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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding related to coordination / incoordination (finding)\Ataxia\Hereditary ataxia (disorder)\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity 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 optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)
\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)
\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 (disorder)
\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 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)
\Disease\Degenerative disorder\Atrophy (disorder)\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)
\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 (disorder)
\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 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)
\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 (disorder)
\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 (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)
\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 (disorder)
\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 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity 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 optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity 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 optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity 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\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous 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 (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Early-onset progressive neurodegeneration, blindness, ataxia, spasticity 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

3706577019 Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3706578012 Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

4202881000052115 syndrom med tidigt debuterande progressiv neurodegeneration, blindhet, ataxi och spasticitet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	Associated morphology	Primary atrophy	true	Inferred relationship	Some	1
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	Is a	Hereditary optic atrophy	true	Inferred relationship	Some
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	Is a	Inherited optic neuropathy	false	Inferred relationship	Some
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	Is a	Chronic nervous system disorder (disorder)	true	Inferred relationship	Some
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	Is a	Degenerative disease of the central nervous system	false	Inferred relationship	Some
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	Finding site	Optic nerve structure	true	Inferred relationship	Some	1
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	Occurrence	Childhood	false	Inferred relationship	Some	2
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	Occurrence	Childhood	true	Inferred relationship	Some	1
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	Associated morphology	degeneration	false	Inferred relationship	Some	2
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3706577019	Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706578012	Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4202881000052115	syndrom med tidigt debuterande progressiv neurodegeneration, blindhet, ataxi och spasticitet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)