Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3755079010 | 10q22.3q23.3 microduplication syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3755080013 | 10q22.3q23.3 microduplication syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3755081012 | Trisomy 10q22.3q23.3 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3755082017 | A rare chromosomal anomaly with characteristics of variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
10q22.3q23.3 microduplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
10q22.3q23.3 microduplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 | |
10q22.3q23.3 microduplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
10q22.3q23.3 microduplication syndrome (disorder) | Is a | 10q partial trisomy syndrome | true | Inferred relationship | Some | ||
10q22.3q23.3 microduplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
10q22.3q23.3 microduplication syndrome (disorder) | Finding site | Chromosome pair 10 (cell structure) | true | Inferred relationship | Some | 2 | |
10q22.3q23.3 microduplication syndrome (disorder) | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets