Facioscapulohumeral Muscular Dystrophy

Preferred Label : Facioscapulohumeral Muscular Dystrophy;

NCIt definition : An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.;

Details

Origin ID

C84704;

UMLS CUI

C0238288;

Automatic exact mappings (from CISMeF team)
- Facioscapulohumeral muscular dystrophy [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Facioscapulohumeral dystrophy [ORDO Disease]
- Facioscapulohumeral muscular dystrophy [ICD-11 Subcategory]
- Facioscapulohumeral muscular dystrophy [MedDRA Preferred Term]
- Facioscapulohumeral muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy, scapulohumeral [OMIM Phenotype]
- facioscapulohumeral muscular dystrophy [Disease (Nov.)]
- facioscapulohumeral muscular dystrophy [DO Concept]
- facioscapulohumeral muscular dystrophy [SNOMED Notion]
- muscular dystrophy, facioscapulohumeral [MeSH Descriptor]
- muscular dystrophy, facioscapulohumeral [MeSH concept]
DO Cross reference
- facioscapulohumeral 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)
- Facioscapulohumeral dystrophy [ORDO Disease]
- Facioscapulohumeral muscular dystrophy [MedDRA Preferred Term]
- Facioscapulohumeral muscular dystrophy (disorder) [SNOMED CT concept]
- facioscapulohumeral muscular dystrophy [DO Concept]
- facioscapulohumeral muscular dystrophy [SNOMED Notion]
- muscular dystrophy, facioscapulohumeral [MeSH Descriptor]
- muscular dystrophy, facioscapulohumeral [MeSH concept]
Validated automatic mappings to BTNT
- Facioscapulohumeral muscular dystrophy 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Muscular dystrophy [ICD-10 Sub-category (who)]
- Muscular dystrophy [ICD-10 Sub-category]
- muscular dystrophy [Disease (Nov.)]
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]

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