National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Myotonic Disorder
Synonyms

Myotonic Disorder

Definitions

An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84913

code

C84913

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

Contributing_Source

NICHD

DEFINITION

An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy.

FULL_SYN

Myotonic Disorder

label

Myotonic Disorder

Preferred_Name

Myotonic Disorder

prefixIRI

Thesaurus:C84913

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0553604

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101216

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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