Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3737638017 | 3q26 microduplication syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3737639013 | Trisomy 3q26 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3737640010 | 3q26 microduplication syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3737641014 | A rare chromosomal anomaly with characteristics of prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4225601000052110 | 3q26-mikroduplikationssyndromet | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
3q26 microduplication syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
3q26 microduplication syndrome | Is a | Partial trisomy of chromosome 3 | true | Inferred relationship | Some | ||
3q26 microduplication syndrome | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
3q26 microduplication syndrome | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 1 | |
3q26 microduplication syndrome | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 | |
3q26 microduplication syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
3q26 microduplication syndrome | Finding site | Chromosome pair 3 | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets