Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3701490011 | Ring chromosome 12 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3701491010 | Ring chromosome 12 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3701492015 | Ring chromosome 12 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3701256017 | A rare chromosomal anomaly syndrome with a highly variable phenotype and principle characteristics of postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (including epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (for example pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, cafe-au-lait spots and epilepsy have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 931611000172110 | chromosome 12 en anneau | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 973281000172118 | syndrome du chromosome 12 en anneau | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 869001000172119 | ringchromosoom 12 syndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 887661000172119 | ring 12 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ring chromosome 12 syndrome | Is a | Chromosome replaced with ring or dicentric | false | Inferred relationship | Some | ||
| Ring chromosome 12 syndrome | Associated morphology | Ring chromosome | true | Inferred relationship | Some | 1 | |
| Ring chromosome 12 syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ring chromosome 12 syndrome | Is a | Anomaly of chromosome pair 12 | true | Inferred relationship | Some | ||
| Ring chromosome 12 syndrome | Finding site | Chromosome pair 12 | true | Inferred relationship | Some | 1 | |
| Ring chromosome 12 syndrome | Is a | Ring chromosome | true | Inferred relationship | Some | ||
| Ring chromosome 12 syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Ring chromosome 12 syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Belgian subset for medical problems in patient health records
FHIR