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 |
| 3655958014 | Mosaic trisomy 9 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655959018 | Trisomy 9 mosaicism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655960011 | Mosaic trisomy chromosome 9 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655961010 | Mosaic trisomy 9 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655796016 | A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are intellectual disability, growth and developmental delay, facial dysmorphism (including microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (ventricular septal defect), as well as urogenital (hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5504201000241119 | trisomie 9 en mosaïque | 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 |
| Mosaic trisomy 9 syndrome | Is a | Trisomy 9 | true | Inferred relationship | Some | ||
| Mosaic trisomy 9 syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Mosaic trisomy 9 syndrome | Finding site | Chromosome pair 9 | true | Inferred relationship | Some | 2 | |
| Mosaic trisomy 9 syndrome | Associated morphology | Trisomy | true | Inferred relationship | Some | 2 | |
| Mosaic trisomy 9 syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Mosaic trisomy 9 syndrome | Finding site | Chromosome pair 9 | true | Inferred relationship | Some | 1 | |
| Mosaic trisomy 9 syndrome | Associated morphology | Chromosome mosaicism | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR