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\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.

\Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\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.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Synthetic defect of bile acids\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.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\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.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids\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.

\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\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.
\Finding of trunk structure (finding)\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\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.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\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.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\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.

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\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.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\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.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\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.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids\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.
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids\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.
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\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.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Synthetic defect of bile acids\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.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\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.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids\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.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\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.
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\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.
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\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.
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Synthetic defect of bile acids\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.
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Disorder of cholesterol metabolism\Disorder of cholesterol catabolism\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.
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Disorder of cholesterol catabolism\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.

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

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 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

3905261000005113 3-beta-hydroxy-delta-5-C27-steroiddehydrogenasemangel da Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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.	Is a	Disorder of cholesterol catabolism	true	Inferred relationship	Some
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.	Finding site	Body system structure	false	Inferred relationship	Some
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.	Occurrence	Congenital	false	Inferred relationship	Some
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.	Is a	Synthetic defect of bile acids	true	Inferred relationship	Some
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.	Finding site	Liver structure	true	Inferred relationship	Some	1
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.	Occurrence	Congenital	true	Inferred relationship	Some	2
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.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

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Id	Description	Lang	Type	Status	Case?	Module
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	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
3905261000005113	3-beta-hydroxy-delta-5-C27-steroiddehydrogenasemangel	da	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Danish module (core metadata concept)