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 |
| 3464733011 | Bone dysplasia lethal Holmgren type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3464734017 | Bone dysplasia lethal Holmgren type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3464735016 | Autosomal recessive lethal chondrodysplasia round femoral inferior epiphysis type | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3464736015 | A lethal bone dysplasia with characteristics of low birth weight, rhizomelic dwarfism, bent femora and short chest producing asphyxia. The disease has been described in three siblings from healthy, non-consanguineous parents of Finnish origin and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. There has been no further description of this disease in the literature since 1988. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3949211000052111 | letal diastrofisk dysplasi | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Bone dysplasia lethal Holmgren type (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Bone dysplasia lethal Holmgren type (disorder) | Is a | Chondrodysplasia (disorder) | true | Inferred relationship | Some | ||
| Bone dysplasia lethal Holmgren type (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Bone dysplasia lethal Holmgren type (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Bone dysplasia lethal Holmgren type (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 2 | |
| Bone dysplasia lethal Holmgren type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Bone dysplasia lethal Holmgren type (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 2 | |
| Bone dysplasia lethal Holmgren type (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 1 | |
| Bone dysplasia lethal Holmgren type (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Bone dysplasia lethal Holmgren type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Bone dysplasia lethal Holmgren type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Bone dysplasia lethal Holmgren type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Bone dysplasia lethal Holmgren type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR