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

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\constatation à propos du foie\affection du foie\troubles métaboliques et génétiques affectant le foie\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Digestive system finding (finding)\constatation à propos du foie\affection du foie\troubles métaboliques et génétiques affectant le foie\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\troubles métaboliques et génétiques affectant le foie\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\troubles métaboliques et génétiques affectant le foie\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\constatation à propos du foie\affection du foie\troubles métaboliques et génétiques affectant le foie\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\affection du foie\troubles métaboliques et génétiques affectant le foie\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\troubles métaboliques et génétiques affectant le foie\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\encéphalopathie métabolique\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\encéphalopathie métabolique\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\encéphalopathie métabolique\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \affection de la tête\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\encéphalopathie métabolique\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial deoxyribonucleic acid (disorder)\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\encéphalopathie métabolique\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\troubles métaboliques et génétiques affectant le foie\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\troubles métaboliques et génétiques affectant le foie\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\affection de la tête\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\encéphalopathie métabolique\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\trouble métabolique\Disorder of purine and pyrimidine metabolism\troubles du métabolisme des purines\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\trouble métabolique\troubles métaboliques et génétiques affectant le foie\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\trouble métabolique\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial deoxyribonucleic acid (disorder)\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\trouble métabolique\encéphalopathie métabolique\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial deoxyribonucleic acid (disorder)\Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\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

Expanded Value Set

This concept is not in any reference sets

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