1197052008: Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Central nervous system finding\Finding of brain\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \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 encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \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 encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidaemia\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Methylmalonic acidaemia\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Metabolic disease\Organic acid metabolism disorder\Non-amino organic acidaemia AND/OR aciduria\Methylmalonic acidaemia\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Metabolic disease\Disorder of acid-base balance\Acidaemia\Methylmalonic acidaemia\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \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 encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4694733018	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4694734012	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria	en	Synonym	Active	Case insensitive	SNOMED CT core
4694735013	Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4694736014	Mitochondrial encephalomyopathy aminoacidopathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4694737017	mtDNA (mitochondrial deoxyribonucleic acid) depletion syndrome encephalomyopathic form with methylmalonic aciduria	en	Synonym	Active	Case sensitive	SNOMED CT core
4694738010	Booth Haworth Dilling syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4694739019	A rare mitochondrial DNA depletion syndrome with characteristics of neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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