Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3657315019 | Distal 18q deletion syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3657316018 | Distal monosomy 18q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3657320019 | Distal chromosome 18q deletion syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3657321015 | Distal chromosome 18q deletion syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3657319013 | A deletion of the long (q) arm of chromosome 18 near one end of the chromosome. Manifestations of this disorder are varied and can commonly include short stature, hypotonia, hearing loss, clubfoot or rocker-bottom feet, eye movement disorders and other vision problems, cleft palate, hypothyroidism, congenital heart defects, kidney problems, genital and skin abnormalities. Most cases are the result of a de novo deletion and are not inherited. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal chromosome 18q deletion syndrome | Associated morphology | Deletion of long arm | true | Inferred relationship | Some | 2 | |
| Distal chromosome 18q deletion syndrome | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Distal chromosome 18q deletion syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Distal chromosome 18q deletion syndrome | Finding site | Chromosome pair 18 | true | Inferred relationship | Some | 2 | |
| Distal chromosome 18q deletion syndrome | Is a | 18q partial monosomy syndrome | true | Inferred relationship | Some | ||
| Distal chromosome 18q deletion syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Distal chromosome 18q deletion syndrome | Finding site | Chromosome pair 18 | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR