1197430005: Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (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\QRSL1-related combined oxidative phosphorylation defect

\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect

\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect

\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\QRSL1-related combined oxidative phosphorylation defect
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect

\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\QRSL1-related combined oxidative phosphorylation defect
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\QRSL1-related combined oxidative phosphorylation defect
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\QRSL1-related combined oxidative phosphorylation defect
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\QRSL1-related combined oxidative phosphorylation defect
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\QRSL1-related combined oxidative phosphorylation defect
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\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\QRSL1-related combined oxidative phosphorylation defect
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\QRSL1-related combined oxidative phosphorylation defect
\Disease\Metabolic disease\Mitochondrial cytopathy\QRSL1-related combined oxidative phosphorylation defect
\Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\QRSL1-related combined oxidative phosphorylation defect

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4696316014 QRSL1-related combined oxidative phosphorylation defect en Synonym Active Case sensitive SNOMED CT core

4696417018 Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4696418011 Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect en Synonym Active Case insensitive SNOMED CT core

4696317017 A rare mitochondrial disease with characteristics of prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep grey matter structures on brain MRI have also been reported. en Definition Active Case sensitive SNOMED CT core

4696318010 A rare mitochondrial disease with characteristics of prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
QRSL1-related combined oxidative phosphorylation defect	Is a	Mitochondrial respiratory chain complexes disorder	true	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	Is a	Mitochondrial cytopathy	true	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	Is a	Hypertrophic mitochondrial cardiomyopathy	true	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	Due to	Mitochondrial cytopathy	true	Inferred relationship	Some	3
QRSL1-related combined oxidative phosphorylation defect	Occurrence	Congenital	true	Inferred relationship	Some	2
QRSL1-related combined oxidative phosphorylation defect	Finding site	Myocardium structure	true	Inferred relationship	Some	1
QRSL1-related combined oxidative phosphorylation defect	Associated morphology	Hypertrophy	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4696316014	QRSL1-related combined oxidative phosphorylation defect	en	Synonym	Active	Case sensitive	SNOMED CT core
4696417018	Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4696418011	Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect	en	Synonym	Active	Case insensitive	SNOMED CT core
4696317017	A rare mitochondrial disease with characteristics of prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep grey matter structures on brain MRI have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core
4696318010	A rare mitochondrial disease with characteristics of prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core