@prefix jvr: . @prefix mesh: . @prefix skos: . @prefix dc: . @prefix xsd: . @prefix owl: . jvr:-FQLJ0C49-C mesh:allowableQualifier jvr:-XVHTZRCG-7, jvr:-CSKTXWF5-F, jvr:-CB30NGKB-3, jvr:-W6SQV79N-S, jvr:-DH7H9MJ2-N, jvr:-KFM33PF8-L, jvr:-ZJBZVRWR-8, jvr:-BT300B3G-Q, jvr:-WQ00QWRG-J, jvr:-B6C87218-T, jvr:-MDQBX560-1, jvr:-W4X1LN61-R, jvr:-P1X8SCQ6-K, jvr:-T1QJHLQ4-J, jvr:-S0CS1X5R-5, jvr:-BQ3W1P91-F, jvr:-BBD0S71C-R, jvr:-GXVR9QN8-P, jvr:-RC3PND0F-S, jvr:-SDXQ5280-F, jvr:-KRXG97RR-5, jvr:-WWJHCQRB-K, jvr:-W6T67RP3-2, jvr:-SDPG013V-D, jvr:-SBNWSM1T-R, jvr:-J9Z93VFN-9, jvr:-L6C0XPHT-4, jvr:-XV06LPML-W, jvr:-NHL3D2X0-S, jvr:-Z9TSGBXH-4, jvr:-JVKFK2NX-2, jvr:-HPKB70N8-W, jvr:-T6JZ48ZV-N, jvr:-VG20R78F-K ; skos:hiddenLabel "Familial Combined Hyperlipoproteinemia"@en, "Hypercholestérolémie par mutation du récepteurs LDL"@fr, "Hyperlipoprotéinémie de type IIb"@fr, "Hyperlipoprotéinémie à transmission autosomique dominante"@fr, "Hypercholesterolemia, Autosomal Dominant"@en, "LDL Receptor Disorder"@en, "Hyperlipoprotéinémie type 2a"@fr, "Hyperlipoprotéinémie de type 2a"@fr, "Apolipoprotein B-100, Familial Ligand-Defective"@en, "Hyperlipoproteinemia Type IIb"@en, "Maladie du récepteur des LDL"@fr, "Hyperlipoprotéinémie de type 2b"@fr, "Hyperlipoprotéinémie type 2b"@fr, "Apolipoprotein B-100, Familial Defective"@en, "Hyperlipoproteinemia, Type IIa"@en, "Hyperlipoprotéinémie de type IIa"@fr, "Hyperlipoproteinemia Type IIa"@en, "Hypercholesterolemia, Autosomal Dominant, Type B"@en ; skos:altLabel "Hypercholestérolémie essentielle"@fr, "Hyperlipoprotéinémie type 2"@fr, "Hyper-Low Density Lipoproteinemia"@en, "Hyperbêtalipoprotéinémie"@fr, "Hyperlipoproteinemia, Type II"@en, "Hyperlipoprotéinémie de type 2"@fr, "Hypercholesterolemic Xanthomatosis, Familial"@en, "Hyperlipoproteinemia Type 2"@en, "Hyper-Low-Density-Lipoproteinemia"@en, "Hypercholestérolémie familiale"@fr, "Hypercholesterolemia, Essential"@en, "Hyper-beta-Lipoproteinemia"@en, "Hyperbetalipoproteinemia"@en, "Hypercholesterolemia, Familial"@en ; skos:broader jvr:-DXC5ST6M-H, jvr:-RN2ZL4VG-R ; skos:narrower jvr:-BG1ZRJ43-0 ; dc:created "1979-04-23"^^xsd:date ; skos:related jvr:-VVPWWC2N-S ; skos:prefLabel "Hyperlipoprotéinémie de type II"@fr, "Hyperlipoproteinemia Type II"@en ; dc:established "1980-01-01"^^xsd:date ; skos:inScheme jvr: ; dc:modified "2021-06-30"^^xsd:date ; skos:definition "A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). Type IIb hyperlipoproteinemia is caused by mutation in the receptor-binding domain of APOLIPOPROTEIN B-100 which is a major component of LOW-DENSITY LIPOPROTEINS and VERY-LOW-DENSITY LIPOPROTEINS resulting in reduced clearance of these lipoproteins. It is characterized by both hypercholesterolemia and HYPERTRIGLYCERIDEMIA (combined hyperlipidemia). Hypercholesterolemia that is caused by mutation in the LOW DENSITY LIPOPROTEIN RECEPTOR gene. This receptor defect prevents LDL binding to the cell membrane and uptake of cholesterol which normally suppresses further cholesterol synthesis."@en ; a skos:Concept, mesh:Descriptor ; owl:sameAs . jvr:-WWJHCQRB-K skos:prefLabel "surgery (Qualifier)"@en, "chirurgie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-SDXQ5280-F skos:prefLabel "mortality (Qualifier)"@en, "mortalité (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-HPKB70N8-W skos:prefLabel "rehabilitation (Qualifier)"@en, "rééducation et réadaptation (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-VG20R78F-K skos:prefLabel "embryologie (Qualificatif)"@fr, "embryology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-Z9TSGBXH-4 skos:prefLabel "génétique (Qualificatif)"@fr, "genetics (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-L6C0XPHT-4 skos:prefLabel "métabolisme (Qualificatif)"@fr, "metabolism (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-WQ00QWRG-J skos:prefLabel "physiopathologie (Qualificatif)"@fr, "physiopathology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-DH7H9MJ2-N skos:prefLabel "anatomopathologie (Qualificatif)"@fr, "pathology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-MDQBX560-1 skos:prefLabel "radiotherapy (Qualifier)"@en, "radiothérapie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-ZJBZVRWR-8 skos:prefLabel "parasitologie (Qualificatif)"@fr, "parasitology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-W6T67RP3-2 skos:prefLabel "diagnostic imaging (Qualifier)"@en, "imagerie diagnostique (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-B6C87218-T skos:prefLabel "prévention et contrôle (Qualificatif)"@fr, "prevention & control (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-BQ3W1P91-F skos:prefLabel "thérapie (Qualificatif)"@fr, "therapy (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-DXC5ST6M-H skos:prefLabel "Lipid Metabolism, Inborn Errors"@en, "Erreurs innées du métabolisme lipidique"@fr ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-FQLJ0C49-C . jvr:-KRXG97RR-5 skos:prefLabel "diagnostic (Qualificatif)"@fr, "diagnosis (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-BG1ZRJ43-0 skos:prefLabel "Hypercholestérolémie familiale homozygote"@fr, "Homozygous Familial Hypercholesterolemia"@en ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-FQLJ0C49-C . jvr:-RN2ZL4VG-R skos:prefLabel "Hyperlipoproteinemias"@en, "Hyperlipoprotéinémies"@fr ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-FQLJ0C49-C . jvr:-J9Z93VFN-9 skos:prefLabel "enzymology (Qualifier)"@en, "enzymologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-T1QJHLQ4-J skos:prefLabel "microbiology (Qualifier)"@en, "microbiologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-VVPWWC2N-S skos:prefLabel "Cholestérol alimentaire"@fr, "Cholesterol, Dietary"@en ; a mesh:Descriptor, skos:Concept ; skos:related jvr:-FQLJ0C49-C . jvr:-KFM33PF8-L skos:prefLabel "médecine vétérinaire (Qualificatif)"@fr, "veterinary (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr: a skos:ConceptScheme . jvr:-BBD0S71C-R skos:prefLabel "induit chimiquement (Qualificatif)"@fr, "chemically induced (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-XVHTZRCG-7 skos:prefLabel "étiologie (Qualificatif)"@fr, "etiology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-P1X8SCQ6-K skos:prefLabel "virologie (Qualificatif)"@fr, "virology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-T6JZ48ZV-N skos:prefLabel "complications (Qualifier)"@en, "complications (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-SDPG013V-D skos:prefLabel "psychology (Qualifier)"@en, "psychologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-W6SQV79N-S skos:prefLabel "classification (Qualifier)"@en, "classification (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-GXVR9QN8-P skos:prefLabel "drug therapy (Qualifier)"@en, "traitement médicamenteux (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-S0CS1X5R-5 skos:prefLabel "immunology (Qualifier)"@en, "immunologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-CB30NGKB-3 skos:prefLabel "economics (Qualifier)"@en, "économie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-CSKTXWF5-F skos:prefLabel "epidemiology (Qualifier)"@en, "épidémiologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-BT300B3G-Q skos:prefLabel "cerebrospinal fluid (Qualifier)"@en, "liquide cérébrospinal (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-JVKFK2NX-2 skos:prefLabel "nursing (Qualifier)"@en, "soins infirmiers (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-W4X1LN61-R skos:prefLabel "diet therapy (Qualifier)"@en, "diétothérapie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-RC3PND0F-S skos:prefLabel "ethnology (Qualifier)"@en, "ethnologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-XV06LPML-W skos:prefLabel "urine (Qualifier)"@en, "urine (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-NHL3D2X0-S skos:prefLabel "sang (Qualificatif)"@fr, "blood (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-SBNWSM1T-R skos:prefLabel "history (Qualifier)"@en, "histoire (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept .