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 |
| 3649841017 | Monosomy 19p13.13 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3649842012 | 19p13.13 microdeletion syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3649843019 | 19p13.13 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3649844013 | Chromosome 19p13.13 deletion syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3649601011 | Syndrome with common characteristics of macrocephaly, tall stature and intellectual disability that is usually moderate in severity. Many affected individuals have significantly delayed development, hypotonia and ataxia. Other manifestations include seizures, abnormalities of brain structure and mild facial dysmorphism for example prominent forehead. The syndrome is not typically inherited. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 915661000172116 | syndrome de microdélétion 19p13.13 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 951121000172113 | del(19)(p13.13) | 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 |
| 19p13.13 microdeletion syndrome (disorder) | Is a | Deletion of part of chromosome 19 (disorder) | false | Inferred relationship | Some | ||
| 19p13.13 microdeletion syndrome (disorder) | Associated morphology | Deletion of short arm | true | Inferred relationship | Some | 2 | |
| 19p13.13 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 19p13.13 microdeletion syndrome (disorder) | Finding site | Chromosome pair 19 | true | Inferred relationship | Some | 2 | |
| 19p13.13 microdeletion syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| 19p13.13 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 19p13.13 microdeletion syndrome (disorder) | Finding site | Chromosome pair 19 | true | Inferred relationship | Some | 1 | |
| 19p13.13 microdeletion syndrome (disorder) | Is a | Deletion of short arm of chromosome 19 (disorder) | true | Inferred relationship | Some | ||
| 19p13.13 microdeletion syndrome (disorder) | Finding site | Short 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