Autosomal recessive hereditary disorder
Mendelian susceptibility to mycobacterial disease
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Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder)
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency
Mendelian susceptibility to mycobacterial disease due to complete IFNgammaR1 deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Id718230004
StatusPrimitive
Pathological processAbnormal immune process
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD84.8
TermOverige gespecificeerde immunodeficiënties
SNOMED CT to ICD-10 extended map
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