Autosomal recessive tyrosine kinase 2 deficiency

Preferred Label : Autosomal recessive tyrosine kinase 2 deficiency;

ICD-11 definition : This is a deficiency autosomal recessive gene which encodes a member of the tyrosine kinase and, to be more specific, the Janus kinases (JAKs) protein families.;

ICD-11 synonym : Autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis;

Details

Origin ID

1430374049;

UMLS CUI

C1969086;

Currated CISMeF NLP mapping
- Immunodeficiency 35 [OMIM Phenotype]
- Susceptibility to infection due to TYK2 deficiency [ORDO Disease]
- Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder) [SNOMED CT concept]
- immunodeficiency 35 [DO Concept]
- tyrosine kinase 2 deficiency [MeSH Supplementary Concept]
- tyrosine kinase 2 deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 35 [OMIM Phenotype]
- Susceptibility to infection due to TYK2 deficiency [ORDO Disease]
- Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder) [SNOMED CT concept]
- tyrosine kinase 2 deficiency [MeSH concept]
- tyrosine kinase 2 deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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