Anus, imperforate

Preferred Label : Anus, imperforate;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : X-linked;

Prefixed ID : 301800;

Details

Origin ID

301800;

UMLS CUI

C0003466;

Automatic exact mappings (from CISMeF team)
- Congenital absence, atresia and stenosis of anus without fistula [ICD-10 Sub-category]
- Congenital absence, atresia and stenosis of anus without fistula [ICD-10 Sub-category (who)]
- Non-syndromic anorectal malformation [ORDO Disease]
- imperforate anus [DO Concept]
Currated CISMeF NLP mapping
- ANAL ATRESIA [WHO-ART Included Term]
- ANUS IMPERFORATE [WHO-ART Preferred Term]
- Anal atresia [PASCAL descriptor]
- Anal atresia [MedDRA Preferred Term]
- Anal atresia [HPO term]
- Anal atresia (disorder) [SNOMED CT concept]
- Anus imperforate [MedDRA LLT]
- Imperforate Anus [NCIt concept]
- Imperforate anus [MedDRA LLT]
- Imperforate anus (disorder) [SNOMED CT concept]
- anal atresia [Disease (Nov.)]
- anus, imperforate [MeSH Descriptor]
- anus, imperforate [MeSH concept]
DO Cross reference
- imperforate anus [DO Concept]
HPO term(s)
- Anal atresia [HPO term]
- Ectopic anus [HPO term]
- Hearing impairment [HPO term]
- Hypospadias [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Non-syndromic anorectal malformation [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- ANAL ATRESIA [WHO-ART Included Term]
- ANUS IMPERFORATE [WHO-ART Preferred Term]
- Anal atresia [MedDRA Preferred Term]
- Anal atresia [HPO term]
- Anal atresia [PASCAL descriptor]
- Anal atresia (disorder) [SNOMED CT concept]
- Anus imperforate [MedDRA LLT]
- Congenital anal atresia [MedDRA LLT]
- Imperforate Anus [NCIt concept]
- Imperforate anus [MedDRA LLT]
- Imperforate anus (disorder) [SNOMED CT concept]
- anal atresia [Disease (Nov.)]
- anus, imperforate [MeSH Descriptor]
- anus, imperforate [MeSH concept]
- congenital atresia of anus [SNOMED Notion]
- imperforate anus [DO Concept]

Keyword's position in hierarchy(ies) :

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