Early Onset Primary Dystonia

Preferred Label : Early Onset Primary Dystonia;

NCIt synonyms : Early Onset Torsion Dystonia; Oppenheim's Dystonia;

NCIt definition : A genetic disorder that usually presents in early childhood and is characterized by muscle contractions in a foot, leg, or arm that gradually spreads to other body regions.;

NCI Metathesaurus CUI : CL480952;

Details

Origin ID

C116718;

UMLS CUI

C3888090;

Automatic exact mappings (from CISMeF team)
- Early onset torsion dystonia [ICD-11 More detail]
- Early-onset generalized limb-onset dystonia [ORDO Disease]
Currated CISMeF NLP mapping
- Dystonia 1, torsion, autosomal dominant [OMIM Phenotype]
- Early onset primary dystonia [MedDRA Preferred Term]
- dystonia musculorum deformans type 1 [MeSH Supplementary Concept]
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)
- Early onset primary dystonia [MedDRA Preferred Term]
- dystonia musculorum deformans type 1 [MeSH Supplementary Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Adverse Events Terminology [NCIt concept]
- Pediatric Adverse Events Terminology Mapped to MedDRA [NCIt concept]

Keyword's position in hierarchy(ies) :

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