Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3728147016 | Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3728148014 | Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3728149018 | A rare genetic neural tube defect malformation syndrome with characteristics of sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, and single umbilical artery and in some cases increased nuchal translucency. There is evidence the disease can be caused by homozygous mutation in the T gene on chromosome 6q27. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 4 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Finding site | Spinal cord structure | true | Inferred relationship | Some | 4 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Finding site | Lumbosacral region of spine structure | false | Inferred relationship | Some | 3 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Is a | Sacral agenesis | true | Inferred relationship | Some | ||
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Finding site | Neural tube structure | true | Inferred relationship | Some | 1 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Is a | Neural tube defect | true | Inferred relationship | Some | ||
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Associated morphology | Agenesis | true | Inferred relationship | Some | 2 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Finding site | Entire sacrum | false | Inferred relationship | Some | 2 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Finding site | Structure of sacral vertebral column region | true | Inferred relationship | Some | 3 | |
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Is a | Congenital anomaly of spinal cord | true | Inferred relationship | Some | ||
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Finding site | Entire sacral vertebral column region | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set