Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3430703018 | Monosomy 9q22.3 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3430704012 | Monosomy 9q22.3 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3430705013 | Microdeletion 9q22.3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3430706014 | Monosomy 9q22.3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4009498017 | 9q22.3 deletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5403233012 | Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Monosomy 9q22.3 syndrome (disorder) | Is a | 9q partial monosomy syndrome | true | Inferred relationship | Some | ||
| Monosomy 9q22.3 syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Monosomy 9q22.3 syndrome (disorder) | Finding site | Chromosome pair 9 | true | Inferred relationship | Some | 2 | |
| Monosomy 9q22.3 syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Monosomy 9q22.3 syndrome (disorder) | Finding site | Chromosome pair 9 | true | Inferred relationship | Some | 3 | |
| Monosomy 9q22.3 syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Monosomy 9q22.3 syndrome (disorder) | Associated morphology | Deletion of long arm | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR