723579009: Tangier disease (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Inborn error of lipoprotein metabolism\Familial lipoprotein deficiency\Tangier disease
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tangier disease
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of lipoprotein metabolism\Familial lipoprotein deficiency\Tangier disease
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipoprotein deficiency disorder\Tangier disease
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Inborn error of lipoprotein metabolism\Familial lipoprotein deficiency\Tangier disease
• \Congenital disease\Inborn error of metabolism\Inborn error of lipoprotein metabolism\Familial lipoprotein deficiency\Tangier disease

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3425161019	Tangier disease (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3425162014	Tangier disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3425163016	Defective adenosine triphosphate-binding cassette transporter A1	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3425164010	A rare lipoprotein metabolism disorder with biochemical characteristics of an almost complete absence of plasma high-density lipoproteins (HDL) and clinical characteristics of liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents and occasionally cardiovascular disease in adults. Approximately 100 cases have been described worldwide. The disease is due to mutations in the ABCA1 gene (9q31) encoding the ATP-binding cassette transporter (ABC1), a cholesterol efflux regulatory protein that is able to orient cellular cholesterol towards the cell surface and to facilitate its transfer towards the core of HDL. Mutations in this gene result in severe deficiency of plasma HDL cholesterol and deposition of cholesteryl and retinyl esters and carotenoids in nonadipose tissues. 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

Problem/Diagnosis reference set

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