Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3330822017 | Pacman dysplasia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330823010 | Pacman dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330824016 | Epiphyseal stippling with osteoclastic hyperplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330825015 | Pacman dysplasia has characteristics of epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. The syndrome may be inherited as an autosomal recessive trait. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 944931000172114 | dysplasie de Pacman | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 955811000172112 | syndrome épiphyses ponctuées, hyperplasie ostéoclastique | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 929491000172115 | Pacman-dysplasie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 936661000172117 | epifysair stippeling-syndroom, osteoclastische hyperplasie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Pacman dysplasia (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Pacman dysplasia (disorder) | Is a | Osteolysis | true | Inferred relationship | Some | ||
| Pacman dysplasia (disorder) | Is a | Congenital connective tissue disorder | false | Inferred relationship | Some | ||
| Pacman dysplasia (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Pacman dysplasia (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Pacman dysplasia (disorder) | Associated morphology | Osteolysis (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Pacman dysplasia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Pacman dysplasia (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Pacman dysplasia (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR