1172843003: Combined oxidative phosphorylation defect type 29 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Disorder of brain\...
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disorder of head\Disorder of brain\...
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Combined oxidative phosphorylation defect type 29
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 29
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 29
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 29
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 29
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 29
• \Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Combined oxidative phosphorylation defect type 29
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 29
• \Disease\Metabolic disease\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 29
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Combined oxidative phosphorylation defect type 29
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 29

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4636174013	Combined oxidative phosphorylation defect type 29	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4636175014	COXPD29 - combined oxidative phosphorylation defect type 29	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4636176010	Combined oxidative phosphorylation defect type 29 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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