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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Joubert syndrome with oculorenal defect (disorder) | Is a | Retinal disorder | true | Inferred relationship | Some | ||
| Joubert syndrome with oculorenal defect (disorder) | Is a | Nephronophthisis | true | Inferred relationship | Some | ||
| Joubert syndrome with oculorenal defect (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Joubert syndrome with oculorenal defect (disorder) | Is a | Joubert syndrome (disorder) | true | Inferred relationship | Some | ||
| Joubert syndrome with oculorenal defect (disorder) | Is a | Hereditary nephropathy (disorder) | false | Inferred relationship | Some | ||
| Joubert syndrome with oculorenal defect (disorder) | Finding site | Retinal structure | false | Inferred relationship | Some | ||
| Joubert syndrome with oculorenal defect (disorder) | Associated morphology | Aplasia | true | Inferred relationship | Some | 3 | |
| Joubert syndrome with oculorenal defect (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Joubert syndrome with oculorenal defect (disorder) | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 3 | |
| Joubert syndrome with oculorenal defect (disorder) | Associated morphology | Fibrocystic change | false | Inferred relationship | Some | 3 | |
| Joubert syndrome with oculorenal defect (disorder) | Finding site | Structure of medulla of kidney | false | Inferred relationship | Some | 3 | |
| Joubert syndrome with oculorenal defect (disorder) | Associated morphology | Aplasia | false | Inferred relationship | Some | 4 | |
| Joubert syndrome with oculorenal defect (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Joubert syndrome with oculorenal defect (disorder) | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 4 | |
| Joubert syndrome with oculorenal defect (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Joubert syndrome with oculorenal defect (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Joubert syndrome with oculorenal defect (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Joubert syndrome with oculorenal defect (disorder) | Finding site | Structure of medulla of kidney | true | Inferred relationship | Some | 1 | |
| Joubert syndrome with oculorenal defect (disorder) | Associated morphology | Fibrocystic change | true | Inferred relationship | Some | 1 | |
| Joubert syndrome with oculorenal defect (disorder) | Finding site | Retinal structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR