Cryopyrin-Associated Periodic Syndrome

Preferred Label : Cryopyrin-Associated Periodic Syndrome;

NCIt related terms : CAPS; Cryopyrinopathy;

NCIt definition : A group of autoinflammatory syndromes caused by mutations in the NLRP3 gene. Signs and symptoms include rash, fever, headache, joint pain, conjunctivitis, and weakness. The symptoms may exacerbate with exposure to cold weather.;

Alternative definition : NICHD: A family of autoinflammatory diseases caused by gain of function mutations in NLRP3, which encodes cryopyrin, resulting in inflammasome activation and enhanced IL-1 beta and IL-18 production. This results in clinical signs and symptoms of inflammation in the form of rash, fever, joint, neurologic and eye symptoms, with increased acute phase reactants.;

Détails

Origin ID

C84657;

UMLS CUI

C2316212;

Automatic exact mappings (from CISMeF team)
- Calcium-dependent activator protein for secretion [OMIM gene]
- Calcyphosine [OMIM gene]
Currated CISMeF NLP mapping
- Cryopyrin associated periodic syndrome [MedDRA Preferred Term]
- Cryopyrin associated periodic syndrome (disorder) [SNOMED CT concept]
- Cryopyrin-Associated periodic syndromes [MeSH concept]
- Cryopyrin-associated periodic syndrome [ORDO Disease]
- Cryopyrin-associated periodic syndromes [ICD-11 Subcategory]
- cryopyrin associated periodic syndrome [Disease (Nov.)]
- cryopyrin-associated periodic syndromes [MeSH Descriptor]
False automatic mappings
- Functional abdominal pain syndrome [ICD-11 Subcategory]
See also inter- (CISMeF)
- Catastrophic antiphospholipid syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Catastrophic antiphospholipid syndrome [ORDO Disease]
- Cryopyrin associated periodic syndrome [MedDRA Preferred Term]
- Cryopyrin associated periodic syndrome (disorder) [SNOMED CT concept]
- Cryopyrin-Associated periodic syndromes [MeSH concept]
- Cryopyrin-associated periodic syndrome [ORDO Disease]
- Cryopyrin-associated periodic syndromes [ICD-11 Subcategory]
- cryopyrin associated periodic syndrome [Disease (Nov.)]
- cryopyrin-associated periodic syndromes [MeSH Descriptor]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NLRP3 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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