ORPHA:93547
Syndromic renal or urinary tract malformation
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndromic renal or urinary tract malformation | |
| fr | Anomalie syndromique du développement du rein et des voies urinaires | |
| de | Nieren/Harnwegsfehlbildung, syndromale | |
| es | Malformación sindrómica del tracto urinario o renal | |
| it | Malformazione sindromica del tratto urinario o renale | |
| nl | Syndromale malformatie van nier of urinewegen | |
| pt | Malformação renal ou do trato urinário sindromática | |
| pl | Syndromiczne malformacje nerek lub układu moczowego | |
| cs | Syndromy s malformacemi ledvinného nebo močového traktu | |
| uk | Синдромальні вади розвитку нирок або сечовивідних шляхів | |
| zh | 综合征型肾或尿路畸形 | |
| tr | Sendromik böbrek veya idrar yolu malformasyonu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681584 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183539Genetic renal or urinary tract malformation
rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:93545Renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare renal diseases
Children (70):
- ORPHA:56722q11.2 deletion syndrome
- ORPHA:5084888q24.3 microdeletion syndrome
- ORPHA:1133AREDYLD syndrome
- ORPHA:971Acrorenal syndrome
- ORPHA:52Alagille syndrome
- ORPHA:1064Aniridia-renal agenesis-psychomotor retardation syndrome
- ORPHA:2697Arthrogryposis-renal dysfunction-cholestasis syndrome
- ORPHA:1192Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- ORPHA:1834Axial mesodermal dysplasia spectrum
- ORPHA:217266BNAR syndrome
- ORPHA:107BOR syndrome
- ORPHA:116Beckwith-Wiedemann syndrome
- ORPHA:138CHARGE syndrome
- ORPHA:195Cat-eye syndrome
- ORPHA:1756Caudal duplication
- ORPHA:3027Caudal regression syndrome
- ORPHA:729781Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome
- ORPHA:521438Congenital vertebral-cardiac-renal anomalies syndrome
- ORPHA:2111Cystic hamartoma of lung and kidney
- ORPHA:3411Double uterus-hemivagina-renal agenesis syndrome
- ORPHA:1896EEC syndrome
- ORPHA:289Ellis-Van Creveld syndrome
- ORPHA:1973Faciocardiorenal syndrome
- ORPHA:2256Fibulo-ulnar hypoplasia-renal anomalies syndrome
- ORPHA:2052Fraser syndrome
- ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney disease
- ORPHA:955Hajdu-Cheney syndrome
- ORPHA:3186Holoprosencephaly-radial heart renal anomalies syndrome
- ORPHA:2186Hydrocephalus-blue sclerae-nephropathy syndrome
- ORPHA:2237Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- ORPHA:2278Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
- ORPHA:444069Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
- ORPHA:439897Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
- ORPHA:3109Mayer-Rokitansky-Küster-Hauser syndrome
- ORPHA:564Meckel syndrome
- ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndrome
- ORPHA:592574Menke-Hennekam syndrome
- ORPHA:2774Multicentric carpo-tarsal osteolysis with or without nephropathy
- ORPHA:500135Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
- ORPHA:3032NPHP3-related Meckel-like syndrome
- ORPHA:2669Nephrosis-deafness-urinary tract-digital malformations syndrome
- ORPHA:2673Neurofaciodigitorenal syndrome
- ORPHA:648Noonan syndrome
- ORPHA:2750Orofaciodigital syndrome type 1
- ORPHA:656130PBX1-related congenital anomalies of kidney-urinary tract syndrome
- ORPHA:672Pallister-Hall syndrome
- ORPHA:3015Radio-renal syndrome
- ORPHA:2838Renal caliceal diverticuli-deafness syndrome
- ORPHA:1475Renal coloboma syndrome
- ORPHA:71273Renal nutcracker syndrome
- ORPHA:783Rubinstein-Taybi syndrome
- ORPHA:597743SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
- ORPHA:798Schinzel-Giedion syndrome
- ORPHA:708166Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome
- ORPHA:373Simpson-Golabi-Behmel syndrome
- ORPHA:818Smith-Lemli-Opitz syndrome
- ORPHA:2820Spastic paraplegia-nephritis-deafness syndrome
- ORPHA:689822Structural heart defects-renal anomalies syndrome
- ORPHA:726799TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome
- ORPHA:500095Tall stature-intellectual disability-renal anomalies syndrome
- ORPHA:3316Thomas syndrome
- ORPHA:3326Thymic-renal-anal-lung dysplasia
- ORPHA:3327Thyrocerebrorenal syndrome
- ORPHA:3378Trisomy 13 syndrome
- ORPHA:3380Trisomy 18 syndrome
- ORPHA:881Turner syndrome
- ORPHA:3404Ulbright-Hodes syndrome
- ORPHA:2704Urofacial syndrome
- ORPHA:887VACTERL/VATER association
- ORPHA:893WAGR syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93547
- This record as JSON: /data/d/93547.json