myotonic disorders

Preferred Label : myotonic disorders;

MeSH definition : Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition.;

MeSH synonym : myopathies, myotonic; disorder, myotonic; disorders, myotonic; myotonic disorder; myopathy, myotonic; myotonic myopathies; myotonic myopathy;

CISMeF synonym : congenita, paramyotonia; disease, eulenburg; disease, eulenburg's; eulenburgs disease; fluctuans, myotonia; paramyotonia congenitas;

MeSH hyponym : paramyotonia congenita; myotonia fluctuans; paramyotonia congenita without cold paralysis; Paralysis Periodica Paramyotonia; Eulenburg's Disease; Eulenburg Disease; Paramyotonia Congenita of von Eulenberg; Von Eulenberg's Disease; Von Eulenberg Disease;

Details

Origin ID

D020967;

UMLS CUI

C0553604;

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)
- Congenital paramyotonia [PASCAL descriptor]
- Myotonia Fluctuans [NCIt concept]
- Myotonia fluctuans [ORDO Disease]
- Myotonia fluctuans (disorder) [SNOMED CT concept]
- Myotonia, potassium-aggravated [OMIM Phenotype]
- Myotonic disorders [ICD-9 code]
- Myotonic dystrophy type 2 [ICD-11 More detail]
- Paramyotonia Congenita [NCIt concept]
- Paramyotonia congenita [ICD-11 Subcategory]
- Paramyotonia congenita [OMIM Phenotype]
- Paramyotonia congenita (disorder) [SNOMED CT concept]
- Paramyotonia congenita of Von Eulenburg [ORDO Disease]
- paramyotonia congenita [SNOMED Notion]
- paramyotonia congenita of Von Eulenburg [DO Concept]
Currated CISMeF NLP mapping
- Myotonic Disorder [NCIt concept]
- Myotonic disorder (disorder) [SNOMED CT concept]
- Myotonic disorders [ICD-10 Sub-category]
- Myotonic disorders [ICD-11 Category]
- Myotonic disorders [ICD-10 Sub-category (who)]
- Myotonic disorders [MedDRA LLT]
- Myotonic dystrophy 2 [OMIM Phenotype]
- Myotonic syndrome [ORDO Disease]
- Proximal myotonic myopathy [PASCAL descriptor]
- Proximal myotonic myopathy [ORDO Disease]
- Proximal myotonic myopathy (disorder) [SNOMED CT concept]
- myotonic disorder [Disease (Nov.)]
DO Cross reference
- myotonic disease [DO Concept]
- myotonic dystrophy type 2 [DO Concept]
- paramyotonia congenita of Von Eulenburg [DO Concept]
Manual NTBT mappings (CISMeF)
- Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease [ORDO Disease]
- Tauopathy with a major tau at 60 kDa [ORDO Disease]
ORDO relation(s)
- Myotonic syndrome [ORDO Disease]
- Proximal myotonic myopathy [ORDO Disease]
Record concept(s)
- myotonia fluctuans [MeSH concept]
- myotonic disorders [MeSH concept]
- paramyotonia congenita [MeSH concept]
- paramyotonia congenita without cold paralysis [MeSH concept]
Related MeSH Supplementary Concept(s)
- myotonic myopathy with cylindrical spirals [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- myotonia [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myotonic Disorder [NCIt concept]
- Myotonic disorder (disorder) [SNOMED CT concept]
- Myotonic disorders [MedDRA LLT]
- Myotonic disorders [ICD-9 code]
- Myotonic disorders [ICD-10 Sub-category (who)]
- Myotonic disorders [ICD-10 Sub-category]
- Myotonic disorders [ICD-11 Category]
- Myotonic syndrome [ORDO Disease]
- Myotonic syndrome [TUV Concept]
- Myotonic syndrome [TUV Term]
- myotonic disease [DO Concept]
- myotonic disorder [Disease (Nov.)]
- myotonic dystrophy type 2 [DO Concept]
Validated automatic mappings to BTNT
- Dystrophia Myotonica 2 [NCIt concept]
- Myotonia fluctuans [ICD-11 More detail]
- Paramyotonia Congenita without Cold Paralysis [NCIt concept]
- myotonic dystrophy type 2 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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