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 |
| 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 |
| 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 |
This concept is not in any reference sets
FHIR