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

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Bile acid CoA ligase deficiency and defective amidation
• \Digestive system finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Bile acid CoA ligase deficiency and defective amidation
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\Bile acid CoA ligase deficiency and defective amidation
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Bile acid CoA ligase deficiency and defective amidation
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Bile acid CoA ligase deficiency and defective amidation
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Bile acid CoA ligase deficiency and defective amidation
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Bile acid CoA ligase deficiency and defective amidation
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\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\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipid metabolism disorder\Synthetic defect of bile acids\Bile acid CoA ligase deficiency and defective amidation
• \Disease\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids\Bile acid CoA ligase deficiency and defective amidation

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3308275012	Bile acid coenzyme A ligase deficiency and defective amidation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3308276013	Bile acid CoA ligase deficiency and defective amidation	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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