autosomaal recessieve ernstige gecombineerde immunodeficiëntie
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T-cel negatieve en B-cel positieve 'severe combined immundeficiency' door deficiëntie van janus kinase-3 (aandoening)
T-cel negatieve en B-cel positieve 'severe combined immundeficiency' door deficiëntie van janus kinase-3
SCID type JAK3
SCID met JAK3 mutatie
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.
Id718107000
StatusPrimitive
Pathological processafwijkend immuunproces
Due togenmutatie
Occurrencecongenitaal
Finding sitestructuur van lichaamssysteem
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetD81.2
RuleTRUE
AdviceALWAYS D81.2
CorrelationSNOMED CT source code to target map code correlation not specified