autosomaal recessieve hereditaire aandoening
gecombineerde immunodeficiëntie
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Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency (disorder)
Combined immunodeficiency due to CARD11 deficiency
Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency
A rare non-severe combined 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 due to CARD11 deficiency. It presents with severe susceptibility to infections, including opportunistic infections.
Id1351892007
StatusPrimitive
Pathological processafwijkend immuunproces
SNOMED CT to ICD-10 extended map
TargetD81.8
RuleTRUE
AdviceALWAYS D81.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified