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

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

\Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ 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\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\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)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

\Disorder of head (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
\Disease\Genetic disease\Hereditary disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\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\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
\Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\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\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial DNA\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\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial DNA\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

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 Active 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 Active Entire term case sensitive (core metadata concept) SNOMED CT core

4352011000052118 mitokondrie-DNA-depletionssyndrom, hepatocerebral form, orsakat av brist på deoxiguanosinkinas sv Synonym (core metadata concept) Active Only initial character 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
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Is a	Metabolic encephalopathy	true	Inferred relationship	Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Is a	Depletion of mitochondrial DNA	true	Inferred relationship	Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Is a	Disorder of purine metabolism	true	Inferred relationship	Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Is a	Metabolic and genetic disorder affecting the liver	true	Inferred relationship	Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Finding site	Liver structure	true	Inferred relationship	Some	2
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Finding site	Cerebrum	true	Inferred relationship	Some	3
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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	Active	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	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4352011000052118	mitokondrie-DNA-depletionssyndrom, hepatocerebral form, orsakat av brist på deoxiguanosinkinas	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)