1279842008: Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial janus kinase 1 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Mendelian susceptibility to mycobacterial disease\Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Mendelian susceptibility to mycobacterial disease\Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5234080017	Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5234081018	Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial janus kinase 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5234084014	Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial janus kinase 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5234082013	A rare primary immunodeficiency characterised by recurrent atypical mycobacterial infections, accompanied by relatively minor viral infections on an immunological background of reduced induction of expression of interferon-regulated genes and dysregulated cytokine production, as revealed by laboratory studies. Global developmental delay and occurrence of non-haematopoietic malignancy at a young age have been reported in association.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5234083015	A rare primary immunodeficiency characterized by recurrent atypical mycobacterial infections, accompanied by relatively minor viral infections on an immunological background of reduced induction of expression of interferon-regulated genes and dysregulated cytokine production, as revealed by laboratory studies. Global developmental delay and occurrence of non-hematopoietic malignancy at a young age have been reported in association.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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