Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3428520010 | Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3428521014 | Rambaud Gallian syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3428522019 | Rambaud Gallian Touchard syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3428523012 | Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3428524018 | Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3428525017 | Syndrome that is characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract and kidneys and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikiloderma and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3428526016 | Syndrome that is characterised by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract and kidneys and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikiloderma and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid haemorrhage. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 977391000172116 | syndrome de rétinopathie ischémique-hyalinose digestive-calcifications cérébrales diffuses | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 985831000172112 | syndrome de Rambaud-Gallian | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) | Is a | Cerebral calcification | true | Inferred relationship | Some | ||
| Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) | Is a | Retinal ischemia | true | Inferred relationship | Some | ||
| Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) | Is a | Vascular degeneration | true | Inferred relationship | Some | ||
| Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) | Finding site | Retinal structure | true | Inferred relationship | Some | 2 | |
| Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) | Associated morphology | Hyaline degeneration | true | Inferred relationship | Some | 4 | |
| Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) | Finding site | Structure of small blood vessel (organ) | true | Inferred relationship | Some | 4 | |
| Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) | Associated morphology | Pathologic calcification | true | Inferred relationship | Some | 5 | |
| Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 5 | |
| Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR