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723583009: Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder)


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


0 descendants.

Expanded Value Set


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 Existential restriction modifier (core metadata concept)
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a Metabolic and genetic disorder affecting the liver true Inferred relationship Existential restriction modifier (core metadata concept)
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a Congenital anomaly in number of teeth true Inferred relationship Existential restriction modifier (core metadata concept)
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Associated morphology Congenital abnormal number false Inferred relationship Existential restriction modifier (core metadata concept) 2
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Finding site Liver structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Finding site Liver structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Associated morphology Abnormal number (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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