| susceptibiliteit voor virale en mycobacteriële infecties (aandoening) | | susceptibiliteit voor virale en mycobacteriële infecties | | vatbaarheid voor virale en mycobacteriële infecties
gevoeligheid voor virale en mycobacteriële infecties
STAT1-deficiëntie
| | Susceptibility to viral and mycobacterial infection | | STAT1 deficiency
Signal transducer and activator of transcription 1 deficiency
| | A rare genetic primary immunodeficiency due to a defect in innate immunity disorder with characteristics of impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections. Caused by homozygous mutation in the STAT1 gene on chromosome 2q32. |
| | Id | 778045003 | | 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 | 391311 |
| 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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