dystonia musculorum deformans

Preferred Label : dystonia musculorum deformans;

MeSH definition : A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078);

MeSH synonym : dystonia deformans musculorum; dystonias, torsion; torsion disease of childhood; torsion spasm, progressive; childhood torsion disease; spasm, progressive torsion; oppenheim ziehen disease; progressive torsion spasm; oppenheim-ziehen disease; dystonia deformans progressiva; torsion dystonia; torsion disease, childhood;

CISMeF synonym : idiopathic torsion dystonia;

Related MeSH term : Dystonia, Idiopathic Torsion; Dystonias, Idiopathic Torsion; Idiopathic Torsion Dystonias; Torsion Dystonia, Idiopathic;

Wikipedia link : https://en.wikipedia.org/wiki/Dystonia musculorum deformans;

Details

Origin ID

D004422;

UMLS CUI

C0013423;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Familial Idiopathic Dystonia [NCIt concept]
- Genetic torsion dystonia [ICD-10 Sub-category]
- Idiopathic familial dystonia [ICD-10 Sub-category (who)]
- Idiopathic familial dystonia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Dystonia 1, torsion, autosomal dominant [OMIM Phenotype]
- Dystonia musculorum deformans [PASCAL descriptor]
- Early-onset generalized limb-onset dystonia [ORDO Disease]
- 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 [Disease (Nov.)]
- idiopathic torsion dystonia [SNOMED Notion]
- torsion dystonia 1 [DO Concept]
DO Cross reference
- generalized dystonia [DO Concept]
HPO term
- Torsion dystonia [HPO term]
Indexing information
- Dyt1 protein, mouse [MeSH Supplementary Concept]
- TOR1A protein, human [MeSH Supplementary Concept]
- Tor1a protein, rat [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Isolated dystonia [ORDO Disease]
Record concept(s)
- Idiopathic Torsion Dystonia [MeSH concept]
- dystonia musculorum deformans [MeSH concept]
Related MeSH Supplementary Concept(s)
- dystonia 15, myoclonic [MeSH Supplementary Concept]
- dystonia 6, torsion [MeSH Supplementary Concept]
- dystonia musculorum deformans 4 [MeSH Supplementary Concept]
- dystonia musculorum deformans type 1 [MeSH Supplementary Concept]
- dystonia musculorum deformans type 2 [MeSH Supplementary Concept]
- whispering dysphonia, hereditary [MeSH Supplementary Concept]
See also
- dystonia [MeSH Descriptor]
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 [ICD-9 code]
- Genetic torsion dystonia [ICD-10 Sub-category]
- 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 [Disease (Nov.)]
- idiopathic torsion dystonia [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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