Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3311591010 | Proximal 16p11.2 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311592015 | Proximal 16p11.2 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311593013 | A chromosomal anomaly with characteristics of developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. The proximal 16p11.2 microdeletion syndrome most commonly refers to a distinct deletion of approximately 593 kb at chromosomal coordinates 29.5-30.1 Mb comprising 24 genes. The relationship between genotype and clinical phenotype remains elusive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 970521000172114 | del(16)(p11.2) proximale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 1018481000172112 | syndrome de microdélétion 16p11.2 proximale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 968841000172111 | proximale del(16)(p11.2) | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 985621000172110 | proximale 16p11.2 microdeletiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Proximal 16p11.2 microdeletion syndrome (disorder) | Is a | Deletion of part of autosome | false | Inferred relationship | Some | ||
| Proximal 16p11.2 microdeletion syndrome (disorder) | Is a | Chromosome 16p11.2 deletion syndrome | false | Inferred relationship | Some | ||
| Proximal 16p11.2 microdeletion syndrome (disorder) | Associated morphology | Deletion of short arm | false | Inferred relationship | Some | 1 | |
| Proximal 16p11.2 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Proximal 16p11.2 microdeletion syndrome (disorder) | Finding site | Chromosome pair 16 | false | Inferred relationship | Some | 1 | |
| Proximal 16p11.2 microdeletion syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Proximal 16p11.2 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Proximal 16p11.2 microdeletion syndrome (disorder) | Finding site | Short arm of chromosome | true | Inferred relationship | Some | 1 | |
| Proximal 16p11.2 microdeletion syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Proximal 16p11.2 microdeletion syndrome (disorder) | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Proximal 16p11.2 microdeletion syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Proximal 16p11.2 microdeletion syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Proximal 16p11.2 microdeletion syndrome (disorder) | Is a | Congenital malformation | true | Inferred relationship | Some | ||
| Proximal 16p11.2 microdeletion syndrome (disorder) | Finding site | Chromosome pair 16 | true | Inferred relationship | Some | 2 | |
| Proximal 16p11.2 microdeletion syndrome (disorder) | Is a | Deletion of part of short arm of chromosome 16 (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR