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723385003: Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder)


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
5403032014 Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403033016 Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterised by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424331011 Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424332016 Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424333014 Mendelian susceptibility to mycobacterial disease due to partial IRF8 (interferon regulatory factor 8) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3424334015 Mendelian susceptibility to mycobacterial disease due to partial IRF8 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
7609671000241118 susceptibilé mendélienne aux mycobactéries due à un déficit partiel en IRF 8 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3381831001000113 Suszeptibilität für Mykobakteriosen durch partiellen IRF8-Defekt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG). Due to Chromosomal disorder (disorder) false Inferred relationship Some 1
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG). Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG). Is a Immunodeficiency associated with chromosomal abnormality false Inferred relationship Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG). Has definitional manifestation Immune system finding false Inferred relationship Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG). Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 2
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG). 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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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