@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 .