| pyogene bacteriële infectie door deficiëntie van 'myeloid differentiation primary response 88' (aandoening) | | pyogene bacteriële infectie door MyD88-deficiëntie | | MyD88-deficiëntie
pyogene bacteriële infectie door deficiëntie van 'myeloid differentiation primary response 88'
| | Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 | | Pyogenic bacterial infection due to MyD88 deficiency
| | A primary immunodeficiency with characteristics of increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. Only 24 cases have been reported. The disease presents in childhood with recurrent, life-threatening, pyogenic bacterial infections. This predisposition to life-threatening infections seems transient and lasts during the first 10 years of life in the cases reported so far. Myeloid differentiation primary response 88 (MyD88) deficiency results from mutations in the MYD88 gene (3p22-3p21.3) which generally abolishes the cytokine responses of the blood cells. Transmission is autosomal recessive. |
| | Id | 718232007 | | 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 |
| Target | A49.9 | | Term | Bacteriële infectie, niet gespecificeerd |
|
| SNOMED CT to Orphanet simple map | 183713 |
| 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 |
| Target | A49.9 | | Rule | TRUE | | Advice | ALWAYS A49.9 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
