tyrosine kinase 2 deficiency

Preferred Label : tyrosine kinase 2 deficiency;

MeSH note : mutation in TYK2;

MeSH synonym : HIES with atypical mycobacteriosis, autosomal recessive; Hyper-IgE syndrome with atypical mycobacteriosis, autosomal recessive; TYK2 deficiency;

Details

Origin ID

C566928;

UMLS CUI

C1969086;

Automatic exact mappings (from CISMeF team)
- immunodeficiency 35 [DO Concept]
Currated CISMeF NLP mapping
- Autosomal recessive tyrosine kinase 2 deficiency [ICD-11 More detail]
- Hyperimmunoglobulin E syndrome due to TYK2 deficiency [ICD-11 More detail]
- 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]
DO Cross reference
- immunodeficiency 35 [DO Concept]
MeSH term(s) associated for indexing
- TYK2 kinase [MeSH Descriptor]
- job syndrome [MeSH Descriptor]
Record concept(s)
- tyrosine kinase 2 deficiency [MeSH concept]
See also
- TYK2 kinase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive tyrosine kinase 2 deficiency [ICD-11 More detail]
- 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]

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