spinocerebellar ataxia, X-linked, 3

Preferred Label : spinocerebellar ataxia, X-linked, 3;

MeSH synonym : ataxia-deafness syndrome, X-linked; spinocerebellar ataxia, X-Linked 3; schmidley syndrome; ataxia-deafness syndrome X-linked;

Details

Origin ID

C537315;

UMLS CUI

C1844936;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia, X-linked 3 [OMIM Phenotype]
- X-linked spinocerebellar ataxia type 3 [ORDO Disease]
- X-linked spinocerebellar ataxia type 3 (disorder) [SNOMED CT concept]
DO Cross reference
- X-linked spinocerebellar ataxia 3 [DO Concept]
Has phenotype(s) (HPO)
- Death in early childhood [HPO term]
- Neuronal loss [HPO term]
- Weakness [HPO term]
MeSH term(s) associated for indexing
- genetic diseases, X-linked [MeSH Descriptor]
- machado-joseph disease [MeSH Descriptor]
ORDO relation(s)
- X-linked spinocerebellar ataxia type 3 [ORDO Disease]
Record concept(s)
- Spinocerebellar ataxia, X-linked, 3 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia, X-linked 3 [OMIM Phenotype]
- X-linked spinocerebellar ataxia type 3 [ORDO Disease]
- X-linked spinocerebellar ataxia type 3 (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients