Emery-Dreifuss Muscular Dystrophy

Preferred Label : Emery-Dreifuss Muscular Dystrophy;

NCIt synonyms : EDMD;

NCIt definition : An X-linked or autosomal dominant inherited muscular dystrophy. It is characterized by slowly progressive muscle weakness, atrial conduction defects, cardiomyopathy, and early contractures of the elbow, ankle and neck.;

Details

Origin ID

C84685;

UMLS CUI

C0410189;

Currated CISMeF NLP mapping
- Emery Dreifuss muscular dystrophy [Disease (Nov.)]
- Emery-Dreifuss muscular dystrophy [PASCAL descriptor]
- Emery-Dreifuss muscular dystrophy [DO Concept]
- Emery-Dreifuss muscular dystrophy [ICD-11 Subcategory]
- Emery-Dreifuss muscular dystrophy [MedDRA Preferred Term]
- Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Emery-Dreifuss muscular dystrophy (disorder) [SNOMED CT concept]
- Emery-dreifuss muscular dystrophy [OMIM phenotypic series]
- Scapuloperoneal muscular dystrophy (disorder) [SNOMED CT concept]
- muscular dystrophy, Emery-Dreifuss [MeSH concept]
- muscular dystrophy, emery-dreifuss [MeSH Descriptor]
DO Cross reference
- Emery-Dreifuss 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)
- Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Emery-Dreifuss muscular dystrophy [DO Concept]
- Emery-Dreifuss muscular dystrophy [MedDRA Preferred Term]
- Emery-Dreifuss muscular dystrophy (disorder) [SNOMED CT concept]
- muscular dystrophy, Emery-Dreifuss [MeSH concept]
- muscular dystrophy, emery-dreifuss [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus 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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