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 |
| 3642119016 | Ring chromosome 15 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3642120010 | Ring chromosome 15 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3642121014 | Ring chromosome 15 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3642122019 | A rare chromosomal anomaly syndrome with a highly variable phenotype. The syndrome has characteristics of pre and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 1003581000172118 | chromosome 15 en anneau | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 1016801000172119 | syndrome du chromosome 15 en anneau | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 924901000172118 | ringchromosoom 15 syndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 993171000172119 | ring 15 | 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 15 syndrome | Is a | Anomaly of chromosome pair 15 | true | Inferred relationship | Some | ||
| Ring chromosome 15 syndrome | Is a | Chromosome replaced with ring or dicentric | false | Inferred relationship | Some | ||
| Ring chromosome 15 syndrome | Associated morphology | Ring chromosome | true | Inferred relationship | Some | 1 | |
| Ring chromosome 15 syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ring chromosome 15 syndrome | Finding site | Chromosome pair 15 | true | Inferred relationship | Some | 1 | |
| Ring chromosome 15 syndrome | Is a | Ring chromosome | true | Inferred relationship | Some | ||
| Ring chromosome 15 syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Ring chromosome 15 syndrome | 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