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 diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.
\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 susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.
\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.
\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.

\Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.
\Disorder of immune function (disorder)\Hereditary disorder of immune system\Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.
\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 susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.
\Disorder of immune function (disorder)\Autoimmune disease\Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.

\Disorder of body system\Disorder of immune structure (disorder)\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.
\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.
\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.

\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.

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

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

7609651000241111 susceptibilé mendélienne aux mycobactéries due à un déficit complet en ISG15 fr Synonym (core metadata concept) Active Only initial character case insensitive (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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	Due to	Chromosomal disorder (disorder)	false	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	Is a	Immunodeficiency associated with chromosomal abnormality	false	Inferred relationship	Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	2
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	Is a	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.	true	Inferred relationship	Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	Is a	Type I interferonopathy	true	Inferred relationship	Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	Is a	Autoimmune disease	true	Inferred relationship	Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	1
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Some	1

Inbound Relationships

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Active

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Characteristic

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Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
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
7609651000241111	susceptibilé mendélienne aux mycobactéries due à un déficit complet en ISG15	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (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