725432008: Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3442859010	Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3442860017	Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3442861018	Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial IFNgammaR2 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3442862013	A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Only one patient has been reported with this variant to date. Caused by a homozygous mutation (R114C) in IFNGR2 on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain. This mutation leads to a residual cellular response to IFN-gamma in terms of IL12p40 production. Transmission is autosomal recessive.	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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