Preferred Label : Hyperlipoproteinaemia type 1;
ICD-11 definition : Type I hyperlipoproteinemia exists in several forms: Lipoprotein lipase deficiency
(Type Ia), due to a deficiency of lipoprotein lipase (LPL) or altered apolipoprotein
C2, resulting in elevated chylomicrons, the particles that transfer fatty acids from
the digestive tract to the liver. Familial apoprotein CII deficiency (Type Ib), a
condition caused by a lack of lipoprotein lipase activator. Chylomicronemia due to
circulating inhibitor of lipoprotein lipase (Type Ic). Type I hyperlipoproteinemia
usually presents in childhood with eruptive xanthomata and abdominal colic. Complications
include retinal vein occlusion, acute pancreatitis, steatosis and organomegaly, and
lipaemia retinalis.;
ICD-11 synonym : Bürger-Grütz syndrome; hypercholesterinaemic xanthomatosis; Fredrickson type 1 hyperlipoproteinaemia; familial type 1 hyperlipoproteinaemia; familial fat-induced hypertriglyceridaemia; mixed hyperglyceridaemia; endogenous hypertriglyceridaemia; familial hyperchylomicronaemia; hyperchylomicronaemia; hepatosplenomegalic lipoidosis; hyperlipoproteinaemia, type 1; primary hyperchylomicronaemia; familial lipoprotein lipase deficiency with type I phenotype; Hyperlipidaemia type 1;
ICD-11 inclusion : mixed familial hyperglyceridaemia; hyperchylomicronaemia with hyperbetalipoproteinaemia; hyperlipidaemia group D; Fredrickson type 5 hyperlipoproteinaemia; hyperbetalipoproteinaemia hyperchylomicronaemia; mixed hereditary hyperglyceridaemia; mixed pure hyperglyceridaemia; mixed essential hyperglyceridaemia; mixed endogenous hyperglyceridaemia;
Origin ID : 2104488268;
Currated CISMeF NLP mapping
- See also inter- (CISMeF)
- Validated automatic mappings to BTNT
Type I hyperlipoproteinemia exists in several forms: Lipoprotein lipase deficiency
(Type Ia), due to a deficiency of lipoprotein lipase (LPL) or altered apolipoprotein
C2, resulting in elevated chylomicrons, the particles that transfer fatty acids from
the digestive tract to the liver. Familial apoprotein CII deficiency (Type Ib), a
condition caused by a lack of lipoprotein lipase activator. Chylomicronemia due to
circulating inhibitor of lipoprotein lipase (Type Ic). Type I hyperlipoproteinemia
usually presents in childhood with eruptive xanthomata and abdominal colic. Complications
include retinal vein occlusion, acute pancreatitis, steatosis and organomegaly, and
lipaemia retinalis.
