FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

721862000: Joubert syndrome with oculorenal defect (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3326296018 Joubert syndrome with oculorenal defect (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326297010 Joubert syndrome with oculorenal defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326298017 Arima syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326299013 Cerebello-oculo-renal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402714011 A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402715012 A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterised by the neurological features of JS associated with both renal and ocular disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326296018 Joubert syndrome with oculorenal defect (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326297010 Joubert syndrome with oculorenal defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326298017 Arima syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326299013 Cerebello-oculo-renal syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3326299013 Cerebello-oculo-renal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326270015 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. Patient’s present 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5402714011 A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402715012 A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterised by the neurological features of JS associated with both renal and ocular disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
601911000274116 Arima-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3431701001000113 Joubert-Syndrom mit okulo-renalem Defekt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
903281000172112 CORS - cerebellooculorenal syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
967351000172117 syndrome de Joubert avec atteinte oculo-rénale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
903281000172112 CORS - cerebellooculorenal syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
967351000172117 syndrome de Joubert avec atteinte oculo-rénale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601911000274116 Arima-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3431701001000113 Joubert-Syndrom mit okulo-renalem Defekt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Joubert syndrome with oculorenal defect (disorder) Is a Retinal disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with oculorenal defect (disorder) Is a Nephronophthisis true Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with oculorenal defect (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with oculorenal defect (disorder) Is a Joubert syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with oculorenal defect (disorder) Is a Hereditary nephropathy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with oculorenal defect (disorder) Finding site Retinal structure false Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with oculorenal defect (disorder) Associated morphology Aplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Joubert syndrome with oculorenal defect (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Joubert syndrome with oculorenal defect (disorder) Finding site Cerebellar vermis structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Joubert syndrome with oculorenal defect (disorder) Associated morphology Fibrocystic change false Inferred relationship Existential restriction modifier (core metadata concept) 3
Joubert syndrome with oculorenal defect (disorder) Finding site Structure of medulla of kidney false Inferred relationship Existential restriction modifier (core metadata concept) 3
Joubert syndrome with oculorenal defect (disorder) Associated morphology Aplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Joubert syndrome with oculorenal defect (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Joubert syndrome with oculorenal defect (disorder) Finding site Cerebellar vermis structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Joubert syndrome with oculorenal defect (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Joubert syndrome with oculorenal defect (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Joubert syndrome with oculorenal defect (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Joubert syndrome with oculorenal defect (disorder) Finding site Structure of medulla of kidney true Inferred relationship Existential restriction modifier (core metadata concept) 1
Joubert syndrome with oculorenal defect (disorder) Associated morphology Fibrocystic change true Inferred relationship Existential restriction modifier (core metadata concept) 1
Joubert syndrome with oculorenal defect (disorder) Finding site Retinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start