725151007: Autosomal dominant 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 dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant 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 dominant 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
3439520014	Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3439521013	Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3439522018	Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial IFNgammaR2 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3439523011	A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and consequently to recurrent moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Caused by a heterozygous mutation in the IFNGR2 gene on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain 2. The 186delC mutation corresponds to the first mutation conferring an AD partial IFN-gammaR2 deficiency.	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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