Becker's Muscular Dystrophy

Preferred Label : Becker's Muscular Dystrophy;

NCIt related terms : Becker;

NCIt definition : An X-linked inherited disorder characterized by slowly progressing weakness in the muscles of the legs and pelvis.;

Alternative definition : ACC/AHA: An X-linked genetic disorder caused by a mutation in the dystrophin gene characterized by onset in late childhood or adults of slowly progressive skeletal muscle weakness and atrophy initially involving the lower extremities that may eventually affects the entire body including respiratory and cardiac muscles.;

Détails

Origin ID

C84587;

UMLS CUI

C0917713;

Automatic exact mappings (from CISMeF team)
- Distal muscular dystrophy (disorder) [SNOMED CT concept]
- Erb's muscular dystrophy (disorder) [SNOMED CT concept]
- Myotonia congenita, recessive [ICD-11 More detail]
- erb's muscular dystrophy [SNOMED Notion]
- gower's muscular dystrophy [SNOMED Notion]
Currated CISMeF NLP mapping
- Becker muscular dystrophy [PASCAL descriptor]
- Becker muscular dystrophy [DO Concept]
- Becker muscular dystrophy [Disease (Nov.)]
- Becker muscular dystrophy [ICD-11 Subcategory]
- Becker muscular dystrophy [ORDO Disease]
- Becker muscular dystrophy (disorder) [SNOMED CT concept]
- Becker's muscular dystrophy [MedDRA Preferred Term]
- Benign congenital myopathy (disorder) [SNOMED CT concept]
- Muscular dystrophy, becker type [OMIM Phenotype]
- becker muscular dystrophy [MeSH concept]
- congenital hereditary muscular dystrophy [SNOMED Notion]
- muscular dystrophy, duchenne [MeSH Descriptor]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
- Peripheral Nervous System [NCIt concept]
- Soft Tissue [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Becker muscular dystrophy [ORDO Disease]
- Becker muscular dystrophy [PASCAL descriptor]
- Becker muscular dystrophy [Disease (Nov.)]
- Becker muscular dystrophy (disorder) [SNOMED CT concept]
- Becker's muscular dystrophy [MedDRA Preferred Term]
- Muscular dystrophy, becker type [OMIM Phenotype]
- becker muscular dystrophy [MeSH concept]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Connective and Soft Tissue [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
- Peripheral Nervous System [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- DMD Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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