700463002: Alpha-methylacyl-CoA racemase deficiency disorder (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\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Synthetic defect of bile acids\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \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\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \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\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \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\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \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\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \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\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\General loss of peroxisomal function\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\General loss of peroxisomal function\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Disease\Fetal and/or neonatal disorder\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Synthetic defect of bile acids\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \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\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \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\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\General loss of peroxisomal function\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Synthetic defect of bile acids\An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4570903015	An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4570904014	An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, hematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2990662014	Alpha-methylacyl-CoA racemase deficiency disorder	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2990699014	Alpha-methylacyl-CoA racemase deficiency disorder (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2990734011	AMACR deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4570900017	Congenital bile acid synthesis defect type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6005571000241113	déficit en alpha-méthylacyl-CoA racémase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6005581000241110	déficit en AMACR (alpha-méthylacyl-CoA racémase)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3429151001000111	Gallensäuresynthesedefekt, kongenitaler, Typ 4	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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