@prefix jvr: . @prefix skos: . @prefix mesh: . @prefix dc: . @prefix xsd: . @prefix owl: . jvr:-JKLPXF8F-V skos:prefLabel "Hyperglycinemia, Nonketotic"@en, "Hyperglycinémie non cétosique"@fr ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-P3QPZWKW-9 skos:prefLabel "Maladies démyélinisantes héréditaires du système nerveux central"@fr, "Hereditary Central Nervous System Demyelinating Diseases"@en ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . 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:-PJ9KTHCL-G skos:prefLabel "Metabolism, Inborn Errors"@en, "Erreurs innées du métabolisme"@fr ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-NZNP9637-N . jvr:-L6C0XPHT-4 skos:prefLabel "métabolisme (Qualificatif)"@fr, "metabolism (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-TX0XJB0X-K skos:prefLabel "Déficience intellectuelle"@fr, "Intellectual Disability"@en ; a mesh:Descriptor, skos:Concept ; skos:related jvr:-NZNP9637-N . 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:-HXQJM1F2-M skos:prefLabel "Menkes Kinky Hair Syndrome"@en, "Maladie de Menkès"@fr ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-TDWLN70S-V skos:prefLabel "Syndrome MELAS"@fr, "MELAS Syndrome"@en ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . 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:-PJB3RDHS-9 skos:prefLabel "Syndrome MERRF"@fr, "MERRF Syndrome"@en ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-BQ3W1P91-F skos:prefLabel "thérapie (Qualificatif)"@fr, "therapy (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-KRXG97RR-5 skos:prefLabel "diagnostic (Qualificatif)"@fr, "diagnosis (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-W31VDHCQ-3 skos:prefLabel "Hyperlysinemias"@en, "Hyperlysinémies"@fr ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-X5QJB04M-8 skos:prefLabel "Tyrosinémies"@fr, "Tyrosinemias"@en ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-J9Z93VFN-9 skos:prefLabel "enzymology (Qualifier)"@en, "enzymologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-V3KSTZBF-Q skos:prefLabel "Déficit en pyruvate carboxylase"@fr, "Pyruvate Carboxylase Deficiency Disease"@en ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-QSV8SCLW-L skos:prefLabel "Refsum Disease, Infantile"@en, "Maladie de Refsum infantile"@fr ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-T1QJHLQ4-J skos:prefLabel "microbiology (Qualifier)"@en, "microbiologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-FL5XWKZ7-D skos:prefLabel "Phenylketonurias"@en, "Phénylcétonuries"@fr ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-MHKLJX03-S skos:prefLabel "Refsum Disease"@en, "Maladie de Refsum"@fr ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-KFM33PF8-L skos:prefLabel "médecine vétérinaire (Qualificatif)"@fr, "veterinary (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-F5N903NW-F skos:prefLabel "Déficit en complexe pyruvate-déshydrogénase"@fr, "Pyruvate Dehydrogenase Complex Deficiency Disease"@en ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr: a skos:ConceptScheme . jvr:-HDMF005G-T skos:prefLabel "Encéphalopathies métaboliques"@fr, "Brain Diseases, Metabolic"@en ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-NZNP9637-N . 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:-SDPG013V-D skos:prefLabel "psychology (Qualifier)"@en, "psychologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-T6JZ48ZV-N skos:prefLabel "complications (Qualifier)"@en, "complications (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-P1X8SCQ6-K skos:prefLabel "virologie (Qualificatif)"@fr, "virology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-N78C0W1D-7 skos:prefLabel "Leigh Disease"@en, "Maladie de Leigh"@fr ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-W6SQV79N-S skos:prefLabel "classification (Qualifier)"@en, "classification (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-LN8836V9-Z skos:prefLabel "Maple Syrup Urine Disease"@en, "Leucinose"@fr ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . 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:-M2R2GN6Z-S skos:prefLabel "Syndrome de Lowe"@fr, "Oculocerebrorenal Syndrome"@en ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-H8RDGGBZ-4 skos:prefLabel "Homocystinurie"@fr, "Homocystinuria"@en ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-HM541ZMH-6 skos:prefLabel "Zellweger Syndrome"@en, "Syndrome de Zellweger"@fr ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-Q7279J6X-W skos:prefLabel "Angiopathie amyloïde cérébrale familiale"@fr, "Cerebral Amyloid Angiopathy, Familial"@en ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-BT300B3G-Q skos:prefLabel "cerebrospinal fluid (Qualifier)"@en, "liquide cérébrospinal (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-CSKTXWF5-F skos:prefLabel "epidemiology (Qualifier)"@en, "épidémiologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-W4B0MN0V-8 skos:prefLabel "Galactosemias"@en, "Galactosémies"@fr ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-GBBQM51W-N skos:prefLabel "Maladie de Hartnup"@fr, "Hartnup Disease"@en ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . 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:-SS1XPWM3-C skos:prefLabel "Déficit en mévalonate kinase"@fr, "Mevalonate Kinase Deficiency"@en ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-RC3PND0F-S skos:prefLabel "ethnology (Qualifier)"@en, "ethnologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-NRL7WKVS-9 skos:prefLabel "Lesch-Nyhan Syndrome"@en, "Syndrome de Lesch-Nyhan"@fr ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-XV06LPML-W skos:prefLabel "urine (Qualifier)"@en, "urine (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-DJ1MS0WT-2 skos:prefLabel "Hepatolenticular Degeneration"@en, "Dégénérescence hépatolenticulaire"@fr ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-NZNP9637-N skos:narrower jvr:-ZZCR4CSG-8, jvr:-HM541ZMH-6, jvr:-GBBQM51W-N, jvr:-P3QPZWKW-9, jvr:-DJ1MS0WT-2, jvr:-W31VDHCQ-3, jvr:-X5QJB04M-8, jvr:-SS1XPWM3-C, jvr:-FL5XWKZ7-D, jvr:-TDWLN70S-V, jvr:-JKLPXF8F-V, jvr:-H8RDGGBZ-4, jvr:-N78C0W1D-7, jvr:-PJB3RDHS-9, jvr:-QSV8SCLW-L, jvr:-F5N903NW-F, jvr:-H79L77V9-9, jvr:-Q7279J6X-W, jvr:-W4B0MN0V-8, jvr:-NRL7WKVS-9, jvr:-M2R2GN6Z-S, jvr:-LN8836V9-Z, jvr:-MHKLJX03-S, jvr:-HXQJM1F2-M, jvr:-V3KSTZBF-Q ; skos:broader jvr:-PJ9KTHCL-G, jvr:-HDMF005G-T ; skos:hiddenLabel "Brain Diseases, Metabolic, Inherited"@en, "Familial Metabolic Brain Diseases"@en, "Inherited Metabolic Brain Diseases"@en, "Encéphalopathies métaboliques familiales"@fr, "Metabolic Brain Diseases, Familial"@en, "Familial Metabolic Disorders, Brain"@en, "CNS Metabolic Disorders, Inborn"@en, "Central Nervous System Inborn Metabolic Diseases"@en, "Encéphalopathies métaboliques héréditaires"@fr, "Metabolic Diseases, Inborn, Central Nervous System"@en, "Maladies métaboliques congénitales du SNC"@fr, "Brain Diseases, Metabolic, Familial"@en, "Inherited Metabolic Disorders, Brain"@en, "Metabolic Disorders, Familial, Brain"@en, "Maladies métaboliques cérébrales héréditaires"@fr, "Central Nervous System Inborn Metabolic Disorders"@en, "Maladies métaboliques congénitales du système nerveux central"@fr, "Metabolic Brain Diseases, Inherited"@en, "Metabolic Disorders, CNS, Inborn"@en, "Metabolic Disorders, Brain, Inherited"@en ; mesh:allowableQualifier jvr:-Z9TSGBXH-4, jvr:-SBNWSM1T-R, jvr:-W6SQV79N-S, jvr:-DH7H9MJ2-N, jvr:-W4X1LN61-R, jvr:-WQ00QWRG-J, jvr:-W6T67RP3-2, jvr:-ZJBZVRWR-8, jvr:-T6JZ48ZV-N, jvr:-P1X8SCQ6-K, jvr:-WWJHCQRB-K, jvr:-S0CS1X5R-5, jvr:-XV06LPML-W, jvr:-L6C0XPHT-4, jvr:-BBD0S71C-R, jvr:-JVKFK2NX-2, jvr:-GXVR9QN8-P, jvr:-KRXG97RR-5, jvr:-T1QJHLQ4-J, jvr:-BQ3W1P91-F, jvr:-KFM33PF8-L, jvr:-SDPG013V-D, jvr:-RC3PND0F-S, jvr:-J9Z93VFN-9, jvr:-NHL3D2X0-S, jvr:-HPKB70N8-W, jvr:-B6C87218-T, jvr:-SDXQ5280-F, jvr:-CB30NGKB-3, jvr:-CSKTXWF5-F, jvr:-XVHTZRCG-7, jvr:-MDQBX560-1, jvr:-BT300B3G-Q, jvr:-VG20R78F-K ; skos:related jvr:-TX0XJB0X-K ; dc:created "1999-11-03"^^xsd:date ; skos:altLabel "Metabolic Diseases, Inborn, Brain"@en, "Inborn Errors of Metabolism, Brain"@en, "Metabolic Brain Syndrome, Inborn"@en, "Inborn Metabolic Brain Diseases"@en, "Inborn Metabolic Disorders, Brain"@en, "Inborn Metabolic Brain Disorders"@en, "Brain Syndrome, Metabolic, Inborn"@en, "Erreurs innées du métabolisme cérébral"@fr, "Encephalopathies, Metabolic, Inborn"@en, "Maladies métaboliques congénitales du cerveau"@fr, "Metabolic Brain Diseases, Inborn"@en ; skos:prefLabel "Brain Diseases, Metabolic, Inborn"@en, "Encéphalopathies métaboliques congénitales"@fr ; owl:sameAs ; dc:established "2000-01-01"^^xsd:date ; dc:modified "2011-07-05"^^xsd:date ; a skos:Concept, mesh:Descriptor ; skos:inScheme jvr: ; skos:definition "Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero."@en . jvr:-ZZCR4CSG-8 skos:prefLabel "Maladies neurologiques de surcharge lysosomiale"@fr, "Lysosomal Storage Diseases, Nervous System"@en ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-NHL3D2X0-S skos:prefLabel "sang (Qualificatif)"@fr, "blood (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-H79L77V9-9 skos:prefLabel "Anomalies congénitales du cycle de l'urée"@fr, "Urea Cycle Disorders, Inborn"@en ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N . jvr:-SBNWSM1T-R skos:prefLabel "history (Qualifier)"@en, "histoire (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept .