1208937004: Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (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 variable craniofacial anomalies
• \Central nervous system finding\Finding of brain\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \Disease\Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \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 variable craniofacial anomalies
• \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 variable craniofacial anomalies

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5013635016	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5013636015	mtDNA (mitochondrial deoxyribonucleic acid) depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	en	Synonym	Active	Case sensitive	SNOMED CT core
5013637012	Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	en	Synonym	Active	Case insensitive	SNOMED CT core
5013638019	Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5013639010	A rare mitochondrial DNA depletion syndrome with characteristics of congenital or early-onset lactic acidosis, hypotonia and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities.	en	Definition	Active	Case sensitive	SNOMED CT core
5013640012	A rare mitochondrial DNA depletion syndrome with characteristics of congenital or early-onset lactic acidosis, hypotonia and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalised atrophy and white matter abnormalities.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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