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

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\...

\Kidney finding\Kidney disease\...

\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form

\Disorder of renal parenchyma\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form

\Metabolic renal disease\Mitochondrial DNA depletion syndrome hepatocerebrorenal form

\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome hepatocerebrorenal form

\Digestive system finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome hepatocerebrorenal form

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form

\Central nervous system finding\Finding of brain\Encephalopathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form

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

\Finding of brain\Encephalopathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form

\Disorder of head\Encephalopathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form

\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\Depletion of mitochondrial DNA\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Disorder of head\Encephalopathy\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Depletion of mitochondrial DNA\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Metabolic disease\Metabolic renal disease\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
\Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Depletion of mitochondrial DNA\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, Primitive. 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 Active Initial character case insensitive SNOMED CT core

3755706010 Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3755707018 Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Is a	Encephalopathy	true	Inferred relationship	Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Is a	Depletion of mitochondrial DNA	true	Inferred relationship	Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Occurrence	Congenital	true	Inferred relationship	Some	3
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Is a	Renal tubular disorder	true	Inferred relationship	Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Is a	Metabolic and genetic disorder affecting the liver	true	Inferred relationship	Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Occurrence	Congenital	true	Inferred relationship	Some	1
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Is a	Hereditary nephropathy	true	Inferred relationship	Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Occurrence	Congenital	true	Inferred relationship	Some	2
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Finding site	Structure of cerebrum	true	Inferred relationship	Some	3
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Finding site	Liver structure	true	Inferred relationship	Some	1
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Finding site	Renal tubule structure	true	Inferred relationship	Some	2
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Is a	Metabolic renal disease	true	Inferred relationship	Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3755705014	Mitochondrial DNA depletion syndrome hepatocerebrorenal form	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3755706010	Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3755707018	Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core