Biallelic RPE65 mutation associated retinal dystrophy 764969006

SNOMED CT code

SNOMED code

764969006

name

Biallelic RPE65 mutation associated retinal dystrophy

status

active

date introduced

2018-07-31

fully specified name(s)

Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder)

synonyms

Biallelic RPE65 mutation associated retinal dystrophy
Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy

attributes - group1

Associated morphology

Dystrophy 4720007

Occurrence

Congenital 255399007

Finding site

Retinal structure 5665001

parents

Congenital disease 66091009
Hereditary retinal dystrophy primarily involving retinal pigment epithelium 698847000

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Biallelic RPE65 mutation associated retinal dystrophy 764969006

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Visual system disorder 128127008
Hereditary disorder of the visual system 363343008
Hereditary retinal dystrophy 41799005
Hereditary retinal dystrophy primarily involving retinal pigment epithelium 698847000
Biallelic RPE65 mutation associated retinal dystrophy 764969006

ancestors

sorted most to least specific

Congenital disease 66091009
Hereditary retinal dystrophy primarily involving retinal pigment epithelium 698847000
Hereditary retinal dystrophy 41799005
Retinal dystrophy 314407005
Hereditary disorder of the visual system 363343008
Degeneration of retina 95695004
Hereditary disorder by system 363137000
Retinal disorder 29555009
Degenerative disorder of eye 62585004
Hereditary disease 32895009
Disorder of vitreous body and retina 312771007
Anomaly of eye 11131000119108
Retina finding 399858007
Genetic disease 782964007
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
Visual system disorder 128127008
Disorder of head 118934005
Finding of head region 298364001
Eye / vision finding 118235002
Head finding 406122000
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

Disease 64572001

Congenital disease 66091009

Biallelic RPE65 mutation associated retinal dystrophy 764969006

SNOMED CT code