spastic ataxia Charlevoix-Saguenay type

Preferred Label : spastic ataxia Charlevoix-Saguenay type;

MeSH synonym : spastic ataxia of Charlevoix-Saguenay; autosomal recessive spastic ataxia of Charlevoix-Saguenay; Charlevoix-Saguenay spastic ataxia; spastic ataxia, Charlevoix-Saguenay type; ARSACS; SPAX6; Spastic ataxia 6, autosomal recessive;

Details

Origin ID

C536787;

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 [ICD-11 More detail]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [MedDRA LLT]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [ORDO Disease]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder) [SNOMED CT concept]
- Charlevoix-Saguenay spastic ataxia [DO Concept]
- Spastic ataxia, charlevoix-saguenay type [OMIM Phenotype]
- autosomal recessive spastic ataxia of Charlevoix Saguenay [Disease (Nov.)]
DO Cross reference
- Charlevoix-Saguenay spastic ataxia [DO Concept]
MeSH term(s) associated for indexing
- muscle spasticity [MeSH Descriptor]
- spinocerebellar ataxias [MeSH Descriptor]
ORDO relation(s)
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [ORDO Disease]
Record concept(s)
- Spastic ataxia Charlevoix-Saguenay type [MeSH 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 [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 [OMIM Phenotype]
- autosomal recessive spastic ataxia of Charlevoix Saguenay [Disease (Nov.)]

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