National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Metabolic Myopathy

Synonyms

Metabolic Myopathy

Definitions

A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98985

code

C98985

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

A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.

FULL_SYN

Metabolic Myopathy

label

Metabolic Myopathy

Preferred_Name

Metabolic Myopathy

prefixIRI

Thesaurus:C98985

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0270984

subClassOf

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

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