721876004: Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \A rare immunodeficiency syndrome characterized by a narrow vulnerability to poorly virulent mycobacteria such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria and defined by severe recurrent infections, either disseminated or localized. The most serious variants develop in early childhood with first infections generally occurring around the age of 3. MSMD can be inherited in an autosomal dominant, autosomal recessive or X-linked manner.\Mendelian susceptibly to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mendelian susceptibly to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\A rare immunodeficiency syndrome characterized by a narrow vulnerability to poorly virulent mycobacteria such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria and defined by severe recurrent infections, either disseminated or localized. The most serious variants develop in early childhood with first infections generally occurring around the age of 3. MSMD can be inherited in an autosomal dominant, autosomal recessive or X-linked manner.\Mendelian susceptibly to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5402719018	Mendelian susceptibly to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402720012	Mendelian susceptibly to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterised by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326412017	Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326413010	Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326414016	Mendelian susceptibility to mycobacterial disease due to complete IFNgammaR2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6356631000241113	PMIM (prédisposition mendélienne aux infections mycobactériennes) due à un déficit complet en IFN-gamma-R2 (récepteur 1 de l'interféron gamma)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6356641000241115	susceptibilité mendélienne à une maladie mycobactérienne due à un déficit complet en récepteur 2 de l'interféron gamma	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3395621001000110	Suszeptibilität für Mykobakteriosen durch kompletten IFN-gamma-R2-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)

Back to Start