783734000: Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Finding of trunk structure\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial DNA\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial DNA\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Disorder of body system\Disease of liver\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Disorder of body system\Metabolic encephalopathy\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial DNA\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Metabolic disease\Metabolic encephalopathy\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Metabolic disease\Disorder of purine metabolism\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Status: current. Date: 31-Jul 2019

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3760082018	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760083011	Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3760084017	Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3760085016	A rare genetic mitochondrial DNA depletion syndrome with characteristics of severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia. Caused by homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3760086015	A rare genetic mitochondrial DNA depletion syndrome with characteristics of severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycaemia. Caused by homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408628018	A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408629014	A rare immune disease characterised by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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