[],[430030]],[6000965,"Positive tissue coccidioidomycosis culture",[],[430030]],[6000966,"Diminished tissue dihydropteridine reductase activity",[],[6000231]],[6000967,"Decreased circulating transcobalamin-1 concentration",["Decreased circulating R vitamin B12 binder protein concentration","Decreased circulating cobalophilin concentration","Decreased circulating haptocorrin concentration","Decreased transcobalamin-1 concentration","Decreased transcobalamin-1 level","Decreased transcobalamin-1 level in blood","Reduced transcobalamin-1 concentration","Reduced transcobalamin-1 level","Reduced transcobalamin-1 level in blood"],[10876]],[6000968,"Decreased circulating cationic trypsinogen concentration",["Decreased serine protease 1 concentration","Decreased serine protease 1 level","Decreased serine protease 1 level in blood","Reduced serine protease 1 concentration","Reduced serine protease 1 level","Reduced serine protease 1 level in blood"],[10876]],[6000969,"Diminished circulating hyaluronidase activity",[],[12379]],[6000970,"Diminished sulfotransferase activity in cultured fibroblasts",[],[4000195]],[6000971,"Elevated tissue alpha-N-acetylglucosaminidase activity",[],[6000231]],[6000972,"Abnormal tissue alpha-N-acetylglucosaminidase activity",[],[6000231]],[6000973,"Elevated circulating trihydroxycholestanoic acid concentration",["Elevated circulating THCA concentration"],[11013]],[6000974,"Elevated circulating glyoxylic acid concentration",[],[10996]],[6000975,"Elevated CSF sepiapterin concentration",[],[40207]],[6000976,"Intrahepatic inclusion bodies",[],[410042]],[6000977,"Muscle vacuoles",[],[4303]],[6000978,"Nonrimmed muscle vacuoles",[],[4303]],[6000979,"Reduced hepatic glycogen phosphorylase activity",[],[34685]],[6000980,"Bone marrow hemophagocytosis",[],[12156]],[6000981,"Splenic granulomatosis",[],[2955,25408]],[6000982,"Immediate detumescence of penis at time of symptom onset",[],[10461]],[6000983,"History of aortic valve replacement",[],[34420]],[6000984,"Coved type ST segment elevation",[],[12251]],[6000985,"Saddle-back type ST segment elevation",[],[12251]],[6000986,"Substantially elevated circulating ethanol concentration",[],[410172]],[6000987,"Tortuous appearance of the stomach",[],[2577]],[6000988,"Cochlear nerve aplasia",[],[11396]],[6000989,"Slit-like lateral ventricle",[],[30047]],[6000990,"Fetal methamphetamine exposure",["Antenatal methamphetamine exposure","Antenatal methamphetamine use","Fetal meth exposure","Methamphetamine use during pregnancy","Prenatal methamphetamine exposure","Prenatal methamphetamine use"],[34756]],[6000991,"Elevated circulating 4-hydroxybutyric acid concentration",[],[33417]],[6000992,"Elevated urinary 2,4-dihydroxybutyric acid level",[],[33303]],[6000993,"Pupillary hypersensitivity to parasympathomimetic agents",[],[7686]],[6000994,"Lack of pupillary response to hydroxyamphetamine",[],[7686]],[6000995,"Subcortical U fiber lesion",["Subcortical U fiber involvement"],[10993]],[6000996,"Intraspinal extradural lipoma",[],[6000590]],[6000997,"Intranasal mass",[],[10640]],[6000998,"Liver rupture",[],[410042]],[6000999,"Elevated urinary mandelic acid",[],[33303]],[6001000,"Elevated urine malic acid level",[],[3215]],[6001001,"Elevated urine 3-hydroxysebacic acid level",[],[40156]],[6001002,"Elevated urinary vanillactic acid level",[],[40156]],[6001003,"Elevated urine 4,5-dihydroxyhexanoic acid level",[],[40156]],[6001004,"Elevated urine hydroxyphenyllactic acid level",[],[33098]],[6001005,"Positive gastric CMV intranuclear inclusions",[],[20068,430030]],[6001006,"Elevated urine dihydroxycholestanoic acid level",["Elevated urine DHCA level"],[31979]],[6001007,"Elevated urinary bile alcohol level",[],[6000531]],[6001008,"Elevated urine glucose tetrasaccharide level",[],[10471]],[6001009,"Increased urine 4-hydroxy-2-oxoglutarate level",[],[1992]],[6001010,"Inability to protrude lips",[],[30319]],[6001011,"Wet voice",[],[1608]],[6001012,"Erythema marginatum",[],[10783]],[6001013,"Mechanic's hands",[],[10765]],[6001014,"Hiker's feet",[],[7556]],[6001015,"Anti-HLA-DQ antibody positivity",[],[34018]],[6001016,"Inappropriate normal or low erythropoietin",[],[34442]],[6001017,"Rapid gastric emptying",["Dumping syndrome"],[30896]],[6001018,"Mediastinal lymph node calcification",["Calcified mediastinal lymph nodes"],[2733]],[6001019,"Eggshell calcification of lymph nodes",["Peripheral calcification of lymph nodes"],[2733]],[6001020,"Knee joint effusion",[],[34669]],[6001021,"Subcutaneous emphysema",["Skin emphysema"],[11124]],[6001022,"Elevated bone scintigraphy uptake",["Bone scan (scintigraphy): abnormally increased uptake","Increase bone scan uptake"],[11842]],[6001023,"Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts",[],[4000195]],[6001024,"Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts",["Reduced 3-ketoacyl-CoA thiolase activity in cultured fibroblasts"],[4000195]],[6001025,"Pathological inclusion body",[],[25461]],[6001026,"Reduced epidermal collagen IV alpha 5 chain staining",[],[31512]],[6001027,"Diminished glomerular basement membrane collagen IV alpha 3 chain staining",[],[33282]],[6001028,"Diminished glomerular basement membrane collagen IV alpha 4 chain staining",[],[33282]],[6001029,"Diminished glomerular basement membrane collagen IV alpha 5 chain staining",[],[33282]],[6001031,"Cystine nephrolithiasis",["Yellowish brown character to kidney stone suggestive of cystine"],[787]],[6001032,"Hepatic cystine accumulation",[],[30146]],[6001033,"Bone marrow cystine accumulation",[],[5561]],[6001034,"Desmoid tumor",["Aggressive fibromatosis","Desmoid-type fibromatosis"],[31459]],[6001035,"Tubular jejunal duplication",[],[5265]],[6001036,"Left ventricular rupture",[],[1637,1711]],[6001037,"Punctate pontine perivascular enhancement",[],[7361]],[6001038,"Intestinal worm",[],[430030]],[6001039,"Scrotal worm",["Filaria dance sign"],[430030]],[6001040,"Small intestinal adenoma",[],[100833]],[6001041,"Maternal retinal mottling",[],[2686]],[6001042,"Twisted gallbladder pedicle",["Conical structure at the gallbladder neck"],[12437]],[6001043,"Cholecyst-enteric fistula",[],[12437]],[6001044,"Dyschronometria",[],[10524]],[6001045,"History of recent intermittent breastfeeding",[],[32443]],[6001046,"Breast cyst",[],[31093]],[6001047,"Circumscribed",[],[12836]],[6001048,"Lobulated",[],[12836]],[6001049,"Spiculated",[],[12836]],[6001050,"Whorled",[],[12836]],[6001051,"Delta brush pattern on EEG",[],[2353]],[6001052,"Tibiotalar synostosis",[],[5928,5929,9140]],[6001053,"Vertebra plana",["Pancake vertebra","Silver dollar vertebra"],[2953]],[6001054,"Intoeing",["Pigeon-toed"],[1288]],[6001055,"Palpable thrill on extremity",[],[25323]],[6001056,"Out-toeing",["Duck feet","External rotated feet","Toeing out"],[1288]],[6001057,"Ankle dislocation",[],[30311]],[6001058,"Anti-neuronal intermediate filament antibody positivity",[],[30057]],[6001059,"Anti-DREBRIN antibody positivity",[],[30057]],[6001060,"Anti-lipoprotein lipase autoantibody positivity",["Anti-LPL autoantibody positivity"],[30057]],[6001061,"Anti-apolipoprotein CII autoantibody positivity",["Anti-apoCII autoantibody positivity"],[30057]],[6001062,"Eosinophilic neuronal inclusion bodies",[],[12757]],[6001063,"Sweaty foot-like odor",[],[500001]],[6001064,"Anti-acetylcholine receptor antibody positivity",[],[30057]],[6001065,"Hair shaft lesion",[],[12836]],[6001066,"Prolonged use of tightly fitting footwear",[],[4000110]],[6001067,"Triggered by high protein intake",["Triggered by protein-rich foods"],[25204]],[6001068,"Thickened tricuspid valve cusp",[],[1702]],[6001069,"Displaced anterior fontanelle",["Displacement of the anterior fontanelle"],[236]],[6001070,"Subdural hygroma",[],[10651]],[6001071,"Incus ankylosis",[],[11453]],[6001072,"Excessive diet restriction",[],[4000123]],[6001073,"Left ventricular apical dyskinesis",[],[31482]],[6001074,"Longitudinal erythronychia",[],[1597]],[6001075,"Exacerbated by exposure to sunlight",["Aggravated by ultraviolet radiation exposure"],[4000176]],[6001076,"Exacerbated by heat",["Aggravated by high temperatures"],[25285]],[6001077,"Exacerbated by excessive sweating",[],[25285]],[6001078,"Malignant pleural effusion",["Malignant cells in pleural fluid"],[2103]],[6001079,"Inappropriately low urine osmolality following challenge",[],[33358]],[6001080,"Reduced urine tetrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio",[],[12029]],[6001081,"Elevated urinary 2,4-dihydroxyglutarate level",[],[3215]],[6001082,"Abnormal urine D-xylose test",[],[12719]],[6001083,"Cerebral hemisphere mass lesion",[],[2060]],[6001084,"T2-hyperintense putaminal rim",[],[31982]],[6001085,"Posterior fossa mass lesion",[],[932]],[6001086,"Irregular RR interval",[],[3115]],[6001087,"Irregular P-P interval",[],[3115]],[6001088,"Fungal hair infection",["Fungal infection of hair"],[430030]],[6001089,"Long hairstyle",[],[32443]],[6001090,"Conjunctival subepithelial fibrosis",[],[502]],[6001091,"Conjunctival fornix foreshortening",[],[502]],[6001092,"Strong ultraviolet light exposure",[],[4000110]],[6001093,"Exposure to vaginal douching",[],[4000110]],[6001094,"Exposure to oily lotions or creams",[],[4000110]],[6001095,"Elevated circulating pristanic acid concentration following branched-chain fatty acid ingestion",[],[10964]],[6001096,"Decreased CD4+ T cell ZAP-70 protein expression",["Decreased T-cell ZAP-70 protein expression in CD4-positive T cells"],[2843]],[6001097,"Dorsal flexion contracture of the ankle",["Dorsiflexion contracture of the ankle"],[34677]],[6001098,"Metaphyseal undermodelling",["Metaphyseal modeling defect","Undermodelled metaphyses"],[944]],[6001099,"Iliac vein compression",[],[2624]],[6001100,"Positive serum amyloid P scintigraphy",["Positive SAP scan"],[11034]],[6001101,"Crossed brainstem sign",[],[11442]],[6001102,"Inability to puff cheeks",[],[30319]],[6001103,"Entoptic phenomenon",["Entoptic phenomenona"],[504]],[6001104,"Abnormal vestibulo-spinal reflex",[],[1751]],[6001105,"Positive probe-to-bone test",["Abnormal probe-to-bone test"],[32674]],[6001106,"Exposure to repetitive hand impact",["Use of vibratory tools"],[4000110]],[6001107,"Fractured scaphoid bone",["Scaphoid bone fracture","Scaphoid fracture"],[41248]],[6001108,"Local anesthetic ineffectiveness",[],[1311]],[6001109,"Palmoplantar location",[],[12838]],[6001110,"Oral mucosa plaque",[],[11830]],[6001111,"Positive saliva rabies nucleic acid test",[],[6000579]],[6001112,"Elevated tissue arylsulfatase A activity",[],[6000231]],[6001113,"Elevated circulating methysterol concentration",[],[3119]],[6001114,"Elevated urinary adipic acid",[],[3215]],[6001115,"EEG with temporal slowing",["EEG with slow activity in temporal lobes","EEG with slow-wave activity involving the temporal lobes"],[10843]],[6001116,"History of high-pressure injection injury of the hand",[],[32443]],[6001117,"Hypertrophic ulnar styloid process",["Ulnar styloid large"],[40071]],[6001118,"History of recent peripheral venous catheter",[],[4000144]],[6001119,"Purulent drainage from skin",[],[11123]],[6001120,"Occupational history of putting fingers in other people's mouths",[],[35010]],[6001121,"Single-finger involvement",["Single finger involvement"],[12836]],[6001122,"Multiple-finger involvement",["Multiple finger involvement"],[12836]],[6001123,"Pain disproportionate to abnormality on physical exam",[],[25280]],[6001124,"Sphenoid wing dysplasia",[],[11821]],[6001125,"Skin laceration",[],[11355]],[6001126,"Metacarpal fracture",["Fractured metacarpal bone"],[4277]],[6001127,"Pain at the base of the thumb",[],[46505]],[6001128,"History of recent participation in athletics",[],[4000144]],[6001129,"Remote trauma history",[],[4000110]],[6001130,"Distal radioulnar joint arthritis",["Arthritis of the distal radioulnar joint","DRUJ arthritis"],[3059]],[6001131,"Radial head fracture",[],[3978]],[6001132,"Elbow lateral collateral ligament tear",["Lateral ulnar collateral ligament tear","Ligamentous tear on the lateral aspect of the elbow"],[20300]],[6001133,"Elbow medial collateral ligament tear",["Ligamentous tear on the medial aspect of the elbow"],[20300]],[6001134,"Coronoid fracture",[],[3987]],[6001135,"History of spinal cord injury",[],[4000110]],[6001136,"Femoral nerve distribution",[],[25849]],[6001137,"Triceps tendon rupture",[],[100550]],[6001138,"Digoxin exposure",["Digitalis exposure","Lanoxin exposure"],[4000112]],[6001139,"Upper arm pain",["Proximal arm pain"],[12513]],[6001140,"Capitellum fracture",["Capitellar fracture"],[41055]],[6001141,"Anterior shoulder pain",[],[30834]],[6001142,"Pain at the anterior aspect of the elbow",[],[30835]],[6001143,"Posterior fat pad sign of the elbow",[],[20300]],[6001144,"Pain at the anterior aspect of the knee",[],[30839]],[6001145,"Pain at the posterior aspect of the knee",[],[30839]],[6001146,"Biceps tendonitis",["Biceps tendinitis"],[25230]],[6001147,"Increased peripheral nerve cross sectional area",["Peripheral nerve enlargement","Peripheral nerve swelling"],[759]],[6001148,"Pain exacerbated by passive flexion at joint",[],[25280]],[6001149,"Positive hook test at the elbow",["Positive O'Driscoll hook test","Positive distal biceps hook test"],[34430]],[6001150,"Positive Speed's test",[],[25823]],[6001151,"Triangular lunate bone",["Piece of pie sign of lunate bone"],[4248]],[6001152,"Pain exacerbated by wrist deviation",[],[25280]],[6001153,"Pain on the lateral aspect of the foot",["Lateral foot pain"],[25238]],[6001154,"Pain at the medial aspect of the knee",[],[30839]],[6001155,"Pain at the lateral aspect of the knee",[],[30839]],[6001157,"Occupational exposure to frequent kneeling",["History of frequent kneeling"],[35010]],[6001158,"Trochanteric pain",["Lateral hip pain","Pain at the lateral aspect of the hip","Pain on the outside of the hip"],[30838]],[6001159,"Pulsatile mass in extremity",[],[40064]],[6001160,"Abnormal R wave",[],[3115]],[6001161,"Poor R-wave progression",[],[6001160]],[6001162,"Prominent V1-V2 R wave",["High voltage R wave in V1/V2","Prominent R wave in lead V1"],[6001160]],[6001163,"Finger mass",["Bump on finger","Finger growth","Lump on finger"],[1167]],[6001164,"Foot mass",["Bump on foot","Foot growth","Lump on foot"],[1760]],[6001165,"Abnormal retinal vein morphology",[],[8046]],[6001166,"Spongiosis",[],[11124]],[6001167,"Discoid adrenal gland",["Elongated adrenal gland","Lying down adrenal gland","Lying down adrenal sign","Pancake adrenal gland","Straight adrenal gland"],[11732]],[6001168,"Abnormal optic disc vasculature morphology",[],[12795]],[6001169,"Supraclavicular nerve distribution",[],[25849]],[6001170,"Limited shoulder internal rotation",["Shoulder internal rotation limited"],[6467]],[6001171,"Superior displacement of the humeral head",["Decreased acromiohumeral distance","High-riding shoulder","Proximal subluxation of the humeral head"],[3887]],[6001172,"Increased compartment pressure",[],[11804]],[6001173,"Pain at the lateral aspect of the elbow",["Lateral elbow pain","Radial elbow pain"],[30835]],[6001174,"Pain at the posterior aspect of the elbow",[],[30835]],[6001175,"Pain at the medial aspect of the elbow",[],[30835]],[6001176,"Radial nerve distribution",[],[25849]],[6001177,"Omovertebral bone",["Os omovertebrale"],[782]],[6001178,"Clavicular edema",["Clavicular swelling","Edema localized around the clavicle"],[969]],[6001179,"Positive CSF anti-measles antibody test",["Elevated measles antibody titer in cerebrospinal fluid"],[430123]],[6001180,"Vogt striae",["Corneal striae","Vertical stromal lines","Vogt's striae"],[11492]],[6001181,"Choroid thickening",["Increased choroidal thickness","Pachychoroid","Thickened choroid"],[610]],[6001182,"Corneal epithelial edema",["Bullous keratopathy","Epithelial corneal edema","Epithelial corneal swelling"],[11495]],[6001183,"Retinal shunt vessels",["Retinal collateral vessels"],[8046]],[6001184,"Filamentary keratitis",[],[11495]],[6001185,"Elevated circulating glucosylsphingosine concentration",[],[11013]],[6001186,"Optic disc hemorrhage",["Optic disc bleeding"],[12795]],[6001187,"Decreased circulating progranulin concentration",["Decreased progranulin concentration","Decreased progranulin level","Decreased progranulin level in blood","Reduced progranulin concentration","Reduced progranulin level","Reduced progranulin level in blood"],[10876]],[6001188,"Preauricular lymphadenopathy",[],[2716]],[6001189,"Onychoheterotopia",["Ectopic fingernail"],[1597]],[6001190,"Abnormal MHC surface expression",[],[10978]],[6001191,"Forward displacement of posterior cervical dura mater on neck flexion",[],[410263]],[6001192,"Corneal dellen",["Corneal stromal dellen","Localized corneal thinning"],[100689]],[6001193,"Conjunctival xerosis",["Conjunctival dryness","Dry conjunctiva"],[502]],[6001194,"Limited shoulder external rotation",["Shoulder external rotation limited"],[6467]],[6001195,"Occupational exposure to frequent hand trauma",[],[35010]],[6001196,"Inability to fully extend finger at metacarpophalangeal joint",["Inability to fully extend finger at MCP joint","Inability to fully extend finger from base"],[6135]],[6001197,"Wrist arthritis",[],[1369]],[6001198,"Scapholunate interval widening",["Terry-Thomas sign"],[1191]],[6001199,"FInger pulp localization",["Symptoms localized to pulp of the finger"],[12838]],[6001200,"Ulnar wrist pain",[],[30836]],[6001201,"Lunotriquetral interval widening",[],[1191]],[6001202,"Ulnar translocation of the carpus",[],[1191]],[6001203,"Snapping sensation at time of injury",[],[25280]],[6001204,"Pagetoid spread",[],[12836]],[6001205,"Central scarring",[],[12836]],[6001206,"Scapholunate ligament tear",["Scapholunate ligament injury","Scapholunate ligament rupture"],[1191]],[6001207,"Lunotriquetral ligament tear",[],[1191]],[6001208,"Pisotriquetral arthritis",[],[1191]],[6001209,"Volar intercalated segment instability",[],[1191]],[6001210,"Inaccurate finger pulse oximetry oxygen saturation measurement",[],[25323]],[6001211,"Finger pulse oximetry lower than arterial blood gas analysis measurement of oxygen saturation",[],[6001210]],[6001212,"Finger pulse oximetry higher than arterial blood gas analysis measurement of oxygen saturation",[],[6001210]],[6001213,"History of thumb sucking past the age of four years",[],[32443]],[6001214,"Cutaneous granulomatosis",[],[2955]],[6001215,"Ureteric stricture",[],[25633]],[6001216,"Arteriovenous crossing sign",["AV crossing changes","AV nicking","Arteriovenous nicking","Gunn sign"],[8046]],[6001217,"Haab striae",["Haab's striae"],[11490]],[6001218,"Positive Legionella sputum culture",[],[430107]],[6001219,"Positive Streptococcus pneumoniae sputum culture",[],[430107]],[6001220,"Positive Blastomyces dermatitidis sputum fungal stain",["Blastomyces dermatitidis on sputum fungal stain"],[430107]],[6001221,"Posterior shoulder pain",[],[30834]],[6001222,"Superior shoulder pain",[],[30834]],[6001223,"Lateral shoulder pain",[],[30834]],[6001224,"Shoulder instability",[],[33129]],[6001225,"Shoulder labrum tear",["Glenoid labral tear","Labral tear in the shoulder"],[3043]],[6001226,"Positive modified dynamic labral shear test",[],[33129]],[6001227,"Positive O'Brien active compression test",[],[25823]],[6001228,"Positive shoulder apprehension test",[],[25823]],[6001229,"Foamy tear film",["Frothy tear film","Tear bubbles","Tear foam"],[632]],[6001230,"Salzmann corneal nodules",["Salzmann nodular corneal degeneration","Salzmann nodular corneal dystrophy","Salzmann's nodules"],[7705]],[6001231,"Corneal stromal vascularisation",["Corneal stromal neovascularization","Stromal vascularization of the cornea"],[11496]],[6001232,"Corneal iron line",[],[11495]],[6001233,"Conjunctivochalasis",[],[502]],[6001234,"Conjunctival hyperpigmentation",["Conjunctival melanosis","Hyperpigmentation of the conjunctiva","Pigmented conjunctiva"],[502]],[6001235,"Anti-Saccharomyces cerevisiae antibodies",["ASCA"],[430076]],[6001236,"Elevated fraction exhaled nitric oxide",["Fraction exhaled nitric oxide elevated"],[2795]],[6001237,"Iris hyperemia",["Congested iris vessels","Increased iris vascularity","Iris hyperaemia"],[7905]],[6001238,"Elevated circulating reticulated platelet count",[],[11873]],[6001239,"Reduced circulating reticulated platelet count",["Decreased immature platelet fraction"],[11873]],[6001240,"Abnormal circulating reticulated platelet count",[],[11873]],[6001241,"Flexed posturing of finger",[],[34430]],[6001242,"Positive synovial fluid alpha-defensin",[],[6000581]],[6001243,"Physeal fracture",[],[4000042]],[6001244,"Salter I fracture",["Slipped physeal fracture","Type I Salter-Harris fracture"],[6001243]],[6001245,"Salter II fracture",["Type II Salter-Harris fracture"],[6001243]],[6001246,"Salter III fracture",["Type III Salter-Harris fracture"],[6001243]],[6001247,"Salter IV fracture",["Type IV Salter-Harris fracture"],[6001243]],[6001248,"Salter V fracture",["Type V Salter-Harris fracture"],[6001243]],[6001249,"Nail bed laceration",[],[1597]],[6001250,"History of distal radius fracture",[],[32443]],[6001251,"History of triangular fibrocartilage complex tear",["History of TFCC tear"],[32443]],[6001252,"Reduced plantar creases",["Effaced plantar creases"],[100872]],[6001253,"Skin burn",[],[11121]],[6001254,"Elevanted carboxysterol concentration in cultured lymphoblasts",[],[32243]],[6001255,"Superficial CNS hemosiderin deposition",["Superficial siderosis"],[10651]],[6001256,"Cortical superficial CNS hemosiderin deposition",["Cortical superficial siderosis"],[6001255]],[6001257,"Infratentorial superficial CNS hemosiderin deposition",["Infratentorial superfiicial siderosis"],[6001255]],[6001258,"Pulmonary hyperplasia",[],[2088]],[6001259,"Positive protozoan parasite CSF wet mount test",[],[430123]],[6001260,"Gallbladder polyp",[],[12437]],[6001261,"Gallbladder polyposis",[],[12437]],[6001262,"Biceps tendon rupture",["Biceps tendon tear"],[100550]],[6001263,"Medial epicondyle apophysitis",["Little league elbow"],[6001435]],[6001264,"Thumb carpometacarpal subluxation",["Thumb CMC subluxation","Thumb carpometacarpal dislocation"],[1172]],[6001265,"Localized to lower eyelid",["Inferior palpebral location","Lower lid location"],[6001266]],[6001266,"Localized to eyelid",[],[12838]],[6001267,"Halo vision",[],[505]],[6001268,"Hematospermia",["Hemospermia"],[12874]],[6001269,"Choledocholithiasis",[],[35013]],[6001270,"Axillary nerve distribution",[],[25849]],[6001271,"Pelvic ring fracture",[],[41161]],[6001272,"Scapulothoracic dissociation",[],[782]],[6001273,"Pain exacerbated by weight bearing",["Pain on weight bearing"],[25285]],[6001274,"Thumb sign",["Steinberg sign"],[1167]],[6001275,"Tibialis anterior tendon rupture",[],[34673]],[6001276,"Decreased circulating ADAMTS13 activity",[],[12379]],[6001277,"Abnormal methacholine challenge test",[],[30878]],[6001278,"Positive stool glutamate dehydrogenase test",["Detection of C. difficile glutamate dehydrogenase","Positive C. difficile glutamate dehydrogenase test"],[34866]],[6001279,"Retrocorneal membrane",["Membrane behind the cornea","Retrocorneal fibrosis","Retrocorneal fibrous membrane"],[593]],[6001280,"Adrenal hemorrhage",[],[11732]],[6001281,"Optic nerve sheath dilatation",["Dilation of the optic nerve sheath","Enlarged optic nerve sheath","Optic nerve sheath expansion"],[587]],[6001282,"Right ventricular thrombus",[],[1707]],[6001283,"Severe Candida infection",["Disseminated candidiasis","Hepatosplenic candidiasis","Invasive candidiasis"],[20101,5210102]],[6001284,"Phrenic neuropathy",["Phrenic nerve neuropathy"],[32120]],[6001285,"Glomerular basement membrane subendothelial remodeling",[],[33282]],[6001286,"Glomerular endothelium swelling",["Glomerular endothelial swelling"],[95]],[6001287,"Medullary collecting duct ectasia",[],[4742]],[6001289,"Corneal keloid",[],[11495]],[6001290,"Podocytic mitochondrial proliferation",["Abnormal mitochondrial proliferation in podocytes"],[31265]],[6001291,"Elevated vitamin D metabolite ratio",[],[100511]],[6001292,"Aggravated by vitamin D supplementation",[],[4000176]],[6001293,"Aggravated by sun exposure",[],[25285]],[6001294,"Tubular accumulation of uromodulin",[],[32950]],[6001295,"Elevated stool reducing substances",["Elevated fecal reducing substances","Increased reducing substances in stool"],[31685]],[6001296,"Osteochondral lesion of talus",[],[8365]],[6001297,"Mallet toe",[],[34398]],[6001298,"Bunionette deformity",["Bunionette toe deformity","Tailor's bunion"],[8089]],[6001299,"Elevated CSF beta chorionic gonadotropin concentration",[],[25456]],[6001300,"Pigment epithelium detachment",[],[7703]],[6001301,"Retinal gliosis",[],[546]],[6001302,"Aphakia",[],[517]],[6001303,"Pain on thumb extension",[],[46505]],[6001304,"Fractured lunate bone",["Lunate bone fracture","Lunate fracture"],[41248]],[6001305,"Fractured triquetrum bone",["Triquetrum bone fracture","Triquetrum fracture"],[41248]],[6001306,"Fractured pisiform bone",["Pisiform bone fracture","Pisiform fracture"],[41248]],[6001307,"Fractured trapezium bone",["Trapezium bone fracture","Trapezium fracture"],[41248]],[6001308,"Fractured trapezoid bone",["Trapezoid bone fracture","Trapezoid fracture"],[41248]],[6001309,"Fractured capitate bone",["Capitate bone fracture","Capitate fracture"],[41248]],[6001310,"Fractured hamate bone",["Hamate bone fracture","Hamate fracture"],[41248]],[6001311,"Pulsatile abdominal mass",["Pulsating abdominal mass"],[31500]],[6001312,"Nonpulsatile abdominal mass",[],[31500]],[6001313,"Iatrogenic anophthalmos",[],[12372]],[6001314,"Reduced erythrocyte glutathione peroxidase",["Glutathione peroxidase low in erythrocytes"],[30272]],[6001315,"Elevated circulating malonyl carnitine concentration",["Elevated Blood C3DC level","Elevated C3DC in plasma","Elevated levels of malonylcarnitine in blood acylcarnitine profile","Elevated plasma malonylcarnitine level"],[10966]],[6001316,"Sertoli cell hypoplasia",[],[35]],[6001317,"Positive talar tilt test",[],[34674]],[6001318,"Plantar ecchymosis",[],[31364]],[6001319,"Prolonged exposure to axillary pressure",["Prolonged axillary pressure"],[4000110]],[6001320,"Lateral ankle pain",[],[30840]],[6001321,"Medial ankle pain",[],[30840]],[6001322,"Posterior ankle pain",[],[30840]],[6001323,"Anterior ankle pain",[],[30840]],[6001324,"Exacerbated by colchicine",["Colchicine worsens symptoms"],[4000176]],[6001325,"Retinal periphlebitis",[],[6001165]],[6001326,"Purulent pericardial effusion",[],[1698]],[6001327,"Conjunctival erosion",[],[502]],[6001328,"Positive Mycobacterium tuberculosis sputum culture",["Acid fast bacteria sputum culture"],[430107]],[6001329,"Increased external rotation of shoulder",["Shoulder increased external rotation"],[430047]],[6001330,"Positive trunk flexion test",["Abnormal forward flexion of the trunk manoeuvre","Increased forward flexion of the trunk","Positive palms-to-floor maneuver","Trunk flexion with palms on floor"],[1382]],[6001331,"Tibiotalar arthritis",["Ankle arthritis"],[34673]],[6001332,"Anterior ankle osteophyte",["Tibiotalar spur"],[34673]],[6001333,"Midfoot arthritis",[],[1832]],[6001334,"Decreased circulating reverse T3 concentration",[],[25120]],[6001335,"Stocking-glove distribution",[],[12838]],[6001336,"Hairy kidney sign",["Perinephric infiltration"],[12210]],[6001337,"White appearance of duodenal mucosa",["Gelee blanche appearance of duodenal mucosa","White hoar frosting appearance of duodenal mucosa"],[2246]],[6001338,"Acromioclavicular joint separation",[],[889]],[6001339,"Acromioclavicular joint arthritis",["Osteoarthritis of the acromioclavicular joint"],[889]],[6001340,"Positive shoulder cross-body adduction test",["Positive scarf test"],[33129]],[6001341,"Proximal humeral epiphysiolysis",["Little league shoulder"],[10598]],[6001342,"Positive anterior drawer test",["Anterior drawer test positive"],[34674]],[6001343,"Peroneal tendon tear",[],[34673]],[6001344,"Fifth metatarsal apophysitis",["Iselin disease"],[8089]],[6001345,"Tibial tubercle apophysitis",["Osgood-Schlatter disease"],[2992]],[6001346,"Enteric anendocrinosis",[],[2242]],[6001347,"Metatarsal head osteochondrosis",["Freiberg disease","Freiberg infarction","Metatarsal head osteonecrosis"],[1832]],[6001348,"Hallux sesamoiditis",[],[1844]],[6001349,"Os trigonum",[],[8365]],[6001350,"Positive heel squeeze test",["Positive calcaneal squeeze test"],[34674]],[6001351,"Calcaneal apophysitis",[],[8364]],[6001352,"Decreased circulating guanidinoacetic acid concentration",["Low serum GAA concentration","Reduced circulating guanidinoacetic acid concentration"],[33108]],[6001353,"Elevated circulating C-triol concentration",["Elevated circulating cholestane-3beta,5alpha,6beta-triol concentration"],[3119]],[6001354,"Germinal vesicle oocyte maturation arrest",[],[34914]],[6001355,"Metaphase II oocyte maturation arrest",["Metaphase II oocyte meiotic arrest","Oocyte arrest at metaphase II"],[34914]],[6001356,"Mixed oocyte maturation arrest",[],[34914]],[6001357,"Dorsal forearm pain",[],[6000299]],[6001358,"Volar forearm pain",[],[6000299]],[6001359,"Cholesterol gallbladder polyp",[],[6001260]],[6001360,"Hyperlordotic gait",["Gait with exaggerated lumbar lordosis"],[1288]],[6001361,"Radioulnar interosseous membrane tear",[],[2818]],[6001362,"Fleck sign of elbow",["Dunn-Kusnezov sign","Flake sign of the elbow"],[4032]],[6001363,"Resisted wrist flexion provokes pain",[],[30836]],[6001364,"Lateral epicondylitis of the elbow",[],[20300]],[6001365,"Medial epicondylitis of the elbow",["Golfer's elbow"],[20300]],[6001366,"Popeye sign",[],[34430]],[6001367,"Distal biceps tendon rupture",["Distal biceps tendon tear"],[6001262]],[6001368,"Proximal biceps tendon rupture",["Proximal biceps tendon tear"],[6001262]],[6001369,"Positive bursal fluid infectious agent test",[],[430030]],[6001370,"Acute retinal necrosis",["Acute necrosis of the retina","Retinal necrosis due to infection"],[479,5210265]],[6001371,"Cystic changes in greater tuberosity of the humerus",[],[31095]],[6001372,"Positive Hawkins test",["Positive Hawkins impingement test","Positive Kennedy impingement test"],[25823]],[6001373,"Hallux weakness",[],[3690]],[6001374,"Hallux dorsiflexion weakness",[],[3690]],[6001375,"Hallux plantarflexion weakness",[],[3690]],[6001376,"Forefoot pain",["Metatarsalgia"],[25238]],[6001377,"Spur at inferior pole of patella",[],[3045]],[6001378,"Urinary ascites",[],[1541]],[6001379,"Abnormal mixed venous oxygen saturation",[],[500165]],[6001380,"Elevated circulating lysosphingomyelin concentration",[],[3119]],[6001381,"Abnormal lens capsule morphology",[],[4328]],[6001382,"Posterior capsule opacification",["Secondary cataract"],[4328]],[6001383,"Bronchial stenosis",["Bronchial narrowing"],[25426]],[6001384,"Skin tenting due to fracture",[],[11355]],[6001385,"Follicular conjunctivitis",[],[509]],[6001386,"Granulomatous conjunctivitis",[],[509]],[6001387,"Areas of hypopigmentation and hyperpigmentation that follow Blaschko lines",[],[9123]],[6001388,"Retinal drusen",[],[479]],[6001389,"Intrauterine amputation",["Congenital amputation","Intra-uterine amputation"],[25662]],[6001390,"Intrauterine digital amputation",[],[6001389]],[6001391,"Intrauterine limb amputation",[],[6001389]],[6001392,"Proximal interphalangeal joint arthritis",[],[1369]],[6001393,"Dorsal intercalated segment instability",[],[25799]],[6001394,"Disruption of carpal arcs",["Disruption of Gilula carpal arcs"],[25798]],[6001395,"Spilled teacup sign of the wrist",[],[4248]],[6001396,"Positive Finkelstein sign",[],[25799]],[6001397,"Forefoot abduction",[],[1760]],[6001398,"Posterior tibial tendon injury",[],[1760]],[6001399,"Plantar pain",[],[25238]],[6001400,"Flexor hallucis longus tendon injury",[],[1844]],[6001401,"Hallux pain",["Big toe pain","First toe pain","Great toe pain","Pain in hallux"],[30841]],[6001402,"Pain on the medial aspect of the foot",[],[25238]],[6001403,"Hallux sesamoid injury",[],[1844]],[6001404,"Radial wrist pain",["Radial-sided wrist pain"],[30836]],[6001405,"Volar wrist pain",[],[30836]],[6001406,"Dorsal wrist pain",[],[30836]],[6001407,"Peroneal tendon tenderness",[],[25238]],[6001408,"Peroneal tendon subluxation",[],[34673]],[6001409,"Peroneal tendon injury",[],[34673]],[6001410,"Elevated circulating succinylacetone concentration",["Succinylacetone high in blood"],[4354]],[6001411,"Flat palate",[],[174]],[6001412,"Elevated circulating C-terminal telopeptide cross-link of type1 collagen concentration",[],[33386]],[6001413,"Exacerbated by pulmonary vasodilator exposure",["Exacerbated by pulmonary vasodilators"],[4000176]],[6001414,"Mercury exposure",[],[4000110]],[6001415,"Urinoma",[],[6000285]],[6001416,"Umbilical discharge",[],[4298]],[6001417,"Abnormal biparietal diameter",["Abnormal BPD"],[34245]],[6001418,"Abnormal fetal femur length",[],[25662]],[6001419,"Pain exacerbated by wrist ulnar deviation",[],[6001152]],[6001420,"Pain exacerbated by wrist radial deviation",[],[6001152]],[6001421,"Ulnar positive variance",[],[2973]],[6001422,"Negative ulnar variance",[],[2973]],[6001423,"Flexor carpi radialis tendonitis",["FCR inflammation"],[25230]],[6001424,"Transillumination test shows high light transmission",["Bright transillumination"],[25758]],[6001425,"Hyperleukocytosis",[],[1974]],[6001426,"Elbow instability",[],[20301]],[6001427,"Valgus instability of the elbow",[],[6001426]],[6001428,"Varus instability of the elbow",[],[6001426]],[6001429,"Limited foot eversion",["Foot eversion limited"],[34430]],[6001430,"Limited foot inversion",["Foot inversion limited"],[34430]],[6001431,"Positive synovial Tropheryma whipplei bacteria microscopy",[],[6000581]],[6001432,"Positive calf squeeze test",["Positive Simmonds-Thompson test","Positive Thompson test"],[11843]],[6001433,"Achilles tendon tear",[],[5109]],[6001434,"Positive bursa fluid gram stain",[],[430030]],[6001435,"Abnormal medial epicondyle morphology",[],[31095]],[6001436,"Medial humerus epicondyle avulsion fracture",[],[6001435]],[6001437,"Hand mass",["Bump on the hand","Hand growth","Hand nodule","Hand tumor","Lump on the hand","Hand cyst"],[5922]],[6001438,"Tenosynovitis",[],[100261]],[6001439,"Tigroid fundus",["Fundus tesselation","Mosaic fundus","Tessellated fundus"],[1098]],[6001440,"Decreased myocardial glycogen content",["Glycogen depletion in cardiac muscle tissue"],[1637]],[6001441,"CSF anti-myelin oligodendrocyte glycoprotein antibody positivity",[],[32265]],[6001442,"Spinal cord H sign",["H sign in the spinal cord"],[2143]],[6001443,"Abnormal testosterone: estradiol ratio",[],[33799]],[6001444,"Abnormal circulating insulin-like growth factor 3 concentration",[],[3117]],[6001445,"Decreased circulating insulin-like growth factor 3 concentration",[],[6001444]],[6001446,"Airway chondritis",["Respiratory tract chondritis"],[2087,100662]],[6001447,"Costochondritis",["Inflammation of he cartilage that connects the ribs to the sternum (breastbone)"],[772,100662]],[6001448,"History of ocular surgery",[],[430103]],[6001449,"Increased plantar fascia thickness",["Plantar fasciitis"],[1760]],[6001450,"Increased mixed venous oxygen saturation",[],[6001379]],[6001451,"Decreased mixed venous oxygen saturation",[],[6001379]],[6001452,"Chocolate brown blood",["Circulating blood brown or black"],[1871]],[6001453,"Elevated pCO2 gap",["Increased pCO2 gap"],[500164]],[6001454,"Putaminal eye sign",[],[31982]],[6001455,"Decreased coracohumeral distance",["Coracohumeral distance decreased"],[3043]],[6001456,"Abnormal deltoid muscle morphology",[],[1435]],[6001457,"Deltoid muscle tear",[],[1435]],[6001458,"Glenohumeral arthritis",["Shoulder arthritis"],[3043]],[6001459,"Dental root fusion",["Fused dental root","Unseparated dental root"],[6486]],[6001460,"Difficulty floating in water",[],[25142]],[6001461,"Aortitis",[],[1679]],[6001462,"Upper extremity claudication",[],[4417]],[6001463,"Tongue claudication",["Lingual claudication"],[4417]],[6001464,"Cerebral perivascular enhancement pattern",["Perivascular enhancement pattern"],[100659]],[6001465,"Long head of biceps tendon dislocation",["LHBT dislocation"],[100261]],[6001466,"Elevated circulating somatostatin concentration",["Somatostatin high in blood"],[10876]],[6001467,"Lack of attached gingiva",[],[168]],[6001468,"Spontaneous diaphragmatic rupture",[],[775]],[6001469,"Elevated alveolar-arterial (A-a) oxygen gradient",[],[500165]],[6001470,"Abnormal concentration of circulating metanephrines",["Metanephrines high in blood"],[3117]],[6001471,"Elevated circulating 3-O-methyldopa concentration",["3-O-methyldopa elevated","Elevated circulating 3-OMD concentration"],[10996]],[6001472,"Elevated CSF 3-O-methyldopa concentration",[],[25454]],[6001473,"Fixed fetal head flexion",[],[34245]],[6001474,"Abnormal rectosigmoid index",["Reversed rectosigmoid ratio"],[34207]],[6001475,"Umbilical cord edema",[],[10881]],[6001476,"Fetal enterolithiasis",["Enterolith in a fetal ultrasound"],[34207]],[6001477,"Malignant cells in CSF",["Cerebrospinal fluid cancer cells","Cerebrospinal fluid neoplastic cells","Positive CSF cytology"],[2921]],[6001478,"Greek warrior helmet sign",[],[34245]],[6001479,"Somatostatinoma",[],[100634]],[6001480,"Erythematous scalp plaque",[],[25474]],[6001481,"Positive hair pull test",[],[100037]],[6001482,"Loss of acquired purposeful hand skills",["Loss of acquired hand function","Loss of purposeful hand movements","Loss of purposeful hand skills","Loss of purposeful hand use","Regression of purposeful hand use"],[33044]],[6001483,"Loss of acquired spoken language",["Loss of expressive language","Regression of spoken language"],[34332]],[6001484,"Postnatal deceleration of headgrowth",[],[240]],[6001485,"Foot small muscle atrophy",[],[8944]],[6001486,"Abnormal gag reflex",[],[31826]],[6001487,"Abnormal lingual nerve physiology",[],[31911]],[6001488,"Abnormal vulvar morphology",["Abnormal vulva morphology","Abnormality of the vulva","Vulvar malformation"],[55]],[6001489,"Any structural anomaly of the neck region",[],[11006]],[6001490,"Trapezius asymmetry",[],[11006]],[6001491,"Axillary hyperpigmentation",["Dark axillae","Darkened underarms","Underarm hyperpigmentation"],[953]],[6001492,"Aberrant tympanic bony island",["Bony island of the tympanic membrane"],[40090]],[6001493,"Cranial exostosis",["Cranial exostoses","Skull exostosis"],[100777]],[6001494,"Cubital dimple",["Antecubital dimple","Cubital pit"],[10781]],[6001495,"Distal interphalangeal crease effacement of the 5th finger",["Faded 5th finger DIP crease"],[1032]],[6001496,"Duodenal web",["Duodenal diaphragm","Duodenal membrane"],[2246]],[6001497,"Eccentric nipple",["Off-center nipple"],[4404]],[6001498,"Enlarged median nerve",["Thickened median nerve"],[12645]],[6001499,"Eyebrow asymmetry",["Asymmetric eyebrows"],[534]],[6001500,"Labor dystocia",["Failure to progress in labor","Protracted labor"],[1787]],[6001501,"Foregut duplication cyst",["Foregut duplication"],[11140]],[6001502,"Hyperpigmented palmar creases",["Dark palmar creases","Hyperpigmentation of palmar creases"],[10490]],[6001503,"Hypoplastic clivus",["Clivus hypoplasia"],[10558]],[6001504,"Increased mammary adipose tissue",["Increased breast adipose tissue","Mammary fat excess"],[9126,31093]],[6001505,"Increased palmar soft tissue",["Fleshy palm"],[100871]],[6001506,"Interphalangeal crease effacement of the thumb",["Effacement of the interphalangeal crease of the thumb"],[6143]],[6001507,"Irregular anterior hairline",["Uneven frontal hairline"],[599]],[6001508,"Lateral deviation of the uvula",["Deviated uvula"],[172]],[6001509,"Limited metacarpophalangeal flexion of 2nd finger",[],[6135]],[6001510,"Limited metacarpophalangeal flexion of 3rd finger",[],[6135]],[6001511,"Limited metacarpophalangeal flexion of 4th finger",[],[6135]],[6001512,"Limited metacarpophalangeal flexion of 5th finger",[],[6135]],[6001513,"Short manubrium of malleus",["Hypoplastic malleus manubrium","Short malleus handle"],[11454]],[6001514,"Supernumerary thumb flexion crease",["Extra thumb flexion crease"],[6000109]],[6001515,"Transverse distal phalangeal crease",[],[1211]],[6001516,"Impaired first-phase insulin secretion",[],[11014]],[6001517,"Impaired gastric accommodation",[],[30895]],[6001518,"Prominent plantar fat pad of forefoot",["Prominent metatarsal fat pad","Prominent toe base pad"],[100872]],[6001519,"Perinasal hyperpigmentation",["Hyperpigmentation around the nose","Perinasal skin darkening"],[953]],[6001520,"Periumbilical hyperpigmentation",["Umbilical hyperpigmentation"],[953]],[6001521,"Periungual hyperpigmentation",["Hyperpigmentation around the nails","Periungual darkening"],[953]],[6001522,"Wide space between 2nd and 3rd toes",["Diastasis between the second and third toes","Increased 2nd-3rd toe gap"],[8094]],[6001523,"Sacral hemivertebra",[],[2937]],[6001524,"Poor oral mucosal wound healing",[],[31815]],[6001525,"Impaired speech-in-noise perception",["Reduced speech-in-noise reception"],[1963]],[6001526,"Retching",[],[2017]],[6001527,"Thenar muscle aplasia",[],[1227]],[6001528,"Toe hyperpigmentation",[],[953]],[6001529,"Tongue hyperpigmentation",["Hyperpigmentation of the tongue","Lingual hyperpigmentation"],[10284]],[6001530,"Overfaced vertebral pedicle",["Overfaced vertebral pedicles"],[30277]],[6001531,"Decreased circulating pepsinogen I concentration",[],[10876]],[6001532,"Displaced radial artery",[],[31640]],[6001533,"Abnormal body image",["Body image disturbance","Distorted body image","Disturbed body image"],[5200242]],[6001534,"Limited thumb abduction",["Reduced thumb abduction"],[1376]],[6001535,"Oral mucosal fragility",["Friable oral mucosa"],[11830]],[6001536,"Anti-complement component antibody positivity",[],[30057]],[6001537,"Anti-factor B antibody positivity",["Anti-FB antibody positivity"],[6001536]],[6001538,"Anti-ribosomal P protein antibody positivity",[],[30057]],[6001539,"Anti-DFS70 antibody positivity",[],[30057]],[6001540,"Premature patella ossification",[],[3045]],[6001541,"Erysipelas-like erythema",["Erysipeloid erythema","Pseudoerysipelas"],[10783]],[6001542,"Elevated urinary biotin level",["Biotin high in urine"],[6000531]],[6001543,"Second-wind phenomenon",[],[11804]],[6001544,"Small intestinal porcelain-white serosal plaque",[],[25129]],[6001545,"Dysplastic Liver Nodule",["Dysplastic hepatic nodule"],[2896]],[6001546,"Self-harm ideation",[],[25785]],[6001547,"Orbital 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