Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3447658010 | Short rib polydactyly syndrome type I (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3447659019 | Short rib polydactyly syndrome Saldino Noonan type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3447660012 | Saldino Noonan syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3447661011 | Short rib polydactyly syndrome type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3447662016 | Short rib polydactyly syndrome type I | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
7050911000146111 | syndroom van korte rib en polydactylie type I | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7050921000146118 | syndroom van korte rib en polydactylie type I (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7050931000146116 | syndroom van korte rib en polydactylie type Saldino-Noonan | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
4361408015 | An extremely rare type of short rib polydactyly syndrome with neonatal onset. The disease has characteristics of polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia (flipper-like extremities), pointed metaphyses and a range of other ossification defects. Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels and atresia of the gastrointestinal and genitourinary systems. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets