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mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige interleukine 12B-deficiëntie (aandoening)
mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige interleukine 12B-deficiëntie
MSMS door volledige IL12B-deficiëntie
'Mendelian susceptibility to mycobacterial disease' door volledige IL12B-deficiëntie
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency
Mendelian susceptibility to mycobacterial disease due to complete IL12B deficiency
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.
Id721877008
StatusPrimitive
Pathological processafwijkend immuunproces
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetD84.8
RuleTRUE
AdviceALWAYS D84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified