Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3654270014 | Mosaic trisomy chromosome 7 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3654271013 | Trisomy 7 mosaicism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3654272018 | Mosaic trisomy 7 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3654273011 | Mosaic trisomy 7 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 7978391000146111 | mozaïektrisomie van chromosoom 7 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7978401000146114 | mozaïektrisomie 7 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8724431000146110 | mozaïcisme van trisomie 7 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8724441000146119 | syndroom van mozaïekvorm van trisomie 7 (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8724451000146116 | syndroom van mozaïekvorm van trisomie 7 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3654274017 | A rare chromosomal anomaly syndrome with a highly variable phenotype. Manifestations include Blaschko linear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears and micrognathia) and genital anomalies (undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mosaic trisomy 7 syndrome | Is a | Trisomy 7 | true | Inferred relationship | Some | ||
| Mosaic trisomy 7 syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Mosaic trisomy 7 syndrome | Finding site | Chromosome pair 7 | true | Inferred relationship | Some | 2 | |
| Mosaic trisomy 7 syndrome | Associated morphology | Trisomy | true | Inferred relationship | Some | 2 | |
| Mosaic trisomy 7 syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Mosaic trisomy 7 syndrome | Finding site | Chromosome pair 7 | true | Inferred relationship | Some | 1 | |
| Mosaic trisomy 7 syndrome | Associated morphology | Chromosome mosaicism | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR