Complement Deficiency

Preferred Label : Complement Deficiency;

NCIt definition : A broad classification for rare genetic disorders with mostly autosomal recessive patterns of inheritance. They are caused by the ineffective or decreased biosynthesis of complement components. Complement deficiencies may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If complement components are adequately synthesized, their rapid depletion may result in functional deficiencies. Clinical signs of inherited deficiencies present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Complement deficiencies decrease the effectiveness of the humoral immune response. Of all the complement deficiencies, C3 deficiency is associated with the poorest prognosis since it presents at an early age, when susceptibility to recurrent infection is great. Deficiencies of C3 and of the classical activating pathway components: C1, C4, C2 also predispose to immune complex disease.;

Alternative definition : NICHD: A genetic deficiency of any component of the complement system, which may be associated with various pathologic conditions depending on the protein and activation pathway involved.;

Details

Origin ID

C4691;

UMLS CUI

C0272242;

Automatic exact mappings (from CISMeF team)
- Anomalies of complement [HRDO Sign]
- Complement Deficiencies [MeSH concept]
- Defects in the complement system [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Complement deficiency [PASCAL descriptor]
- Complement deficiency [HPO term]
- Complement deficiency disease [MedDRA Preferred Term]
- Complement deficiency disease (disorder) [SNOMED CT concept]
- Defects in the complement system [ICD-10 Sub-category]
- Defects in the complement system [ICD-11 Subcategory]
- complement deficiency [Disease (Nov.)]
- complement deficiency [DO Concept]
- complement deficiency disease, nos [SNOMED Notion]
DO Cross reference
- complement deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Complement deficiency [HPO term]
- Complement deficiency [PASCAL descriptor]
- Complement deficiency disease [MedDRA Preferred Term]
- Complement deficiency disease (disorder) [SNOMED CT concept]
- Defects in the complement system [ICD-10 Sub-category]
- Defects in the complement system [ICD-11 Subcategory]
- complement deficiency [DO Concept]
- complement deficiency [Disease (Nov.)]
- complement deficiency disease, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Hereditary Complement Deficiency Diseases [MeSH Descriptor]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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