723384004: Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency
• \Genetic disease\Hereditary disease\Mendelian susceptibility to mycobacterial disease (disorder)\Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency
• \Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency
• \Disorder of immune function (disorder)\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency
• \Disorder of immune function (disorder)\Hereditary disorder of immune system\Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Mendelian susceptibility to mycobacterial disease (disorder)\Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency
• \Disorder of immune function (disorder)\Autoimmune disease\Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency
• \Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency
• \Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency
• \Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency

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
3424323018	Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424324012	Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424325013	Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3424326014	Mendelian susceptibility to mycobacterial disease due to complete ISG15 (interferon stimulated gene 15) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5403030018	Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403031019	Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterised by Bacille Calmette-Guérin (BCG) infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424323018	Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424324012	Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424325013	Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3424326014	Mendelian susceptibility to mycobacterial disease due to complete ISG15 (interferon stimulated gene 15) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3424329019	A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by Bacille Calmette-Guerin (BCG) infections. The prevalence is unknown. Caused by mutations in the ISG15 gene (1p36.33), which encodes an IFN-alpha/beta inducible, ubiquitin-like intracellular protein. These mutations impair ISG15 secretion by leukocytes, a molecule which plays an essential role as an IFN-gamma-inducing secreted molecule needed for optimal antimycobacterial immunity. Inherited in an autosomal recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424330012	A genetic variant of mendelian susceptibility to mycobacterial diseases characterised by Bacille Calmette-Guerin (BCG) infections. The prevalence is unknown. Caused by mutations in the ISG15 gene (1p36.33), which encodes an IFN-alpha/beta inducible, ubiquitin-like intracellular protein. These mutations impair ISG15 secretion by leucocytes, a molecule which plays an essential role as an IFN-gamma-inducing secreted molecule needed for optimal antimycobacterial immunity. Inherited in an autosomal recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403030018	Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403031019	Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterised by Bacille Calmette-Guérin (BCG) infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3420881001000116	Suszeptibilität für Mykobakteriosen durch kompletten ISG15-Defekt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3420881001000116	Suszeptibilität für Mykobakteriosen durch kompletten ISG15-Defekt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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