765091006: Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (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)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Finding of coordination\Ataxia\...
• \Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (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)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (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)\Spinocerebellar ataxia with axonal neuropathy type 1 (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)\Spinocerebellar ataxia with axonal neuropathy type 1 (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)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (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)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (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)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (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)\Spinocerebellar ataxia with axonal neuropathy type 1 (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)\Spinocerebellar ataxia with axonal neuropathy type 1 (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)\Spinocerebellar ataxia with axonal neuropathy type 1 (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)\Spinocerebellar ataxia with axonal neuropathy type 1 (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)\Spinocerebellar ataxia with axonal neuropathy type 1 (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)\Spinocerebellar ataxia with axonal neuropathy type 1 (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)\Spinocerebellar ataxia with axonal neuropathy type 1 (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)\Spinocerebellar ataxia with axonal neuropathy type 1 (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)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3656373011	Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3656374017	Spinocerebellar ataxia with axonal neuropathy type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404468016	Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404469012	Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterised by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolaemia and borderline hypoalbuminaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656373011	Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3656374017	Spinocerebellar ataxia with axonal neuropathy type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3656375016	A rare genetic neurological disorder characterised by late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolaemia and borderline hypoalbuminaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656376015	A rare genetic neurological disorder characterized by late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404468016	Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404469012	Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterised by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolaemia and borderline hypoalbuminaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3427561001000110	Ataxie, spinozerebelläre mit axonaler Neuropathie, Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
921421000172118	SCAN1 - spinocerebellar ataxia with axonal neuropathy type 1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
973981000172114	syndrome d'ataxie spinocérébelleuse-neuropathie axonale type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
921421000172118	SCAN1 - spinocerebellar ataxia with axonal neuropathy type 1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
973981000172114	syndrome d'ataxie spinocérébelleuse-neuropathie axonale type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3427561001000110	Ataxie, spinozerebelläre mit axonaler Neuropathie, Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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Component annotation with string value reference set (foundation metadata concept)

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