Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3645133013 | Spondyloepimetaphyseal dysplasia Handigodu type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3645134019 | Spondyloepimetaphyseal dysplasia Handigodu type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4304323016 | A rare genetic primary bone dysplasia with characteristics of three distinct phenotypes, namely: 1.Patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2.Short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly, and 3.Patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances and many have decreased joint spaces and sclerotic and cystic changes on imaging. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spondyloepimetaphyseal dysplasia Handigodu type | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Spondyloepimetaphyseal dysplasia Handigodu type | Is a | Spondyloepimetaphyseal disorder | true | Inferred relationship | Some | ||
| Spondyloepimetaphyseal dysplasia Handigodu type | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Spondyloepimetaphyseal dysplasia Handigodu type | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Spondyloepimetaphyseal dysplasia Handigodu type | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Spondyloepimetaphyseal dysplasia Handigodu type | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Spondyloepimetaphyseal dysplasia Handigodu type | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Spondyloepimetaphyseal dysplasia Handigodu type | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Spondyloepimetaphyseal dysplasia Handigodu type | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Spondyloepimetaphyseal dysplasia Handigodu type | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Spondyloepimetaphyseal dysplasia Handigodu type | Interprets | Height / growth measure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR