Myotonic Disorder

Preferred Label : Myotonic Disorder;

NCIt definition : An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy.;

Details

Origin ID

C84913;

UMLS CUI

C0553604;

Automatic exact mappings (from CISMeF team)
- Myotonic disorders [ICD-9 code]
Currated CISMeF NLP mapping
- 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 syndrome [ORDO Disease]
- myotonic disorder [Disease (Nov.)]
- myotonic disorders [MeSH Descriptor]
- myotonic disorders [MeSH concept]
DO Cross reference
- myotonic disease [DO Concept]
- myotonic dystrophy type 2 [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myotonic disorder (disorder) [SNOMED CT concept]
- Myotonic disorders [MedDRA LLT]
- Myotonic disorders [ICD-9 code]
- Myotonic disorders [ICD-10 Sub-category]
- Myotonic disorders [ICD-11 Category]
- Myotonic disorders [ICD-10 Sub-category (who)]
- Myotonic syndrome [ORDO Disease]
- Myotonic syndrome [TUV Concept]
- Myotonic syndrome [TUV Term]
- myotonic disease [DO Concept]
- myotonic disorder [Disease (Nov.)]
- myotonic disorders [MeSH concept]
- myotonic disorders [MeSH Descriptor]
- myotonic dystrophy type 2 [DO Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]

Keyword's position in hierarchy(ies) :

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