dystonia musculorum deformans type 2

Preferred Label : dystonia musculorum deformans type 2;

MeSH synonym : torsion dystonia 2; torsion dystonia 2, autosomal recessive type; dystonia, torsion, 2, autosomal recessive; dystonia musculorum deformans 2; dystonia 2, torsion, autosomal recessive;

Details

Origin ID

C538006;

UMLS CUI

C1857093;

Automatic exact mappings (from CISMeF team)
- Dystonia 2, torsion (autosomal recessive) [ORDO Gene]
- torsion dystonia 2 [DO Concept]
Currated CISMeF NLP mapping
- Autosomal Recessive Torsion Dystonia 2 [NCIt concept]
- Dystonia 2, torsion, autosomal recessive [OMIM Phenotype]
- Primary dystonia type 2 (disorder) [SNOMED CT concept]
- Primary dystonia, DYT2 type [ORDO Disease]
MeSH term(s) associated for indexing
- dystonia musculorum deformans [MeSH Descriptor]
Record concept(s)
- Dystonia musculorum deformans type 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Recessive Torsion Dystonia 2 [NCIt concept]
- Dystonia 2, torsion, autosomal recessive [OMIM Phenotype]
- Primary dystonia type 2 (disorder) [SNOMED CT concept]

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