721876004: Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Mendelian susceptibility to mycobacterial disease\Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Mendelian susceptibility to mycobacterial disease\Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3326412017	Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3326413010	Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3326414016	Mendelian susceptibility to mycobacterial disease due to complete IFNgammaR2 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4636390016	A genetic variant of mendelian susceptibly to mycobacterial disease with characteristics of a complete deficiency in interferon gamma receptor 2, leading to an undetectable response to interferon gamma and consequently to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. The prevalence is unknown. Only ten children have been identified to date. This disease is caused by mutations in IFNGR2 on chromosome 21q22.1-22.2 which encodes the IFN-gamma receptor signal transducing chain, essential for IFN-gamma mediated immunity. Two clinically indistinguishable forms have been reportedly defined by the presence or absence of protein expression on the cell surface.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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