ORPHA:165707
Syndromic urogenital 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 urogenital tract malformation | |
| fr | Malformation urogénitale syndromique | |
| de | Fehlbildung des Urogenitaltraktes, syndromale | |
| es | Malformación sindrómica del tracto urogenital | |
| it | Malformazione sindromica del tratto urogenitale | |
| nl | Syndromale urogenitale kanaalmalformatie | |
| pt | Malformação sindrómica do trato urogenital sindromática | |
| pl | Syndromiczna malformacja układu moczowo-płciowego | |
| cs | Syndromické malformace urogenitálního traktu | |
| uk | Синдромна вада розвитку сечостатевої системи | |
| zh | 综合征性泌尿生殖道畸形 | |
| tr | Sendromik ürogenital sistem malformasyonu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15620 | E | validated | |
| UMLS | C5680442 | 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 (2):
- ORPHA:156622Genetic urogenital tract malformation
rare genetic diseases - ORPHA:83001Urogenital tract malformation
rare developmental anomalies during embryogenesis; rare urogenital diseases
Children (38):
- ORPHA:9626348,XXXY syndrome
- ORPHA:1048,XXYY syndrome
- ORPHA:9932948,XYYY syndrome
- ORPHA:9626449,XXXXY syndrome
- ORPHA:2510718p23.1 microdeletion syndrome
- ORPHA:423655ARX-related encephalopathy-brain malformation spectrum
- ORPHA:915Aarskog-Scott syndrome
- ORPHA:921Abruzzo-Erickson syndrome
- ORPHA:1974Autosomal recessive faciodigitogenital syndrome
- ORPHA:567502B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
- ORPHA:1299Branchioskeletogenital syndrome
- ORPHA:138CHARGE syndrome
- ORPHA:444941Caudal regression-sirenomelia spectrum
- ORPHA:495875Cerebello-oculo-facio-genital syndrome
- ORPHA:2437Czeizel-Losonci syndrome
- ORPHA:3224Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- ORPHA:3411Double uterus-hemivagina-renal agenesis syndrome
- ORPHA:726684Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome
- ORPHA:2957Guttmacher syndrome
- ORPHA:2211Hypertelorism-hypospadias-polysyndactyly syndrome
- ORPHA:2261Hypospadias-intellectual disability, Goldblatt type syndrome
- ORPHA:85173IMAGe syndrome
- ORPHA:597749KAT6B-related multiple congenital anomalies syndrome
- ORPHA:439897Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
- ORPHA:1046Lethal hemolytic anemia-genital anomalies syndrome
- ORPHA:2487Lower limb malformation-hypospadias syndrome
- ORPHA:500135Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
- ORPHA:1655Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- ORPHA:2491Müllerian duct anomalies-limb anomalies syndrome
- ORPHA:2669Nephrosis-deafness-urinary tract-digital malformations syndrome
- ORPHA:684305Neurooculocardiogenitourinary syndrome
- ORPHA:2745Opitz GBBB syndrome
- ORPHA:2252Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
- ORPHA:597743SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
- ORPHA:2353Schilbach-Rott syndrome
- ORPHA:3176Spina bifida-hypospadias syndrome
- ORPHA:3341Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
- ORPHA:881Turner 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/165707
- This record as JSON: /data/d/165707.json