Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
315036012 | Defect of vertebral segmentation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
590823014 | Defect of vertebral segmentation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4885421000241118 | défaut de segmentation vertébrale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Congenital fusion of spine | Is a | False | Defect of vertebral segmentation | Inferred relationship | Some | |
Multiple congenital defects of vertebral segmentation | Is a | True | Defect of vertebral segmentation | Inferred relationship | Some | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. | Is a | True | Defect of vertebral segmentation | Inferred relationship | Some | |
Autosomal recessive Robinow syndrome | Is a | True | Defect of vertebral segmentation | Inferred relationship | Some |
This concept is not in any reference sets