Gastrointestinal Defects and Immunodeficiency Syndrome

Preferred Label : Gastrointestinal Defects and Immunodeficiency Syndrome;

NCIt synonyms : GIDID; Multiple Intestinal Atresia With Combined Immune Deficiency;

NCIt related terms : CID with multiple intestinal atresia; CID-MIA;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the TTC7A gene encoding tetratricopeptide repeat protein 7A. It is characterized by multiple intestinal atresia, multi-organ impairment and associated with T- and B-cell dysfunction.;

NCI Metathesaurus CUI : CL1642615;

Details

Origin ID

C176792;

UMLS CUI

C5234880;

Automatic exact mappings (from CISMeF team)
- Gastrointestinal defect and immunodeficiency syndrome [OMIM phenotypic series]
- multiple intestinal atresia [DO Concept]
Currated CISMeF NLP mapping
- Gastrointestinal defects and immunodeficiency syndrome 1 [OMIM Phenotype]
See also inter- (CISMeF)
- Multiple gastrointestinal atresias (disorder) [SNOMED CT concept]
- Multiple intestinal atresia [ORDO Disease]
- intestinal atresia, multiple [MeSH concept]
- intestinal atresia, multiple [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gastrointestinal defects and immunodeficiency syndrome 1 [OMIM Phenotype]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TTC7A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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