Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome

Preferred Label : Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome;

NCIt synonyms : TNF Receptor 1-Associated Periodic Syndrome;

NCIt related terms : Familial Hibernian Fever; TRAPS;

Alternative definition : NICHD: An autoinflammatory disease caused by mutations in the TNFRSF1A gene coding for tumor necrosis factor receptor 1 (TNFR1). 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 amyloidosis.;

Details

Origin ID

C119051;

UMLS CUI

C3889136;

Automatic exact mappings (from CISMeF team)
- Cd40 ligand [OMIM gene]
- Phosphatase, acid, type 5, tartrate-resistant [OMIM gene]
- SCY1 like pseudokinase 1 [ORDO Gene]
- Tnf receptor-associated factor 2 [OMIM gene]
- Trapped [LOINC component]
- Tudor domain-containing protein 7 [OMIM gene]
- trapping [IUPAC Term]
Currated CISMeF NLP mapping
- Periodic fever, familial, autosomal dominant [OMIM Phenotype]
- Periodic fever, familial, autosomal dominant [MeSH concept]
- TNF receptor associated periodic syndrome [Disease (Nov.)]
- Tumor necrosis factor receptor 1 associated periodic syndrome [ORDO Disease]
- Tumor necrosis factor receptor-associated periodic fever syndrome (disorder) [SNOMED CT concept]
- Tumour necrosis factor receptor 1 associated periodic syndrome [ICD-11 Subcategory]
- Tumour necrosis factor receptor-associated periodic syndrome [MedDRA Preferred Term]
- autosomal dominant familial periodic fever [DO Concept]
- periodic fever, familial, autosomal dominant [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]
disease_mapped_to_gene
- TNFRSF1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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