238035000: Delta-4-3-oxosteroid-5-beta-reductase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Liver finding\Disorder of liver\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\Disorder of liver\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\Disorder of liver\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\Disorder of liver\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\Disorder of liver\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\Disorder of liver\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\Disorder of liver\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\Disorder of liver\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\Disorder of liver\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\Disorder of lipid metabolism\Synthetic defect of bile acids\Delta-4-3-oxosteroid-5-beta-reductase deficiency
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
356789013	Delta-4-3-oxosteroid-5-beta-reductase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
626859019	Delta-4-3-oxosteroid-5-beta-reductase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4570918019	Congenital bile acid synthesis defect type 2	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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