Code System Concept

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Code System Concept

Code System Concept Code	238092004
Code System Concept Name	Fish-eye disease (disorder)
Code System Preferred Concept Name	Fish-eye disease (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Superseded By Concept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	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description	A form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. The disease is very rare. Corneal opacities are progressive and are observed from an early age (adolescence or young adulthood) and sometimes result in visual impairment. These lesions are generally more severe than in complete LCAT deficiency and form a mosaic pattern of small dot-like gray-white opacities. Signs of atherosclerosis have only been reported in rare cases although patients have low HDL cholesterol levels. In patients with this disorder, alpha-LCAT activity is abolished, but beta-LCAT activity is preserved. Impaired enzyme function is thought to result in deposition of lipids in the cornea. The disease follows an autosomal recessive pattern of inheritance.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
356907019	Fish-eye disease	Active	Synonym	false	false
356908012	FED - Fish-eye disease	Active	Synonym	false	false
5173418013	Partial LCAT (lecithin-cholesterol acyltransferase) deficiency	Active	Synonym	false	false
5173419017	Partial LCAT deficiency	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Chronic metabolic disorder (disorder) {128289001 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , 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,