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28036006: High density lipoprotein cholesterol measurement (procedure)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
46931018 High density lipoprotein cholesterol measurement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
46935010 HDL cholesterol measurement en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
483732011 HDLC - High density lipoprotein cholesterol level en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
483733018 HDL - High density lipoprotein cholesterol level en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
758671018 High density lipoprotein cholesterol measurement (procedure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1225750018 High density lipoprotein cholesterol level en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4796871000005117 måling af højdensitetslipoproteinkolesterol da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


7 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
High density lipoprotein cholesterol measurement Is a Total cholesterol measurement false Inferred relationship Some
High density lipoprotein cholesterol measurement Is a Protein measurement false Inferred relationship Some
High density lipoprotein cholesterol measurement Method Investigation - action false Inferred relationship Some
High density lipoprotein cholesterol measurement Has intent Diagnostic intent (qualifier value) false Inferred relationship Some
High density lipoprotein cholesterol measurement Has measured component HDL cholesterol false Inferred relationship Some
High density lipoprotein cholesterol measurement Component HDL cholesterol true Inferred relationship Some 1
High density lipoprotein cholesterol measurement Method Evaluation - action false Inferred relationship Some
High density lipoprotein cholesterol measurement Is a Cholesterol measurement true Inferred relationship Some
High density lipoprotein cholesterol measurement Method Measurement - action false Inferred relationship Some 2
High density lipoprotein cholesterol measurement Is a High density lipoprotein measurement true Inferred relationship Some
High density lipoprotein cholesterol measurement Method Measurement - action true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
High density lipoprotein/total cholesterol ratio measurement (procedure) Is a True High density lipoprotein cholesterol measurement Inferred relationship Some
Serum HDL cholesterol measurement Is a True High density lipoprotein cholesterol measurement Inferred relationship Some
Serum fasting HDL cholesterol measurement Is a False High density lipoprotein cholesterol measurement Inferred relationship Some
Serum random HDL cholesterol measurement Is a False High density lipoprotein cholesterol measurement Inferred relationship Some
Plasma random HDL cholesterol measurement Is a False High density lipoprotein cholesterol measurement Inferred relationship Some
Plasma fasting HDL cholesterol measurement Is a False High density lipoprotein cholesterol measurement Inferred relationship Some
Plasma HDL cholesterol measurement Is a True High density lipoprotein cholesterol measurement Inferred relationship Some
A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia 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 catalyzes 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. Interprets True High density lipoprotein cholesterol measurement Inferred relationship Some 2
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. Interprets True High density lipoprotein cholesterol measurement Inferred relationship Some 2
A form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterised 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 grey-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. Interprets True High density lipoprotein cholesterol measurement Inferred relationship Some 1

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