Status: current. Date: 30-Jan 2019
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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405613019 | A rare chromosomal anomaly characterized by 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 |
| 5405614013 | A rare chromosomal anomaly characterised by 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 3q26 microduplication syndrome | Occurrence | Congenital | true | SNOMED RT Concept | SNOMED RT Concept | 1 | |
| 3q26 microduplication syndrome | Is a | Partial trisomy of chromosome 3 | true | SNOMED RT Concept | SNOMED RT Concept | ||
| 3q26 microduplication syndrome | Associated morphology | Partial trisomy | true | SNOMED RT Concept | SNOMED RT Concept | 1 | |
| 3q26 microduplication syndrome | Finding site | Long arm of chromosome | true | SNOMED RT Concept | SNOMED RT Concept | 1 | |
| 3q26 microduplication syndrome | Associated morphology | Partial trisomy | true | SNOMED RT Concept | SNOMED RT Concept | 2 | |
| 3q26 microduplication syndrome | Occurrence | Congenital | true | SNOMED RT Concept | SNOMED RT Concept | 2 | |
| 3q26 microduplication syndrome | Finding site | Chromosome pair 3 | true | SNOMED RT Concept | SNOMED RT Concept | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR