Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4694534014 | Osteogenesis imperfecta type IIC (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4694535010 | Osteogenesis imperfecta type IIC | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4694537019 | Lethal osteogenesis imperfecta with thin long bones and thin and beaded ribs | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4694536011 | Osteogenesis imperfecta type IIC presents with varying thickness of the ribs, discontinuous beading of the ribs, malformed scapula and ischia, and long bones with thin shafts and expanded metaphyses. Type IIC is extremely rare. Appearances have been reported in fetuses with mutations in the MESD gene (15q25). The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Osteogenesis imperfecta type IIC (disorder) | est un(e) (attribut) | Osteogenesis imperfecta, perinatal lethal | true | Inferred relationship | Some | ||
| Osteogenesis imperfecta type IIC (disorder) | interprète (attribut) | Bone formation, function (observable entity) | true | Inferred relationship | Some | 2 | |
| Osteogenesis imperfecta type IIC (disorder) | a pour interprétation (attribut) | anormal | true | Inferred relationship | Some | 2 | |
| Osteogenesis imperfecta type IIC (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Osteogenesis imperfecta type IIC (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
| Osteogenesis imperfecta type IIC (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| Osteogenesis imperfecta type IIC (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