1173036000: Combined oxidative phosphorylation defect type 23 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Cardiac finding\...
• \Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Heart disease\Cardiac complication\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Combined oxidative phosphorylation defect type 23
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Combined oxidative phosphorylation defect type 23
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Combined oxidative phosphorylation defect type 23
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Combined oxidative phosphorylation defect type 23
• \Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Cardiovascular finding\Cardiac finding\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Combined oxidative phosphorylation defect type 23
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \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 23
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 23
• \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 23
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Combined oxidative phosphorylation defect type 23
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Combined oxidative phosphorylation defect type 23
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 23
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Combined oxidative phosphorylation defect type 23
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 23
• \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 23
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Combined oxidative phosphorylation defect type 23
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 23
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Combined oxidative phosphorylation defect type 23
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \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 23
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 23
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Combined oxidative phosphorylation defect type 23
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Combined oxidative phosphorylation defect type 23
• \Disease\Developmental disorder\Developmental hereditary disorder\Combined oxidative phosphorylation defect type 23

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4637166016	Combined oxidative phosphorylation defect type 23	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4637167013	Combined oxidative phosphorylation defect type 23 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4637168015	COXPD23 - combined oxidative phosphorylation defect type 23	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399438013	A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399439017	A rare mitochondrial disease characterised by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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