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 |
5403195011 | A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature graying of the hair may be additionally observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403196012 | A rare systemic disease characterised by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhoea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid haemorrhage. Poikiloderma and premature greying of the hair may be additionally observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)