771469002: Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of back\Finding of spinal region\Disorder of spinal region\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Cerebellar ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of spinal cord\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Chronic brain syndrome\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Disorder of brain\Chronic brain syndrome\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disorder of head\Disorder of brain\...
• \Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Seizure disorder\Epilepsy\...
• \Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Generalized epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Chronic brain syndrome\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\...
• \Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Generalized epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Chronic brain syndrome\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Chronic brain syndrome\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of head\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of head\Disorder of brain\Chronic brain syndrome\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Metabolic disease\Mitochondrial cytopathy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Metabolic disease\Chronic metabolic disorder\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of back\Disorder of spinal region\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Chronic disease\Chronic metabolic disorder\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3706344017	AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) related spastic ataxia, myoclonic epilepsy, neuropathy syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3706345016	Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3706346015	Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3706347012	Autosomal recessive spastic ataxia type 5	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3706348019	AFG3L2-related spastic ataxia, myoclonic epilepsy, neuropathy syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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