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 |
| 3304046018 | A multiple congenital anomaly/mental retardation contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The most common clinical features include pre and postnatal growth retardation, psychomotor retardation, facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, a broad nasal bridge, short nose, V-shaped mouth, and small, low-set and posteriorly rotated ears). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3875791000052116 | Jacobsens syndrom | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| 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 |
This concept is not in any reference sets
FHIR