Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3499601015 | Distal 16p11.2 microdeletion syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3499602010 | Distal 16p11.2 microdeletion syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3499603017 | Distal monosomy 16p11.2 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3500027019 | A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16. The disease has a highly variable phenotype with typical characteristics of developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set