190785000: Hypoalphalipoproteinemia (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipoprotein deficiency disorder\Hypoalphalipoproteinaemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

293304017 Hypoalphalipoproteinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

293305016 Hypoalphalipoproteinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

574410010 Hypoalphalipoproteinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2091161000005119 hypoalfalipoproteinæmi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypoalphalipoproteinaemia	Is a	Lipoprotein deficiency disorder	true	Inferred relationship	Some
Hypoalphalipoproteinaemia	Finding site	Body system structure	false	Inferred relationship	Some
Hypoalphalipoproteinaemia	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare lipoprotein metabolism disorder characterised clinically by corneal opacities and sometimes renal failure and haemolytic anaemia, and biochemically by severely reduced HDL cholesterol. Age of onset is variable but most patients are diagnosed during adulthood. Two familial forms of LCAT deficiency have been reported: familial LCAT deficiency characterised by corneal opacities, anaemia and renal insufficiency and Fish-eye disease characterised by corneal opacities and sometimes atherosclerosis. LCAT deficiency is caused by deficient or absent catalytic activity of the LCAT enzyme, which catalyses the formation of cholesterol esters in lipoproteins and is encoded by the LCAT gene (16q22.1). Accumulation of unesterified cholesterol in the body for example in the cornea, erythrocytes and kidneys, is thought to underlie the clinical manifestations.	Is a	True	Hypoalphalipoproteinaemia	Inferred relationship	Some
Family history of hypoalphalipoproteinaemia	Associated finding	True	Hypoalphalipoproteinaemia	Inferred relationship	Some	1

This concept is not in any reference sets