autosomaal recessieve ernstige gecombineerde immunodeficiëntie
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ernstige gecombineerde immunodeficiëntie door deficiëntie van inhibitor van 'nuclear factor kappa B kinase subunit beta' (aandoening)
ernstige gecombineerde immunodeficiëntie door deficiëntie van inhibitor van 'nuclear factor kappa B kinase subunit beta'
ernstige gecombineerde immunodeficiëntie door IKBKB-deficiëntie
Severe combined immunodeficiency due to IKK2 deficiency
Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency
A rare genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present. There is evidence the disease is caused by homozygous mutation in the IKBKB gene on chromosome 8p11.
Id782751003
StatusPrimitive
Finding sitestructuur van lichaamssysteem
Occurrencecongenitaal
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 map397787
SNOMED CT to ICD-10 extended map
TargetD81.2
RuleTRUE
AdviceALWAYS D81.2
CorrelationSNOMED CT source code to target map code correlation not specified