| gecombineerde immunodeficiëntie door partiële deficiëntie van 'recombination-activating gene 1' (aandoening) | | gecombineerde immunodeficiëntie door partiële RAG1-deficiëntie | | gecombineerde immunodeficiëntie met expansie van gamma-delta-T-cellen
gecombineerde immunodeficiëntie door partiële deficiëntie van 'recombination-activating gene 1'
| | Combined immunodeficiency due to partial RAG1 deficiency | | Combined immunodeficiency with expansion of gamma delta T cell
Combined immunodeficiency due to partial recombination-activating gene 1 deficiency
| | A form of combined T and B cell immunodeficiency with characteristics of severe and persistent cytomegalovirus infection and autoimmune cytopenia. Patients present before the age of one year with severe disseminated cytomegalovirus infection, which can manifest with fever and splenomegaly, and recurrent and severe co-infections including sepsis and pneumonitis. Caused by hypomorphic mutation in the RAG1 gene (11p13). This results in oligoclonal expansion of T cell receptor (TCR) gamma-delta T cells and TCR alpha-beta T cell lymphopenia. Transmission is autosomal recessive. |
| | Id | 725290000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D81.8 | | Term | Overige gespecificeerde gecombineerde immunodeficiënties |
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| SNOMED CT to Orphanet simple map | 231154 |
| SNOMED CT to ICD-10 extended map | | Target | D81.8 | | Rule | TRUE | | Advice | ALWAYS D81.8 | 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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