Spinocerebellar Ataxia Type 19/22

Preferred Label : Spinocerebellar Ataxia Type 19/22;

NCIt synonyms : SCA 19/22;

NCIt definition : An autosomal dominant form of spinocerebellar ataxia (SCA), caused by mutation(s) in the KCND3 gene, encoding potassium voltage-gated channel subfamily D member 3. SCA19 and SCA22 were initially described independently, but the molecular basis for both conditions is mutation(s) in the KCND3 gene.;

NCI Metathesaurus CUI : CL495137;

Details

Origin ID

C163756;

UMLS CUI

C5235656;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia type 19/22 [ORDO Disease]
- spinocerebellar ataxia type 19/22 [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- Spinocerebellar ataxia 19 [MeSH concept]
- Spinocerebellar ataxia 19 [OMIM Phenotype]
- Spinocerebellar ataxia type 19 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 19 [Disease (Nov.)]
- spinocerebellar ataxia 19 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- KCND3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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