Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5063476015 | Complex lethal osteochondrodysplasia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5063477012 | Complex lethal osteochondrodysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5063478019 | Complex lethal osteochondrodysplasia Symoens Barnes Gistelinck type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5063479010 | A rare genetic primary bone dysplasia with decreased bone density with characteristics of fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs and kidneys have also been associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5063480013 | A rare genetic primary bone dysplasia with decreased bone density with characteristics of fetal lethality, severe hypomineralisation of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs and kidneys have also been associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Complex lethal osteochondrodysplasia (disorder) | Is a | Osteochondrodysplasia syndrome | true | Inferred relationship | Some | ||
| Complex lethal osteochondrodysplasia (disorder) | Is a | Dysplasia with decreased bone density | true | Inferred relationship | Some | ||
| Complex lethal osteochondrodysplasia (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Complex lethal osteochondrodysplasia (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Complex lethal osteochondrodysplasia (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Complex lethal osteochondrodysplasia (disorder) | Interprets | Bone density scan | true | Inferred relationship | Some | 2 | |
| Complex lethal osteochondrodysplasia (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| Complex lethal osteochondrodysplasia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Complex lethal osteochondrodysplasia (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Complex lethal osteochondrodysplasia (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Complex lethal osteochondrodysplasia (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR