Muscular Dystrophy

Preferred Label : Muscular Dystrophy;

NCIt definition : A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy.;

Details

Origin ID

C84910;

UMLS CUI

C0026850;

Automatic exact mappings (from CISMeF team)
- Muscular dystrophy [ACR pathology]
- dystrophin [HGNC gene]
- neurological disease other [ICPC-2 Rubric]
Currated CISMeF NLP mapping
- MUSCULAR DYSTROPHY [WHO-ART Included Term]
- Muscular dystrophy [PASCAL descriptor]
- Muscular dystrophy [ICD-10 Sub-category]
- Muscular dystrophy [ICD-11 Category]
- Muscular dystrophy [HPMULTI term]
- Muscular dystrophy [ICD-10 Sub-category (who)]
- Muscular dystrophy [HPO term]
- Muscular dystrophy [MedDRA Preferred Term]
- Muscular dystrophy [ORDO Disease]
- Muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy NOS [MedDRA LLT]
- muscular dystrophies [MeSH Descriptor]
- muscular dystrophies [MeSH concept]
- muscular dystrophy [DO Concept]
- muscular dystrophy [Disease (Nov.)]
- muscular dystrophy [Artificial nutrition thesaurus concept]
- muscular dystrophy [MedlinePlus Topic]
- muscular dystrophy, nos [SNOMED Notion]
- muscular dystrophy, oculopharyngeal [MeSH concept]
DO Cross reference
- muscular dystrophy [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)
- Duchenne muscular dystrophy [ICD-11 Subcategory]
- Limb-girdle muscular dystrophy [ICD-11 Subcategory]
- MUSCULAR DYSTROPHY [WHO-ART Included Term]
- Muscular dystrophy [ORDO Disease]
- Muscular dystrophy [ICD-10 Sub-category]
- Muscular dystrophy [HPO term]
- Muscular dystrophy [PASCAL descriptor]
- Muscular dystrophy [ICD-10 Sub-category (who)]
- Muscular dystrophy [MedDRA Preferred Term]
- Muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy NOS [MedDRA LLT]
- Scapuloperoneal muscular dystrophy [ICD-11 Subcategory]
- hereditary progressive muscular dystrophy, nos [SNOMED Notion]
- muscular dystrophies [MeSH concept]
- muscular dystrophies [MeSH Descriptor]
- muscular dystrophy [DO Concept]
- muscular dystrophy [Disease (Nov.)]
- muscular dystrophy [MedlinePlus Topic]
- muscular dystrophy, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Hereditary progressive muscular dystrophy (disorder) [SNOMED CT concept]
- oculopharyngeal muscular dystrophy [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus 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]

Keyword's position in hierarchy(ies) :

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