784370005: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• \Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• \Disease\Metabolic disease\Mitochondrial cytopathy\Cytochrome-c oxidase deficiency\Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• \Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• \Disease\Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3763821014	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3763822019	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3763823012	Benign COX (cytochrome C oxidase) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3763824018	Mitochondrial myopathy with reversible complex IV deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3763825017	Reversible infantile cytochrome C oxidase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3763826016	Infantile reversible cytochrome C oxidase deficiency myopathy	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3763827013	Reversible infantile respiratory chain deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3763828015	Mitochondrial myopathy with reversible COX (cytochrome C oxidase) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3763829011	A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of potentially life-threatening severe myopathy manifesting in the neonatal to early infantile period, followed by marked spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient marked decrease in respiratory chain activity.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start