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 |
| 3323635016 | Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323636015 | Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323637012 | Grange syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323638019 | Grange occlusive arterial syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3907121000052113 | Granges syndrom | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder) | Is a | Hereditary dysplasia of blood vessel (disorder) | true | Inferred relationship | Some | ||
| Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder) | Finding site | Connective tissue structure | true | Inferred relationship | Some | 1 | |
| Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder) | Finding site | Blood vessel structure (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR