General Information of Disease (ID: DISW08D4)

Disease Name Classic complement early component deficiency
Synonyms genetic deficiency of early component of the classical complement pathway
Definition
A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response.
Disease Hierarchy
DISGN469: Complement deficiency
DISW08D4: Classic complement early component deficiency
Disease Identifiers
MONDO ID
MONDO_0000015
UMLS CUI
C1285186
MedGen ID
226929
SNOMED CT ID
363009005