Genetic torsion dystonia

Preferred Label : Genetic torsion dystonia;

Inclusion CIM-10 : Dystonia musculorum deformans; Idiopathic familial dystonia; Familial torsion dystonia; Dystonia deformans progressiva; (Schwalbe-) Ziehen-Oppenheim disease; Idiopathic (torsion) dystonia NOS;

Diag associé à un acte (%) : 64.9;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

G241;

UMLS CUI

C5779546;

Automatic exact mappings (from CISMeF team)
- Dystonia musculorum deformans [PASCAL descriptor]
- Early-onset generalized limb-onset dystonia [ORDO Disease]
- Idiopathic torsion dystonia (disorder) [SNOMED CT concept]
- Torsion dystonia [HPO term]
- dystonia musculorum deformans [MeSH Descriptor]
- dystonic disorders [MeSH Descriptor]
- torsion dystonia 1 [DO Concept]
Currated CISMeF NLP mapping
- Familial Idiopathic Dystonia [NCIt concept]
- Idiopathic familial dystonia [ICD-10 Sub-category (who)]
- Idiopathic familial dystonia (disorder) [SNOMED CT concept]
- familial dystonia, idiopathic [MeSH concept]
DO Cross reference
- X-linked dystonia-parkinsonism [DO Concept]
- dystonia 12 [DO Concept]
- dystonia 16 [DO Concept]
- dystonia 21 [DO Concept]
- dystonia 25 [DO Concept]
- dystonia 27 [DO Concept]
- dystonia 5 [DO Concept]
- generalized dystonia [DO Concept]
- myoclonic dystonia 11 [DO Concept]
- torsion dystonia 1 [DO Concept]
- torsion dystonia 13 [DO Concept]
- torsion dystonia 17 [DO Concept]
- torsion dystonia 2 [DO Concept]
- torsion dystonia 4 [DO Concept]
- torsion dystonia 6 [DO Concept]
- torsion dystonia with onset in infancy [DO Concept]
Orphanet concepts
- Adult-onset dystonia-parkinsonism [ORDO Disease]
- Autosomal dominant dopa-responsive dystonia [ORDO Disease]
- Autosomal dominant focal dystonia, DYT25 type [ORDO Disease]
- Autosomal dominant focal dystonia, DYT7 type [ORDO Disease]
- Autosomal recessive dopa-responsive dystonia [ORDO Disease]
- Combined dystonia [ORDO Disease]
- Dopa-responsive dystonia due to sepiapterin reductase deficiency [ORDO Disease]
- Dystonia 16 [ORDO Disease]
- Early-onset generalized limb-onset dystonia [ORDO Disease]
- Generalized isolated dystonia [ORDO Disease]
- Isolated dystonia [ORDO Disease]
- Mixed dystonia [ORDO Disease]
- Myoclonic dystonia 15 [ORDO Disease]
- Myoclonus-dystonia syndrome [ORDO Disease]
- Persistent combined dystonia [ORDO Disease]
- Primary dystonia, DYT13 type [ORDO Disease]
- Primary dystonia, DYT17 type [ORDO Disease]
- Primary dystonia, DYT2 type [ORDO Disease]
- Primary dystonia, DYT21 type [ORDO Disease]
- Primary dystonia, DYT27 type [ORDO Disease]
- Primary dystonia, DYT4 type [ORDO Disease]
- Primary dystonia, DYT6 type [ORDO Disease]
- Rapid-onset dystonia-parkinsonism [ORDO Disease]
- X-linked dystonia-parkinsonism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystonia musculorum deformans [PASCAL descriptor]
- Early-onset generalized limb-onset dystonia [ORDO Disease]
- Genetic Torsion Dystonia [NCIt concept]
- Genetic torsion dystonia [ICD-9 code]
- Idiopathic Torsion Dystonia [NCIt concept]
- Idiopathic torsion dystonia [MedDRA LLT]
- Idiopathic torsion dystonia (disorder) [SNOMED CT concept]
- Torsion dystonia [HPO term]
- Torsion dystonia (disorder) [SNOMED CT concept]
- dystonia musculorum deformans [MeSH Descriptor]
- dystonia musculorum deformans [MeSH concept]
- dystonia musculorum deformans [Disease (Nov.)]
- idiopathic torsion dystonia [SNOMED Notion]
Validated automatic mappings to BTNT
- dystonia 12 [DO Concept]

Keyword's position in hierarchy(ies) :

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