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 |
| 5402195015 | 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402196019 | 6q25 microdeletion syndrome is a recently described syndrome characterised by developmental delay, facial dysmorphism and hearing loss. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3317293016 | 6q25 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317294010 | 6q25 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317295011 | Monosomy 6q25 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. | Is a | Anomaly of chromosome pair 6 | false | Inferred relationship | Some | ||
| 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. | Is a | Deletion of part of autosome | false | Inferred relationship | Some | ||
| 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. | Finding site | Chromosome pair 6 | true | Inferred relationship | Some | 2 | |
| 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. | Finding site | Chromosome pair 6 | true | Inferred relationship | Some | 3 | |
| 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. | Associated morphology | Deletion of long arm | true | Inferred relationship | Some | 2 | |
| 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. | Is a | Deletion of part of long arm of chromosome 6 (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR