Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 356906011 | Lecithin cholesterol acyltransferase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 626925017 | Lecithin cholesterol acyltransferase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5173411019 | LCAT (lecithin-cholesterol acyltransferase) deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5173412014 | LCAT deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5173414010 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5173415011 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Lecithin cholesterol acyltransferase deficiency | Is a | Congenital anomaly of the hematopoietic system | false | Inferred relationship | Some | ||
| Lecithin cholesterol acyltransferase deficiency | Is a | Erythrocyte membrane abnormality | false | Inferred relationship | Some | ||
| Lecithin cholesterol acyltransferase deficiency | Is a | Hereditary disorder of hematologic system | false | Inferred relationship | Some | ||
| Lecithin cholesterol acyltransferase deficiency | Is a | Hypoalphalipoproteinaemia | true | Inferred relationship | Some | ||
| Lecithin cholesterol acyltransferase deficiency | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Lecithin cholesterol acyltransferase deficiency | Finding site | Erythrocyte | false | Inferred relationship | Some | 1 | |
| Lecithin cholesterol acyltransferase deficiency | Finding site | Hematopoietic system structure | false | Inferred relationship | Some | ||
| Lecithin cholesterol acyltransferase deficiency | Finding site | Hematopoietic system structure | false | Inferred relationship | Some | ||
| Lecithin cholesterol acyltransferase deficiency | Has definitional manifestation | Red blood cell finding | false | Inferred relationship | Some | ||
| Lecithin cholesterol acyltransferase deficiency | Is a | Corneal opacity | true | Inferred relationship | Some | ||
| Lecithin cholesterol acyltransferase deficiency | Finding site | Corneal structure | true | Inferred relationship | Some | 1 | |
| Lecithin cholesterol acyltransferase deficiency | Associated morphology | Opacity | true | Inferred relationship | Some | 1 | |
| Lecithin cholesterol acyltransferase deficiency | Is a | High density lipoprotein below reference range (finding) | true | Inferred relationship | Some | ||
| Lecithin cholesterol acyltransferase deficiency | Is a | Cholesterol level - finding | true | Inferred relationship | Some | ||
| Lecithin cholesterol acyltransferase deficiency | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Lecithin cholesterol acyltransferase deficiency | Interprets | High density lipoprotein cholesterol measurement | true | Inferred relationship | Some | 2 | |
| Lecithin cholesterol acyltransferase deficiency | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Fish-eye disease | Is a | True | Lecithin cholesterol acyltransferase deficiency | Inferred relationship | Some | |
| Familial lecithin cholesterol acyltransferase deficiency (disorder) | Is a | True | Lecithin cholesterol acyltransferase deficiency | Inferred relationship | Some |
This concept is not in any reference sets
FHIR