ORPHA:557
Non-syndromic anorectal malformation
Synonyms: Non-syndromic ARM
- Type
- Clinical group
- Group
- Group of disorders
- Age of onset
- Antenatal, Neonatal
- Status
- active
A wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic anorectal malformation | Non-syndromic ARM |
| fr | Malformation anorectale non syndromique | ARM non syndromique |
| de | Anorektale Fehlbildung, nicht-syndromale | Nicht-syndromale ARM |
| es | Malformación anorrectal no sindrómica | |
| it | Malformazione anorettale non sindromica | MAR non sindromica |
| nl | Niet-syndromale anorectale malformatie | Niet-syndromale ARM |
| pt | Malformação anoretal não-sindromática | |
| pl | Izolowana malformacja odbytu i odbytnicy | = en |
| cs | Izolované anorektální malformace | = en |
| uk | Несиндромна аноректальна вада розвитку | Несиндромальний АРМ |
| zh | 孤立型肛门直肠畸形 | = en |
| tr | İzole anorektal malformasyon | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 107100 | E | validated | |
| OMIM | 207500 | BTNT | validated | |
| OMIM | 301800 | BTNT | validated | |
| ICD-11 | LB17.0 | NTBT | specific | validated |
| MONDO | 18916 | E | validated | |
| MeSH | C537771 | E | validated | |
| UMLS | C5680419 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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 (12):
- ORPHA:601033Non-syndromic H-type fistula
- ORPHA:601008Non-syndromic anal stenosis
- ORPHA:601002Non-syndromic anorectal malformation without fistula
- ORPHA:600998Non-syndromic cloacal malformation
- ORPHA:600952Non-syndromic perineal fistula
- ORPHA:601013Non-syndromic pouch colon
- ORPHA:601018Non-syndromic rectal atresia
- ORPHA:601023Non-syndromic rectal stenosis
- ORPHA:600961Non-syndromic rectourethral fistula
- ORPHA:601028Non-syndromic rectovaginal fistula
- ORPHA:600984Non-syndromic rectovesical fistula
- ORPHA:600993Non-syndromic vestibular fistula
Codes that Orphanet moved or referred to this one:
- ORPHA:171201OBSOLETE: High isolated anorectal malformation referred to · inactive
- ORPHA:171208OBSOLETE: Intermediate isolated anorectal malformation referred to · inactive
- ORPHA:171215OBSOLETE: Low isolated anorectal malformation referred to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
21 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 20 / 100 000 | Worldwide | Value and class | Validated | 17651510[PMID]_[EXPERT] |
| Prevalence at birth | 1-5 / 10 000 | 24 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2009[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 78 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2006[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 26.2 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.4 / 100 000 | Croatia | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 21.3 / 100 000 | Denmark | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 23.6 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 53.5 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 43.2 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 28.9 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.3 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 29.2 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 29.5 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.6 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.7 / 100 000 | Portugal | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 13.8 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 49 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 21.6 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 28.6 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 60.8 / 100 000 | Saudi Arabia | Value and class | Validated | 23232683[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/557
- This record as JSON: /data/d/557.json