T-cel negatieve en B-cel positieve 'severe combined immunodeficiency' door deficiëntie van janus kinase-3 (aandoening) | | T-cel negatieve en B-cel positieve 'severe combined immunodeficiency' door deficiëntie van janus kinase-3 | | SCID met JAK3 mutatie SCID type JAK3
| | T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency | | Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency
| | A form of severe combined immunodeficiency with severe and recurrent infections, associated with diarrhea and failure to thrive. The disease is characterized by a lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. Results from a defect in the JAK3 gene encoding an intracellular tyrosine kinase, the Janus activating kinase 3 required for cytokine-mediated signalling. Transmission is autosomal recessive. |
| Id | 718107000 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | D81.2 | Term | 'Severe combined immunodeficiency' [SCID] met lage of normale aantallen B-cellen |
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SNOMED CT to Orphanet simple map | 35078 |
SNOMED CT to ICD-10 extended map | Target | D81.2 | Rule | TRUE | Advice | ALWAYS D81.2 | 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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