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 |
3425177018 | Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3425178011 | Steroid dehydrogenase deficiency and dental anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3425179015 | Lyngstadaas syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3425180017 | An autosomal recessive liver disease, which was associated with numerical dental aberrations in a consanguineous Arabia Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3425181018 | An autosomal recessive liver disease, which was associated with numerical dental aberrations in a consanguineous Arabia Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralization and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
892411000172115 | syndrome de déficit en stéroïde déshydrogénase-anomalies dentaires | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
940001000172111 | syndrome de Lyngstadaas | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Is a | Metabolic and genetic disorder affecting the liver | true | Inferred relationship | Some | ||
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Is a | Congenital anomaly in number of teeth (disorder) | true | Inferred relationship | Some | ||
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Associated morphology | Congenital abnormal number | true | Inferred relationship | Some | 2 | |
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Finding site | Tooth structure | true | Inferred relationship | Some | 2 | |
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Finding site | Liver structure | false | Inferred relationship | Some | 3 | |
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Finding site | Liver structure | true | Inferred relationship | Some | 1 | |
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Is a | Hereditary disorder of tooth | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets