Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Preferred Label : Emery-Dreifuss Muscular Dystrophy 1, X-Linked;

NCIt synonyms : EDMD1;

NCIt definition : Emery-Dreifuss muscular dystrophy inherited in an X-linked recessive pattern and caused by mutations in the EMD gene, encoding emerin.;

Details

Origin ID

C168730;

UMLS CUI

C5243475;

Currated CISMeF NLP mapping
- Emery-Dreifuss muscular dystrophy, X-linked [ICD-11 More detail]
- Emery-dreifuss muscular dystrophy 1, X-linked [OMIM Phenotype]
- X-linked Emery-Dreifuss muscular dystrophy 1 [DO Concept]
- X-linked scapuloperoneal muscular dystrophy (disorder) [SNOMED CT 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 1, X-linked [OMIM Phenotype]
- X-Linked Emery-Dreifuss muscular dystrophy [MeSH concept]
- X-linked Emery-Dreifuss muscular dystrophy [ORDO Disease]
- X-linked scapuloperoneal muscular dystrophy (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- X-Linked Emery-Dreifuss Muscular Dystrophy [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]
disease_mapped_to_gene
- EMD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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