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 |
| 3302628012 | Distal partial deletion of long arm of chromosome 11 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302629016 | Distal partial deletion of long arm of chromosome 11 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302630014 | Jacobsen syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3302631013 | Distal deletion 11q | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302632018 | Distal monosomy 11q | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5400895014 | A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400896010 | A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterised by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal partial deletion of long arm of chromosome 11 (disorder) | Is a | 11q partial monosomy syndrome | false | Inferred relationship | Some | ||
| Distal partial deletion of long arm of chromosome 11 (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Distal partial deletion of long arm of chromosome 11 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Distal partial deletion of long arm of chromosome 11 (disorder) | Finding site | Chromosome pair 11 | true | Inferred relationship | Some | 2 | |
| Distal partial deletion of long arm of chromosome 11 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Distal partial deletion of long arm of chromosome 11 (disorder) | Finding site | Chromosome pair 11 | true | Inferred relationship | Some | 3 | |
| Distal partial deletion of long arm of chromosome 11 (disorder) | Associated morphology | Deletion of long arm | true | Inferred relationship | Some | 2 | |
| Distal partial deletion of long arm of chromosome 11 (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Distal partial deletion of long arm of chromosome 11 (disorder) | Is a | Deletion of part of chromosome 11 (disorder) | true | Inferred relationship | Some | ||
| Distal partial deletion of long arm of chromosome 11 (disorder) | Finding site | Long arm of chromosome | false | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR