C1r/C1s Deficiency

Preferred Label : C1r/C1s Deficiency;

Alternative definition : NICHD: Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s 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

C119991;

UMLS CUI

C3150274;

Currated CISMeF NLP mapping
- Complement component C1r/C1s deficiency [ICD-11 More detail]
- Complement component c1r/c1s deficiency [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Complement component C1r/C1s deficiency [ICD-11 More detail]
- Complement component c1r/c1s deficiency [OMIM Phenotype]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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