719814009: X-linked mendelian susceptibility to mycobacterial disease (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Mendelian susceptibility to mycobacterial disease\X-linked mendelian susceptibility to mycobacterial disease
• \Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked mendelian susceptibility to mycobacterial disease
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Mendelian susceptibility to mycobacterial disease\X-linked mendelian susceptibility to mycobacterial disease

Status: current, Defined. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3318005011	X-linked mendelian susceptibility to mycobacterial disease (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3318006012	X-linked mendelian susceptibility to mycobacterial disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3318007015	Describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. The clinical manifestation is mycobacterial infections occurring in males. Diagnosis is made by laboratory analysis. Low levels of IFN-gamma and IL-12 production by the patients' mononuclear cells upon phytohemagglutinin (PHA) are detected in those with an IKBKG mutation. In addition, an impaired IL-12 production by monocytes upon PHA stimulation by activated T cells is shown. Impaired NADPH activity is demonstrated in vitro in macrophages and B-cell lines in those with a CYBB mutation. A mutational analysis is necessary to identify the exact causative genes involved allowing for the implementation of a specific treatment plan.	en	Definition	Active	Case sensitive	SNOMED CT core
3777387017	Describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. The clinical manifestation is mycobacterial infections occurring in males. Diagnosis is made by laboratory analysis. Low levels of IFN-gamma and IL-12 production by the patients' mononuclear cells upon phytohaemagglutinin (PHA) are detected in those with an IKBKG mutation. In addition, an impaired IL-12 production by monocytes upon PHA stimulation by activated T cells is shown. Impaired NADPH activity is demonstrated in vitro in macrophages and B-cell lines in those with a CYBB mutation. A mutational analysis is necessary to identify the exact causative genes involved allowing for the implementation of a specific treatment plan.	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

Description inactivation indicator reference set

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