717054001: Maternally inherited mitochondrial dystonia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Maternally inherited mitochondrial dystonia
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Maternally inherited mitochondrial dystonia
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Maternally inherited mitochondrial dystonia
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Maternally inherited mitochondrial dystonia
• \Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Maternally inherited mitochondrial dystonia
• \Disease\Genetic disease\Hereditary disease\Maternally inherited mitochondrial deoxyribonucleic acid disease\Maternally inherited mitochondrial dystonia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Maternally inherited mitochondrial dystonia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Maternally inherited mitochondrial dystonia
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Maternally inherited mitochondrial dystonia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Maternally inherited mitochondrial dystonia
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Maternally inherited mitochondrial dystonia
• \Disease\Metabolic disease\Mitochondrial cytopathy\Maternally inherited mitochondrial dystonia
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Maternally inherited mitochondrial dystonia

Status: current, Defined. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308304013	Maternally inherited mitochondrial dystonia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3308305014	Maternally inherited mitochondrial dystonia	en	Synonym	Active	Case insensitive	SNOMED CT core
3308306010	A rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.	en	Definition	Active	Case sensitive	SNOMED CT core
3308307018	A rare neurological mitochondrial DNA-related disorder characterised clinically by progressive paediatric-onset dystonia with variable degrees of severity.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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