Dystonia 12 - CISMeF

Preferred Label : Dystonia 12;

NCIt synonyms : DYT12; Rapid-Onset Dystonia-Parkinsonism;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the ATP1A3 gene, encoding sodium/potassium-transporting ATPase subunit alpha-3. It is characterized by abrupt onset of dystonia and parkinsonism in young adulthood, often triggered by physical or psychological stress.;

Détails

Origin ID

C157577;

UMLS CUI

C1868681;

Currated CISMeF NLP mapping
- Dystonia 12 [OMIM Phenotype]
- Dystonia 12 [MeSH concept]
- Rapid onset dystonia parkinsonism (disorder) [SNOMED CT concept]
- Rapid-onset dystonia-parkinsonism [ICD-11 More detail]
- Rapid-onset dystonia-parkinsonism [ORDO Disease]
- Rapid-onset dystonia-parkinsonism [MedDRA Preferred Term]
- dystonia 12 [MeSH Supplementary Concept]
- dystonia 12 [DO Concept]
- rapid onset dystonia parkinsonism [Disease (Nov.)]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystonia 12 [OMIM Phenotype]
- Dystonia 12 [MeSH concept]
- Rapid onset dystonia parkinsonism (disorder) [SNOMED CT concept]
- Rapid-onset dystonia-parkinsonism [ORDO Disease]
- Rapid-onset dystonia-parkinsonism [MedDRA Preferred Term]
- dystonia 12 [DO Concept]
- dystonia 12 [MeSH Supplementary Concept]
- rapid onset dystonia parkinsonism [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- ATP1A3 Gene [NCIt concept]

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

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