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 |
| 3317281013 | 4q21 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317282018 | 4q21 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317283011 | Monosomy 4q21 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317284017 | A newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. It has been reported in nine unrelated patients. The most common facial feature includes high or broad forehead, hypertelorism and short philtrum. Short hands and feet are frequently observed. The microdeletion critical region encompasses two candidate genes, PRKG2 and RASGEF1B, in which haploinsufficiency could participate to the phenotype. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 4q21 microdeletion syndrome (disorder) | Is a | 4q partial monosomy syndrome | true | Inferred relationship | Some | ||
| 4q21 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 4q21 microdeletion syndrome (disorder) | Finding site | Chromosome pair 4 | true | Inferred relationship | Some | 2 | |
| 4q21 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| 4q21 microdeletion syndrome (disorder) | Finding site | Chromosome pair 4 | true | Inferred relationship | Some | 3 | |
| 4q21 microdeletion syndrome (disorder) | Associated morphology | Deletion of long arm | true | Inferred relationship | Some | 2 | |
| 4q21 microdeletion syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR