ORPHA:600952
Non-syndromic perineal fistula
Synonyms: Non-syndromic ARM with perineal fistula · Non-syndromic anorectal malformation with perineal fistula
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic perineal fistula | Non-syndromic ARM with perineal fistula · Non-syndromic anorectal malformation with perineal fistula |
| fr | Fistule périnéale non syndromique | ARM non syndromique avec fistule périnéale · MAR non syndromique avec fistule périnéale · Malformation anorectale non syndromique avec fistule périnéale |
| de | Nicht-syndromale perineale Fistel | Nicht-syndromale ARM mit perinealer Fistel · Nicht-syndromale anorektale Fehlbildung mit perinealer Fistel |
| es | Fístula perineal no sindrómica | MAR no sindrómica con fístula perineal · Malformación anorrectal no sindrómica con fístula perineal |
| it | Fistola perineale non sindromica | MAR non sindromica con fistola perineale · Malformazione anorettale non sindromica con fistola cutanea |
| nl | Niet-syndromale perineale fistel | Niet-syndromale ARM met perineale fistel · Niet-syndromale anorectale malformatie met fistel van perineum · Niet-syndromale anorectale malformatie met perineale fistel |
| pt | Fístula perineal não-sindromática | Malformação anorrectal não-sindromática com fístula perineal |
| pl | Niesyndromiczna przetoka krocza | Niesyndromiczna wada rozwojowa odbytu z przetoką kroczową · Niesyndromiczna anorektalna wada rozwojowa z przetoką skórną |
| cs | Nesyndromická anorektální malformace s perineální píštělí | = en |
| uk | Несиндромальна аноректальна вада розвитку з норицею промежини | Несиндромальна аноректальна вада розвитку з шкірною норицею · Несиндромальна ARM з шкірною норицею · Несиндромальна ARM з промежинною норицею |
| zh | Non-syndromic anorectal malformation with perineal fistula | Non-syndromic ARM with cutaneous fistula · Non-syndromic ARM with perineal fistula · Non-syndromic anorectal malformation with cutaneous fistula |
| tr | Non-syndromic anorectal malformation with perineal fistula | Non-syndromic ARM with cutaneous fistula · Non-syndromic ARM with perineal fistula · Non-syndromic anorectal malformation with cutaneous fistula |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q42.0 | NTBT | attributed | validated |
| ICD-10 | Q42.2 | NTBT | attributed | validated |
| ICD-11 | LB17.0 | NTBT | attributed | validated |
| MONDO | 0035780 | E | validated | |
| UMLS | C5680241 | 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:557Non-syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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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.
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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/600952
- This record as JSON: /data/d/600952.json