| 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
| | 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). |
| | Id | 718230004 | | 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 | 99898 |
| 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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