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mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige interferon-gamma-receptor-1-deficiëntie (aandoening)
mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige interferon-gamma-receptor-1-deficiëntie
MSMD door volledige IFN-gamma-R1-deficiëntie
'Mendelian susceptibility to mycobacterial disease' door volledige IFNGR1-deficiëntie
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency
Mendelian susceptibility to mycobacterial disease due to complete IFNgammaR1 deficiency
A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of a complete deficiency in interferon gamma receptor 1(IFN-gammaR1), leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin and other environmental mycobacteria. Infection is disseminated and can involve soft tissue, bone marrow, lungs, skin, bones and lymph nodes. Manifestations include fever, weight loss, hepatosplenomegaly, lymphadenopathies and lepromatous-like lesions. Caused by complete IFN-gammaR1 deficiency due to mutations in the IFNGR1 gene on chromosome 6q23-q24. Transmission is autosomal recessive.
Id718230004
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