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 disease\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 disease\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 disease\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 disease\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\Generalised epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\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\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\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\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\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\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\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 disease\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\Generalised epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Encephalopathy\Chronic brain syndrome\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disorder of head\Encephalopathy\...
• \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
• \Generalised 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
• \Generalised 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\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Neurological disorder\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\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of body system\Neurological disorder\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\Neurological disorder\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\Neurological disorder\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of head\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
• \Disease\Disorder of head\Encephalopathy\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 disease\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, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

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	Case sensitive	SNOMED CT core
3706345016	Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3706346015	Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3706347012	Autosomal recessive spastic ataxia type 5	en	Synonym	Active	Case insensitive	SNOMED CT core
3706348019	AFG3L2-related spastic ataxia, myoclonic epilepsy, neuropathy syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3706349010	A rare hereditary spastic ataxia disorder with childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. Caused by homozygous mutation in the AFG3L2 gene on chromosome 18p11.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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