@prefix mesh: . @prefix skos: . @prefix dc: . @prefix xsd: . @prefix rdfs: . @prefix owl: . mesh:D006946 skos:prefLabel "Hyperinsulinism"@sv, "Hyperinsulinism"@en, "hyperinsulinismi"@fi ; a , skos:Concept ; skos:narrower mesh:D044903 . mesh:D044903 skos:related mesh:D024661, mesh:D018528 ; skos:altLabel "Infancy Hyperinsulinemia Hypoglycemia"@en, "Neonatal Hyperinsulinism"@en, "Hyperinsulinism, Neonatal"@en, "Hyperinsulinisms, Neonatal"@en, "Persistent Hyperinsulinemic Hypoglycemia"@en, "Hypoglycemia, Persistent Hyperinsulinemic"@en, "Hypoglycemia, PHHI"@en, "Hyperinsulinemic Hypoglycemia, Persistent"@en, "Hypoglycemias, Persistent Hyperinsulinemic"@en, "Hyperinsulinisms, Familial"@en, "Persistent Hyperinsulinemia Hypoglycemia of Infancy"@en, "PHHI Hypoglycemias"@en, "Hyperinsulinism, Congenital"@en, "Familial Hyperinsulinisms"@en, "Hyperinsulinemic Hypoglycemias, Persistent"@en, "Hyperinsulinism, Familial"@en, "vastasyntyneen pitkittynyt hyperinsulinemiasta johtuva hypoglykemia"@fi, "Hypoglycemia, Hyperinsulinemic, of Infancy"@en, "PHHI Hypoglycemia"@en, "Infancy Hyperinsulinemia Hypoglycemias"@en, "Hypoglycemias, PHHI"@en, "Hyperinsulinemia Hypoglycemia of Infancy"@en, "PPHI-hypoglykemia"@fi, "Familial Hyperinsulinism"@en, "Persistent Hyperinsulinemic Hypoglycemias"@en, "Neonatal Hyperinsulinisms"@en ; skos:prefLabel "Medfödd hyperinsulinism"@sv, "Congenital Hyperinsulinism"@en, "kongenitaalinen hyperinsulinemia"@fi ; skos:scopeNote "A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8)."@en ; skos:exactMatch ; skos:broader mesh:D010182, mesh:D006946, mesh:D007232, mesh:D007003 ; skos:historyNote "2014(2004)"@en ; a skos:Concept, ; dc:created "2003-07-09"^^xsd:date ; skos:narrower mesh:D046768 ; skos:inScheme mesh: ; dc:modified "2022-04-11"^^xsd:date . mesh:D007232 skos:prefLabel "Sjukdomar hos nyfödda"@sv, "vastasyntyneen sairaudet"@fi, "Infant, Newborn, Diseases"@en ; a , skos:Concept ; skos:narrower mesh:D044903 . mesh:D010182 skos:prefLabel "Bukspottkörtelsjukdomar"@sv, "haiman sairaudet"@fi, "Pancreatic Diseases"@en ; a , skos:Concept ; skos:narrower mesh:D044903 . mesh:D046768 skos:prefLabel "Nesidioblastos"@sv, "nesidioblastoosi"@fi, "Nesidioblastosis"@en ; a , skos:Concept ; skos:broader mesh:D044903 . mesh: rdfs:label "Medical Subject Headings (MeSH)" ; a skos:ConceptScheme . mesh:D018528 skos:prefLabel "ABC-bärare"@sv, "ATP:tä sitovat kasettikuljettajat"@fi, "ATP-Binding Cassette Transporters"@en ; a , skos:Concept ; skos:related mesh:D044903 . rdfs:label "Ämne"@sv, "Aihe"@fi, "Topical Descriptor"@en ; a owl:Class . mesh:D024661 skos:prefLabel "IRK1-kanal"@sv, "sisäänpäin johtavat kaliumkanavat"@fi, "Potassium Channels, Inwardly Rectifying"@en ; a , skos:Concept ; skos:related mesh:D044903 . mesh:D007003 skos:prefLabel "Hypoglykemi"@sv, "Hypoglycemia"@en, "hypoglykemia"@fi ; a , skos:Concept ; skos:narrower mesh:D044903 .