dystonia musculorum deformans type 1

Preferred Label : dystonia musculorum deformans type 1;

MeSH synonym : early onset torsion dystonia; torsion dystonia 1, autosomal dominant; dystonia musculorum deformans 1; Early-Onset torsion dystonia; dystonia 1, torsion, autosomal dominant; Dyt1; Early-Onset primary dystonia; oppenheim dystonia; oppenheim's dystonia; primary torsion dystonia; Early-Onset generalized torsion dystonia;

Details

Origin ID

C538005;

UMLS CUI

C3888090;

Currated CISMeF NLP mapping
- Autosomal Dominant Torsion Dystonia 1 [NCIt concept]
- Dystonia 1, torsion, autosomal dominant [OMIM Phenotype]
- Early Onset Primary Dystonia [NCIt concept]
MeSH term(s) associated for indexing
- dystonia musculorum deformans [MeSH Descriptor]
Record concept(s)
- Dystonia musculorum deformans type 1 [MeSH concept]
See also inter- (CISMeF)
- Idiopathic torsion dystonia (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Early Onset Primary Dystonia [NCIt concept]
- Early onset primary dystonia [MedDRA Preferred Term]
Validated automatic mappings to NTBT
- Early-onset generalized limb-onset dystonia [ORDO Disease]

Keyword's position in hierarchy(ies) :

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