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ernstige gecombineerde immunodeficiëntie door CTPS1-deficiëntie (aandoening)
ernstige gecombineerde immunodeficiëntie door CTPS1-deficiëntie
'severe combined immunodeficiency' door CTPS1-deficiëntie
ernstige gecombineerde immuundeficiëntie door CTPS1-deficiëntie
SCID door CTPS1-deficiëntie
Severe combined immunodeficiency due to CTPS1 deficiency
Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency
A rare primary immunodeficiency disorder due to impaired capacity of activated T and B-cells to proliferate in response to antigen receptor-mediated activation. The disease has characteristics of early-onset severe persistent and/or recurrent viral infections due to Epstein-Barr virus and Varicella Zoster virus as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.
Id763623001
StatusPrimitive
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetD81.1
RuleTRUE
AdviceALWAYS D81.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified