myotonia congenita

Preferred Label : myotonia congenita;

MeSH definition : Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.;

MeSH synonym : myotonia, generalized; generalized myotonia; generalized myotonias; myotonias, generalized; batten turner congenital myopathy; Batten-Turner congenital myopathy; congenital myotonia; myopathy, congenital;

CISMeF synonym : thomsen generalized myotonias;

Wikipedia automatic translation : Myotonia;

MeSH hyponym : becker generalized myotonia; Myotonia Levior; generalized myotonia of thomsen; Thomsen Generalized Myotonia; Thomsens Disease; Disease, Thomsens; Thomsen's Disease; Disease, Thomsen's; Myotonia Congenita, Autosomal Dominant; Thomsen Disease; Disease, Thomsen; Generalized Myotonia, Becker; Myotonia, Becker Generalized; Myotonia, Generalized, Becker; Myotonia Congenita, Autosomal Recessive; Becker Disease; Disease, Becker; Generalized Myotonia of Becker;

Wikipedia link : https://en.wikipedia.org/wiki/Myotonia;

Details

Origin ID

D009224;

UMLS CUI

C0027127;

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)
- Becker muscular dystrophy (disorder) [SNOMED CT concept]
- Myotonia congenita, autosomal recessive [OMIM Phenotype]
- Myotonia levior (disorder) [SNOMED CT concept]
- Myotonic disorders [ICD-10 Sub-category (who)]
- chloride voltage-gated channel 1 [HGNC gene]
- endomyocardial fibrosis [DO Concept]
- myotonia levior [SNOMED Notion]
Currated CISMeF NLP mapping
- Batten-turner congenital myopathy [OMIM Phenotype]
- Congenital myopathies [ICD-11 Category]
- Congenital myopathies [ICD-10 Sub-category]
- Congenital myopathies [ICD-10 Sub-category (who)]
- Congenital myopathy [ORDO Disease]
- Congenital myopathy [MedDRA Preferred Term]
- Congenital myopathy (disorder) [Inactive SNOMED CT concept]
- Congenital myotonia [ORDO Disease]
- Congenital myotonia, autosomal dominant form (disorder) [SNOMED CT concept]
- MYOTONIA CONGENITA [WHO-ART Preferred Term]
- Myotonia Congenita [NCIt concept]
- Myotonia congenita [ICD-11 Subcategory]
- Myotonia congenita [ICD-9 code]
- Myotonia congenita [MedDRA Preferred Term]
- Myotonia congenita (disorder) [SNOMED CT concept]
- Myotonia congenita, autosomal dominant [OMIM Phenotype]
- Myotonia congenital [MedDRA LLT]
- Thomsen and Becker disease [ORDO Disease]
- Thomsen's disease [MedDRA LLT]
- congenital myopathy [DO Concept]
- congenital myopathy, nos [SNOMED Notion]
- congenital myotonia, nos [SNOMED Notion]
- myotonia congenita [Disease (Nov.)]
- myotonia congenita [DO Concept]
DO Cross reference
- myotonia congenita [DO Concept]
Indexing information
- CLC-1 channel [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Muscular channelopathy [ORDO Disease]
- Myotonic syndrome [ORDO Disease]
- Neurological muscular channelopathy due to a genetic chloride channel defect [ORDO Disease]
- Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly [ORDO Disease]
MeSH Descriptor(s) used for indexing
- myotonia [MeSH Descriptor]
Record concept(s)
- Myotonia Levior [MeSH concept]
- becker generalized myotonia [MeSH concept]
- generalized myotonia of thomsen [MeSH concept]
- myotonia congenita [MeSH concept]
Related MeSH Supplementary Concept(s)
- brody myopathy [MeSH Supplementary Concept]
- myotonia with skeletal abnormalities and mental retardation [MeSH Supplementary Concept]
- native american myopathy [MeSH Supplementary Concept]
- potassium aggravated myotonia [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- myotonia [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Batten-turner congenital myopathy [OMIM Phenotype]
- Congenital myotonia [ORDO Disease]
- MYOTONIA CONGENITA [WHO-ART Preferred Term]
- Myotonia Congenita [NCIt concept]
- Myotonia congenita [MedDRA Preferred Term]
- Myotonia congenita [ICD-9 code]
- Myotonia congenital [MedDRA LLT]
- Thomsen and Becker disease [ORDO Disease]
- myotonia congenita [DO Concept]
Validated automatic mappings to BTNT
- Myotonia congenita, dominant [ICD-11 More detail]

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