muscular dystrophies

Preferred Label : muscular dystrophies;

MeSH definition : A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.;

MeSH synonym : muscular dystrophy; myodystrophy; myodystrophica; myodystrophicas; myodystrophies; dystrophies, muscular; dystrophy, muscular;

MeSH annotation : GEN: prefer specifics; do not confuse with MYOTONIC DYSTROPHY; general or unspecified; prefer specifics; do not confuse with MYOTONIC DYSTROPHY;

Wikipedia link : https://en.wikipedia.org/wiki/Muscular dystrophy;

Details

Origin ID

D009136;

UMLS CUI

C0026850;

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]
Automatic exact mappings (from CISMeF team)
- Muscular dystrophy [ACR pathology]
- dystrophin [HGNC gene]
- neurological disease other [ICPC-2 Rubric]
Currated CISMeF NLP mapping
- MUSCULAR DYSTROPHY [WHO-ART Included Term]
- Muscular Dystrophy [NCIt concept]
- Muscular dystrophy [PASCAL descriptor]
- Muscular dystrophy [ICD-10 Sub-category]
- Muscular dystrophy [ICD-11 Category]
- Muscular dystrophy [ICD-10 Sub-category (who)]
- Muscular dystrophy [HPO term]
- Muscular dystrophy [MedDRA Preferred Term]
- Muscular dystrophy [HPMULTI term]
- Muscular dystrophy [ORDO Disease]
- Muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy NOS [MedDRA LLT]
- muscular dystrophy [DO Concept]
- muscular dystrophy [Disease (Nov.)]
- muscular dystrophy [MedlinePlus Topic]
- muscular dystrophy [Artificial nutrition thesaurus concept]
- muscular dystrophy, nos [SNOMED Notion]
DO Cross reference
- muscular dystrophy [DO Concept]
HPO term
- Muscular dystrophy [HPO term]
Indexing information
- DYSF protein, human [MeSH Supplementary Concept]
- FRG1 protein, human [MeSH Supplementary Concept]
- Frg1 protein, mouse [MeSH Supplementary Concept]
- LARGE1 protein, human [MeSH Supplementary Concept]
- SIX5 protein, human [MeSH Supplementary Concept]
- Six5 protein, mouse [MeSH Supplementary Concept]
- emerin [MeSH Supplementary Concept]
- fcmd protein, mouse [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Progressive muscular dystrophy [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Genetic skeletal muscle disease [ORDO Disease]
MedlinePlus topic(s)
- muscular dystrophy [MedlinePlus Topic]
Ne pas confondre avec
- myotonic dystrophy [MeSH Descriptor]
ORDO relation(s)
- Muscular dystrophy [ORDO Disease]
Record concept(s)
- muscular dystrophies [MeSH concept]
Related MeSH Supplementary Concept(s)
- Alpha-B crystallinopathy with cataract [MeSH Supplementary Concept]
- amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis [MeSH Supplementary Concept]
- bassoe syndrome [MeSH Supplementary Concept]
- bethlem myopathy [MeSH Supplementary Concept]
- filaminopathy, autosomal dominant [MeSH Supplementary Concept]
- muscular dystrophy congenital, merosin negative [MeSH Supplementary Concept]
- muscular dystrophy, Adult-Onset, with leukoencephalopathy [MeSH Supplementary Concept]
- muscular dystrophy, barnes type [MeSH Supplementary Concept]
- muscular dystrophy, cardiac type [MeSH Supplementary Concept]
- muscular dystrophy, congenital, 1B [MeSH Supplementary Concept]
- muscular dystrophy, congenital, 1C [MeSH Supplementary Concept]
- muscular dystrophy, congenital, Lmna-Related [MeSH Supplementary Concept]
- muscular dystrophy, congenital, Merosin-Positive [MeSH Supplementary Concept]
- muscular dystrophy, congenital, associated with calf hypertrophy, microcephaly, and severe mental retardation [MeSH Supplementary Concept]
- muscular dystrophy, congenital, due to integrin Alpha-7 deficiency [MeSH Supplementary Concept]
- muscular dystrophy, congenital, due to partial LAMA2 deficiency [MeSH Supplementary Concept]
- muscular dystrophy, congenital, infantile with cataract and hypogonadism [MeSH Supplementary Concept]
- muscular dystrophy, congenital, megaconial type [MeSH Supplementary Concept]
- muscular dystrophy, congenital, plus mental retardation [MeSH Supplementary Concept]
- muscular dystrophy, congenital, producing arthrogryposis [MeSH Supplementary Concept]
- muscular dystrophy, congenital, type 1D [MeSH Supplementary Concept]
- muscular dystrophy, congenital, with cerebellar atrophy [MeSH Supplementary Concept]
- muscular dystrophy, congenital, with rapid progression [MeSH Supplementary Concept]
- muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers [MeSH Supplementary Concept]
- muscular dystrophy, mabry type [MeSH Supplementary Concept]
- muscular dystrophy, progressive pectorodorsal [MeSH Supplementary Concept]
- muscular dystrophy, pseudohypertrophic, with internalized capillaries [MeSH Supplementary Concept]
- myopathy with abnormal lipid metabolism [MeSH Supplementary Concept]
- myopathy, myofibrillar, Desmin-Related [MeSH Supplementary Concept]
- myopathy, myofibrillar, Zasp-Related [MeSH Supplementary Concept]
- oculopharyngodistal myopathy [MeSH Supplementary Concept]
- rigid spine syndrome [MeSH Supplementary Concept]
- scleroatonic muscular dystrophy [MeSH Supplementary Concept]
- vacuolar neuromyopathy [MeSH Supplementary Concept]
Related MeSH term(s)
- muscular dystrophy, animal [MeSH Descriptor]
See also
- mice, inbred mdx [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Duchenne muscular dystrophy [ICD-11 Subcategory]
- Limb-girdle muscular dystrophy [ICD-11 Subcategory]
- MUSCULAR DYSTROPHY [WHO-ART Included Term]
- Muscular Dystrophy [NCIt concept]
- Muscular dystrophy [ORDO Disease]
- Muscular dystrophy [ICD-10 Sub-category]
- Muscular dystrophy [HPO term]
- Muscular dystrophy [MedDRA Preferred Term]
- Muscular dystrophy [ICD-10 Sub-category (who)]
- Muscular dystrophy [PASCAL descriptor]
- Muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy NOS [MedDRA LLT]
- Scapuloperoneal muscular dystrophy [ICD-11 Subcategory]
- hereditary progressive muscular dystrophy, nos [SNOMED Notion]
- muscular dystrophy [DO Concept]
- muscular dystrophy [Disease (Nov.)]
- muscular dystrophy [MedlinePlus Topic]
- muscular dystrophy, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- oculopharyngeal muscular dystrophy [Disease (Nov.)]

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