| 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. |
| | Id | 721876004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D84.8 | | Term | Overige gespecificeerde immunodeficiënties |
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| SNOMED CT to Orphanet simple map | 319547 |
| SNOMED CT to ICD-10 extended map | | Target | D84.8 | | Rule | TRUE | | Advice | ALWAYS D84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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