782696001: Recessive mitochondrial ataxia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Recessive mitochondrial ataxia syndrome
• \Cerebellar ataxia\Early onset cerebellar ataxia\Recessive mitochondrial ataxia syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Recessive mitochondrial ataxia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Recessive mitochondrial ataxia syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Recessive mitochondrial ataxia syndrome
• \Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Recessive mitochondrial ataxia syndrome
• \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\Recessive mitochondrial ataxia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Recessive mitochondrial ataxia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Recessive mitochondrial ataxia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Recessive mitochondrial ataxia syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Recessive mitochondrial ataxia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Recessive mitochondrial ataxia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Recessive mitochondrial ataxia syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Recessive mitochondrial ataxia syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Recessive mitochondrial ataxia syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Recessive mitochondrial ataxia syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Recessive mitochondrial ataxia syndrome
• \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\Recessive mitochondrial ataxia syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Recessive mitochondrial ataxia syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Depletion of mitochondrial DNA\Recessive mitochondrial ataxia syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Recessive mitochondrial ataxia syndrome

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755256016	Recessive mitochondrial ataxia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3755257013	Recessive mitochondrial ataxia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3755258015	MIRAS - mitochondrial recessive ataxia syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3755259011	A rare mitochondrial DNA maintenance syndrome with characteristics of early-onset cerebellar ataxia and a variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.	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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