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1172895006: Mendelian susceptibility to mycobacterial disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4636371012 MSMD - mendelian susceptibility to mycobacterial disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4636372017 Mendelian susceptibility to mycobacterial disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636373010 Mendelian susceptibility to mycobacterial disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636374016 Mendelian susceptibility to mycobacterial infection en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636375015 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4636389013 A rare immunodeficiency syndrome characterised 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 localised. 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

15 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mendelian susceptibility to mycobacterial disease Is a Hereditary disease true Inferred relationship Some
Mendelian susceptibility to mycobacterial disease Is a Primary immune deficiency disorder true Inferred relationship Some
Mendelian susceptibility to mycobacterial disease Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (disorder) Is a True Mendelian susceptibility to mycobacterial disease Inferred relationship Some
X-linked mendelian susceptibility to mycobacterial disease (disorder) Is a True Mendelian susceptibility to mycobacterial disease Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) Is a True Mendelian susceptibility to mycobacterial disease Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder) Is a True Mendelian susceptibility to mycobacterial disease Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder) Is a True Mendelian susceptibility to mycobacterial disease Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder) Is a True Mendelian susceptibility to mycobacterial disease Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) Is a True Mendelian susceptibility to mycobacterial disease Inferred relationship Some
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder) Is a True Mendelian susceptibility to mycobacterial disease Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) Is a True Mendelian susceptibility to mycobacterial disease Inferred relationship Some
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) Is a True Mendelian susceptibility to mycobacterial disease Inferred relationship Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) Is a True Mendelian susceptibility to mycobacterial disease Inferred relationship Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder) Is a True Mendelian susceptibility to mycobacterial disease Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) Is a True Mendelian susceptibility to mycobacterial disease Inferred relationship Some
Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder) Is a True Mendelian susceptibility to mycobacterial disease Inferred relationship Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency Is a True Mendelian susceptibility to mycobacterial disease Inferred relationship Some

This concept is not in any reference sets

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