| mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige deficiëntie van interleukine 12-receptor-bèta 1 (aandoening) | | mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige deficiëntie van interleukine 12-receptor-bèta 1 | | 'Mendelian susceptibility to mycobacterial disease' door volledige IL12RB1-deficiëntie
MSMD door volledige IL12RB1-deficiëntie
| | Mendelian susceptibility to mycobacterial disease due to complete IL12RB1 deficiency | | Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency
| | A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. Over 140 cases have been reported in the world. Disease onset usually occurs in patients before the age of 12 with the appearance of BCG disease, usually after receiving the vaccination. Over half of patients with this variant experience an additional infection with non-typhoidal Salmonella. Caused by mutations in the IL12RB1 gene (19p13.1) subunit that encodes for the IL-12R-beta1 chain. These mutations impair the IL-12/IL-23 pathway essential for production of IFN-beta and the resulting immunity against Salmonella and BCG infections. Inherited in an autosomal recessive manner. |
| | Id | 716869006 | | 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 | 319552 |
| 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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