Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3305744017 | 8p23.1 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305745016 | 8p23.1 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305746015 | Monosomy 8p23.1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5401317017 | 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401318010 | 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterised by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 8p23.1 microdeletion syndrome (disorder) | Is a | 8p partial monosomy syndrome | true | Inferred relationship | Some | ||
| 8p23.1 microdeletion syndrome (disorder) | Associated morphology | Deletion of short arm | true | Inferred relationship | Some | 2 | |
| 8p23.1 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 8p23.1 microdeletion syndrome (disorder) | Finding site | Chromosome pair 8 | true | Inferred relationship | Some | 2 | |
| 8p23.1 microdeletion syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| 8p23.1 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| 8p23.1 microdeletion syndrome (disorder) | Finding site | Chromosome pair 8 | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR