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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/720940008
http://purl.bioontology.org/ontology/SNOMEDCT/720940008
|
|---|---|
| Preferred Name | Hepatic lipase deficiency |
| Definitions |
A disorder that affects the ability to break down lipids leading to increased amounts of triglycerides and cholesterol in the blood. Caused by mutations in the lipase C hepatic type (LIPC) gene. This gene provides instructions for making hepatic lipase. LIPC gene mutations prevent the release of hepatic lipase from the liver or decrease the enzyme's activity in the bloodstream. As a result very low-density lipoproteins and intermediate-density lipoproteins are not efficiently converted into LDLs, and HDLs carrying cholesterol and triglyceride remain in the bloodstream. It is unclear what effect this change in lipid levels has on people with hepatic lipase deficiency.
A rare hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.
A rare hyperalphalipoproteinaemia characterised by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.
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| Synonyms |
Hyperlipidaemia due to hepatic triglyceride lipase deficiency
Hyperlipidemia due to hepatic triglyceride lipase deficiency
Hepatic lipase deficiency (disorder)
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A disorder that affects the ability to break down lipids leading to increased amounts of triglycerides and cholesterol in the blood. Caused by mutations in the lipase C hepatic type (LIPC) gene. This gene provides instructions for making hepatic lipase. LIPC gene mutations prevent the release of hepatic lipase from the liver or decrease the enzyme's activity in the bloodstream. As a result very low-density lipoproteins and intermediate-density lipoproteins are not efficiently converted into LDLs, and HDLs carrying cholesterol and triglyceride remain in the bloodstream. It is unclear what effect this change in lipid levels has on people with hepatic lipase deficiency. A rare hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated. A rare hyperalphalipoproteinaemia characterised by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated. |
|---|---|
| prefLabel | Hepatic lipase deficiency
|
| altLabel |
Hyperlipidaemia due to hepatic triglyceride lipase deficiency
Hyperlipidemia due to hepatic triglyceride lipase deficiency
Hepatic lipase deficiency (disorder)
|
| Type ID |
900000000000003001
900000000000013009
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| Semantic type UMLS property | |
| Effective time | 20170131
|
| cui | C3151466
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| CTV3ID | XUuWT
|
| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID | 900000000000448009
|
| tui | T047
|
| Active | 1
|
| notation | 720940008
|
| type | |
| subClassOf | |
| Subset member |
447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
6011000124106~MAPADVICE~ALWAYS E78.89
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS E78.4
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
900000000000497000~MAPTARGET~XUuWT
6011000124106~MAPRULE~TRUE
447562003~MAPTARGET~E78.4
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~E78.89
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