Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3736398017 | Perinatal lethal bent bone dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3736399013 | Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3736400018 | Fibroblast growth factor receptor 2-related bent bone dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3736401019 | FGFR2-related bent bone dysplasia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3736402014 | A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3736403016 | A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralisation of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Is a | Congenital anomaly of bone and joint | true | Inferred relationship | Some | ||
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Is a | Craniosynostosis syndrome | true | Inferred relationship | Some | ||
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Is a | Bent bone dysplasia group | true | Inferred relationship | Some | ||
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Finding site | Joint structure of suture of skull | true | Inferred relationship | Some | 2 | |
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 2 | |
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Finding site | Bone structure of cranium | false | Inferred relationship | Some | ||
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Associated morphology | Premature fusion | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR