Autosomal recessive posterior column ataxia and retinitis pigmentosa 724065003

SNOMED CT code

SNOMED code

724065003

name

Autosomal recessive posterior column ataxia and retinitis pigmentosa

status

active

date introduced

2017-07-31

fully specified name(s)

Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder)

synonyms

Autosomal recessive posterior column ataxia and retinitis pigmentosa
Posterior column ataxia with retinitis pigmentosa syndrome

attributes - group1

Finding site

Cerebellar structure 113305005

attributes - group2

Associated morphology

Dystrophy 4720007

Finding site

Retinal structure 5665001

parents

Early onset cerebellar ataxia 230227009
Autosomal recessive retinitis pigmentosa 232053004
Hereditary ataxia 763597000

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of coordination 298314008
Ataxia 20262006
Cerebellar ataxia 85102008
Early onset cerebellar ataxia 230227009
Autosomal recessive posterior column ataxia and retinitis pigmentosa 724065003

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Autosomal recessive retinitis pigmentosa 232053004
Autosomal recessive posterior column ataxia and retinitis pigmentosa 724065003

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of coordination 298314008
Ataxia 20262006
Hereditary ataxia 763597000
Autosomal recessive posterior column ataxia and retinitis pigmentosa 724065003

ancestors

sorted most to least specific

Early onset cerebellar ataxia 230227009
Autosomal recessive retinitis pigmentosa 232053004
Hereditary ataxia 763597000
Cerebellar ataxia 85102008
Retinitis pigmentosa 28835009
Autosomal recessive hereditary disorder 85995004
Hereditary disorder of nervous system 363235000
Ataxia 20262006
Hereditary retinal dystrophy 41799005
Cerebellar disorder 223176004
Autosomal hereditary disorder 1899006
Finding of coordination 298314008
Retinal dystrophy 314407005
Disorder of brain 81308009
Hereditary disorder of the visual system 363343008
Degeneration of retina 95695004
Disorder of the central nervous system 23853001
Finding of brain 299718000
Hereditary disorder by system 363137000
Retinal disorder 29555009
Hereditary disease 32895009
Degenerative disorder of eye 62585004
Disorder of nervous system 118940003
Central nervous system finding 246556002
Disorder of vitreous body and retina 312771007
Genetic disease 782964007
Anomaly of eye 11131000119108
Retina finding 399858007
Degenerative disorder 362975008
Disorder of posterior segment of eye 128536001
Disorder of eye 371405004
Disorder of sensory organ 1279550006
Globe finding 246915008
Disorder of eye region 371409005
Disorder of head 118934005
Visual system disorder 128127008
Finding of head region 298364001
Head finding 406122000
Eye / vision finding 118235002
Disorder of body system 362965005
Disease 64572001
Finding of head and neck region 118254002
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Finding of coordination 298314008

Ataxia 20262006

Cerebellar ataxia 85102008

Early onset cerebellar ataxia 230227009

Autosomal recessive posterior column ataxia and retinitis pigmentosa 724065003

SNOMED CT code