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National Drug File - Reference Terminology
| Preferred Name | Muscular Dystrophy, Duchenne [Disease/Finding] | |
| Synonyms |
Childhood Pseudohypertrophic Muscular Dystrophy Cardiomyopathy, Dilated, 3B Muscular Dystrophy, Duchenne Duchenne-Type Progressive Muscular Dystrophy Childhood Muscular Dystrophy, Pseudohypertrophic Pseudohypertrophic Muscular Dystrophy, Childhood Muscular Dystrophy, Pseudohypertrophic Pseudohypertrophic Childhood Muscular Dystrophy Muscular Dystrophy, Childhood, Pseudohypertrophic Progressive Muscular Dystrophy, Duchenne Type Cardiomyopathy, Dilated, X-Linked Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Duchenne Muscular Dystrophy Muscular Dystrophy, Duchenne Type Muscular Dystrophy, Pseudohypertrophic, Childhood |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000004131 |
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| altLabel |
Childhood Pseudohypertrophic Muscular Dystrophy Cardiomyopathy, Dilated, 3B Muscular Dystrophy, Duchenne Duchenne-Type Progressive Muscular Dystrophy Childhood Muscular Dystrophy, Pseudohypertrophic Pseudohypertrophic Muscular Dystrophy, Childhood Muscular Dystrophy, Pseudohypertrophic Pseudohypertrophic Childhood Muscular Dystrophy Muscular Dystrophy, Childhood, Pseudohypertrophic Progressive Muscular Dystrophy, Duchenne Type Cardiomyopathy, Dilated, X-Linked Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Duchenne Muscular Dystrophy Muscular Dystrophy, Duchenne Type Muscular Dystrophy, Pseudohypertrophic, Childhood
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| cui |
C0013264
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| May be treated by |
http://purl.bioontology.org/ontology/NDFRT/N0000193304 http://purl.bioontology.org/ontology/NDFRT/N0000193330 http://purl.bioontology.org/ontology/NDFRT/N0000192802 http://purl.bioontology.org/ontology/NDFRT/N0000193332 http://purl.bioontology.org/ontology/NDFRT/N0000193333 http://purl.bioontology.org/ontology/NDFRT/N0000193334 |
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| MESH DEFINITION |
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
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| MESH DUI |
D020388
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| MeSH name |
Muscular Dystrophy, Duchenne
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| MESH UI |
M0014253
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| NDFRT kind |
DISEASE_KIND
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| notation |
N0000004131
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| NUI |
N0000004131
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| prefLabel |
Muscular Dystrophy, Duchenne [Disease/Finding]
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| SNOMED CID |
76670001
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| tui |
T047
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| subClassOf |
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