complementcomponent-3-deficiëntie (aandoening)
Complement component 3 deficiency
C3 deficiency
A rare genetic primary immunodeficiency with characteristics of susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure. The disease is caused by homozygous or compound heterozygous mutation in the C3 gene on chromosome 19p13.
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermStoornissen in complementsysteem
SNOMED CT to Orphanet simple map280133
SNOMED CT to ICD-10 extended map
AdviceALWAYS D84.1
CorrelationSNOMED CT source code to target map code correlation not specified