C1q Deficiency

Preferred Label : C1q Deficiency;

Alternative definition : NICHD: Lack of production of functional C1q proteins, due to a genetic defect. Virtually 100% of patients with a C1q deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.;

Details

Origin ID

C119990;

UMLS CUI

C3150902;

Automatic exact mappings (from CISMeF team)
- Complement 1q deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- C1q deficiency [Disease (Nov.)]
- C1q deficiency 1 [OMIM Phenotype]
- Complement component C1q deficiency [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- C1q deficiency [Disease (Nov.)]
- C1q deficiency 1 [OMIM Phenotype]
- Complement component C1q deficiency [ICD-11 More detail]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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