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.
Id782751003
StatusPrimitive
Finding sitestructuur van lichaamssysteem
Occurrencecongenitaal
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map397787
SNOMED CT to ICD-10 extended map
TargetD81.2
RuleTRUE
AdviceALWAYS D81.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified