Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3311425013 | 8p inverted duplication deletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311426014 | 8p inverted duplication deletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311427017 | A rare chromosomal anomaly with clinical manifestations of mild to severe intellectual deficit, severe developmental delay, hypotonia with tendency to develop progressive hypertonia over time, minor facial anomalies and agenesis of the corpus callosum. Thirty to fifty percent of individuals have autism. An inverted duplication with a terminal deletion of the short arm of chromosome 8 mostly occurs as either an inverted duplication from centromere to D8S552 with a pter deletion from D8S349 or as an inverted duplication from 8p11.2 or 8p21 to D8S552, with a telomeric deletion from D8349. The input of the 8p deletion to the clinical picture appears less significant than the 8p inversion duplication rearrangement. To date, all invdupdel(8p) have occurred de novo. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 8p inverted duplication deletion syndrome (disorder) | Is a | Anomaly of chromosome pair 8 | true | Inferred relationship | Some | ||
| 8p inverted duplication deletion syndrome (disorder) | Is a | Duplication of chromosome | true | Inferred relationship | Some | ||
| 8p inverted duplication deletion syndrome (disorder) | Associated morphology | Alteration of chromosome structure | true | Inferred relationship | Some | 1 | |
| 8p inverted duplication deletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 8p inverted duplication deletion syndrome (disorder) | Finding site | Chromosome pair 8 | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR