Myotonic Dystrophy

Preferred Label : Myotonic Dystrophy;

NCIt definition : An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.;

Alternative definition : ACC/AHA: An inherited progressive disorder affecting the muscles.;

Details

Origin ID

C84914;

UMLS CUI

C0027126;

Currated CISMeF NLP mapping
- Dystrophia myotonica [MedDRA LLT]
- Myotonic dystrophy [PASCAL descriptor]
- Myotonic dystrophy [MedDRA Preferred Term]
- Myotonic dystrophy [ORDO Disease]
- Myotonic dystrophy (disorder) [SNOMED CT concept]
- 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 [MeSH Descriptor]
- myotonic dystrophy [MeSH concept]
- steinert myotonic dystrophy syndrome [SNOMED Notion]
DO Cross reference
- myotonic dystrophy type 1 [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystrophia myotonica [MedDRA LLT]
- 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 [MeSH Descriptor]
- myotonic dystrophy [MeSH 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 (disorder) [SNOMED CT concept]
- myotonic dystrophy, congenital [MeSH concept]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- 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]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]

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