General Information of Disease (ID: DISXVF3R)

Disease Name Immunodeficiency due to a late component of complement deficiency
Synonyms
immunodeficiency due to C5 to C9 component complement deficiency; terminal complement pathway deficiency; immunodeficiency due to a C5 to C9 component complement deficiency; deficiency of complement of terminal pathway
Definition
A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection.
Disease Hierarchy
DISGN469: Complement deficiency
DISXVF3R: Immunodeficiency due to a late component of complement deficiency
Disease Identifiers
MONDO ID
MONDO_0015700
UMLS CUI
C0398765
MedGen ID
585067
Orphanet ID
169150
SNOMED CT ID
234608003