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 |
759831000241119 | syndrome de dysostose spondylo-costale-atrésie anale-malformation génito-urinaire (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
971041000172118 | syndrome de dysostose spondylo-costale-atrésie anale-malformation génito-urinaire | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
988661000172111 | syndrome de Casamassima-Morton-Nance | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | survenue (attribut) | congénital | 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) | morphologie associée (attribut) | Congenital atresia (morphologic abnormality) | 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 | 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) | localisation d'une constatation (attribut) | structure anale | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | localisation d'une constatation (attribut) | Bone structure of rib | true | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | localisation d'une constatation (attribut) | Structure of genitourinary system | true | Inferred relationship | Some | 3 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | est un(e) (attribut) | affection du rachis | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 4 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of spine | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | est un(e) (attribut) | Dysostosis | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of rib | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | est un(e) (attribut) | Anal atresia | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | est un(e) (attribut) | anomalies congénitales génito-urinaires | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | est un(e) (attribut) | résultat concernant une vertèbre | false | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse de la colonne vertébrale (structure corporelle) | true | Inferred relationship | Some | 4 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 5 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | localisation d'une constatation (attribut) | Structure of genitourinary system | false | Inferred relationship | Some | 5 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | morphologie associée (attribut) | Congenital atresia (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | localisation d'une constatation (attribut) | structure anale | false | Inferred relationship | Some | 6 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 7 | |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) | localisation d'une constatation (attribut) | Bone structure of rib | false | Inferred relationship | Some | 7 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets