ORPHA:601013
Non-syndromic pouch colon
Synonyms: Non-syndromic ARM with pouch colon · Non-syndromic anorectal malformation with pouch colon
- 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 pouch colon | Non-syndromic ARM with pouch colon · Non-syndromic anorectal malformation with pouch colon |
| fr | Malformation 'Pouch colon' non syndromique | ARM non syndromique avec "pouch colon" · MAR non syndromique avec 'pouch colon' · Malformation anorectale non syndromique avec 'pouch colon' · Malformation côlon-poche non syndromique |
| de | Nicht-syndromaler Pouch-Kolon | Nicht-syndromale ARM mit Pouch-Kolon · Nicht-syndromale anorektale Fehlbildung mit Pouch-Kolon |
| es | Bolsa colónica no sindrómica | MAR no sindrómica con bolsa colónica · Malformación anorrectal no sindrómica con bolsa colónica |
| it | Tasca non sindromica del colon | Malformazione anorettale non sindromica con tasca del colon · ARM non sindromica con tasca del colon |
| nl | Niet-syndromale pouch van colon | Niet-syndromale ARM met pouch van colon · Niet-syndromale anorectale malformatie met pouch van colon · Niet-syndromale colonpouch |
| pt | Malformação anorrectal não-sindromática com bolsa do colón | |
| pl | Niesyndromiczna kieszonka okrężnicy | = en |
| cs | Nesyndromická anorektální malformace s vychlípeninou tlustého střeva | = en |
| uk | Несиндромальна аноректальна вада розвитку з мішкоподібною ободовою кишкою | Несиндромальна ARM з мішечковою товстою кишкою |
| zh | Non-syndromic anorectal malformation with pouch colon | Non-syndromic ARM with pouch colon |
| tr | Non-syndromic anorectal malformation with pouch colon | Non-syndromic ARM with pouch colon |
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 | 0035789 | E | validated | |
| UMLS | C5680234 | 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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/601013
- This record as JSON: /data/d/601013.json