717047007: deficiëntie van galzuur-co-enzym A-ligase en defect van amidatie (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)\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Bile acid coenzyme A ligase deficiency and defective amidation (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)\Bile acid coenzyme A ligase deficiency and defective amidation (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)\Bile acid coenzyme A ligase deficiency and defective amidation (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)\Bile acid coenzyme A ligase deficiency and defective amidation (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)\Bile acid coenzyme A ligase deficiency and defective amidation (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)\Bile acid coenzyme A ligase deficiency and defective amidation (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)\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Bile acid coenzyme A ligase deficiency and defective amidation (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)\Bile acid coenzyme A ligase deficiency and defective amidation (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)\Bile acid coenzyme A ligase deficiency and defective amidation (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)\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Synthetic defect of bile acids (disorder)\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308274011	Bile acid coenzyme A ligase deficiency and defective amidation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308275012	Bile acid coenzyme A ligase deficiency and defective amidation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308276013	Bile acid CoA ligase deficiency and defective amidation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7601061000146117	galzuur-CoA-ligasedeficiëntie en defect van amidatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8637441000146116	deficiëntie van galzuur-co-enzym A-ligase en defect van amidatie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9049671000146114	deficiëntie van galzuur-co-enzym A-ligase en defect van amidatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3308277016	Anomaly of bile acid synthesis with manifestation of fat malabsorption, neonatal cholestasis and growth failure. Prevalence is unknown. Only 8 cases have been reported. Patients present with a history of neonatal cholestasis, fat and fat-soluble vitamin malabsorption and growth failure. Several mutations in the bile acid-CoA ligase gene have been found in most patients with this defect. The mode of transmission of these mutations is not known.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

Back to Start