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

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Digestive system finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\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\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\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 body system\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipid metabolism disorder\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipid metabolism disorder\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
• \Disease\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency

Status: current, Primitive. 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	Active	Initial character case insensitive	SNOMED CT core
4570895016	Congenital bile acid synthesis defect type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
626857017	3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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