Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3317088013 | 1p21.3 microdeletion syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3317090014 | 1p21.3 microdeletion syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3317106013 | Monosomy 1p21.3 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3317107016 | An extremely rare chromosomal anomaly with characteristics of severe speech and language delay, intellectual deficiency, autism spectrum disorder. Less than 10 cases have been reported to date. The syndrome is caused by a hemizygous interstitial microdeletion on the short arm of chromosome 1, occurring mostly de novo, that implicates DPYD (dihydropyrimidine dehydrogenase) and MIR137 genes associated with miRNA pathways. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health clinical finding reference set
Queensland allied health indicator for intervention reference set
Clinical finding foundation reference set
Mental health disorder reference set
Problem/Diagnosis reference set