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 |
| 3498656013 | Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498657016 | OSLAM (osteosarcoma, limb anomalies, erythroid macrocytosis) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3498658014 | Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498659018 | OSLAM syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403701016 | A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403702011 | A rare genetic disease characterised by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anaemia. There have been no further descriptions in the literature since 1977. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Is a | Congenital anomaly of limb | true | Inferred relationship | Some | ||
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Is a | Macrocytosis - no anemia | true | Inferred relationship | Some | ||
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Is a | Osteosarcoma of bone | true | Inferred relationship | Some | ||
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Is a | Hereditary red blood cell disorder (disorder) | true | Inferred relationship | Some | ||
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Associated morphology | Osteosarcoma, no International Classification of Diseases for Oncology subtype | false | Inferred relationship | Some | 3 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Finding site | Bone structure | true | Inferred relationship | Some | 3 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 5 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Finding site | Limb structure | false | Inferred relationship | Some | 5 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Associated morphology | Osteosarcoma, no International Classification of Diseases for Oncology subtype | false | Inferred relationship | Some | 4 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Finding site | Bone structure | false | Inferred relationship | Some | 4 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Finding site | Erythrocyte | false | Inferred relationship | Some | 3 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Finding site | Limb structure | true | Inferred relationship | Some | 2 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Finding site | Erythrocyte | true | Inferred relationship | Some | 1 | |
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Is a | Disorder of bone development (disorder) | false | Inferred relationship | Some | ||
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome | Associated morphology | Osteosarcoma (morphologic abnormality) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR