Familial Cold Autoinflammatory Syndrome

Preferred Label : Familial Cold Autoinflammatory Syndrome;

NCIt synonyms : FCAS;

Alternative definition : NICHD: An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It is characterized by short episodes of fever, rash, and arthralgia after exposure to cold or rapid decrease in temperature.;

Details

Origin ID

C119053;

UMLS CUI

C0343068;

Automatic exact mappings (from CISMeF team)
- NLR family pyrin domain containing 3 [ORDO Gene]
- cryopyrin-associated periodic syndromes [MeSH Descriptor]
Currated CISMeF NLP mapping
- FCAS [MedDRA LLT]
- Familial cold autoinflammatory syndrome [MedDRA Preferred Term]
- Familial cold autoinflammatory syndrome [ICD-11 More detail]
- Familial cold autoinflammatory syndrome 1 [OMIM Phenotype]
- Familial cold urticaria [MedDRA LLT]
- Familial cold urticaria [ORDO Disease]
- Familial cold urticaria [PASCAL descriptor]
- Familial cold urticaria (disorder) [SNOMED CT concept]
- familial cold autoinflammatory syndrome [MeSH concept]
- familial cold autoinflammatory syndrome 1 [DO Concept]
- familial cold urticaria [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- FCAS [MedDRA LLT]
- Familial cold autoinflammatory syndrome [MedDRA Preferred Term]
- Familial cold autoinflammatory syndrome 1 [OMIM Phenotype]
- Familial cold urticaria [ORDO Disease]
- Familial cold urticaria [PASCAL descriptor]
- Familial cold urticaria [MedDRA LLT]
- Familial cold urticaria (disorder) [SNOMED CT concept]
- familial cold autoinflammatory syndrome [DO Concept]
- familial cold autoinflammatory syndrome [MeSH concept]
- familial cold autoinflammatory syndrome 1 [DO Concept]
- familial cold urticaria [Disease (Nov.)]
Validated automatic mappings to NTBT
- Familial cold autoinflammatory syndrome [OMIM phenotypic series]
- familial cold autoinflammatory syndrome [DO Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]
disease_mapped_to_gene
- NLRP3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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