dystonia 16 - CISMeF

Preferred Label : dystonia 16;

Définition CISMeF : Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.;

MeSH note : mutation in PRKRA;

MeSH synonym : DYT16;

Details

Origin ID

C567430;

UMLS CUI

C2677567;

Currated CISMeF NLP mapping
- Dystonia 16 [NCIt concept]
- Dystonia 16 [OMIM Phenotype]
- Dystonia 16 [ORDO Disease]
- Dystonia 16 (disorder) [SNOMED CT concept]
- dystonia 16 [DO Concept]
MeSH term(s) associated for indexing
- dystonic disorders [MeSH Descriptor]
Record concept(s)
- dystonia 16 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystonia 16 [OMIM Phenotype]
- Dystonia 16 [ORDO Disease]
- Dystonia 16 [NCIt concept]
- Dystonia 16 (disorder) [SNOMED CT concept]
- dystonia 16 [DO Concept]

Keyword's position in hierarchy(ies) :

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