ORPHA:601002
Non-syndromic anorectal malformation without fistula
Synonyms: Non-syndromic ARM without fistula · Non-syndromic anorectal malformation with no fistula
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic anorectal malformation without fistula | Non-syndromic ARM without fistula · Non-syndromic anorectal malformation with no fistula |
| fr | Malformation anorectale non syndromique sans fistule | ARM non syndromique sans fistule · MAR non syndromique sans fistule |
| de | Nicht-syndromale anorektale Fehlbildung ohne Fistel | Nicht-syndromale ARM ohne Fistel |
| es | Malformación anorrectal no sindrómica sin fístula | MAR no sindrómica sin fístula |
| it | Malformazione anorettale non sindromica senza fistola | MAR non sindromica senza fistola |
| nl | Niet-syndromale anorectale malformatie zonder fistel | Niet-syndromale ARM zonder fistel |
| pt | Malformação anorrectal não-sindromática sem fístula | |
| pl | Niesyndromiczna anorektalna wada rozwojowa bez przetoki | Niesyndromiczna anorektalna wada rozwojowa bez obecności jakiejkolwiek przetoki |
| cs | Nesyndromická anorektální malformace bez píštěle | = en |
| uk | Несиндромальна аноректальна вада без нориць | Несиндромальна аноректальна вада розвитку без нориць · Несиндромальна ARM без нориць |
| zh | Non-syndromic anorectal malformation without fistula | = en |
| tr | Non-syndromic anorectal malformation without fistula | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q42.1 | NTBT | attributed | validated |
| ICD-10 | Q42.3 | NTBT | attributed | validated |
| ICD-11 | LB17.0 | NTBT | attributed | validated |
| MONDO | 0035787 | E | validated | |
| UMLS | C5680239 | 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:557Non-syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Worldwide | Class only | Validated | 16226976[PMID]_31194415[PMID]_ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 16226976[PMID]_31194415[PMID]_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.
6
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/601002
- This record as JSON: /data/d/601002.json