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FHIR
© HL7.org
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Server Home |
FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR Version n/a
User: [n/a]
Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3317281013 | 4q21 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317282018 | 4q21 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317283011 | Monosomy 4q21 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5402192017 | The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 4q21 microdeletion syndrome (disorder) | Is a | 4q partial monosomy syndrome | true | Inferred relationship | Some | ||
| 4q21 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 4q21 microdeletion syndrome (disorder) | Finding site | Chromosome pair 4 | true | Inferred relationship | Some | 2 | |
| 4q21 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| 4q21 microdeletion syndrome (disorder) | Finding site | Chromosome pair 4 | true | Inferred relationship | Some | 3 | |
| 4q21 microdeletion syndrome (disorder) | Associated morphology | Deletion of long arm | true | Inferred relationship | Some | 2 | |
| 4q21 microdeletion syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)