765401006: Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (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
• \Central nervous system finding\Finding of brain\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form
• \Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic 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 encephalomyopathic form
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic 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 encephalomyopathic form
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial DNA depletion syndrome encephalomyopathic 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 encephalomyopathic form
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form
• \Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form
• \Disease\Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic 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 encephalomyopathic form
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form
• \Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic 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 encephalomyopathic form
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3658342016	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3658343014	Mitochondrial DNA depletion syndrome encephalomyopathic form	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3658344015	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	en	Synonym	Active	Case insensitive	SNOMED CT core
3658345019	A group of mitochondrial DNA maintenance syndrome diseases with characteristics of predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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