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 |
| 3316817019 | 17p13.3 microduplication syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316818012 | 17p13.3 microduplication syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316819016 | Trisomy 17p13.3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 754481000241119 | syndrome de microduplication 17p13.3 (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 944831000172119 | syndrome de microduplication 17p13.3 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 980651000172112 | dup(17)(p13.3) | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3316820010 | This syndrome has characteristics of variable psychomotor delay and dysmorphic features. It has been recently described in less than ten patients. Clinical presentation is variable but it is possible to delineate a common clinical spectrum comprising mild to moderate psychomotor delay, hypotonia and discrete craniofacial dysmorphic features including a high forehead with frontal bossing, a small nose and a small mouth. The microduplication encompasses the same region that is deleted in Miller-Dieker (17p13 deletion) syndrome. The variable size of this de novo duplication indicates that mechanisms other than nonallelic homologous recombination may be responsible. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 17p13.3 microduplication syndrome (disorder) | est un(e) (attribut) | 17p partial trisomy syndrome (disorder) | true | Inferred relationship | Some | ||
| 17p13.3 microduplication syndrome (disorder) | morphologie associée (attribut) | Partial trisomy | true | Inferred relationship | Some | 1 | |
| 17p13.3 microduplication syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| 17p13.3 microduplication syndrome (disorder) | localisation d'une constatation (attribut) | Chromosome pair 17 (cell structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR