Immunodeficiency 48

Preferred Label : Immunodeficiency 48;

NCIt synonyms : STCD; Selective T-Cell Defect;

NCIt related terms : ZAP 70 deficiency;

NCIt definition : An autosomal recessive immunodeficiency caused by mutation(s) in the ZAP70 gene, encoding tyrosine-protein kinase ZAP-70. It is characterized by absent CD8 cells.;

Details

Origin ID

C176821;

UMLS CUI

C5575025;

Currated CISMeF NLP mapping
- Combined immunodeficiency due to ZAP70 deficiency [ORDO Disease]
- Deficiency of Zeta-chain associated protein kinase 70 (disorder) [SNOMED CT concept]
- Immunodeficiency 48 [OMIM Phenotype]
- ZAP70 deficiency [MeSH Supplementary Concept]
- ZAP70 deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of Zeta-chain associated protein kinase 70 (disorder) [SNOMED CT concept]
- Immunodeficiency 48 [OMIM Phenotype]
- ZAP70 deficiency [MeSH Supplementary Concept]
- ZAP70 deficiency [MeSH concept]
disease_mapped_to_gene
- ZAP70 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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