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721877008: mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige interleukine 12B-deficiëntie (aandoening)


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
6245971000146119 mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige interleukine 12B-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6245981000146117 mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige interleukine 12B-deficiëntie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6246001000146116 MSMS door volledige IL12B-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6566471000146118 'Mendelian susceptibility to mycobacterial disease' door volledige IL12B-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


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 (disorder) Due to Chromosomal disorder (disorder) false Inferred relationship Some 1
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder) Is a Immunodeficiency associated with chromosomal abnormality false Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder) Has definitional manifestation Immune system finding false Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 2
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder) Is a Mendelian susceptibility to mycobacterial disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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