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 |
3425252013 | Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3425253015 | Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3425254014 | Casamassima Morton Nance syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
6376171000146119 | syndroom van Casamassima-Morton-Nance | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6948681000146118 | syndroom van spondylocostale dysostose, anusatresie en genito-urinaire malformatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6948701000146116 | syndroom van spondylocostale dysostose, anusatresie en genito-urinaire malformatie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Is a | Congenital anomaly of spine | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Is a | Dysostosis | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Is a | Congenital anomaly of rib | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Is a | Anal atresia | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Is a | Genitourinary congenital anomalies | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Is a | Finding of vertebra | false | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 4 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Finding site | Bone structure of spine | true | Inferred relationship | Some | 4 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 5 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Finding site | Structure of genitourinary system (body structure) | false | Inferred relationship | Some | 5 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Associated morphology | atresie (afwijkende morfologie) | false | Inferred relationship | Some | 6 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Finding site | Anal structure | false | Inferred relationship | Some | 6 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 7 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Finding site | Bone structure of rib | false | Inferred relationship | Some | 7 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Associated morphology | atresie (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Finding site | Anal structure | true | Inferred relationship | Some | 2 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Finding site | Bone structure of rib | true | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Finding site | Structure of genitourinary system (body structure) | true | Inferred relationship | Some | 3 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Is a | Disorder of vertebral column (disorder) | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 4 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | Associated morphology | Atresia (morphologic abnormality) | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets