Autosomal recessive dopa-responsive dystonia

Preferred Label : Autosomal recessive dopa-responsive dystonia;

ICD-11 definition : This is a recessively inherited movement disorder which usually manifests itself during early childhood. The characteristic clinical features are as in the parent category. It may be is due to a mutation in thetyrosine hydroxylase gene and has a more complex phenotype than GTP cyclohydrolase mutation. Oculogyric crises may occur.;

ICD-11 synonym : Autosomal recessive Segawa syndrome; Autosomal recessive DRD; Autosomal recessive DRD - [dopa-responsive dystonia]; dopa-responsive dystonia;

Details

Origin ID

1208668939;

UMLS CUI

C2673535;

Automatic exact mappings (from CISMeF team)
- Dopa-Responsive Dystonia [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal recessive dopa responsive dystonia (disorder) [SNOMED CT concept]
- Autosomal recessive dopa-responsive dystonia [ORDO Disease]
- Segawa syndrome, autosomal recessive [OMIM Phenotype]
- Segawa syndrome, autosomal recessive [MeSH concept]
- Tyrosine Hydroxylase Deficiency [NCIt concept]
- segawa syndrome, autosomal recessive [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive dopa responsive dystonia (disorder) [SNOMED CT concept]
- Autosomal recessive dopa-responsive dystonia [ORDO Disease]
- Segawa syndrome, autosomal recessive [OMIM Phenotype]
- Segawa syndrome, autosomal recessive [MeSH concept]
- Tyrosine Hydroxylase Deficiency [NCIt concept]
- segawa syndrome, autosomal recessive [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Dopa-responsive dystonia [ORDO Disease]

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