771514002: Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity 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 optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity 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 optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
• \Disease\Chronic disease\Chronic nervous system disorder\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3706577019	Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3706578012	Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3706579016	A genetic neurodegenerative disease with normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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