700463002: Alpha-methylacyl-CoA racemase deficiency disorder (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\Alpha-methylacyl-CoA racemase deficiency disorder
• \Digestive system finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Alpha-methylacyl-CoA racemase deficiency disorder
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\Alpha-methylacyl-CoA racemase deficiency disorder
• \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\Alpha-methylacyl-CoA racemase deficiency disorder
• \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\Alpha-methylacyl-CoA racemase deficiency disorder
• \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\Alpha-methylacyl-CoA racemase deficiency disorder
• \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\Alpha-methylacyl-CoA racemase deficiency disorder
• \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\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\Hereditary disorder by system\Digestive system hereditary disorder\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\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\Alpha-methylacyl-CoA racemase deficiency disorder
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\Alpha-methylacyl-CoA racemase deficiency disorder
• \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\Alpha-methylacyl-CoA racemase deficiency disorder
• \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\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\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Alpha-methylacyl-CoA racemase deficiency disorder
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipid metabolism disorder\Synthetic defect of bile acids\Alpha-methylacyl-CoA racemase deficiency disorder
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\General loss of peroxisomal function\Alpha-methylacyl-CoA racemase deficiency disorder
• \Disease\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids\Alpha-methylacyl-CoA racemase deficiency disorder

Status: current, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2990662014	Alpha-methylacyl-CoA racemase deficiency disorder	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2990699014	Alpha-methylacyl-CoA racemase deficiency disorder (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
2990734011	AMACR deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
4570900017	Congenital bile acid synthesis defect type 4	en	Synonym	Active	Case insensitive	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	Case sensitive	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	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

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