Code System Concept

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Code System Concept

Code System Concept Code	1264565005
Code System Concept Name	Familial lecithin cholesterol acyltransferase deficiency (disorder)
Code System Preferred Concept Name	Familial lecithin cholesterol acyltransferase deficiency (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

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Superseded By Concept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	03/01/2024
SDO Date Created	02/28/2023
SDO Date Revised	02/28/2023
Description	A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterised clinically by corneal opacities, haemolytic anaemia and renal failure and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. Age of onset and severity of clinical manifestations are variable. Caused by mutations in the LCAT gene (16q22.1) encoding the LCAT enzyme which catalyses the formation of cholesterol esters in lipoproteins, leading to progressive lipid deposition in body tissues. There is no clear genotype-phenotype correlation since family members with the same mutation have been found to have different clinical and biochemical pictures. Environmental factors or other minor genes may therefore also be involved in the disorder.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5173423013	Familial lecithin cholesterol acyltransferase deficiency	Active	Synonym	false	false
5173424019	Complete LCAT deficiency	Active	Synonym	false	false
5173425018	Norum disease	Active	Synonym	false	false
5173426017	Complete LCAT (lecithin-cholesterol acyltransferase) deficiency	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Familial disease (disorder) {111941005 , SNOMED-CT } Lecithin cholesterol acyltransferase deficiency (disorder) {238091006 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,