Dopa-Responsive Dystonia

Preferred Label : Dopa-Responsive Dystonia;

NCIt synonyms : Segawa's Disease; DYT5 Dystonia; Dopa-Responsive Dystonia, Autosomal Dominant; Autosomal Dominant Dopa-Responsive Dystonia; Autosomal Dominant Segawa Syndrome;

NCIt definition : A genetic disorder in females that presents in early childhood and is responsive to dopamine. It is characterized by clubfeet and Parkinsonian symptoms that may progress from lower to upper extremities witha diurnal pattern, and involuntary muscle contractions and other uncontrolled movements in the lower limbs that worsen with excercise and improve with rest.;

Details

Origin ID

C116719;

UMLS CUI

C1851920;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive dopa-responsive dystonia [ICD-11 More detail]
- GTP cyclohydrolase 1 [ORDO Gene]
- GTP cyclohydrolase 1 [HGNC gene]
CISMeF manual mappings
- dopamine responsive dystonia [Disease (Nov.)]
Currated CISMeF NLP mapping
- Autosomal dominant dopa-responsive dystonia [ORDO Disease]
- Diurnal dystonia (disorder) [SNOMED CT concept]
- Dopa-responsive dystonia [ORDO Disease]
- Dopa-responsive dystonia [ICD-11 More detail]
- Dopa-responsive dystonia [MedDRA Preferred Term]
- Dystonia, Dopa-responsive [MeSH concept]
- Dystonia, dopa-responsive [OMIM Phenotype]
- Segawa disease [PASCAL descriptor]
- Segawa syndrome [MedDRA LLT]
- dystonia 5 [DO Concept]
- dystonia, dopa-responsive [MeSH Supplementary Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt 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 [ORDO Disease]
- Dopa-responsive dystonia [ICD-11 More detail]
- Dopa-responsive dystonia [MedDRA Preferred Term]
- Dystonia, Dopa-responsive [MeSH concept]
- Dystonia, dopa-responsive [OMIM Phenotype]
- dystonia, dopa-responsive [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Autosomal dominant dopa responsive dystonia (disorder) [SNOMED CT concept]
- Autosomal dominant dopa-responsive dystonia [ICD-11 More detail]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- GCH1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients