autosomaal recessieve ernstige gecombineerde immunodeficiëntie
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ernstige gecombineerde immunodeficiëntie door deficiëntie van 'caspase recruitment domain-containing protein 11' (aandoening)
ernstige gecombineerde immunodeficiëntie door deficiëntie van 'caspase recruitment domain-containing protein 11'
'severe combined immunodeficiency' door CARD11-deficiëntie
ernstige gecombineerde immuundeficiëntie door CARD11-deficiëntie
SCID door CARD11-deficiëntie
Severe combined immunodeficiency due to CARD11 deficiency
Severe combined immunodeficiency due to CARD11 (caspase recruitment domain family member 11) deficiency
Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency
A rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. Caused by homozygous mutation in the CARD11 gene on chromosome 7p22.
Id771517009
StatusPrimitive
Finding sitestructuur van lichaamssysteem
Occurrencecongenitaal
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetD81.2
RuleTRUE
AdviceALWAYS D81.2
CorrelationSNOMED CT source code to target map code correlation not specified