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 |
| 3307197016 | The syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. Only five patients have been reported to date. All patients have behavioral disorders suggesting that some of the genes within the duplication interval may be candidates for the autistic spectrum. Intellectual skills range from normal to mild intellectual deficiency. Other features are variable with no striking common phenotypic features. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3307198014 | The syndrome is associated with a broad clinical spectrum, of which behavioural disorders and poor social interaction seem to be the most consistent. Only five patients have been reported to date. All patients have behavioural disorders suggesting that some of the genes within the duplication interval may be candidates for the autistic spectrum. Intellectual skills range from normal to mild intellectual deficiency. Other features are variable with no striking common phenotypic features. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401358012 | The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401359016 | The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioural disorders and poor social interaction seem to be the most consistent. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3307195012 | 17q21.31 microduplication syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3307196013 | 17q21.31 microduplication syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3307199018 | Trisomy 17q21.31 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. | Is a | 17q partial trisomy syndrome | true | Inferred relationship | Some | ||
| The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. | Finding site | Chromosome pair 17 | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR