@prefix jvr: . @prefix skos: . @prefix mesh: . @prefix owl: . @prefix dc: . @prefix xsd: . jvr:-RC3PND0F-S skos:prefLabel "ethnology (Qualifier)"@en, "ethnologie (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:-VG20R78F-K skos:prefLabel "embryologie (Qualificatif)"@fr, "embryology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-ZJBZVRWR-8 skos:prefLabel "parasitologie (Qualificatif)"@fr, "parasitology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-L6C0XPHT-4 skos:prefLabel "métabolisme (Qualificatif)"@fr, "metabolism (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-KFM33PF8-L skos:prefLabel "médecine vétérinaire (Qualificatif)"@fr, "veterinary (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-GXVR9QN8-P skos:prefLabel "drug therapy (Qualifier)"@en, "traitement médicamenteux (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-MDQBX560-1 skos:prefLabel "radiotherapy (Qualifier)"@en, "radiothérapie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-XV06LPML-W skos:prefLabel "urine (Qualifier)"@en, "urine (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-CSKTXWF5-F skos:prefLabel "epidemiology (Qualifier)"@en, "épidémiologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-SDPG013V-D skos:prefLabel "psychology (Qualifier)"@en, "psychologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-NQXGRGX7-T skos:prefLabel "Argininosuccinate Synthase"@en, "Argininosuccinate synthase"@fr ; a mesh:Descriptor, skos:Concept ; skos:related jvr:-N94FJG70-H . jvr:-KRXG97RR-5 skos:prefLabel "diagnostic (Qualificatif)"@fr, "diagnosis (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-WWJHCQRB-K skos:prefLabel "surgery (Qualifier)"@en, "chirurgie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-Z9TSGBXH-4 skos:prefLabel "génétique (Qualificatif)"@fr, "genetics (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-DH7H9MJ2-N skos:prefLabel "anatomopathologie (Qualificatif)"@fr, "pathology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-T6JZ48ZV-N skos:prefLabel "complications (Qualifier)"@en, "complications (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:-HPKB70N8-W skos:prefLabel "rehabilitation (Qualifier)"@en, "rééducation et réadaptation (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:-WQ00QWRG-J skos:prefLabel "physiopathologie (Qualificatif)"@fr, "physiopathology (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:-S0CS1X5R-5 skos:prefLabel "immunology (Qualifier)"@en, "immunologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-N94FJG70-H skos:altLabel "Déficit en argininosuccinate synthase"@fr, "Argininosuccinate Synthase Deficiency Disease"@en, "Argininosuccinic Acid Synthetase Deficiency"@en, "Argininosuccinic Acid Synthetase Deficiency Disease"@en, "Citrullinuria"@en, "Argininosuccinic Acid Synthase Deficiency Disease"@en, "Deficiency Disease, Argininosuccinate Synthase"@en, "Deficiency Disease, Argininosuccinic Acid Synthase"@en, "ASS Deficiency"@en, "Argininosuccinate Synthetase Deficiency"@en, "Déficit en argininosuccinate synthétase"@fr ; skos:hiddenLabel "Citrullinémie néonatale"@fr, "Citrullinemia, Neonatal"@en, "Citrullinemia 1"@en, "Déficit partiel en argininosuccinate synthase"@fr, "Déficit partiel en argininosuccinate synthétase"@fr, "Citrullinemia Type 1"@en, "Citrullinemia, Classic"@en, "Déficit enzymatique complet en argininosuccinate synthase"@fr, "Déficit complet en argininosuccinate synthétase"@fr, "Citrullinemia, Type I"@en, "Déficit enzymatique complet en argininosuccinate synthétase"@fr, "Complete Argininosuccinic Acid Synthetase Deficiency Disease"@en, "Déficit enzymatique partiel en argininosuccinate synthétase"@fr, "Citrullinemia, Classical"@en, "Deficiency, Argininosuccinic Acid Synthetase, Complete"@en, "Argininosuccinic Acid Synthetase Deficiency, Complete"@en, "Argininosuccinic Acid Synthetase Deficiency Disease, Partial"@en, "Partial Argininosuccinic Acid Synthetase Deficiency Disease"@en, "Deficiency, Argininosuccinic Acid Synthetase, Partial"@en, "Citrullinemia, Late-Onset"@en ; mesh:allowableQualifier jvr:-B6C87218-T, jvr:-L6C0XPHT-4, jvr:-HPKB70N8-W, jvr:-P1X8SCQ6-K, jvr:-BT300B3G-Q, jvr:-T1QJHLQ4-J, jvr:-SDXQ5280-F, jvr:-XV06LPML-W, jvr:-GXVR9QN8-P, jvr:-J9Z93VFN-9, jvr:-XVHTZRCG-7, jvr:-T6JZ48ZV-N, jvr:-BBD0S71C-R, jvr:-WWJHCQRB-K, jvr:-DH7H9MJ2-N, jvr:-Z9TSGBXH-4, jvr:-RC3PND0F-S, jvr:-W6T67RP3-2, jvr:-SBNWSM1T-R, jvr:-CSKTXWF5-F, jvr:-W4X1LN61-R, jvr:-MDQBX560-1, jvr:-ZJBZVRWR-8, jvr:-KFM33PF8-L, jvr:-BQ3W1P91-F, jvr:-W6SQV79N-S, jvr:-NHL3D2X0-S, jvr:-JVKFK2NX-2, jvr:-CB30NGKB-3, jvr:-S0CS1X5R-5, jvr:-WQ00QWRG-J, jvr:-SDPG013V-D, jvr:-KRXG97RR-5, jvr:-VG20R78F-K ; a mesh:Descriptor, skos:Concept ; owl:sameAs ; dc:created "1999-11-03"^^xsd:date ; skos:prefLabel "Citrullinémie"@fr, "Citrullinemia"@en ; skos:broader jvr:-H79L77V9-9 ; dc:established "2000-01-01"^^xsd:date ; dc:modified "2020-05-27"^^xsd:date ; skos:definition "A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)"@en ; skos:inScheme jvr: ; skos:related jvr:-NQXGRGX7-T . jvr:-BQ3W1P91-F skos:prefLabel "thérapie (Qualificatif)"@fr, "therapy (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-SDXQ5280-F skos:prefLabel "mortality (Qualifier)"@en, "mortalité (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-W6SQV79N-S skos:prefLabel "classification (Qualifier)"@en, "classification (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-CB30NGKB-3 skos:prefLabel "economics (Qualifier)"@en, "économie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-XVHTZRCG-7 skos:prefLabel "étiologie (Qualificatif)"@fr, "etiology (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:narrower jvr:-N94FJG70-H . jvr: a skos:ConceptScheme . jvr:-SBNWSM1T-R skos:prefLabel "history (Qualifier)"@en, "histoire (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-T1QJHLQ4-J skos:prefLabel "microbiology (Qualifier)"@en, "microbiologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-BBD0S71C-R skos:prefLabel "induit chimiquement (Qualificatif)"@fr, "chemically induced (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-NHL3D2X0-S skos:prefLabel "sang (Qualificatif)"@fr, "blood (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-J9Z93VFN-9 skos:prefLabel "enzymology (Qualifier)"@en, "enzymologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-P1X8SCQ6-K skos:prefLabel "virologie (Qualificatif)"@fr, "virology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-JVKFK2NX-2 skos:prefLabel "nursing (Qualifier)"@en, "soins infirmiers (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept .