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 |
| 752131000241116 | syndrome de duplication/délétion inversée 8p (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 937231000172111 | invdupdel(8p) - syndrome de duplication/délétion inversée 8p | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 941891000172117 | syndrome de duplication/délétion inversée 8p | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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) | est un(e) (attribut) | anomalie du chromosome 8 (trouble) | true | Inferred relationship | Some | ||
| 8p inverted duplication deletion syndrome (disorder) | est un(e) (attribut) | Duplication of chromosome | true | Inferred relationship | Some | ||
| 8p inverted duplication deletion syndrome (disorder) | morphologie associée (attribut) | Alteration of chromosome structure | true | Inferred relationship | Some | 1 | |
| 8p inverted duplication deletion syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| 8p inverted duplication deletion syndrome (disorder) | localisation d'une constatation (attribut) | Chromosome pair 8 (cell structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR