Joubert syndrome with oculorenal defect 721862000

SNOMED CT code

SNOMED code

721862000

name

Joubert syndrome with oculorenal defect

status

active

date introduced

2017-01-31

fully specified name(s)

Joubert syndrome with oculorenal defect (disorder)

synonyms

Joubert syndrome with oculorenal defect
Arima syndrome
Cerebello-oculo-renal syndrome

attributes - group3

Pathological process

Pathological developmental process 308490002

Associated morphology

Aplasia 45486003

Occurrence

Congenital 255399007

Finding site

Cerebellar vermis structure 58501004

attributes - group1

Pathological process

Pathological developmental process 308490002

Finding site

Structure of medulla of kidney 30737000

Associated morphology

Fibrocystic change 367647000

attributes - group2

Pathological process

Pathological developmental process 308490002

Finding site

Retinal structure 5665001

parents

Nephronophthisis 204958008
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
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Nephronophthisis 204958008
Joubert syndrome with oculorenal defect 721862000

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Globe finding 246915008
Retina finding 399858007
Retinal disorder 29555009
Joubert syndrome with oculorenal defect 721862000

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 oculorenal defect 721862000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Joubert syndrome 716997004
Joubert syndrome with oculorenal defect 721862000

ancestors

sorted most to least specific

Nephronophthisis 204958008
Retinal disorder 29555009
Hereditary disorder of the visual system 363343008
Joubert syndrome 716997004
Nephronophthisis - medullary cystic disease 253882001
Disorder of vitreous body and retina 312771007
Familial aplasia of the vermis 253175003
Hereditary nephropathy 367591000119105
Autosomal recessive hereditary disorder 85995004
Retina finding 399858007
Developmental hereditary disorder 363070008
Hereditary disorder of nervous system 363235000
Medullary cystic disease of the kidney 204957003
Disorder of posterior segment of eye 128536001
Aplasia of the vermis 253174004
Hereditary disorder of the urinary system 363338001
Autosomal hereditary disorder 1899006
Renal fibrosis 197660000
Disorder of eye 371405004
Aplasia of cerebellum 204049003
Cyst of kidney 722223000
Disorder of renal parenchyma 767094002
Hereditary disorder by system 363137000
Absence of the vermis 253177006
Kidney lesion 79131000119100
Disorder of sensory organ 1279550006
Dysgenesis of the cerebellum 253171007
Hereditary disease 32895009
Retroperitoneal cyst 236011003
Globe finding 246915008
Disorder of eye region 371409005
Congenital absence of part of brain 26595007
Congenital brain aplasia 702611008
Renal mass 309088003
Kidney disease 90708001
Visual system disorder 128127008
Cerebellar disorder 223176004
Genetic disease 782964007
Cyst of abdomen 446064000
Anencephalus 89369001
Retroperitoneal mass 69559004
Finding of head region 298364001
Mass of urinary tract structure 300857009
Kidney finding 249578005
Eye / vision finding 118235002
Disorder of kidney and/or ureter 443820000
Disorder of retroperitoneum 734045002
Congenital anomaly of brain 57148006
Abdominal mass 271860004
Cyst 441457006
Amyelencephalus 75076004
Mass of urogenital structure 300856000
Disorder of brain 81308009
Disorder of the urinary system 128606002
Disorder of abdomen 118948005
Abdominal organ finding 249561001
Congenital anomaly of central nervous system 128124001
Mass of trunk 309524007
Congenital anomaly of head 87290003
Urinary system finding 106098005
Disorder of head 118934005
Finding of abdomen 609624008
Viscus structure finding 406123005
Disorder of the central nervous system 23853001
Finding of brain 299718000
Disorder of the genitourinary system 42030000
Mass of body region 300862005
Congenital anomaly of nervous system 88425004
Urogenital finding 118238000
Head finding 406122000
Disorder of nervous system 118940003
Central nervous system finding 246556002
Mass of body structure 300848003
Disorder of abdominopelvic segment of trunk 822988000
Congenital malformation 276654001
Finding of abdominopelvic segment of trunk 822987005
Finding of head and neck region 118254002
Disorder of body system 362965005
Disorder of trunk 128121009
Developmental disorder 5294002
Congenital disease 66091009
Finding of trunk structure 302292003
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Genetic disease 782964007

Hereditary disease 32895009

Autosomal hereditary disorder 1899006

Autosomal recessive hereditary disorder 85995004

Nephronophthisis 204958008

Joubert syndrome with oculorenal defect 721862000

SNOMED CT code