Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3326431011 | Microduplication Xp11.22p11.23 syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3326432016 | Microduplication Xp11.22p11.23 syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3326436018 | Trisomy Xp11.22-p11.23 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5402729013 | Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Microduplication Xp11.22p11.23 syndrome (disorder) | Is a | Anomaly of chromosome X | true | Inferred relationship | Some | ||
Microduplication Xp11.22p11.23 syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
Microduplication Xp11.22p11.23 syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Microduplication Xp11.22p11.23 syndrome (disorder) | Finding site | Sex chromosome X | false | Inferred relationship | Some | 1 | |
Microduplication Xp11.22p11.23 syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Microduplication Xp11.22p11.23 syndrome (disorder) | Finding site | Short arm of chromosome | true | Inferred relationship | Some | 1 | |
Microduplication Xp11.22p11.23 syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Microduplication Xp11.22p11.23 syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 | |
Microduplication Xp11.22p11.23 syndrome (disorder) | Finding site | Sex chromosome X | true | Inferred relationship | Some | 2 | |
Microduplication Xp11.22p11.23 syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Microduplication Xp11.22p11.23 syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)