autosomaal recessieve ernstige gecombineerde immunodeficiëntie
ernstige gecombineerde immunodeficiëntie met laag aantal T- en B-cellen
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ernstige gecombineerde immunodeficiëntie door CTPS1-deficiëntie (aandoening)
ernstige gecombineerde immunodeficiëntie door CTPS1-deficiëntie
SCID door CTPS1-deficiëntie
'severe combined immunodeficiency' door CTPS1-deficiëntie
ernstige gecombineerde immuundeficiëntie 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 characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.
Id763623001
StatusPrimitive
Finding sitestructuur van immuunsysteem
Occurrencecongenitaal
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD81.1
Term'Severe combined immunodeficiency' [SCID] met lage aantallen T- en B-cellen
SNOMED CT to Orphanet simple map420573
SNOMED CT to ICD-10 extended map
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