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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial DNA\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial DNA\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial DNA\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidemia\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Methylmalonic acidemia\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Metabolic disease\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Methylmalonic acidemia\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Metabolic disease\Disorder of acid-base balance\Acidemia\Methylmalonic acidemia\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
4694734012	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4694735013	Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4694736014	Mitochondrial encephalomyopathy aminoacidopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4694737017	mtDNA (mitochondrial deoxyribonucleic acid) depletion syndrome encephalomyopathic form with methylmalonic aciduria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4694738010	Booth Haworth Dilling syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399686011	A rare mitochondrial DNA depletion syndrome characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399687019	A rare mitochondrial DNA depletion syndrome characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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