Aganglionosis, total intestinal

Preferred Label : Aganglionosis, total intestinal;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 202550;

Details

Origin ID

202550;

UMLS CUI

C0345240;

Automatic exact mappings (from CISMeF team)
- Hirschsprung's disease [DO Concept]
- Total Intestinal Aganglionosis [NCIt concept]
Currated CISMeF NLP mapping
- Aganglionosis, total intestinal [MeSH concept]
- Total intestinal aganglionosis [HPO term]
- Total intestinal aganglionosis (disorder) [SNOMED CT concept]
- aganglionosis, total intestinal [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Total intestinal aganglionosis [HPO term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Aganglionosis, total intestinal [MeSH concept]
- Total Intestinal Aganglionosis [NCIt concept]
- Total intestinal aganglionosis [HPO term]
- Total intestinal aganglionosis (disorder) [SNOMED CT concept]
- aganglionosis, total intestinal [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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