Corneal cerebellar syndrome 720750004

SNOMED CT code

SNOMED code

720750004

name

Corneal cerebellar syndrome

status

active

date introduced

2017-01-31

fully specified name(s)

Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)

synonyms

Corneal cerebellar syndrome
Der Kaloustian Jarudi Khoury syndrome
Spinocerebellar degeneration and corneal dystrophy syndrome

attributes - group1

Associated morphology

Degenerative abnormality 107669003

Finding site

Cerebellar structure 113305005

attributes - group2

Associated morphology

Degenerative abnormality 107669003

Finding site

Spinal cord structure 2748008

attributes - group4

Associated morphology

Dystrophy 4720007

Finding site

Corneal structure 28726007

parents

Spinocerebellar ataxia 129609000
Hereditary corneal dystrophy 77797009
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of coordination 298314008
Ataxia 20262006
Hereditary ataxia 763597000
Spinocerebellar ataxia 129609000
Corneal cerebellar syndrome 720750004

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Visual system disorder 128127008
Hereditary disorder of the visual system 363343008
Hereditary corneal dystrophy 77797009
Corneal cerebellar syndrome 720750004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Corneal cerebellar syndrome 720750004

ancestors

sorted most to least specific

Spinocerebellar ataxia 129609000
Hereditary corneal dystrophy 77797009
Autosomal recessive hereditary disorder 85995004
Hereditary cerebellar degeneration 37650008
Hereditary disorder of the visual system 363343008
Autosomal hereditary disorder 1899006
Hereditary ataxia 763597000
Cerebellar ataxia 85102008
Spinocerebellar disease 91502009
Corneal dystrophy 5587004
Hereditary degenerative disease of central nervous system 106018006
Ataxia 20262006
Cerebellar degeneration 95646004
Corneal degeneration 111521006
Encephalomyelopathy 370502006
Hereditary disorder of nervous system 363235000
Finding of coordination 298314008
Cerebellar disorder 223176004
Disorder of cornea 15250008
Myelopathy 48522003
Degenerative brain disorder 52522001
Degenerative disorder of eye 62585004
Disorder of brain 81308009
Degenerative disease of the central nervous system 80690008
Hereditary disorder by system 363137000
Disorder of anterior segment of eye 128535002
Anomaly of eye 11131000119108
Corneal finding 246924004
Finding of spinal cord 299733008
Disorder of spinal region 410730009
Hereditary disease 32895009
Disorder of the central nervous system 23853001
Disorder of eye 371405004
Finding of brain 299718000
Degenerative disorder 362975008
Anterior segment finding 418727003
Finding of spinal region 298379008
Disorder of back 33308003
Disorder of nervous system 118940003
Genetic disease 782964007
Disorder of sensory organ 1279550006
Central nervous system finding 246556002
Globe finding 246915008
Disorder of eye region 371409005
Finding of back 414252009
Visual system disorder 128127008
Disorder of head 118934005
Finding of head region 298364001
Disorder of body system 362965005
Eye / vision finding 118235002
Head finding 406122000
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

Hereditary ataxia 763597000

Spinocerebellar ataxia 129609000

Corneal cerebellar syndrome 720750004

SNOMED CT code