VEXAS Syndrome

Preferred Label : VEXAS Syndrome;

NCIt synonyms : Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic Syndrome;

NCIt definition : An X-linked inherited condition caused by somatic mutation(s) in the UBA1 gene, encoding ubiquitin-like modifier-activating enzyme 1. It is characterized by the adult onset of rheumatologic symptoms in males, including recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, arthralgias, facial chondritis and hematologic abnormalities.;

NCI Metathesaurus CUI : CL1659231;

Details

Origin ID

C181924;

UMLS CUI

C5435753;

Currated CISMeF NLP mapping
- VEXAS syndrome [MedDRA Preferred Term]
- VEXAS syndrome [ORDO Disease]
- VEXAS syndrome [DO Concept]
- VEXAS syndrome [MeSH Supplementary Concept]
- Vexas syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- VEXAS syndrome [MedDRA Preferred Term]
- VEXAS syndrome [MeSH Supplementary Concept]
- Vexas syndrome [OMIM Phenotype]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_mapped_to_gene
- UBA1 Gene [NCIt concept]
related_to_genetic_biomarker
- UBA1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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