Familial Mediterranean Fever

Preferred Label : Familial Mediterranean Fever;

NCIt related terms : FMF;

NCIt definition : A usually autosomal recessive inherited inflammatory disorder caused by mutations in the MEFV gene. It is characterized by recurrent painful inflammatory attacks in the abdomen, joints, and chest. The inflammatory attacks are associated with fever.;

Alternative definition : NICHD: An autoinflammatory disease caused by MEFV gene mutations resulting in enhanced IL-1 beta production. This results in attacks of fever, rash, peritoneal, pleural, or pericardial serositis, and/or synovial inflammation along with increased acute phase reactants. Complications may include vasculitis or amyloidosis.;

Details

Origin ID

C84707;

UMLS CUI

C0031069;

Automatic exact mappings (from CISMeF team)
- MEFV innate immuity regulator, pyrin [ORDO Gene]
- Non-neuropathic heredofamilial amyloidosis [ICD-10 Sub-category (who)]
- Non-neuropathic heredofamilial amyloidosis [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Familial Mediterranean fever [ICD-11 Subcategory]
- Familial Mediterranean fever [ICD-9 code]
- Familial Mediterranean fever [ORDO Disease]
- Familial Mediterranean fever (disorder) [SNOMED CT concept]
- Familial mediterranean fever [MedDRA Preferred Term]
- Familial mediterranean fever [OMIM Phenotype]
- Familial recurrent polyseritis [PASCAL descriptor]
- Hereditary periodic fever (disorder) [SNOMED CT concept]
- Periodic fever [MedDRA LLT]
- familial Mediterranean fever [DO Concept]
- familial mediterranean fever [Disease (Nov.)]
- familial mediterranean fever [MeSH Descriptor]
- familial mediterranean fever [MeSH concept]
- periodic disease [SNOMED Notion]
DO Cross reference
- familial Mediterranean fever [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Mediterranean fever [ICD-9 code]
- Familial Mediterranean fever (disorder) [SNOMED CT concept]
- Familial mediterranean fever [OMIM Phenotype]
- Familial mediterranean fever [MedDRA Preferred Term]
- Familial recurrent polyserositis [MedDRA LLT]
- familial Mediterranean fever [DO Concept]
- familial mediterranean fever [Disease (Nov.)]
- familial mediterranean fever [MeSH concept]
- familial mediterranean fever [MeSH Descriptor]
- periodic disease [SNOMED Notion]
Validated automatic mappings to BTNT
- Familial recurrent polyserositis [MedDRA LLT]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MEFV Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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