Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency (disorder) | | 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. | | T-cel negatieve en B-cel positieve 'severe combined immunodeficiency' door deficiƫntie van janus kinase-3 | | SCID type JAK3 SCID met JAK3 mutatie
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| Id | 718107000 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | D81.2 | Rule | TRUE | Advice | ALWAYS D81.2 | Correlation | SNOMED CT source code to target map code correlation not specified |
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