Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Preferred Label : Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome;

NCIt synonyms : CANVAS;

NCIt definition : A rare autosomal recessive condition caused by mutation(s) in the RFC1 gene, encoding replication factor C subunit 1. It is characterized by cerebellar dysfunction, bilateral vestibulopathy, and axonal neuropathy.;

Details

Origin ID

C202046;

UMLS CUI

C3281223;

Currated CISMeF NLP mapping
- CANVAS syndrome [MeSH Supplementary Concept]
- CANVAS syndrome [MeSH concept]
- CANVAS syndrome [MedDRA Preferred Term]
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [ORDO Disease]
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [MedDRA LLT]
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder) [SNOMED CT concept]
- Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome [OMIM Phenotype]
False automatic mappings
- Canvas [ICD-11 Extension code]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CANVAS syndrome [MeSH Supplementary Concept]
- CANVAS syndrome [MedDRA Preferred Term]
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [MedDRA LLT]
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder) [SNOMED CT concept]
- Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- RFC1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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