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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706345016	Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706346015	Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706347012	Autosomal recessive spastic ataxia type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706348019	AFG3L2-related spastic ataxia, myoclonic epilepsy, neuropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706344017	AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) related spastic ataxia, myoclonic epilepsy, neuropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706345016	Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706346015	Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706347012	Autosomal recessive spastic ataxia type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706348019	AFG3L2-related spastic ataxia, myoclonic epilepsy, neuropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3391581001000112	Früh beginnende spastische Ataxie-myoklonische Epilepsie-Neuropathie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
920321000172115	syndrome d'ataxie spastique-epilepsie myoclonique-neuropathie précoce	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
943261000172112	ataxie spastique autosomique récessive type 5	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
920321000172115	syndrome d'ataxie spastique-epilepsie myoclonique-neuropathie précoce	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
943261000172112	ataxie spastique autosomique récessive type 5	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3391581001000112	Früh beginnende spastische Ataxie-myoklonische Epilepsie-Neuropathie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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