Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3644757012 | SOLAMEN syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3644801011 | Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3644802016 | Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3644803014 | Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5404250016 | A rare developmental defect during embryogenesis characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404251017 | A rare developmental defect during embryogenesis characterised by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal naevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Is a | Epidermal nevus | true | Inferred relationship | Some | ||
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Is a | Hereditary disorder of lymphatic system (disorder) | true | Inferred relationship | Some | ||
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Is a | Congenital vascular malformation (disorder) | true | Inferred relationship | Some | ||
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Is a | Lipomatosis (disorder) | true | Inferred relationship | Some | ||
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Is a | PTEN hamartoma tumor syndrome (disorder) | true | Inferred relationship | Some | ||
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Associated morphology | Epidermal nevus | true | Inferred relationship | Some | 4 | |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 4 | |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Finding site | Blood vessel structure (body structure) | true | Inferred relationship | Some | 3 | |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Finding site | Structure of lymphatic system (body structure) | true | Inferred relationship | Some | 1 | |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Associated morphology | Lipomatosis | true | Inferred relationship | Some | 2 | |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR