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 |
5403124015 | A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403125019 | A rare metabolic liver disease characterised by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralisation and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 | false | 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 | ||
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) | Associated morphology | Abnormal number (morphologic abnormality) | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)