ORPHA:601023
Non-syndromic rectal stenosis
Synonyms: Non-syndromic ARM with rectal stenosis · Non-syndromic anorectal malformation with rectal stenosis
- 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 rectal stenosis | Non-syndromic ARM with rectal stenosis · Non-syndromic anorectal malformation with rectal stenosis |
| fr | Sténose rectale non syndromique | ARM non syndromique avec sténose rectale · MAR non syndromique avec sténose rectale · Malformation anorectale non syndromique avec sténose rectale |
| de | Nicht-syndromale Rektumstenose | Nicht-syndromale ARM mit Rektumstenose · Nicht-syndromale anorektale Fehlbildung mit Rektumstenose |
| es | Estenosis rectal no sindrómica | MAR no sindrómica con estenosis rectal · Malformación anorrectal no sindrómica con estenosis rectal |
| it | Stenosi rettale non sindromica | MAR non sindromica con stenosi rettale · Malformazione anorettale non sindromica con stenosi rettale |
| nl | Niet-syndromale stenose van rectum | Niet-syndromale ARM met stenose van rectum · Niet-syndromale anorectale malformatie met stenose van rectum · Niet-syndromale stenose van endeldarm |
| pt | Malformação anorrectal não-sindromática com estenose rectal | |
| pl | Niesyndromiczne zwężenie odbytnicy | = en |
| cs | Nesyndromická anorektální malformace se stenózou rekta | = en |
| uk | Несиндромальна аноректальна вада розвитку зі стенозом прямої кишки | Несиндромальна ARM зі стенозом прямої кишки |
| zh | Non-syndromic anorectal malformation with rectal stenosis | Non-syndromic ARM with rectal stenosis |
| tr | Non-syndromic anorectal malformation with rectal stenosis | Non-syndromic ARM with rectal stenosis |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q42.0 | NTBT | attributed | validated |
| ICD-11 | LB17.0 | NTBT | attributed | validated |
| MONDO | 0035791 | E | validated | |
| UMLS | C5680236 | 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/601023
- This record as JSON: /data/d/601023.json