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

\Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Delta-4-3-oxosteroid-5-beta-reductase deficiency
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Delta-4-3-oxosteroid-5-beta-reductase deficiency
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Delta-4-3-oxosteroid-5-beta-reductase deficiency

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Delta-4-3-oxosteroid-5-beta-reductase 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)\Delta-4-3-oxosteroid-5-beta-reductase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Delta-4-3-oxosteroid-5-beta-reductase deficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\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 (disorder)\Delta-4-3-oxosteroid-5-beta-reductase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\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 (disorder)\Synthetic defect of bile acids (disorder)\Delta-4-3-oxosteroid-5-beta-reductase deficiency
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Delta-4-3-oxosteroid-5-beta-reductase deficiency
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Delta-4-3-oxosteroid-5-beta-reductase deficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Delta-4-3-oxosteroid-5-beta-reductase deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\Delta-4-3-oxosteroid-5-beta-reductase deficiency
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\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 (disorder)\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)\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 (disorder)\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\Delta-4-3-oxosteroid-5-beta-reductase 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

356789013 Delta-4-3-oxosteroid-5-beta-reductase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626859019 Delta-4-3-oxosteroid-5-beta-reductase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4570918019 Congenital bile acid synthesis defect type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

11480231000172119 déficit en delta-4-3-oxostéroïde-5-bêta-réductase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4185431000172117 deficiëntie van delta-4-3-oxosteroïde-5-bèta-reductase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4185441000172112 delta-4-3-oxosteroïde-5-bèta-reductase-deficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Delta-4-3-oxosteroid-5-beta-reductase deficiency	Is a	Disorder of cholesterol catabolism	true	Inferred relationship	Some
Delta-4-3-oxosteroid-5-beta-reductase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Delta-4-3-oxosteroid-5-beta-reductase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Delta-4-3-oxosteroid-5-beta-reductase deficiency	Is a	Synthetic defect of bile acids (disorder)	true	Inferred relationship	Some
Delta-4-3-oxosteroid-5-beta-reductase deficiency	Finding site	Liver structure	true	Inferred relationship	Some	1
Delta-4-3-oxosteroid-5-beta-reductase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	2
Delta-4-3-oxosteroid-5-beta-reductase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
356789013	Delta-4-3-oxosteroid-5-beta-reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626859019	Delta-4-3-oxosteroid-5-beta-reductase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4570918019	Congenital bile acid synthesis defect type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
11480231000172119	déficit en delta-4-3-oxostéroïde-5-bêta-réductase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4185431000172117	deficiëntie van delta-4-3-oxosteroïde-5-bèta-reductase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4185441000172112	delta-4-3-oxosteroïde-5-bèta-reductase-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)