721862000: Joubert syndrome with oculorenal defect (disorder)

Id Description Lang Type Status Case? Module

3326296018 Joubert syndrome with oculorenal defect (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3326297010 Joubert syndrome with oculorenal defect en Synonym Active Case sensitive SNOMED CT core

3326298017 Arima syndrome en Synonym Active Case sensitive SNOMED CT core

3326299013 Cerebello-oculo-renal syndrome en Synonym Active Case insensitive SNOMED CT core

4361468017 A rare subtype of Joubert syndrome and related disorders with characteristics of the neurological features of Joubert syndrome associated with both renal and ocular disease. Prevalence is unknown. The patient presents with retinal involvement (manifesting with either Leber congenital amaurosis or progressive retinal dystrophy) and nephronophthisis (usually juvenile). Retinal involvement is present at birth or may manifest later in life. Juvenile nephronophthisis usually becomes clinically symptomatic towards the late first decade or the early second decade of life. About 50% of patients carry mutations in the CEP290 gene (12q21.33), the syndrome is transmitted in an autosomal recessive manner. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Joubert syndrome with oculorenal defect	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Joubert syndrome with oculorenal defect	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Joubert syndrome with oculorenal defect	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Joubert syndrome with oculorenal defect	Finding site	Structure of medulla of kidney	true	Inferred relationship	Some	1
Joubert syndrome with oculorenal defect	Associated morphology	Fibrocystic change	true	Inferred relationship	Some	1
Joubert syndrome with oculorenal defect	Finding site	Retinal structure	true	Inferred relationship	Some	2
Joubert syndrome with oculorenal defect	Is a	Retinal disorder	true	Inferred relationship	Some
Joubert syndrome with oculorenal defect	Is a	Nephronophthisis	true	Inferred relationship	Some
Joubert syndrome with oculorenal defect	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Joubert syndrome with oculorenal defect	Is a	Joubert syndrome	true	Inferred relationship	Some
Joubert syndrome with oculorenal defect	Is a	Hereditary nephropathy	false	Inferred relationship	Some
Joubert syndrome with oculorenal defect	Finding site	Retinal structure	false	Inferred relationship	Some
Joubert syndrome with oculorenal defect	Associated morphology	Aplasia	true	Inferred relationship	Some	3
Joubert syndrome with oculorenal defect	Occurrence	Congenital	true	Inferred relationship	Some	3
Joubert syndrome with oculorenal defect	Finding site	Cerebellar vermis structure	true	Inferred relationship	Some	3
Joubert syndrome with oculorenal defect	Associated morphology	Fibrocystic change	false	Inferred relationship	Some	3
Joubert syndrome with oculorenal defect	Finding site	Structure of medulla of kidney	false	Inferred relationship	Some	3
Joubert syndrome with oculorenal defect	Associated morphology	Aplasia	false	Inferred relationship	Some	4
Joubert syndrome with oculorenal defect	Occurrence	Congenital	false	Inferred relationship	Some	4
Joubert syndrome with oculorenal defect	Finding site	Cerebellar vermis structure	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3326296018	Joubert syndrome with oculorenal defect (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3326297010	Joubert syndrome with oculorenal defect	en	Synonym	Active	Case sensitive	SNOMED CT core
3326298017	Arima syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3326299013	Cerebello-oculo-renal syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4361468017	A rare subtype of Joubert syndrome and related disorders with characteristics of the neurological features of Joubert syndrome associated with both renal and ocular disease. Prevalence is unknown. The patient presents with retinal involvement (manifesting with either Leber congenital amaurosis or progressive retinal dystrophy) and nephronophthisis (usually juvenile). Retinal involvement is present at birth or may manifest later in life. Juvenile nephronophthisis usually becomes clinically symptomatic towards the late first decade or the early second decade of life. About 50% of patients carry mutations in the CEP290 gene (12q21.33), the syndrome is transmitted in an autosomal recessive manner.	en	Definition	Active	Case sensitive	SNOMED CT core