diarrhea 5, with tufting enteropathy, congenital

Preferred Label : diarrhea 5, with tufting enteropathy, congenital;

MeSH note : mutations in EPCAM;

MeSH synonym : intestinal epithelial cell dysplasia; enteropathy, congenital tufting;

Details

Origin ID

C567703;

UMLS CUI

C2750737;

Automatic exact mappings (from CISMeF team)
- Congenital tufting enteropathy [ORDO Disease]
- Intestinal epithelial dysplasia [ICD-11 More detail]
Currated CISMeF NLP mapping
- Congenital epithelial dysplasia of intestine (disorder) [SNOMED CT concept]
- Diarrhea 5, with Tufting Enteropathy, Congenital [NCIt concept]
- Diarrhea 5, with tufting enteropathy, congenital [OMIM Phenotype]
- congenital diarrhea 5 with tufting enteropathy [DO Concept]
MeSH term(s) associated for indexing
- diarrhea, infantile [MeSH Descriptor]
- malabsorption syndromes [MeSH Descriptor]
Record concept(s)
- 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 [NCIt concept]
- Diarrhea 5, with tufting enteropathy, congenital [OMIM Phenotype]
- congenital diarrhea 5 with tufting enteropathy [DO Concept]

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