1172844009: Combined oxidative phosphorylation defect type 27 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Combined oxidative phosphorylation defect type 27
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Combined oxidative phosphorylation defect type 27
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Combined oxidative phosphorylation defect type 27
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Combined oxidative phosphorylation defect type 27
• \Disorder of head\Encephalopathy\Combined oxidative phosphorylation defect type 27
• \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\Combined oxidative phosphorylation defect type 27
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 27
• \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 27
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Combined oxidative phosphorylation defect type 27
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 27
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Combined oxidative phosphorylation defect type 27
• \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 27
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Combined oxidative phosphorylation defect type 27
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 27
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Combined oxidative phosphorylation defect type 27
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Combined oxidative phosphorylation defect type 27
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Combined oxidative phosphorylation defect type 27
• \Disease\Disorder of head\Encephalopathy\Combined oxidative phosphorylation defect type 27
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Combined oxidative phosphorylation defect type 27
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 27
• \Disease\Metabolic disease\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 27
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Combined oxidative phosphorylation defect type 27
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 27

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4636178011	Combined oxidative phosphorylation defect type 27	en	Synonym	Active	Case insensitive	SNOMED CT core
4636179015	Combined oxidative phosphorylation defect type 27 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4636180017	COXPD27 - combined oxidative phosphorylation defect type 27	en	Synonym	Active	Case sensitive	SNOMED CT core
4636181018	A rare mitochondrial oxidative phosphorylation disorder with a variable clinical phenotype. Manifestations include infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder and liver involvement along with childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment and progressive tetraparesis. Serum lactate may be increased and brain imaging shows variable atrophy and white matter abnormalities.	en	Definition	Active	Case sensitive	SNOMED CT core

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Reference Sets

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