700463002: Alpha-methylacyl-CoA racemase deficiency disorder (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\Alpha-methylacyl-CoA racemase deficiency disorder
• \Finding of trunk structure\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Alpha-methylacyl-CoA racemase deficiency disorder
• \Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Alpha-methylacyl-CoA racemase deficiency disorder
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\General loss of peroxisomal function\Alpha-methylacyl-CoA racemase deficiency disorder
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Alpha-methylacyl-CoA racemase deficiency disorder
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alpha-methylacyl-CoA racemase deficiency disorder
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\General loss of peroxisomal function\Alpha-methylacyl-CoA racemase deficiency disorder
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids\Alpha-methylacyl-CoA racemase deficiency disorder
• \Disease\Disorder of body system\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Alpha-methylacyl-CoA racemase deficiency disorder
• \Disease\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Alpha-methylacyl-CoA racemase deficiency disorder
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\General loss of peroxisomal function\Alpha-methylacyl-CoA racemase deficiency disorder
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Alpha-methylacyl-CoA racemase deficiency disorder
• \Disease\Metabolic disease\Disorder of lipid metabolism\Synthetic defect of bile acids\Alpha-methylacyl-CoA racemase deficiency disorder
• \Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Alpha-methylacyl-CoA racemase deficiency disorder

Status: current. Date: 31-Jul 2014

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
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
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

Expanded Value Set

Reference Sets

US English

Congenital syphilitic hepatomegaly

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