1264565005: Familial lecithin cholesterol acyltransferase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Corneal finding\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Corneal finding\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Finding of substance level (finding)\Finding of protein level (finding)\Lipoprotein below reference range (finding)\High density lipoprotein below reference range (finding)\Lecithin cholesterol acyltransferase deficiency\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.
• \Finding of substance level (finding)\Lipid level - finding\Cholesterol level - finding\Lecithin cholesterol acyltransferase deficiency\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.
• \Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Lipid below reference range (finding)\Lipoprotein below reference range (finding)\High density lipoprotein below reference range (finding)\Lecithin cholesterol acyltransferase deficiency\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.
• \Measurement finding outside reference range\Measurement finding below reference range (finding)\Lipid below reference range (finding)\Lipoprotein below reference range (finding)\High density lipoprotein below reference range (finding)\Lecithin cholesterol acyltransferase deficiency\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.
• \Measurement finding outside reference range\Lipids outside reference range\Lipid below reference range (finding)\Lipoprotein below reference range (finding)\High density lipoprotein below reference range (finding)\Lecithin cholesterol acyltransferase deficiency\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.
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Corneal finding\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Corneal finding\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Disease\Genetic disease\Lecithin cholesterol acyltransferase deficiency\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.
• \Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Lecithin cholesterol acyltransferase deficiency\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.
• \Disease\Familial disease\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.
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipoprotein deficiency disorder\Hypoalphalipoproteinemia\Lecithin cholesterol acyltransferase deficiency\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.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5173422015	Familial lecithin cholesterol acyltransferase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5173423013	Familial lecithin cholesterol acyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5173424019	Complete LCAT deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5173425018	Norum disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5173426017	Complete LCAT (lecithin-cholesterol acyltransferase) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5173427014	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5173428016	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5173422015	Familial lecithin cholesterol acyltransferase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5173423013	Familial lecithin cholesterol acyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5173424019	Complete LCAT deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5173425018	Norum disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5173426017	Complete LCAT (lecithin-cholesterol acyltransferase) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5173427014	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5173428016	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
531961000274115	Familiärer LCAT-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
595171000274118	Familiärer Lezithin-Cholesterin-Azyltransferase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
531961000274115	Familiärer LCAT-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
595171000274118	Familiärer Lezithin-Cholesterin-Azyltransferase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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