238035000: Delta-4-3-oxosteroid-5-beta-reductase 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\Delta-4-3-oxosteroid-5-beta-reductase deficiency
• \Digestive system finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Delta-4-3-oxosteroid-5-beta-reductase deficiency
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\Delta-4-3-oxosteroid-5-beta-reductase 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\Delta-4-3-oxosteroid-5-beta-reductase 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\Delta-4-3-oxosteroid-5-beta-reductase 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\Delta-4-3-oxosteroid-5-beta-reductase 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\Delta-4-3-oxosteroid-5-beta-reductase 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\Delta-4-3-oxosteroid-5-beta-reductase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Delta-4-3-oxosteroid-5-beta-reductase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\Delta-4-3-oxosteroid-5-beta-reductase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Delta-4-3-oxosteroid-5-beta-reductase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\Delta-4-3-oxosteroid-5-beta-reductase deficiency
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\Delta-4-3-oxosteroid-5-beta-reductase 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\Delta-4-3-oxosteroid-5-beta-reductase 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\Delta-4-3-oxosteroid-5-beta-reductase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Delta-4-3-oxosteroid-5-beta-reductase deficiency
• \Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Delta-4-3-oxosteroid-5-beta-reductase deficiency
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipid metabolism disorder\Synthetic defect of bile acids\Delta-4-3-oxosteroid-5-beta-reductase deficiency
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipid metabolism disorder\Disorder of cholesterol metabolism\Disorder of cholesterol catabolism\Delta-4-3-oxosteroid-5-beta-reductase deficiency
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Disorder of cholesterol catabolism\Delta-4-3-oxosteroid-5-beta-reductase deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids\Delta-4-3-oxosteroid-5-beta-reductase deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
356789013	Delta-4-3-oxosteroid-5-beta-reductase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
4570918019	Congenital bile acid synthesis defect type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
626859019	Delta-4-3-oxosteroid-5-beta-reductase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4570919010	An anomaly of bile acid synthesis with characteristics of severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. Patients present with neonatal cholestasis and rapid progression to cirrhosis and death in infancy without intervention. Caused by a mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1, 7q32-q33). 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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