Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3775333010 | Deletion 22 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3775335015 | Monosomy 22 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4555265016 | Monosomy 22 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4555266015 | Monosomy 22 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3775336019 | A rare autosomal anomaly syndrome with a highly variable phenotype and typical characteristics of short length, joint abnormalities (for example dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (including microcephaly, a high prominent narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5593041000241110 | monosomie 22 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Monosomy 22 syndrome (disorder) | Is a | Monosomy and deletion from autosome (disorder) | false | Inferred relationship | Some | ||
| Monosomy 22 syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Monosomy 22 syndrome (disorder) | Finding site | Chromosome pair 22 | true | Inferred relationship | Some | 1 | |
| Monosomy 22 syndrome (disorder) | Associated morphology | Monosomy | true | Inferred relationship | Some | 1 | |
| Monosomy 22 syndrome (disorder) | Is a | Anomaly of chromosome pair 22 | true | Inferred relationship | Some | ||
| Monosomy 22 syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Monosomy 22 syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Monosomy 22 syndrome (disorder) | Is a | Complete monosomy of autosome (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR