Status: current, Primitive. Date: 31-Dec 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5159435017 | Congenital vertebral, cardiac, renal anomalies syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
5159436016 | Congenital NAD deficiency disorder | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
5159437013 | Congenital vertebral, cardiac, renal anomalies syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
5159438015 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of 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. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Congenital vertebral, cardiac, renal anomalies syndrome | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
Congenital vertebral, cardiac, renal anomalies syndrome | Is a | Defect of vertebral segmentation | true | Inferred relationship | Some | ||
Congenital vertebral, cardiac, renal anomalies syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Congenital vertebral, cardiac, renal anomalies syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Congenital vertebral, cardiac, renal anomalies syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Congenital vertebral, cardiac, renal anomalies syndrome | Is a | Hereditary nephropathy | true | Inferred relationship | Some | ||
Congenital vertebral, cardiac, renal anomalies syndrome | Is a | Congenital anomaly of the kidney | true | Inferred relationship | Some | ||
Congenital vertebral, cardiac, renal anomalies syndrome | Is a | Congenital anomaly of spine | true | Inferred relationship | Some | ||
Congenital vertebral, cardiac, renal anomalies syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Congenital vertebral, cardiac, renal anomalies syndrome | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
Congenital vertebral, cardiac, renal anomalies syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Congenital vertebral, cardiac, renal anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Congenital vertebral, cardiac, renal anomalies syndrome | Finding site | Bone structure of spine | true | Inferred relationship | Some | 1 | |
Congenital vertebral, cardiac, renal anomalies syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Congenital vertebral, cardiac, renal anomalies syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Congenital vertebral, cardiac, renal anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Congenital vertebral, cardiac, renal anomalies syndrome | Finding site | Kidney structure | true | Inferred relationship | Some | 2 | |
Congenital vertebral, cardiac, renal anomalies syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Congenital vertebral, cardiac, renal anomalies syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Congenital vertebral, cardiac, renal anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Congenital vertebral, cardiac, renal anomalies syndrome | Finding site | Structure of heart | true | Inferred relationship | Some | 3 | |
Congenital vertebral, cardiac, renal anomalies syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
Congenital vertebral, cardiac, renal anomalies syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Musculoskeletal finding reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set