775908005: Combined oxidative phosphorylation defect type 17 (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\...

\Myocardial finding\Myocardial disease\Cardiomyopathy\...

\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17

\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17

\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Combined oxidative phosphorylation defect type 17
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Combined oxidative phosphorylation defect type 17
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 17
\Disease\Metabolic disease\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 17

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

Descriptions:

Id Description Lang Type Status Case? Module

3736321019 COXPD17 - combined oxidative phosphorylation defect type 17 en Synonym Active Case sensitive SNOMED CT core

3736322014 Combined oxidative phosphorylation defect type 17 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3736323016 Combined oxidative phosphorylation defect type 17 en Synonym Active Case insensitive SNOMED CT core

3731999019 A rare genetic mitochondrial disorder due to a defect in mitochondrial protein synthesis with characteristics of infantile-onset severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported. Caused by homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Combined oxidative phosphorylation defect type 17	Finding site	Myocardium structure	true	Inferred relationship	Some	1
Combined oxidative phosphorylation defect type 17	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 17	Is a	Hypertrophic mitochondrial cardiomyopathy	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 17	Due to	Mitochondrial cytopathy	true	Inferred relationship	Some	2
Combined oxidative phosphorylation defect type 17	Associated morphology	Hypertrophy	true	Inferred relationship	Some	1
Combined oxidative phosphorylation defect type 17	Is a	Mitochondrial cytopathy	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 17	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3736321019	COXPD17 - combined oxidative phosphorylation defect type 17	en	Synonym	Active	Case sensitive	SNOMED CT core
3736322014	Combined oxidative phosphorylation defect type 17 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3736323016	Combined oxidative phosphorylation defect type 17	en	Synonym	Active	Case insensitive	SNOMED CT core
3731999019	A rare genetic mitochondrial disorder due to a defect in mitochondrial protein synthesis with characteristics of infantile-onset severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported. Caused by homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12.	en	Definition	Active	Case sensitive	SNOMED CT core