muscular dystrophy, facioscapulohumeral

Preferred Label : muscular dystrophy, facioscapulohumeral;

MeSH definition : An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420);

MeSH synonym : landouzy-dejerine dystrophy; facioscapulohumeral atrophies; landouzy dejerine dystrophy; atrophy, facioscapulohumeral; landouzy-dejerine dystrophies; facioscapulohumeral muscular dystrophy; dystrophy, landouzy-dejerine; facioscapulohumeral type progressive muscular dystrophy; dystrophies, landouzy-dejerine; dystrophies, facioscapulohumeral muscular; dystrophy, facioscapulohumeral muscular; facioscapulohumeral muscular dystrophies; muscular dystrophies, facioscapulohumeral; progressive muscular dystrophy, facioscapulohumeral type; facioscapulohumeral atrophy; atrophies, facioscapulohumeral; FSH muscular dystrophy; muscular dystrophy, landouzy dejerine; Facio-Scapulo-Humeral dystrophy; facioscapuloperoneal muscular dystrophy;

Details

Origin ID

D020391;

UMLS CUI

C0238288;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Facioscapulohumeral Muscular Dystrophy [NCIt concept]
- Facioscapulohumeral dystrophy [ORDO Disease]
- Facioscapulohumeral muscular dystrophy [ICD-11 Subcategory]
- Facioscapulohumeral muscular dystrophy [MedDRA Preferred Term]
- Facioscapulohumeral muscular dystrophy (disorder) [SNOMED CT concept]
- Facioscapulohumeral muscular dystrophy 1 [OMIM Phenotype]
- Muscular dystrophy [ICD-10 Sub-category]
- Muscular dystrophy [ICD-10 Sub-category (who)]
- Muscular dystrophy, scapulohumeral [OMIM Phenotype]
- facioscapulohumeral muscular dystrophy [DO Concept]
- facioscapulohumeral muscular dystrophy [Disease (Nov.)]
- facioscapulohumeral muscular dystrophy [SNOMED Notion]
DO Cross reference
- facioscapulohumeral muscular dystrophy [DO Concept]
Manual NTBT mappings (CISMeF)
- Non-dystrophic myopathy [ORDO Disease]
- Progressive muscular dystrophy [ORDO Disease]
Record concept(s)
- muscular dystrophy, facioscapulohumeral [MeSH concept]
Related MeSH Supplementary Concept(s)
- facioscapulohumeral muscular dystrophy 1B [MeSH Supplementary Concept]
- facioscapulohumeral muscular dystrophy 1a [MeSH Supplementary Concept]
- muscular dystrophy, scapulohumeral [MeSH Supplementary Concept]
- myopathy with storage of glycoproteins and glycosaminoglycans [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Facioscapulohumeral Muscular Dystrophy [NCIt concept]
- Facioscapulohumeral dystrophy [ORDO Disease]
- Facioscapulohumeral muscular dystrophy [MedDRA Preferred Term]
- Facioscapulohumeral muscular dystrophy (disorder) [SNOMED CT concept]
- facioscapulohumeral muscular dystrophy [SNOMED Notion]
- facioscapulohumeral muscular dystrophy [DO Concept]

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