hyperlipoproteinemia type i

Preferred Label : hyperlipoproteinemia type i;

MeSH definition : An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing.;

MeSH synonym : hyperchylomicronemia, familial; Hyperlipoproteinemia Type Is; Familial Hyperlipoproteinemia Type 1; Familial Hyperchylomicronemias; Hyperchylomicronemias, Familial; familial hyperchylomicronemia; hyperlipemia, idiopathic, Burger-Grutz type; lipase D deficiency; deficiencies, lipase D; deficiency, lipase D; lipase D deficiencies; lipoprotein lipase deficiency; deficiencies, lipoprotein lipase; deficiency, lipoprotein lipase; lipase deficiencies, lipoprotein; lipoprotein lipase deficiencies; hyperlipemia, essential familial; essential familial hyperlipemia; essential familial hyperlipemias; familial hyperlipemia, essential; familial hyperlipemias, essential; hyperlipemias, essential familial; hyperlipoproteinemia, type I; hyperlipoproteinemias, type I; type I hyperlipoproteinemia; type I hyperlipoproteinemias; lipoprotein lipase deficiency, familial; hyperlipoproteinemia, type ia; hyperlipoproteinemias, type ia; type ia hyperlipoproteinemia; type ia hyperlipoproteinemias; hyperlipoproteinemia type ia; hyperlipoproteinemia type ias; chylomicronemia, familial; chylomicronemias, familial; familial chylomicronemia; familial chylomicronemias; familial lipoprotein lipase deficiency; familial LPL deficiency; deficiencies, familial LPL; deficiency, familial LPL; familial LPL deficiencies; LPL deficiencies, familial; LPL deficiency, familial; LIPD deficiency; deficiencies, LIPD; deficiency, LIPD; LIPD deficiencies; Burger-Grutz syndrome; burger grutz syndrome; Burger-Grutz syndromes; syndrome, Burger-Grutz; syndromes, Burger-Grutz;

MeSH hyponym : apolipoprotein C-II deficiency; Apolipoprotein C II Deficiency; Apolipoprotein C-II Deficiencies; Deficiencies, Apolipoprotein C-II; Deficiency, Apolipoprotein C-II; Hyperlipoproteinemia, Type Ib; Hyperlipoproteinemias, Type Ib; Type Ib Hyperlipoproteinemia; Type Ib Hyperlipoproteinemias; Hyperlipoproteinemia Type Ib; Hyperlipoproteinemia Type Ibs; C-II Anapolipoproteinemia; Anapolipoproteinemia, C-II; Anapolipoproteinemias, C-II; C-II Anapolipoproteinemias; Familial Fat-Induced Hypertriglyceridemia; Familial Fat Induced Hypertriglyceridemia; Familial Fat-Induced Hypertriglyceridemias; Fat-Induced Hypertriglyceridemia, Familial; Fat-Induced Hypertriglyceridemias, Familial; Hypertriglyceridemia, Familial Fat-Induced; Hypertriglyceridemias, Familial Fat-Induced;

Wikipedia link : https://en.wikipedia.org/wiki/Familial hyperchylomicronemia;

Details

Origin ID

D008072;

UMLS CUI

C0023817;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- DEPDC5 wt Allele [NCIt concept]
- Familial apolipoprotein C-II deficiency [ORDO Disease]
- Hypercholesterolemia, familial, 1 [OMIM Phenotype]
- Hyperlipoproteinemia, type V [OMIM Phenotype]
- Lipoprotein lipase deficiency [PASCAL descriptor]
- Remnant hyperlipidaemia [MedDRA Preferred Term]
- Type II hyperlipoproteinemia [MedDRA LLT]
- familial apolipoprotein C-II deficiency [DO Concept]
- familial apolipoprotein c-ii deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- Familial hyperchylomicronemia (disorder) [SNOMED CT concept]
- Familial lipoprotein lipase deficiency [ORDO Disease]
- Familial lipoprotein lipase deficiency [ICD-11 More detail]
- Familial lipoprotein lipase deficiency (disorder) [SNOMED CT concept]
- Fredrickson type I hyperlipoproteinemia (disorder) [SNOMED CT concept]
- Hyperchylomicronaemia [MedDRA Preferred Term]
- Hyperlipoproteinaemia type 1 [ICD-11 More detail]
- Hyperlipoproteinemia type 1 [ORDO Disease]
- Hyperlipoproteinemia, Type I [NCIt concept]
- Hyperlipoproteinemia, type I [OMIM Phenotype]
- Type I hyperlipoproteinaemia [MedDRA LLT]
- Type I hyperlipoproteinemia [MedDRA LLT]
- familial lipoprotein lipase deficiency [SNOMED Notion]
- familial lipoprotein lipase deficiency [DO Concept]
- hyperlipoproteinemia type I [Disease (Nov.)]
DO Cross reference
- familial apolipoprotein C-II deficiency [DO Concept]
- familial lipoprotein lipase deficiency [DO Concept]
Manual NTBT mappings (CISMeF)
- Rare major hypertriglyceridemia [ORDO Disease]
ORDO relation(s)
- Hyperlipoproteinemia type 1 [ORDO Disease]
Record concept(s)
- apolipoprotein C-II deficiency [MeSH concept]
- hyperlipoproteinemia type I [MeSH concept]
Related MeSH Supplementary Concept(s)
- familial hyperchylomicronemia syndrome [MeSH Supplementary Concept]
See also
- apolipoprotein c-ii [MeSH Descriptor]
- lipoprotein lipase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hyperchylomicronemia (disorder) [SNOMED CT concept]
- Familial lipoprotein lipase deficiency [ORDO Disease]
- Familial lipoprotein lipase deficiency [ICD-11 More detail]
- Familial lipoprotein lipase deficiency (disorder) [SNOMED CT concept]
- Familial lipoprotein lipase deficiency with type I phenotype (disorder) [SNOMED CT concept]
- Fredrickson type I hyperlipoproteinemia (disorder) [SNOMED CT concept]
- Hyperchylomicronaemia [ICD-10 Sub-category (who)]
- Hyperchylomicronemia [ICD-9 code]
- Hyperchylomicronemia [MedDRA LLT]
- Hyperchylomicronemia [ICD-10 Sub-category]
- Hyperlipoproteinemia type 1 [ORDO Disease]
- Hyperlipoproteinemia, Type I [NCIt concept]
- Hyperlipoproteinemia, type I [OMIM Phenotype]
- Lipoprotein-lipase deficiency [MedDRA LLT]
- Type I hyperlipoproteinaemia [MedDRA LLT]
- Type I hyperlipoproteinemia [MedDRA LLT]
- familial lipoprotein lipase deficiency [SNOMED Notion]
- familial lipoprotein lipase deficiency [DO Concept]
Validated automatic mappings to BTNT
- Apolipoprotein C-ii deficiency [OMIM Phenotype]
- Familial apolipoprotein C-II deficiency [ORDO Disease]
- familial apolipoprotein c-ii deficiency [SNOMED Notion]

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