Diarrhea 5, with Tufting Enteropathy, Congenital

Preferred Label : Diarrhea 5, with Tufting Enteropathy, Congenital;

NCIt synonyms : Diarrhea-5 with Congenital Tufting Enteropathy; DIAR5;

NCIt definition : A rare autosomal recessive condition caused by mutation(s) in the EPCAM gene, encoding epithelial cell adhesion molecule. It is characterized by intractable diarrhea in infancy, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum.;

Details

Origin ID

C183530;

UMLS CUI

C2750737;

Currated CISMeF NLP mapping
- Diarrhea 5, with tufting enteropathy, congenital [OMIM Phenotype]
- congenital diarrhea 5 with tufting enteropathy [DO Concept]
- diarrhea 5, with tufting enteropathy, congenital [MeSH Supplementary Concept]
- diarrhea 5, with tufting enteropathy, congenital [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diarrhea 5, with tufting enteropathy, congenital [OMIM Phenotype]
- diarrhea 5, with tufting enteropathy, congenital [MeSH Supplementary Concept]
- diarrhea 5, with tufting enteropathy, congenital [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- EPCAM Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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