{"orpha":237,"name":"Duplication of urethra","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-237/","orphanet_url":"https://www.orpha.net/en/disease/detail/237","names":{"fr":{"name":"Duplication de l'urètre","definition":"Malformation urogénitale congénitale rare, englobant diverses anomalies anatomiques. La duplication de l'urètre est partielle ou totale. Le patient peut être asymptomatique ou présenter des symptômes tels qu'une incontinence, des infections urinaires récurrentes et des difficultés à uriner."},"de":{"name":"Urethra-Duplikation","definition":"Eine seltene angeborene Anomalie des Urogenitaltraktes, die ein breites Spektrum anatomischer Varianten umfasst, bei denen die Harnröhre teilweise oder vollständig doppelt angelegt ist. Dies kann asymptomatisch sein oder zu Symptomen wie Inkontinenz, wiederkehrenden Harnwegsinfekten und Schwierigkeiten beim Wasserlassen führen."},"es":{"name":"Duplicación de la uretra","definition":"Es una anomalía genitourinaria congénita y poco frecuente que abarca un amplio espectro de variantes anatómicas en las que la uretra está duplicada parcial o totalmente. Puede permanecer asintomática o provocar síntomas tales como incontinencia, infecciones urinarias recurrentes y dificultad en la micción."},"it":{"name":"Duplicazione dell'uretra","definition":"La duplicazione dell'uretra è un'anomalia congenita rara dell'apparato genito-urinario, che comprende varie anomalie anatomiche. La duplicazione può essere parziale o completa; il paziente può essere asintomatico oppure presentare alcuni segni clinici come l'incontinenza urinaria, le infezioni urinarie ricorrenti e la difficoltà alla minzione."},"nl":{"name":"Duplicatie van urethra","synonyms":["Duplicatie van urinebuis"],"definition":"Een zeldzame, congenitale urogenitale anomalie, gekenmerkt door een breed spectrum van anatomische varianten waarbij urethra deels of volledig is gedupliceerd, hetgeen asymptomatisch kan zijn of kan leiden tot symptomen zoals incontinentie, recidiverende infecties van urinewegen, en moeilijkheden met urineren."},"pt":{"name":"Duplicação da uretra"},"pl":{"name":"Zdwojenie cewki moczowej","definition":"Rzadka wrodzona wada układu moczowo-płciowego, obejmująca szerokie spektrum wariantów anatomicznych, w której cewka moczowa jest częściowo lub całkowicie zdwojona, co może przebiegać bezobjawowo lub dawać objawy, takie jak nietrzymanie moczu, nawracające infekcje dróg moczowych i trudności w oddawaniu moczu."},"cs":{"name":"Duplikace uretry"},"uk":{"name":"Дублювання уретри","definition":"A rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating."},"zh":{"name":"重复尿道"},"tr":{"name":"Üretra duplikasyonu"}},"xrefs":[{"source":"ICD-10","code":"Q64.7","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB31.5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2069509755"},{"source":"MONDO","code":"0016529","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266348","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1975","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":357506,"name":"Genetic non-syndromic renal or urinary tract malformation","classifications":[156]},{"orpha":93546,"name":"Non-syndromic renal or urinary tract malformation","classifications":[147,188,233]},{"orpha":182124,"name":"Non-syndromic urogenital tract malformation of male and female","classifications":[147,185,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"19231292[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-12","source":"27887914[PMID]_32063365[PMID]_32015628[PMID]_31571759[PMID]","terms":[{"hpo":"HP:0012732","label":"Anorectal anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000039","label":"Epispadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010447","label":"Anal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100519","label":"Anuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025489","label":"Bladder duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000041","label":"Chordee","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008743","label":"Coronal hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008706","label":"Distal urethral duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001543","label":"Gastroschisis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003244","label":"Penile hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025407","label":"Rectourethral fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001153","label":"Septate vagina","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012583","label":"Unilateral renal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012227","label":"Urethral stricture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008635","label":"Urinary bladder wall hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003762","label":"Uterus didelphys","frequency":"Occasional (29-5%)","criteria":null}]}}