loading...| Preferred Name | Hyperlipoproteinemia Type I | |
| Synonyms |
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| Definitions |
A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00038552 |
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| Database_Cross_Reference |
CHV:0000007469 MTH:NOCODE DXP:U000874 MEDCIN:338584 MSH:D008072 MDR:10064705 OMIM:238600 SNOMEDCT_US:267435002 CHV:0000057123 ICD10AM:E78.3 MEDCIN:33564 CSP:1849-4577 SNMI:D6-60400 ICD9CM:272.3 ICD10:E78.3 RCD:XE11V SNOMEDCT_US:238039006 RCDAE:X40Vh DO:DOID:14118 ICD10CM:E78.3 NCI:C84771 ICD10AMAE:E78.3 SNOMEDCT_US:403827000 RCDAE:XE11V MTHICD9:272.3 MDR:10020607 SNM:D-1361 SNOMEDCT_US:238086005 RCD:X40Vh SNOMEDCT_US:34171006 NDFRT:N0000001857 OMIM:609708 OMIM:MTHU047413 SNOMEDCT_US:275598004 MDR:10064612 DXP:NOCODE MEDCIN:214034 MEDCIN:33572 RCDAE:X40XD SNOMEDCT_US:190781009 RCD:X40XD MDR:10020606 |
|
| Definition |
A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. |
|
| label |
Hyperlipoproteinemia Type I |
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| MCID |
MC00007614 |
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| PMOID |
PMO:00038552 |
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| prefixIRI |
pmo:PMO_00038552 |
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| prefLabel |
Hyperlipoproteinemia Type I |
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| Synonym |
Familial type I hyperlipoproteinemia LPL DEFICIENCY Hepatosplenomegalic lipoidosis HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPE Familial lipoprotein lipase deficiency with type I phenotype (disorder) Hyperlipidemia, group D Mixed hyperglyceridemia Burger-Grutz Syndromes Burger Grutz Syndrome Familial fat-induced hypertriglyceridaemia Type I hyperlipoproteinemia LIPOPROTEIN LIPASE DEFIC FAMILIAL Syndrome, Burger-Grutz Burger Grutz syndrome Hyperlipemia, Essential Familial Fredrickson type I or V hyperlipoproteinemia Primary hyperchylomicronaemia Hyperlipoproteinemia Type Is FAMILIAL LIPOPROTEIN LIPASE DEFIC Lipoprotein Lipase Deficiency Hyperlipoproteinemia, Frederickson type I Familial lipoprotein lipase deficiency with type I phenotype Deficiency, LIPD Familial hyperlipoproteinaemia, type I Hyperlipoproteinemia Type Ia Fredrickson type I hyperlipoproteinemia (disorder) ENDOGENOUS HYPERTRIGLYCERIDEMIA type i hyperlipoproteinemia Essential Familial Hyperlipemias Deficiencies, Familial LPL Hyperlipidemia, Group D Familial Hyperchylomicronemia Hyperlipoproteinemia, type I LPL Deficiencies, Familial Hyperlipoproteinemia, Type Ia LIPD Deficiencies endogenous hypertriglyceridemia Hyperchylomicronemia, Familial HYPERLIPOPROTEINEMIA, TYPE IA Familial Hyperlipemia, Essential Familial hyperchylomicronemia (disorder) Lipoprotein Lipase Deficiencies hyperchylomicronemia (diagnosis) Hyperlipoproteinemias, Type Ia Hyperlipoproteinemia Type I [Disease/Finding] Endogenous hypertriglyceridaemia Deficiencies, Lipoprotein Lipase familial lipoprotein lipase deficiency Familial hyperlipoproteinemia, type I Essential Familial Hyperlipemia Famil lipoprotein lipase defic Chylomicronemias, Familial Lipase D Deficiencies Familial lipoprotein lipase deficiency Hyperchylomicronaemia Hyperlipoproteinaemia, type I Syndromes, Burger-Grutz HYPERLIPOPROTEINEMIA, TYPE I Chylomicronemia, Familial Hyperlipoproteinemias, Type I Deficiencies, LIPD LIPOPROTEIN LIPASE DEFICIENCY hyperlipoproteinemia type i Deficiency, Lipase D Fred type I hypelipoprotemia Deficiencies, Lipase D Familial hyperchylomicronaemia Primary hyperchylomicronemia Type Ia Hyperlipoproteinemia Fredrickson's hyperlipoproteinemia, type I or V Familial Chylomicronemia Hypercholesterinemic xanthomatosis Frederickson type I hyperlipidemia (diagnosis) mixed hyperglyceridemia Hyperlipoproteinemia, Type I Familial hyperchylomicronemia Frederickson type I hyperlipidemia Fredrickson type I hyperlipoproteinaemia HYPERCHYLOMICRONEMIA, FAMILIAL Lipoprotein Lipase Deficiency, Familial hyperlipoproteinemia type I (diagnosis) familial chylomiconemia syndrome Fredrickson type I lipemia burger-grutz syndrome familial hyperlipoproteinemia type I Familial Lipoprotein Lipase Deficiency Familial Chylomicronemias Familial Hyperchylomicronemias BUERGER-GRUETZ SYNDROME Hyperlipoproteinemia Type Ias Burger-Grutz syndrome Fredrickson type I hyperlipoproteinemia hypercholesterinaemic xanthomatosis LIPASE D DEFICIENCY HYPERLIPOPROTEINEMIA TYPE 01 Deficiency, Familial LPL Hyperlipemia, Idiopathic, Burger-Grutz Type FAMILIAL HYPERCHYLOMICRONEMIA Type Ia Hyperlipoproteinemias Familial type I hyperlipoproteinaemia Familial Hyperlipemias, Essential Lipase D Deficiency Hypercholesterinaemic xanthomatosis Familial Hyperlipoproteinemia Type 1 HYPERLIPEMIA, ESSENTIAL FAMILIAL Burger-Grutz Syndrome Fredrickson type I lipaemia Lipase Deficiencies, Lipoprotein Hyperchylomicronemia Type I hyperlipoproteinaemia familial lipoprotein lipase deficiency (diagnosis) LPL Deficiency, Familial Familial fat-induced hypertriglyceridemia hyperlipoproteinemia type I Familial LPL Deficiencies Deficiency, Lipoprotein Lipase Familial lipoprotein lipase deficiency (disorder) [Ambiguous] hyperchylomicronemia Hyperlipemias, Essential Familial familial hyperchylomicronemia HYPERLIPEMIA, RETENTION Hyperchylomicronemias, Familial Type I Hyperlipoproteinemias Type I Hyperlipoproteinemia CHYLOMICRONEMIA, FAMILIAL Familial LPL Deficiency familial LPL deficiency LIPD DEFICIENCY Endogenous hypertriglyceridemia Familial LPL deficiency HYPERLIPEMIA, IDIOPATHIC FAMILIAL LIPD Deficiency Familial lipoprotein lipase deficiency (disorder) HYPERLIPOPROTEINEMIA TYPE I |
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| Tree Number |
T9.11.1.12.7.7 T9.8.4.14.7.7 T9.11.1.2.6.7 T9.11.1.2.4.3.3.1 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00004084 |