Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3701700017 | Distal 17p13.1 microdeletion syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3701701018 | Distal 17p13.1 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3701702013 | A rare chromosomal anomaly syndrome with characteristics of mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4214961000052110 | distalt 17p13.1-mikrodeletionssyndrom | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal 17p13.1 microdeletion syndrome (disorder) | Is a | Deletion of part of short arm of chromosome 17 (disorder) | true | Inferred relationship | Some | ||
| Distal 17p13.1 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Distal 17p13.1 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Distal 17p13.1 microdeletion syndrome (disorder) | Finding site | Chromosome pair 17 | true | Inferred relationship | Some | 2 | |
| Distal 17p13.1 microdeletion syndrome (disorder) | Finding site | Chromosome pair 17 | true | Inferred relationship | Some | 1 | |
| Distal 17p13.1 microdeletion syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Distal 17p13.1 microdeletion syndrome (disorder) | Associated morphology | Deletion of short arm | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR