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mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige ISG15-deficiëntie (aandoening)
mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige ISG15-deficiëntie
'Mendelian susceptibility to mycobacterial disease' door volledige deficiëntie van 'interferon stimulated gene 15'
MSMD door volledige ISG15-deficiëntie
Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency
Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency
Mendelian susceptibility to mycobacterial disease due to complete ISG15 (interferon stimulated gene 15) deficiency
A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by Bacille Calmette-Guerin (BCG) infections. The prevalence is unknown. Caused by mutations in the ISG15 gene (1p36.33), which encodes an IFN-alpha/beta inducible, ubiquitin-like intracellular protein. These mutations impair ISG15 secretion by leukocytes, a molecule which plays an essential role as an IFN-gamma-inducing secreted molecule needed for optimal antimycobacterial immunity. Inherited in an autosomal recessive manner.
Id723384004
StatusPrimitive
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetD84.8
RuleTRUE
AdviceALWAYS D84.8
CorrelationSNOMED CT source code to target map code correlation not specified