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716869006: Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304978011 Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304979015 Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636384015 Mendelian susceptibility to mycobacterial disease due to complete IL12RB1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5401430017 Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) 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
5401431018 Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) 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
3304978011 Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304978011 Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304979015 Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304979015 Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636384015 Mendelian susceptibility to mycobacterial disease due to complete IL12RB1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304980017 A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. Over 140 cases have been reported in the world. Disease onset usually occurs in patients before the age of 12 with the appearance of BCG disease, usually after receiving the vaccination. Over half of patients with this variant experience an additional infection with non-typhoidal Salmonella. Caused by mutations in the IL12RB1 gene (19p13.1) subunit that encodes for the IL-12R-beta1 chain. These mutations impair the IL-12/IL-23 pathway essential for production of IFN-beta and the resulting immunity against Salmonella and BCG infections. Inherited in an autosomal recessive manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401430017 Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) 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
5401431018 Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) 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
3426941001000115 Suszeptibilität für Mykobakteriosen durch kompletten IL12RB1-Defekt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6326251000241115 PMIM (prédisposition mendélienne aux infections mycobactériennes) due à un déficit complet en IL12RB1 (récepteur bêta 1 de l'interleukine 12) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6326261000241117 susceptibilité mendélienne à une maladie mycobactérienne due à un déficit complet en récepteur bêta 1 de l'interleukine 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6326251000241115 PMIM (prédisposition mendélienne aux infections mycobactériennes) due à un déficit complet en IL12RB1 (récepteur bêta 1 de l'interleukine 12) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6326261000241117 susceptibilité mendélienne à une maladie mycobactérienne due à un déficit complet en récepteur bêta 1 de l'interleukine 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3426941001000115 Suszeptibilität für Mykobakteriosen durch kompletten IL12RB1-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 receptor beta 1 deficiency (disorder) Due to Interleukin-12 deficiency false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) 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 receptor beta 1 deficiency (disorder) Is a Abnormal susceptibility to infections false Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) Interprets General clinical state (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) Associated with Chromosomal disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) 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 receptor beta 1 deficiency (disorder) 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 receptor beta 1 deficiency (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) 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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