Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3425252013 | Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3425253015 | Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3425254014 | Casamassima Morton Nance syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3425255010 | Syndrome with the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. | en | Definition | Inactive | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Associated morphology | Congenital atresia | true | Inferred relationship | Some | 2 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Finding site | Anal structure | true | Inferred relationship | Some | 2 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Finding site | Bone structure of rib | true | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Finding site | Structure of genitourinary system | true | Inferred relationship | Some | 3 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Is a | Disorder of vertebral column | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 4 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Is a | Congenital anomaly of spine | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Is a | Dysostosis | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Is a | Congenital anomaly of rib | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Is a | Anal atresia | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Is a | Genitourinary congenital anomalies | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Is a | Finding of vertebra | false | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Is a | Inherited disorder of connective tissue | false | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Finding site | Bone structure of spine | true | Inferred relationship | Some | 4 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 5 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Finding site | Structure of genitourinary system | false | Inferred relationship | Some | 5 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Associated morphology | Congenital atresia | false | Inferred relationship | Some | 6 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Finding site | Anal structure | false | Inferred relationship | Some | 6 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 7 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | Finding site | Bone structure of rib | false | Inferred relationship | Some | 7 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set