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 |
| 3657167014 | Proximal 16p11.2 microduplication syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3657168016 | Proximal 16p11.2 microduplication syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3657169012 | Proximal trisomy 16p11.2 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5404490016 | Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404491017 | Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterised by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Proximal 16p11.2 microduplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Proximal 16p11.2 microduplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Proximal 16p11.2 microduplication syndrome (disorder) | Is a | 16p partial trisomy syndrome | false | Inferred relationship | Some | ||
| Proximal 16p11.2 microduplication syndrome (disorder) | Finding site | Chromosome pair 16 | false | Inferred relationship | Some | 1 | |
| Proximal 16p11.2 microduplication syndrome (disorder) | Is a | Duplication of part of short arm of chromosome 16 (disorder) | true | Inferred relationship | Some | ||
| Proximal 16p11.2 microduplication syndrome (disorder) | Is a | Congenital malformation | true | Inferred relationship | Some | ||
| Proximal 16p11.2 microduplication syndrome (disorder) | Finding site | Short arm of chromosome | true | Inferred relationship | Some | 1 | |
| Proximal 16p11.2 microduplication syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Proximal 16p11.2 microduplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Proximal 16p11.2 microduplication syndrome (disorder) | Finding site | Chromosome pair 16 | true | Inferred relationship | Some | 2 | |
| Proximal 16p11.2 microduplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 | |
| Proximal 16p11.2 microduplication syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR