717047007: Bile acid coenzyme A ligase deficiency and defective amidation (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)\Bile acid CoA ligase deficiency and defective amidation
• \Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Bile acid CoA ligase deficiency and defective amidation
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Synthetic defect of bile acids (disorder)\Bile acid CoA ligase deficiency and defective amidation
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\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 CoA ligase deficiency and defective amidation
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)\Bile acid CoA ligase deficiency and defective amidation
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\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 CoA ligase deficiency and defective amidation
• \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 CoA ligase deficiency and defective amidation
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\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 CoA ligase deficiency and defective amidation
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\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 CoA ligase deficiency and defective amidation
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Synthetic defect of bile acids (disorder)\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Synthetic defect of bile acids (disorder)\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Synthetic defect of bile acids (disorder)\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\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 CoA ligase deficiency and defective amidation
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\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 CoA ligase deficiency and defective amidation
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Synthetic defect of bile acids (disorder)\Bile acid CoA ligase deficiency and defective amidation

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
5401469011	Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401470012	Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterised by fat malabsorption, neonatal cholestasis and growth failure.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
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
5401469011	Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401470012	Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterised by fat malabsorption, neonatal cholestasis and growth failure.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3430631001000119	Gallensäuren-CoA-Ligase-Mangel - Amidierungs-Defekt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5756331000241116	déficit en coenzyme A ligase des acides biliaires et défaut d'amidation	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5756331000241116	déficit en coenzyme A ligase des acides biliaires et défaut d'amidation	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3430631001000119	Gallensäuren-CoA-Ligase-Mangel - Amidierungs-Defekt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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