ZAP70 deficiency

Preferred Label : ZAP70 deficiency;

MeSH synonym : zeta-associated-protein 70 deficiency; Zeta-Associated protein 70 deficiency; selective T-Cell defect; Zap70-Related scid; Zap70-Related severe combined immunodeficiency;

Détails

Origin ID

C536722;

UMLS CUI

C2931299;

Automatic exact mappings (from CISMeF team)
- Combined immunodeficiency due to ZAP70 deficiency [ICD-11 More detail]
- immunodeficiency 48 [DO Concept]
CISMeF manual mappings
- Combined immunodeficiency due to ZAP70 deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Deficiency of Zeta-chain associated protein kinase 70 (disorder) [SNOMED CT concept]
- Immunodeficiency 48 [OMIM Phenotype]
- Immunodeficiency 48 [NCIt concept]
MeSH term(s) associated for indexing
- ZAP-70 protein-tyrosine kinase [MeSH Descriptor]
- severe combined immunodeficiency [MeSH Descriptor]
Record concept(s)
- ZAP70 deficiency [MeSH concept]
See also (suggested by CISMeF)
- ZAP70 protein, human [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined immunodeficiency due to ZAP70 deficiency [ORDO Disease]
- Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder) [SNOMED CT concept]
- Deficiency of Zeta-chain associated protein kinase 70 (disorder) [SNOMED CT concept]
- Immunodeficiency 48 [OMIM Phenotype]
- Immunodeficiency 48 [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Consulter ci-dessous une sélection des principales ressources :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients