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 |
| 3326431011 | Microduplication Xp11.22p11.23 syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3326432016 | Microduplication Xp11.22p11.23 syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3326436018 | Trisomy Xp11.22-p11.23 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 10221551000146112 | Xp11.22-p11.23-microduplicatiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 10221561000146110 | trisomie Xp11.22-p11.23 | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 10221571000146116 | Xp11.22-p11.23-microduplicatiesyndroom (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3326437010 | Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. To date, twelve patients have been described. All patients show moderate to severe intellectual deficit and speech delay. Seizures, early puberty and lower-extremity anomalies, including pes planus or cavus, fifth toe hypoplasia, and syndactyly, are common. Most affected females show preferential activation of the duplicated X chromosome. Duplications are mediated by nonallelic homologous recombination or Alu-mediated recombination. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microduplication Xp11.22p11.23 syndrome (disorder) | Is a | Anomaly of chromosome X | true | Inferred relationship | Some | ||
| Microduplication Xp11.22p11.23 syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Microduplication Xp11.22p11.23 syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Microduplication Xp11.22p11.23 syndrome (disorder) | Finding site | Sex chromosome X | false | Inferred relationship | Some | 1 | |
| Microduplication Xp11.22p11.23 syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Microduplication Xp11.22p11.23 syndrome (disorder) | Finding site | Short arm of chromosome | true | Inferred relationship | Some | 1 | |
| Microduplication Xp11.22p11.23 syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Microduplication Xp11.22p11.23 syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 | |
| Microduplication Xp11.22p11.23 syndrome (disorder) | Finding site | Sex chromosome X | true | Inferred relationship | Some | 2 | |
| Microduplication Xp11.22p11.23 syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Microduplication Xp11.22p11.23 syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR