Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome 771514002

SNOMED CT code

SNOMED code

771514002

name

Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome

status

active

date introduced

2019-01-31

fully specified name(s)

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

synonyms

Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome

attributes - group1

Associated morphology

Primary atrophy 68616007

Finding site

Optic nerve structure 18234004

Occurrence

Childhood 255398004

attributes - group3

Clinical course

Progressive 255314001

parents

Chronic nervous system disorder 128283000
Hereditary optic atrophy 26360005
Hereditary ataxia 763597000
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Chronic disease 27624003
Chronic nervous system disorder 128283000
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome 771514002

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Visual system disorder 128127008
Hereditary disorder of the visual system 363343008
Inherited optic neuropathy 312942003
Hereditary optic atrophy 26360005
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome 771514002

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of coordination 298314008
Ataxia 20262006
Hereditary ataxia 763597000
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome 771514002

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome 771514002

ancestors

sorted most to least specific

Chronic nervous system disorder 128283000
Hereditary optic atrophy 26360005
Hereditary ataxia 763597000
Autosomal recessive hereditary disorder 85995004
Hereditary degenerative disease of central nervous system 106018006
Ataxia 20262006
Autosomal hereditary disorder 1899006
Chronic disease 27624003
Primary optic atrophy 21098003
Inherited optic neuropathy 312942003
Hereditary disorder of nervous system 363235000
Finding of coordination 298314008
Optic atrophy 76976005
Hereditary disorder of the visual system 363343008
Disorder of optic nerve 77157004
Degenerative disease of the central nervous system 80690008
Hereditary disorder by system 363137000
Hereditary disease 32895009
Disorder of visual pathways 54767005
Cranial nerve disorder 73013002
Degenerative disorder 362975008
Genetic disease 782964007
Visual system disorder 128127008
Disorder of the central nervous system 23853001
Neuropathy 386033004
Disorder of nervous system 118940003
Eye / vision finding 118235002
Central nervous system finding 246556002
Disorder of body system 362965005
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Chronic disease 27624003

Chronic nervous system disorder 128283000

Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome 771514002

SNOMED CT code