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 |
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 |
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 |
3420191001000113 | Steroid-Dehydrogenase-Mangel - Zahnanomalien | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
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 |
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 |
3420191001000113 | Steroid-Dehydrogenase-Mangel - Zahnanomalien | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)