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 |
| 3658949018 | Ring chromosome 2 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3658950018 | Ring chromosome 2 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3658951019 | Ring chromosome 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3658952014 | A rare chromosomal anomaly syndrome with highly variable phenotype. Principal characteristics are intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (including microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (for example kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (including cafe-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (for example genital hypoplasia, phimosis, cryptorchidism). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 876741000172115 | chromosome 2 en anneau | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 975751000172115 | syndrome du chromosome 2 en anneau | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 919121000172118 | ring 2 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 1005731000172110 | ringchromosoom 2 syndroom | 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 2 syndrome (disorder) | Is a | Anomaly of chromosome pair 2 | true | Inferred relationship | Some | ||
| Ring chromosome 2 syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ring chromosome 2 syndrome (disorder) | Is a | Chromosome replaced with ring or dicentric | false | Inferred relationship | Some | ||
| Ring chromosome 2 syndrome (disorder) | Associated morphology | Ring chromosome | true | Inferred relationship | Some | 1 | |
| Ring chromosome 2 syndrome (disorder) | Finding site | Chromosome pair 2 | true | Inferred relationship | Some | 1 | |
| Ring chromosome 2 syndrome (disorder) | Is a | Ring chromosome | true | Inferred relationship | Some | ||
| Ring chromosome 2 syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Ring chromosome 2 syndrome (disorder) | 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