| mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige ISG15-deficiëntie (aandoening) | | mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige ISG15-deficiëntie | | 'Mendelian susceptibility to mycobacterial disease' door volledige deficiëntie van 'interferon stimulated gene 15'
MSMD door volledige ISG15-deficiëntie
| | Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency | | Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency
Mendelian susceptibility to mycobacterial disease due to complete ISG15 (interferon stimulated gene 15) deficiency
| | A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by Bacille Calmette-Guerin (BCG) infections. The prevalence is unknown. Caused by mutations in the ISG15 gene (1p36.33), which encodes an IFN-alpha/beta inducible, ubiquitin-like intracellular protein. These mutations impair ISG15 secretion by leukocytes, a molecule which plays an essential role as an IFN-gamma-inducing secreted molecule needed for optimal antimycobacterial immunity. Inherited in an autosomal recessive manner. |
| | Id | 723384004 | | 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 | 319563 |
| SNOMED CT to ICD-10 extended map | | Target | D84.8 | | Rule | TRUE | | Advice | ALWAYS D84.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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