Joubert syndrome with ocular defect 716998009

SNOMED CT code

SNOMED code

716998009

name

Joubert syndrome with ocular defect

status

active

date introduced

2016-07-31

fully specified name(s)

Joubert syndrome with ocular defect (disorder)

synonyms

Joubert syndrome with ocular defect
Joubert syndrome with retinopathy

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Aplasia 45486003

Finding site

Cerebellar vermis structure 58501004

Occurrence

Congenital 255399007

attributes - group2

Finding site

Retinal structure 5665001

parents

Retinal disorder 29555009
Hereditary disorder of the visual system 363343008
Joubert syndrome 716997004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Globe finding 246915008
Retina finding 399858007
Retinal disorder 29555009
Joubert syndrome with ocular defect 716998009

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Visual system disorder 128127008
Hereditary disorder of the visual system 363343008
Joubert syndrome with ocular defect 716998009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Joubert syndrome 716997004
Joubert syndrome with ocular defect 716998009

ancestors

sorted most to least specific

Retinal disorder 29555009
Hereditary disorder of the visual system 363343008
Joubert syndrome 716997004
Disorder of vitreous body and retina 312771007
Familial aplasia of the vermis 253175003
Retina finding 399858007
Developmental hereditary disorder 363070008
Hereditary disorder of nervous system 363235000
Autosomal recessive hereditary disorder 85995004
Disorder of posterior segment of eye 128536001
Aplasia of the vermis 253174004
Hereditary disorder by system 363137000
Autosomal hereditary disorder 1899006
Disorder of eye 371405004
Aplasia of cerebellum 204049003
Hereditary disease 32895009
Absence of the vermis 253177006
Disorder of sensory organ 1279550006
Dysgenesis of the cerebellum 253171007
Globe finding 246915008
Disorder of eye region 371409005
Genetic disease 782964007
Congenital absence of part of brain 26595007
Congenital brain aplasia 702611008
Visual system disorder 128127008
Cerebellar disorder 223176004
Anencephalus 89369001
Finding of head region 298364001
Eye / vision finding 118235002
Congenital anomaly of brain 57148006
Amyelencephalus 75076004
Disorder of brain 81308009
Congenital anomaly of central nervous system 128124001
Congenital anomaly of head 87290003
Disorder of head 118934005
Disorder of the central nervous system 23853001
Finding of brain 299718000
Congenital anomaly of nervous system 88425004
Head finding 406122000
Disorder of nervous system 118940003
Central nervous system finding 246556002
Congenital malformation 276654001
Finding of head and neck region 118254002
Disorder of body system 362965005
Developmental disorder 5294002
Congenital disease 66091009
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Eye / vision finding 118235002

Globe finding 246915008

Retina finding 399858007

Retinal disorder 29555009

Joubert syndrome with ocular defect 716998009

SNOMED CT code