Status: current, Primitive. 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 | Initial character case insensitive | SNOMED CT core |
3755080013 | 10q22.3q23.3 microduplication syndrome | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3755081012 | Trisomy 10q22.3q23.3 | en | Synonym | Active | Initial character case insensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
10q22.3q23.3 microduplication syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
10q22.3q23.3 microduplication syndrome | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 | |
10q22.3q23.3 microduplication syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
10q22.3q23.3 microduplication syndrome | Is a | 10q partial trisomy syndrome | true | Inferred relationship | Some | ||
10q22.3q23.3 microduplication syndrome | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
10q22.3q23.3 microduplication syndrome | Finding site | Chromosome pair 10 | true | Inferred relationship | Some | 2 | |
10q22.3q23.3 microduplication syndrome | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set