ORPHA:117573
Syndromic anorectal 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 anorectal malformation | |
| fr | Malformation anorectale syndromique | |
| de | Anorektale Fehlbildung, syndromale | |
| es | Malformación anorrectal sindrómica | |
| it | Malformazione anorettale sindromica | |
| nl | Syndromale anorectale malformatie | |
| pt | Malformação ano-retal sindromática | |
| pl | Syndromiczna malformacja odbytowo-odbytnicza | |
| cs | Syndromické anorektální malformace | |
| uk | Синдромальна аноректальна вада розвитку | |
| zh | 综合征性肛门直肠畸形 | |
| tr | Sendromik anorektal malformasyon |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15246 | E | validated | |
| UMLS | C5681738 | E | validated | |
| GARD | 19874 | 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 (1):
- ORPHA:96346Anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
Children (42):
- ORPHA:56722q11.2 deletion syndrome
- ORPHA:297346,XX difference of sex development-anorectal anomalies syndrome
- ORPHA:758576q terminal deletion syndrome
- ORPHA:782Axenfeld-Rieger syndrome
- ORPHA:1834Axial mesodermal dysplasia spectrum
- ORPHA:217266BNAR syndrome
- ORPHA:1225Baller-Gerold syndrome
- ORPHA:195Cat-eye syndrome
- ORPHA:1756Caudal duplication
- ORPHA:444941Caudal regression-sirenomelia spectrum
- ORPHA:93929Cloacal exstrophy
- ORPHA:1552Currarino syndrome
- ORPHA:1590Distal deletion 13q syndrome
- ORPHA:870Down syndrome
- ORPHA:496751EVEN-plus syndrome
- ORPHA:93932FG syndrome type 1
- ORPHA:1305Feingold syndrome
- ORPHA:2052Fraser syndrome
- ORPHA:2345Isolated Klippel-Feil syndrome
- ORPHA:2315Johanson-Blizzard syndrome
- ORPHA:2322Kabuki syndrome
- ORPHA:83628LUMBAR syndrome
- ORPHA:2408Lowe-Kohn-Cohen syndrome
- ORPHA:96185Maternal uniparental disomy of chromosome 16 syndrome
- ORPHA:2578Mayer-Rokitansky-Küster-Hauser syndrome type 2
- ORPHA:2556Microphthalmia with linear skin defects syndrome
- ORPHA:611201Oculogastrointestinal-neurodevelopmental syndrome
- ORPHA:93293Okihiro syndrome
- ORPHA:2745Opitz GBBB syndrome
- ORPHA:672Pallister-Hall syndrome
- ORPHA:884Pallister-Killian syndrome
- ORPHA:96176Ring chromosome 13 syndrome
- ORPHA:93270Short rib-polydactyly syndrome, Saldino-Noonan type
- ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
- ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndrome
- ORPHA:857Townes-Brocks syndrome
- ORPHA:3378Trisomy 13 syndrome
- ORPHA:3380Trisomy 18 syndrome
- ORPHA:3138Ulnar-mammary syndrome
- ORPHA:3412VACTERL with hydrocephalus
- ORPHA:887VACTERL/VATER association
- ORPHA:1436X-linked skeletal dysplasia-intellectual disability 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/117573
- This record as JSON: /data/d/117573.json