717047007: Bile acid coenzyme A ligase deficiency and defective amidation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Finding of trunk structure\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\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\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Disease\Disorder of body system\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Disease\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\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\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)
• \Disease\Metabolic disease\Disorder of lipid metabolism\Synthetic defect of bile acids\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\Bile acid coenzyme A ligase deficiency and defective amidation (disorder)

Status: current. Date: 31-Jul 2016

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
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	Inactive	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

Expanded Value Set

This concept is not in any reference sets

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