Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3701918012 | Non-distal monosomy 10q (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 3701919016 | Non-distal deletion 10q | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3701920010 | Non-distal monosomy 10q | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3701921014 | Non-telomeric monosomy 10q | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3701772014 | A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 10. The disease has a highly variable phenotype with principle characteristics of developmental delay (usually of language and speech), variable cognitive impairment, autism spectrum disorder and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Non-distal monosomy 10q | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Non-distal monosomy 10q | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 3 | |
| Non-distal monosomy 10q | Associated morphology | Partial monosomy | true | Inferred relationship | Some | 3 | |
| Non-distal monosomy 10q | Is a | 10q partial monosomy | true | Inferred relationship | Some | ||
| Non-distal monosomy 10q | Finding site | Chromosome pair 10 | true | Inferred relationship | Some | 2 | |
| Non-distal monosomy 10q | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Non-distal monosomy 10q | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Non-distal monosomy 10q | Finding site | Chromosome pair 10 | true | Inferred relationship | Some | 1 | |
| Non-distal monosomy 10q | Associated morphology | Deletion of long arm | true | Inferred relationship | Some | 1 | |
| Non-distal monosomy 10q | Associated morphology | Partial monosomy | 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
FHIR