782771007: Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\...
• \Kidney finding\Kidney disease\...
• \Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disorder of renal parenchyma (disorder)\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \maladie métabolique du rein\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos du foie\affection du foie\troubles métaboliques et génétiques affectant le foie\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Digestive system finding (finding)\constatation à propos du foie\affection du foie\troubles métaboliques et génétiques affectant le foie\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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 hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\maladie métabolique du rein\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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 hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\maladie métabolique du rein\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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\Kidney finding\Kidney disease\maladie métabolique du rein\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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 hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\maladie métabolique du rein\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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 hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\maladie métabolique du rein\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\maladie métabolique du rein\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\maladie métabolique du rein\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\maladie métabolique du rein\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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 hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\maladie métabolique du rein\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \affection de la tête\Disorder of brain (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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 hepatocerebrorenal form
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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 hepatocerebrorenal form
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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 hepatocerebrorenal form
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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 hepatocerebrorenal form
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\maladie métabolique du rein\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\maladie métabolique du rein\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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 hepatocerebrorenal form
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\maladie métabolique du rein\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\affection de la tête\Disorder of brain (disorder)\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\trouble métabolique\troubles métaboliques et génétiques affectant le foie\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\trouble métabolique\maladie métabolique du rein\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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 hepatocerebrorenal form
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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 hepatocerebrorenal form
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome hepatocerebrorenal form

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
3755705014	Mitochondrial DNA depletion syndrome hepatocerebrorenal form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755706010	Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755707018	Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3761537018	A rare genetic mitochondrial DNA depletion syndrome characterised by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminaemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3761538011	A rare genetic mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.	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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