Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3323635016 | Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3323636015 | Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3323637012 | Grange syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3323638019 | Grange occlusive arterial syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3323639010 | Grange syndrome has characteristics of stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. So far, the syndrome has been reported in six patients from three families. Congenital heart defects were also reported in some cases. The mode of transmission remains unclear, both autosomal recessive and autosomal dominant inheritance with decreased penetrance and parental gonadal mosaicism have been proposed. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Grange syndrome | Is a | Inherited disorder of connective tissue | true | Inferred relationship | Some | ||
Grange syndrome | Is a | Hereditary dysplasia of blood vessel | true | Inferred relationship | Some | ||
Grange syndrome | Finding site | Connective tissue structure | true | Inferred relationship | Some | 1 | |
Grange syndrome | Finding site | Blood vessel structure | true | Inferred relationship | Some | 2 |
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