autosomaal recessieve ernstige gecombineerde immunodeficiëntie
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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.
Id718107000
StatusPrimitive
Due togenmutatie
Occurrencecongenitaal
Finding sitestructuur van lichaamssysteem
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD81.2
Term'Severe combined immunodeficiency' [SCID] met lage of normale aantallen B-cellen
SNOMED CT to Orphanet simple map35078
SNOMED CT to ICD-10 extended map
TargetD81.2
RuleTRUE
AdviceALWAYS D81.2
CorrelationSNOMED CT source code to target map code correlation not specified