Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3723178015 | Distal trisomy 7q11.23 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723180014 | Distal 7q11.23 microduplication syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723181013 | Distal 7q11.23 microduplication syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723179011 | A rare chromosomal anomaly with characteristics of a predominantly neuropsychiatric phenotype with a few dysmorphic features. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 921891000172119 | dup(7)(q11.23) distale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 996101000172119 | syndrome de microduplication 7q11.23 distale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal 7q11.23 microduplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 | |
| Distal 7q11.23 microduplication syndrome (disorder) | Finding site | Long arm of chromosome | false | Inferred relationship | Some | 2 | |
| Distal 7q11.23 microduplication syndrome (disorder) | Finding site | Chromosome pair 7 | false | Inferred relationship | Some | 1 | |
| Distal 7q11.23 microduplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Distal 7q11.23 microduplication syndrome (disorder) | Is a | 7q partial trisomy (disorder) | true | Inferred relationship | Some | ||
| Distal 7q11.23 microduplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Distal 7q11.23 microduplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Distal 7q11.23 microduplication syndrome (disorder) | Finding site | Chromosome pair 7 | true | Inferred relationship | Some | 2 | |
| Distal 7q11.23 microduplication syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Distal 7q11.23 microduplication syndrome (disorder) | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 1 | |
| Distal 7q11.23 microduplication syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Distal 7q11.23 microduplication syndrome (disorder) | Is a | Congenital malformation | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR