238033007: 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Synthetic defect of bile acids (disorder)\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Disorder of cholesterol metabolism\Disorder of cholesterol catabolism\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Disorder of cholesterol catabolism\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
356786018	3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626857017	3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4570895016	Congenital bile acid synthesis defect type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4570898019	The most common anomaly of bile acid synthesis with characteristics of variable manifestations of progressive cholestatic liver disease and fat malabsorption. The clinical presentation is heterogeneous, however most patients present with features of neonatal cholestasis. The disease is caused by a mutation in the gene encoding 3-beta-hydroxy-delta-5-C27 steroid oxidoreductase (HSD3B7, 16p12-p11.2). Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356786018	3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356786018	3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626857017	3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626857017	3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
626857017	3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4570895016	Congenital bile acid synthesis defect type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4570898019	The most common anomaly of bile acid synthesis with characteristics of variable manifestations of progressive cholestatic liver disease and fat malabsorption. The clinical presentation is heterogeneous, however most patients present with features of neonatal cholestasis. The disease is caused by a mutation in the gene encoding 3-beta-hydroxy-delta-5-C27 steroid oxidoreductase (HSD3B7, 16p12-p11.2). Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3385131001000119	Gallensäuresynthesedefekt, kongenitaler, Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5021541000241110	déficit en 3-bêta-hydroxy-delta-5-C27-stéroide déshydrogénase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5021541000241110	déficit en 3-bêta-hydroxy-delta-5-C27-stéroide déshydrogénase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3385131001000119	Gallensäuresynthesedefekt, kongenitaler, Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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