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National Cancer Institute
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Version: 17.08d (Release date: 2017-08-28)
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Congenital Structural Myopathy (Code C84648)

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Terms & Properties

Preferred Name: Congenital Structural Myopathy

Definition: A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.

Label: Congenital Structural Myopathy

NCI Thesaurus Code: C84648 (Search for linked caDSR metadata)  (search value sets)

NCI Metathesaurus Link: C0752282  (see NCI Metathesaurus info)

Synonyms & Abbreviations: (see Synonym Details)
Centronuclear Myopathy
Congenital Structural Myopathy

External Source Codes: 
UMLS CUI C0752282

Other Properties:
     Name Value (qualifiers indented underneath)
code C84648
Semantic_Type Disease or Syndrome

Additional Concept Data: 
Defined Fully by Roles: No  


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