myotonic dystrophy

Preferred Label : myotonic dystrophy;

MeSH definition : Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.;

MeSH synonym : dystrophy, myotonic; myotonia atrophica; myotonia dystrophica; dystrophies, myotonic; myotonic dystrophies; dystrophia myotonica; steinert's disease; steinert disease; Dystrophia Myotonica 1; Atrophica, Myotonia; Atrophicas, Myotonia; Myotonia Atrophicas; Disease, Steinert's; Steinerts Disease; Myotonic Dystrophy 1; Disease, Steinert; Steinert Myotonic Dystrophy; Dystrophy, Steinert Myotonic; Myotonic Dystrophy, Steinert; Dystrophia Myotonicas; Myotonica, Dystrophia; Myotonicas, Dystrophia; Dystrophica, Myotonia; Dystrophicas, Myotonia; Myotonia Dystrophicas;

Related MeSH term : Myotonic Dystrophy 2; myotonic dystrophy, congenital; Congenital Myotonic Dystrophy; Congenital Myotonic Dystrophies; Dystrophies, Congenital Myotonic; Dystrophy, Congenital Myotonic; Myotonic Dystrophies, Congenital; Ricker Syndrome; Syndrome, Ricker; PROMM (Proximal Myotonic Myopathy); PROMMs (Proximal Myotonic Myopathy); Proximal Myotonic Myopathy; Dystrophia Myotonica 2; Dystrophia Myotonica 2s; Myotonic Myopathy, Proximal; Myopathies, Proximal Myotonic; Myopathy, Proximal Myotonic; Myotonic Myopathies, Proximal; Proximal Myotonic Myopathies;

False MeSH synonym : steinert's disease; steinert disease;

MeSH annotation : do not confuse with MUSCULAR DYSTROPHIES;

Wikipedia link : https://en.wikipedia.org/wiki/Myotonic dystrophy;

Details

Origin ID

D009223;

UMLS CUI

C0027126;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [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)
- Congenital myotonic dystrophy [ICD-11 More detail]
- Congenital myotonic dystrophy (disorder) [SNOMED CT concept]
- DM1 protein kinase [ORDO Gene]
- DM1 protein kinase [HGNC gene]
- Dystrophia Myotonica 2 [NCIt concept]
- Myotonic disorders [ICD-10 Sub-category (who)]
- Myotonic dystrophy [ICD-11 Subcategory]
- Myotonic dystrophy [OMIM phenotypic series]
- Myotonic dystrophy 2 [OMIM Phenotype]
- Myotonic dystrophy type 1 [ICD-11 More detail]
- Myotonic dystrophy type 2 [ICD-11 More detail]
- Proximal myotonic myopathy [PASCAL descriptor]
- Proximal myotonic myopathy [ORDO Disease]
- Proximal myotonic myopathy (disorder) [SNOMED CT concept]
- myotonic dystrophy type 2 [DO Concept]
- neurological disease other [ICPC-2 Rubric]
Currated CISMeF NLP mapping
- Dystrophia Myotonica 1 [NCIt concept]
- Dystrophia myotonica [MedDRA LLT]
- Myotonic Dystrophy [NCIt concept]
- Myotonic dystrophy [PASCAL descriptor]
- Myotonic dystrophy [MedDRA Preferred Term]
- Myotonic dystrophy [ORDO Disease]
- Myotonic dystrophy (disorder) [SNOMED CT concept]
- Myotonic dystrophy 1 [OMIM Phenotype]
- Myotonic muscular dystrophy [ICD-9 code]
- Steinert disease [MedDRA LLT]
- Steinert myotonic dystrophy [ORDO Disease]
- Steinert myotonic dystrophy syndrome (disorder) [SNOMED CT concept]
- myotonic dystrophy [Disease (Nov.)]
- myotonic dystrophy type 1 [DO Concept]
- steinert myotonic dystrophy syndrome [SNOMED Notion]
DO Cross reference
- myotonic disease [DO Concept]
- myotonic dystrophy type 1 [DO Concept]
Indexing information
- CELF1 protein, human [MeSH Supplementary Concept]
- DMWD protein, human [MeSH Supplementary Concept]
- Dm9 protein, mouse [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease [ORDO Disease]
- Musculoskeletal disease with cataract [ORDO Disease]
- Myasthenic syndrome with eye involvement [ORDO Disease]
- Myotonic dystrophy type 3 [ORDO Disease]
- Myotonic syndrome [ORDO Disease]
- Pattern dystrophy [ORDO Disease]
- Progressive muscular dystrophy [ORDO Disease]
- Sucking/swallowing disorder associated with a neuromuscular disease [ORDO Disease]
- Tauopathy with a major tau at 60 kDa [ORDO Disease]
Ne pas confondre avec
- muscular dystrophies [MeSH Descriptor]
ORDO relation(s)
- Myotonic dystrophy [ORDO Disease]
Record concept(s)
- Myotonic Dystrophy 2 [MeSH concept]
- myotonic dystrophy [MeSH concept]
- myotonic dystrophy, congenital [MeSH concept]
See also
- DNA repeat expansion [MeSH Descriptor]
- Myotonin-Protein Kinase [MeSH Descriptor]
- trinucleotide repeat expansion [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystrophia myotonica [MedDRA LLT]
- Myotonic Dystrophy [NCIt concept]
- Myotonic dystrophy [MedDRA Preferred Term]
- Myotonic dystrophy [ORDO Disease]
- Myotonic dystrophy [PASCAL descriptor]
- Myotonic dystrophy (disorder) [SNOMED CT concept]
- Myotonic muscular dystrophy [ICD-9 code]
- Steinert disease [MedDRA LLT]
- Steinert myotonic dystrophy syndrome (disorder) [SNOMED CT concept]
- myotonic dystrophy [Disease (Nov.)]
- myotonic dystrophy type 1 [DO Concept]
- steinert myotonic dystrophy syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Congenital Myotonic Dystrophy [NCIt concept]
- Congenital myotonic dystrophy (disorder) [SNOMED CT concept]
- Proximal myotonic myopathy [ORDO Disease]
- myotonic dystrophy type 1 [Disease (Nov.)]
- myotonic dystrophy type 2 [Disease (Nov.)]

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