dystonia, dopa-responsive

Preferred Label : dystonia, dopa-responsive;

Définition CISMeF : Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.;

MeSH synonym : dystonia 5; dystonia, dopa-responsive, autosomal dominant; segawa syndrome, autosomal dominant; Dystonia-Parkinsonism with diurnal fluctuation; dopa-responsive dystonia, autosomal dominant; dystonia, progressive, with diurnal variation; Hereditary Progressive Dystonia with Marked Diurnal Fluctuation; Dopa-Responsive Dystonia;

Details

Origin ID

C538007;

UMLS CUI

C1851920;

Automatic exact mappings (from CISMeF team)
- GTP cyclohydrolase 1 [ORDO Gene]
- GTP cyclohydrolase 1 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant dopa-responsive dystonia [ORDO Disease]
- Diurnal dystonia (disorder) [SNOMED CT concept]
- Dopa-Responsive Dystonia [NCIt concept]
- Dopa-responsive dystonia [ICD-11 More detail]
- Dopa-responsive dystonia [MedDRA Preferred Term]
- Dopa-responsive dystonia [ORDO Disease]
- Dystonia, dopa-responsive [OMIM Phenotype]
- Segawa disease [PASCAL descriptor]
- Segawa syndrome [MedDRA LLT]
- dopamine responsive dystonia [Disease (Nov.)]
- dystonia 5 [DO Concept]
MeSH term(s) associated for indexing
- dystonic disorders [MeSH Descriptor]
ORDO relation(s)
- Dopa-responsive dystonia [ORDO Disease]
Record concept(s)
- Dystonia, Dopa-responsive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant dopa responsive dystonia (disorder) [SNOMED CT concept]
- Autosomal dominant dopa-responsive dystonia [ORDO Disease]
- Autosomal dominant dopa-responsive dystonia [ICD-11 More detail]
- Dopa-Responsive Dystonia [NCIt concept]
- Dopa-responsive dystonia [ORDO Disease]
- Dopa-responsive dystonia [ICD-11 More detail]
- Dopa-responsive dystonia [MedDRA Preferred Term]
- Dystonia, dopa-responsive [OMIM Phenotype]
Validated automatic mappings to BTNT
- Autosomal dominant dopa responsive dystonia (disorder) [SNOMED CT concept]
- Autosomal dominant dopa-responsive dystonia [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

Main resources

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