Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Preferred Label : Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay;

NCIt synonyms : ARSACS; SPAX6; Spastic Ataxia 6;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SACS gene, encoding sacsin. It is characterized by early onset cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.;

Details

Origin ID

C154614;

UMLS CUI

C1849140;

Currated CISMeF NLP mapping
- ARSACS [MedDRA LLT]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [ORDO Disease]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [ICD-11 More detail]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [MedDRA LLT]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder) [SNOMED CT concept]
- Charlevoix-Saguenay spastic ataxia [DO Concept]
- Spastic ataxia Charlevoix-Saguenay type [MeSH concept]
- Spastic ataxia, charlevoix-saguenay type [OMIM Phenotype]
- autosomal recessive spastic ataxia of Charlevoix Saguenay [Disease (Nov.)]
- spastic ataxia Charlevoix-Saguenay type [MeSH Supplementary Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- sacsin molecular chaperone [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ARSACS [MedDRA LLT]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [ICD-11 More detail]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [ORDO Disease]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [MedDRA LLT]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder) [SNOMED CT concept]
- Charlevoix-Saguenay spastic ataxia [DO Concept]
- Spastic ataxia Charlevoix-Saguenay type [MeSH concept]
- Spastic ataxia, charlevoix-saguenay type [OMIM Phenotype]
- autosomal recessive spastic ataxia of Charlevoix Saguenay [Disease (Nov.)]
- spastic ataxia Charlevoix-Saguenay type [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SACS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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