Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3737638017 | 3q26 microduplication syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3737639013 | Trisomy 3q26 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3737640010 | 3q26 microduplication syndrome (disorder) | en | Fully specified name | Active | Case insensitive | 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 | Case sensitive | SNOMED CT core |
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 |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set