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 |
| 3312948011 | 8q21.11 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3312949015 | 8q21.11 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3312950015 | Monosomy 8q21.11 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3312953018 | Encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. The prevalence is unknown but 8q21.11 microdeletion syndrome is rare. Microdeletions appear de novo or are inherited from affected parents in an autosomal dominant manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 911571000172111 | syndrome de microdélétion 8q21.11 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 959951000172116 | del(8)(q21.11) | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 963811000172115 | del(8)(q21.11) | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 993711000172112 | 8q21.11 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 |
| 8q21.11 microdeletion syndrome (disorder) | Is a | 8q partial monosomy syndrome | true | Inferred relationship | Some | ||
| 8q21.11 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 8q21.11 microdeletion syndrome (disorder) | Finding site | Chromosome pair 8 | true | Inferred relationship | Some | 2 | |
| 8q21.11 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| 8q21.11 microdeletion syndrome (disorder) | Finding site | Chromosome pair 8 | true | Inferred relationship | Some | 3 | |
| 8q21.11 microdeletion syndrome (disorder) | Associated morphology | Deletion of long arm | true | Inferred relationship | Some | 2 | |
| 8q21.11 microdeletion syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR