1197415001: Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Mendelian susceptibility to mycobacterial disease\Susceptibility to infection due to TYK2 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Susceptibility to infection due to TYK2 deficiency
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Mendelian susceptibility to mycobacterial disease\Susceptibility to infection due to TYK2 deficiency

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4696251016	Autosomal recessive hyper-IgE (immunoglobulin E) syndrome due to TYK2 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4696252011	Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4696253018	Susceptibility to infection due to TYK2 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4696254012	Susceptibility to infection due to tyrosine kinase 2 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
4696255013	A rare primary immunodeficiency with characteristics of increased susceptibility to intracellular bacterial and viral infection, with or without increased serum immunoglobulin E. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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