782771007: Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form (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 hepatocerebrorenal form
• \Finding of trunk structure\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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 hepatocerebrorenal form
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \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 hepatocerebrorenal form
• \Disease\Disorder of body system\Disease of liver\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial DNA\Mitochondrial DNA depletion syndrome hepatocerebrorenal form
• \Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Mitochondrial DNA depletion syndrome hepatocerebrorenal form

Status: current. Date: 31-Jul 2019

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	Inactive	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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405711014	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
5405712019	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

Expanded Value Set

Reference Sets

US English

Congenital syphilitic hepatomegaly

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