National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Myotonic Disorder

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.

Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C107377

label

Myotonic Disorder

NICHD_Hierarchy_Term

Myotonic Disorder

Preferred_Name

Myotonic Disorder

prefixIRI

C84913

prefLabel

Myotonic Disorder

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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