infantile onset spinocerebellar ataxia

Preferred Label : infantile onset spinocerebellar ataxia;

MeSH note : mutation in C10ORF2;

MeSH synonym : spinocerebellar ataxia infantile with sensory neuropathy; ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis; spinocerebellar ataxia, infantile, with sensory neuropathy; Infantile-Onset spinocerebellar ataxia; OHAHA syndrome;

Details

Origin ID

C535523;

UMLS CUI

C1849096;

Automatic exact mappings (from CISMeF team)
- Proximal spinal muscular atrophy type 1 [ORDO Disease]
Currated CISMeF NLP mapping
- Infantile onset spinocerebellar ataxia [ICD-11 More detail]
- Infantile onset spinocerebellar ataxia (disorder) [SNOMED CT concept]
- Infantile-onset spinocerebellar ataxia [ORDO Disease]
- Mitochondrial dna depletion syndrome 7 (hepatocerebral type) [OMIM Phenotype]
- infantile onset spinocerebellar ataxia [DO Concept]
- infantile onset spinocerebellar ataxia [Disease (Nov.)]
- mitochondrial DNA depletion syndrome 7 [DO Concept]
DO Cross reference
- mitochondrial DNA depletion syndrome 7 [DO Concept]
MeSH term(s) associated for indexing
- spinocerebellar degenerations [MeSH Descriptor]
ORDO relation(s)
- Infantile-onset spinocerebellar ataxia [ORDO Disease]
Record concept(s)
- Infantile onset spinocerebellar ataxia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile onset spinocerebellar ataxia [ICD-11 More detail]
- Infantile onset spinocerebellar ataxia (disorder) [SNOMED CT concept]
- Infantile-onset spinocerebellar ataxia [ORDO Disease]
- Mitochondrial dna depletion syndrome 7 (hepatocerebral type) [OMIM Phenotype]
- infantile onset spinocerebellar ataxia [DO Concept]
- infantile onset spinocerebellar ataxia [Disease (Nov.)]
- mitochondrial DNA depletion syndrome 7 [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients