Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Preferred Label : Autosomal recessive spastic ataxia of Charlevoix-Saguenay;

ICD-11 definition : Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.;

Details

Origin ID

345074673;

UMLS CUI

C1849140;

Currated CISMeF NLP mapping
- ARSACS [MedDRA LLT]
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay [NCIt concept]
- 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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ARSACS [MedDRA LLT]
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay [NCIt concept]
- 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]

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