Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
3428521014 | Rambaud Gallian syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3428522019 | Rambaud Gallian Touchard syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3428523012 | Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3428524018 | Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | en | Synonym | Active | Case insensitive | 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 | Case sensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | Is a | Cerebral calcification | true | Inferred relationship | Some | ||
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | Is a | Retinal ischaemia | true | Inferred relationship | Some | ||
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | Is a | Vascular degeneration | true | Inferred relationship | Some | ||
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | Finding site | Retinal structure | true | Inferred relationship | Some | 2 | |
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | Associated morphology | Hyaline degeneration | true | Inferred relationship | Some | 4 | |
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | Finding site | Structure of small blood vessel (organ) | true | Inferred relationship | Some | 4 | |
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | Associated morphology | Pathologic calcification | true | Inferred relationship | Some | 5 | |
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome | Finding site | Structure of cerebrum | true | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set