Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3317293016 | 6q25 microdeletion syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3317294010 | 6q25 microdeletion syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3317295011 | Monosomy 6q25 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3317296012 | A recently described syndrome with characteristics of developmental delay, facial dysmorphism and hearing loss. It has been diagnosed in 4 patients. All of them presented with microcephaly, developmental delay, dysmorphic features and hearing loss, two of them had agenesis of the corpus callosum. Dysmorphic features include midface hypoplasia, hypertelorism, broad nasal root and posteriorly rotated ears.This syndrome is caused by an interstitial deletion encompassing 6q25.2-q25.3. These de novo deletions have a variable size with the smallest region of overlap of 3.52 Mb. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 6q25 microdeletion syndrome | Is a | Anomaly of chromosome pair 6 | false | Inferred relationship | Some | ||
| 6q25 microdeletion syndrome | Is a | Deletion of part of autosome | false | Inferred relationship | Some | ||
| 6q25 microdeletion syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 6q25 microdeletion syndrome | Finding site | Chromosome pair 6 | true | Inferred relationship | Some | 2 | |
| 6q25 microdeletion syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| 6q25 microdeletion syndrome | Finding site | Chromosome pair 6 | true | Inferred relationship | Some | 3 | |
| 6q25 microdeletion syndrome | Associated morphology | Deletion of long arm | true | Inferred relationship | Some | 2 | |
| 6q25 microdeletion syndrome | Associated morphology | Partial monosomy | true | Inferred relationship | Some | 3 | |
| 6q25 microdeletion syndrome | Is a | Deletion of part of long arm of chromosome 6 | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR