Autosomal dominant hereditary disorder
Mendelian susceptibility to mycobacterial disease
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Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder)
Mendelian susceptibility to mycobacterial disease due to partial IRF8 deficiency
Mendelian susceptibility to mycobacterial disease due to partial IRF8 (interferon regulatory factor 8) deficiency
Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG).
Id723385003
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