C2 Deficiency - CISMeF

Preferred Label : C2 Deficiency;

NCIt definition : Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.;

Alternative definition : NICHD: Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop a systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.;

Details

Origin ID

C119992;

UMLS CUI

C3150275;

Automatic exact mappings (from CISMeF team)
- Complement 2 deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Complement component 2 deficiency [OMIM Phenotype]
- Complement component C2 deficiency [ICD-11 More detail]
- complement component 2 deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Complement component 2 deficiency [OMIM Phenotype]
- Complement component C2 deficiency [ICD-11 More detail]
- complement component 2 deficiency [DO Concept]
associated_with_malfunction_of_gene_product
- Complement C2 [NCIt concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]
disease_mapped_to_gene
- C2 Gene [NCIt concept]
related_to_genetic_biomarker
- C2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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