716869006: Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 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 interleukin 12 receptor beta 1 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Mendelian susceptibility to mycobacterial disease\Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3304978011	Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3304979015	Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
4636384015	Mendelian susceptibility to mycobacterial disease due to complete IL12RB1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
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	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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