716869006: Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \A rare immunodeficiency syndrome characterized by a narrow vulnerability to poorly virulent mycobacteria such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria and defined by severe recurrent infections, either disseminated or localized. The most serious variants develop in early childhood with first infections generally occurring around the age of 3. MSMD can be inherited in an autosomal dominant, autosomal recessive or X-linked manner.\Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\A rare immunodeficiency syndrome characterized by a narrow vulnerability to poorly virulent mycobacteria such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria and defined by severe recurrent infections, either disseminated or localized. The most serious variants develop in early childhood with first infections generally occurring around the age of 3. MSMD can be inherited in an autosomal dominant, autosomal recessive or X-linked manner.\Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3304980017	A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. Over 140 cases have been reported in the world. Disease onset usually occurs in patients before the age of 12 with the appearance of BCG disease, usually after receiving the vaccination. Over half of patients with this variant experience an additional infection with non-typhoidal Salmonella. Caused by mutations in the IL12RB1 gene (19p13.1) subunit that encodes for the IL-12R-beta1 chain. These mutations impair the IL-12/IL-23 pathway essential for production of IFN-beta and the resulting immunity against Salmonella and BCG infections. Inherited in an autosomal recessive manner.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401430017	Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401431018	Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD characterised by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304978011	Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304979015	Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636384015	Mendelian susceptibility to mycobacterial disease due to complete IL12RB1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

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