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 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)\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)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\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)\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)\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 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)\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 trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\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)
\Disease\Congenital disease (disorder)\Inborn error of 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

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

9998731000172116 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) Belgian module (core metadata concept)

4757851000172117 galzuur-CoA-ligasedeficiëntie en defect van amidatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4757861000172115 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) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Bile acid coenzyme A ligase deficiency and defective amidation (disorder)	Is a	Synthetic defect of bile acids (disorder)	true	Inferred relationship	Some
Bile acid coenzyme A ligase deficiency and defective amidation (disorder)	Occurrence	Infancy	false	Inferred relationship	Some	1
Bile acid coenzyme A ligase deficiency and defective amidation (disorder)	Finding site	Liver structure	true	Inferred relationship	Some	2
Bile acid coenzyme A ligase deficiency and defective amidation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

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	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
9998731000172116	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)	Belgian module (core metadata concept)
4757851000172117	galzuur-CoA-ligasedeficiëntie en defect van amidatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4757861000172115	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)	Belgian module (core metadata concept)