Code System Concept

Code System Concept

Code System Concept Code	238091006
Code System Concept Name	Lecithin cholesterol acyltransferase deficiency (disorder)
Code System Preferred Concept Name	Lecithin cholesterol acyltransferase deficiency (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description	A rare lipoprotein metabolism disorder characterized clinically by corneal opacities and sometimes renal failure and hemolytic anemia, 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 characterized by corneal opacities, anemia and renal insufficiency, and Fish-eye disease characterized by corneal opacities and sometimes atherosclerosis. LCAT deficiency is caused by deficient or absent catalytic activity of the LCAT enzyme, which catalyzes 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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
356906011	Lecithin cholesterol acyltransferase deficiency	Active	Synonym	false	false
5173411019	LCAT (lecithin-cholesterol acyltransferase) deficiency	Active	Synonym	false	false
5173412014	LCAT deficiency	Active	Synonym	false	false

Associated Value Sets

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Other Relationships

No other relationships present.

Child Concepts

Lecithin cholesterol acyltransferase deficiency (disorder) {238091006 , SNOMED-CT }

Parent/Child (Relationship Type)