LCK-Associated Immunodeficiency

Preferred Label : LCK-Associated Immunodeficiency;

NCIt synonyms : IMD22; LCK Deficiency; Immunodeficiency 22;

NCIt related terms : LCK Deficiency (T Lymphocyte-specific protein TK);

NCIt definition : An extremely rare autosomal recessive condition caused by mutation(s) in the LCK gene, encoding tyrosine-protein kinase Lck. It is characterized by T-cell dysfunction.;

Details

Origin ID

C176808;

UMLS CUI

C4014233;

Currated CISMeF NLP mapping
- Immunodeficiency 22 [OMIM Phenotype]
- Severe combined immunodeficiency due to LCK deficiency [ICD-11 More detail]
- Severe combined immunodeficiency due to LCK deficiency [ORDO Disease]
- Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder) [SNOMED CT concept]
- immunodeficiency 22 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 22 [OMIM Phenotype]
- immunodeficiency 22 [DO Concept]
disease_mapped_to_gene
- LCK Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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