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721877008: Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder)

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
3323117012 Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323118019 Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326418018 Mendelian susceptibility to mycobacterial disease due to complete IL12B deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5402721011 Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402722016 Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD characterised by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323117012 Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323117012 Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323118019 Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323118019 Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326418018 Mendelian susceptibility to mycobacterial disease due to complete IL12B deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323119010 A genetic variant of Mendelian susceptibility to mycobacterial disease with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. The disease presents in early childhood. BCG is the most common infection encountered, usually after receiving the vaccination. Non-typhoidal Salmonella infections are also seen in half of all cases. Caused by homozygous mutations in the IL12B gene on chromosome 5q31.1-q33.1 which encodes for the IL-12p40 subunit. There are 9 different IL12B mutant alleles identified, including 2 small insertions, 3 small deletions, 2 splice site mutations, 1 large deletion and 1 nonsense mutation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402721011 Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402722016 Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD characterised by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448141001000118 Suszeptibilität für Mykobakteriosen durch kompletten IL12B-Defekt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6386641000241110 PMIM (prédisposition mendélienne aux infections mycobactériennes) due à un déficit complet en IL12RB (sous-unité bêta de l'interleukine 12) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6386651000241113 susceptibilité mendélienne à une maladie mycobactérienne due à un déficit complet de la sous-unité bêta de l'interleukine 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6386641000241110 PMIM (prédisposition mendélienne aux infections mycobactériennes) due à un déficit complet en IL12RB (sous-unité bêta de l'interleukine 12) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6386651000241113 susceptibilité mendélienne à une maladie mycobactérienne due à un déficit complet de la sous-unité bêta de l'interleukine 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3448141001000118 Suszeptibilität für Mykobakteriosen durch kompletten IL12B-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 disease due to complete interleukin 12 subunit beta deficiency Due to Chromosomal disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency Is a Immunodeficiency associated with chromosomal abnormality false Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency Is a Mendelian susceptibility to mycobacterial disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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