1389257002: Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical visual impairment (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical visual impairment (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical visual impairment (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Abnormal behavior\Intellectual disability\Genetic intellectual disability\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Peripheral axonal neuropathy\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \General finding of soft tissue\Spasticity\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Peripheral axonal neuropathy\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical visual impairment (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical visual impairment (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment 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\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment 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\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Axonal neuropathy\Peripheral axonal neuropathy\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disorder of visual cortex\Cortical visual impairment (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Cortical visual impairment (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Functional finding\Communication disorder\Speech and language disorder\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Speech finding\Speech and language finding\Communication, speech and language finding\Communication disorder\Speech and language disorder\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Muscle finding\Finding of muscle tone (finding)\Increased muscle tone\Spasticity\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Musculoskeletal finding\Spasticity\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Genetic disease\Genetic intellectual disability\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual cortex\Cortical visual impairment (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Cortical visual impairment (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Peripheral axonal neuropathy\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Axonal neuropathy\Peripheral axonal neuropathy\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Peripheral axonal neuropathy\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Myoneural disorder\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical visual impairment (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Disorder 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\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Disorder 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\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Axonal neuropathy\Peripheral axonal neuropathy\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Communication disorder\Speech and language disorder\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical visual impairment (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Peripheral axonal neuropathy\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Neurodevelopmental delay (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Genetic intellectual disability\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Developmental disorder\Developmental delay\Neurodevelopmental delay (disorder)\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2026. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
6160518019	Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6160519010	NESCAV (neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6160520016	Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6160521017	NESCAV syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6160522012	A rare syndromic neurodegenerative syndrome characterized by infancy/childhood-onset global developmental delay, poor or absent speech, moderate to severe intellectual disability, hypotonia, progressive spasticity (mainly affecting the lower limbs and leading to walking difficulties or loss of independent ambulation), and peripheral axonal neuropathy. The clinical presentation varies among affected individuals and other major clinical features include progressive cerebellar atrophy (in some patients cerebral atrophy may also be present), postnatal microcephaly, cortical visual impairment (associated with optic atrophy), seizures, hyperreflexia, dysautonomia, ataxia, dystonia, behavioral abnormalities and feeding difficulties. Joint contractures, scoliosis and kyphosis may also be present.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6160523019	A rare syndromic neurodegenerative syndrome characterised by infancy/childhood-onset global developmental delay, poor or absent speech, moderate to severe intellectual disability, hypotonia, progressive spasticity (mainly affecting the lower limbs and leading to walking difficulties or loss of independent ambulation), and peripheral axonal neuropathy. The clinical presentation varies among affected individuals and other major clinical features include progressive cerebellar atrophy (in some patients cerebral atrophy may also be present), postnatal microcephaly, cortical visual impairment (associated with optic atrophy), seizures, hyperreflexia, dysautonomia, ataxia, dystonia, behavioural abnormalities and feeding difficulties. Joint contractures, scoliosis and kyphosis may also be present.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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