719454003: congenitaal defect van galzuursynthese type 3 (aandoening)

• 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)\Congenital bile acid synthesis defect type 3 (disorder)
• \Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \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 (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \Finding of trunk structure\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 (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \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)\Congenital bile acid synthesis defect type 3 (disorder)
• \Finding of trunk structure\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 (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \Finding of trunk structure\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 (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital bile acid synthesis defect type 3 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \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 (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \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 (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Congenital bile acid synthesis defect type 3 (disorder)
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Synthetic defect of bile acids (disorder)\Congenital bile acid synthesis defect type 3 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3316420016	Congenital bile acid synthesis defect type 3 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316421017	Congenital bile acid synthesis defect type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316422012	Oxysterol 7-alpha hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5922081000146112	aangeboren galzuursynthesedefect type 3	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6988081000146119	congenitaal defect van galzuursynthese type 3 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6988091000146117	congenitaal defect van galzuursynthese type 3	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3316423019	A severe anomaly of bile acid synthesis with manifestation of severe neonatal cholestatic liver disease. To date, only 2 cases of this disorder have been reported. Caused by mutations in the 7-alpha hydroxylase gene (CYP7B1, 8q21.3). The deficiency in oxysterol 7-alpha-hydroxylation leads to the accumulation of hepatotoxic unsaturated monohydroxy bile acids. The mode of transmission is presumed to be autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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