Parkinsonism-Dystonia, infantile

Preferred Label : Parkinsonism-Dystonia, infantile;

MeSH note : associated with mutation in SLC6A3;

Origin ID

C567730;

UMLS CUI

C2751067;

Currated CISMeF NLP mapping
- Dopamine Transporter Deficiency Syndrome [NCIt concept]
- Infantile dystonia parkinsonism (disorder) [SNOMED CT concept]
- Infantile dystonia-parkinsonism [ORDO Disease]
- Parkinsonism-dystonia 1, infantile-onset [OMIM Phenotype]
- Parkinsonism-dystonia, infantile [OMIM phenotypic series]
- dopamine transporter deficiency syndrome [Disease (Nov.)]
MeSH term(s) associated for indexing
- dystonic disorders [MeSH Descriptor]
- parkinson disease [MeSH Descriptor]
Record concept(s)
- Parkinsonism-Dystonia, infantile [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dopamine Transporter Deficiency Syndrome [NCIt concept]
- Infantile dystonia parkinsonism (disorder) [SNOMED CT concept]
- Infantile dystonia-parkinsonism [ORDO Disease]
- Parkinsonism-dystonia 1, infantile-onset [OMIM Phenotype]
- dopamine transporter deficiency syndrome [Disease (Nov.)]