Duchenne Muscular Dystrophy

Preferred Label : Duchenne Muscular Dystrophy;

NCIt related terms : Duchenne;

NCIt definition : An X-linked inherited disorder caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.;

Alternative definition : ACC/AHA: An X-linked genetic disorder caused by a mutation in the dystrophin gene characterized by early onset, rapidly progressive skeletal muscle weakness and atrophy initially involving the lower extremities that eventually affect the entire body including respiratory and cardiac muscles.;

Détails

Origin ID

C75482;

UMLS CUI

C0013264;

Automatic exact mappings (from CISMeF team)
- duchenne muscular dystrophy [EMDN type]
Currated CISMeF NLP mapping
- Becker muscular dystrophy [ICD-11 Subcategory]
- Duchenne muscular dystrophy [DO Concept]
- Duchenne muscular dystrophy [Disease (Nov.)]
- Duchenne muscular dystrophy [PASCAL descriptor]
- Duchenne muscular dystrophy [ICD-11 Subcategory]
- Duchenne muscular dystrophy [Artificial nutrition thesaurus concept]
- Duchenne muscular dystrophy [MedDRA Preferred Term]
- Duchenne muscular dystrophy [ORDO Disease]
- Duchenne muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy, duchenne type [OMIM Phenotype]
- duchenne muscular dystrophy [SNOMED Notion]
- muscular dystrophy [MedlinePlus Topic]
- muscular dystrophy, duchenne [MeSH Descriptor]
- muscular dystrophy, duchenne [MeSH concept]
DO Cross reference
- Duchenne muscular dystrophy [DO Concept]
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)
- Duchenne muscular dystrophy [ORDO Disease]
- Duchenne muscular dystrophy [PASCAL descriptor]
- Duchenne muscular dystrophy [DO Concept]
- Duchenne muscular dystrophy [Disease (Nov.)]
- Duchenne muscular dystrophy [MedDRA Preferred Term]
- Duchenne muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy, duchenne type [OMIM Phenotype]
- duchenne muscular dystrophy [SNOMED Notion]
- muscular dystrophy, duchenne [MeSH concept]
- muscular dystrophy, duchenne [MeSH Descriptor]
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]

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