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mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige deficiëntie van interferon-gammareceptor 2 (aandoening)
mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige deficiëntie van interferon-gammareceptor 2
mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige IFNGR2-deficiëntie
'Mendelian susceptibility to mycobacterial disease' door volledige IFNGR2-deficiëntie
MSMD door volledige IFN-gamma-R2-deficiëntie
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency
Mendelian susceptibility to mycobacterial disease due to complete IFNgammaR2 deficiency
A genetic variant of Mendelian susceptibly to mycobacterial disease with characteristics of a complete deficiency in interferon gamma receptor 2, leading to an undetectable response to interferon gamma and consequently to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. The prevalence is unknown. Only ten children have been identified to date. This disease is caused by mutations in IFNGR2 on chromosome 21q22.1-22.2 which encodes the IFN-gamma receptor signal transducing chain, essential for IFN-gamma mediated immunity. Two clinically indistinguishable forms have been reportedly defined by the presence or absence of protein expression on the cell surface.
Id721876004
StatusPrimitive
Pathological processafwijkend immuunproces
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