Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755114012 | Distal duplication 18q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755115013 | Telomeric duplication 18q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755116014 | Distal trisomy 18q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755117017 | Distal trisomy 18q (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755118010 | A rare partial autosomal trisomy with characteristics of a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal trisomy 18q | morphologie associée (attribut) | Partial trisomy | true | Inferred relationship | Some | 2 | |
| Distal trisomy 18q | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Distal trisomy 18q | morphologie associée (attribut) | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Distal trisomy 18q | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Distal trisomy 18q | est un(e) (attribut) | 18q partial trisomy syndrome | true | Inferred relationship | Some | ||
| Distal trisomy 18q | localisation d'une constatation (attribut) | Long arm of chromosome (cell structure) | true | Inferred relationship | Some | 2 | |
| Distal trisomy 18q | localisation d'une constatation (attribut) | Chromosome pair 18 (cell structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR