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

\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

\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 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\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\Inborn error of metabolism\Inherited metabolic disorder of nervous system\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 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\Mitochondrial cytopathy (disorder)\Combined oxidative phosphorylation defect type 23
\Disease\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\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 23
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Combined oxidative phosphorylation defect type 23
\Disease\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\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 23
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental 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

4637169011 A rare mitochondrial disease with characteristics of 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

5341001000052115 kombinerad brist på oxidativ fosforylering, typ 23 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Combined oxidative phosphorylation defect type 23	Is a	Intellectual disability	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Is a	Disorder of mitochondrial respiratory chain complexes	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Is a	Mitochondrial cytopathy (disorder)	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Due to	Mitochondrial cytopathy (disorder)	true	Inferred relationship	Some	4
Combined oxidative phosphorylation defect type 23	Occurrence	Congenital	true	Inferred relationship	Some	1
Combined oxidative phosphorylation defect type 23	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Combined oxidative phosphorylation defect type 23	Finding site	Myocardium structure	true	Inferred relationship	Some	3
Combined oxidative phosphorylation defect type 23	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Combined oxidative phosphorylation defect type 23	Is a	Mitochondrial cardiomyopathy (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
4637169011	A rare mitochondrial disease with characteristics of 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
5341001000052115	kombinerad brist på oxidativ fosforylering, typ 23	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)