Spinocerebellar ataxia type 28

Preferred Label : Spinocerebellar ataxia type 28;

ICD-11 definition : Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.;

Détails

Origin ID

2020736035;

UMLS CUI

C1853249;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia 28 [OMIM Phenotype]
- Spinocerebellar ataxia 28 [MeSH concept]
- Spinocerebellar ataxia type 28 [ORDO Disease]
- Spinocerebellar ataxia type 28 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 28 [MeSH Supplementary Concept]
- spinocerebellar ataxia 28 [Disease (Nov.)]
- spinocerebellar ataxia type 28 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 28 [OMIM Phenotype]
- Spinocerebellar ataxia 28 [MeSH concept]
- Spinocerebellar ataxia type 28 [ORDO Disease]
- Spinocerebellar ataxia type 28 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 28 [MeSH Supplementary Concept]
- spinocerebellar ataxia 28 [Disease (Nov.)]
- spinocerebellar ataxia type 28 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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