723385003: Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Mendelian susceptibility to mycobacterial disease\Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder)
• \trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Mendelian susceptibility to mycobacterial disease\Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3424331011	Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424332016	Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424333014	Mendelian susceptibility to mycobacterial disease due to partial IRF8 (interferon regulatory factor 8) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3424334015	Mendelian susceptibility to mycobacterial disease due to partial IRF8 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3424335019	A rare genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG). The prevalence is unknown. The first infections occur after vaccination with BCG and before the age of 2. No other infectious diseases have been reported. Caused by heterozygous mutations in the IRF8 gene on chromosome 16q24.1 which encodes IRF8, a protein essential for the development of dendritic cells and the differentiation of macrophages and granulocytes. Mutations in the IRF8 gene impair IL-12 secretion by monocytes and dendritic cells. Inherited in an autosomal dominant manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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