Muckle-Wells Syndrome

Preferred Label : Muckle-Wells Syndrome;

NCIt synonyms : MWS;

Alternative definition : NICHD: An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It is characterized by recurrent episodes of urticaria and fever which develop in infancy. It may lead to sensorineural hearing loss and/or amyloidosis.;

Details

Origin ID

C119054;

UMLS CUI

C0268390;

Automatic exact mappings (from CISMeF team)
- Marden-walker syndrome [OMIM Phenotype]
- NLR family pyrin domain containing 3 [ORDO Gene]
- cryopyrin-associated periodic syndromes [MeSH Descriptor]
Currated CISMeF NLP mapping
- Familial amyloid nephropathy with urticaria AND deafness (disorder) [SNOMED CT concept]
- Muckle-Wells syndrome [MedDRA Preferred Term]
- Muckle-Wells syndrome [DO Concept]
- Muckle-Wells syndrome [ORDO Disease]
- Muckle-Wells syndrome [ICD-11 More detail]
- Muckle-Wells syndrome [PASCAL descriptor]
- Muckle-Wells syndrome [MeSH concept]
- Muckle-Wells syndrome [Disease (Nov.)]
- Muckle-wells syndrome [OMIM Phenotype]
- familial amyloid nephropathy with urticaria and deafness [SNOMED Notion]
DO Cross reference
- Muckle-Wells syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial amyloid nephropathy with urticaria AND deafness (disorder) [SNOMED CT concept]
- Muckle-Wells syndrome [ORDO Disease]
- Muckle-Wells syndrome [PASCAL descriptor]
- Muckle-Wells syndrome [DO Concept]
- Muckle-Wells syndrome [MeSH concept]
- Muckle-Wells syndrome [MedDRA Preferred Term]
- Muckle-Wells syndrome [Disease (Nov.)]
- Muckle-Wells syndrome [ICD-11 More detail]
- Muckle-wells syndrome [OMIM Phenotype]
- familial amyloid nephropathy with urticaria and deafness [SNOMED Notion]
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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