721877008: Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta 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 subunit beta deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta 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 subunit beta deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3323117012	Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323118019	Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3326418018	Mendelian susceptibility to mycobacterial disease due to complete IL12B deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3323119010	A genetic variant of Mendelian susceptibility to mycobacterial disease with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. The disease presents in early childhood. BCG is the most common infection encountered, usually after receiving the vaccination. Non-typhoidal Salmonella infections are also seen in half of all cases. Caused by homozygous mutations in the IL12B gene on chromosome 5q31.1-q33.1 which encodes for the IL-12p40 subunit. There are 9 different IL12B mutant alleles identified, including 2 small insertions, 3 small deletions, 2 splice site mutations, 1 large deletion and 1 nonsense mutation.	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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