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 |
| 5402183015 | 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402184014 | 2p15p16.1 microdeletion syndrome is a recently described syndrome characterised by developmental delay and facial dysmorphism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3317247019 | 2p15p16.1 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317248012 | 2p15p16.1 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317249016 | Monosomy 2p15p16.1 | 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 |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Is a | Anomaly of chromosome pair 2 | false | Inferred relationship | Some | ||
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Is a | Deletion of part of autosome | false | Inferred relationship | Some | ||
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Finding site | Chromosome pair 2 (cell structure) | false | Inferred relationship | Some | 2 | |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Finding site | Chromosome pair 2 (cell structure) | false | Inferred relationship | Some | 3 | |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Associated morphology | Deletion of short arm | false | Inferred relationship | Some | 2 | |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Associated morphology | Partial monosomy (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Is a | Deletion of part of short arm of chromosome 2 (disorder) | true | Inferred relationship | Some | ||
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Finding site | Short arm of chromosome | true | Inferred relationship | Some | 2 | |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Finding site | Chromosome pair 2 (cell structure) | true | Inferred relationship | Some | 1 | |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR