{ "@context": { "dc": "http://purl.org/dc/elements/1.1/", "dcterms": "http://purl.org/dc/terms/", "iso-thes": "http://purl.org/iso25964/skos-thes#", "nsogi": "http://prefix.cc/nsogi", "rdf": "http://www.w3.org/1999/02/22-rdf-syntax-ns#", "rdfs": "http://www.w3.org/2000/01/rdf-schema#", "skos": "http://www.w3.org/2004/02/skos/core#", "skosxl": "http://www.w3.org/2008/05/skos-xl#", "xsd": "http://www.w3.org/2001/XMLSchema#" }, "@id": "http://purl.org/bncf/tid/44459", "@type": "skos:Concept", "skos:prefLabel": { "@language": "it","@value": "Malattie di Niemann-Pick"}, "dc:date": "2011-06-29", "skos:inScheme": [ { "@id": "http://purl.org/bncf/tid/Thes"}, { "@id": "http://purl.org/bncf/tid/ThesCF8" } ], "skos:broader": { "@id": "http://purl.org/bncf/tid/818" }, "skos:altLabel": ["Deficit di sfingomielinasi", "Epatosplenomegalia lipoido-cellulare", "Fosfatidolipoidosi", "Istiocitosi lipoidea", "Istiocitosi lipoidea essenziale", "Istiocitosi lipoidocellulare essenziale", "Lipidosi da sfingomielina", "Lipidosi sfingomielinica", "Lipoidosi fosfatidica", "Malattia di Niemann", "Morbo di Niemann-Pick", "Sfingolipidosi", "Sfingomielinosi", "Sfingomielinosi di Niemann-Pick", "Sfingomielinosi reticoloistiocitaria", "Splenoepatomegalia lipoidocellulare", "Splenomegalia di Niemann", "Splenomegalia fosfatidica"], "skosxl:altLabel": [ {"@id": "http://purl.org/bncf/tid/44468"}, {"@id": "http://purl.org/bncf/tid/44460"}, {"@id": "http://purl.org/bncf/tid/44462"}, {"@id": "http://purl.org/bncf/tid/71808"}, {"@id": "http://purl.org/bncf/tid/44464"}, {"@id": "http://purl.org/bncf/tid/71809"}, {"@id": "http://purl.org/bncf/tid/44469"}, {"@id": "http://purl.org/bncf/tid/44466"}, {"@id": "http://purl.org/bncf/tid/71810"}, {"@id": "http://purl.org/bncf/tid/44465"}, {"@id": "http://purl.org/bncf/tid/44467"}, {"@id": "http://purl.org/bncf/tid/44470"}, {"@id": "http://purl.org/bncf/tid/44463"}, {"@id": "http://purl.org/bncf/tid/71806"}, {"@id": "http://purl.org/bncf/tid/71811"}, {"@id": "http://purl.org/bncf/tid/71813"}, {"@id": "http://purl.org/bncf/tid/71812"}, {"@id": "http://purl.org/bncf/tid/44461"} ], "skos:related": [ { "@id": "http://purl.org/bncf/tid/5047" }, { "@id": "http://purl.org/bncf/tid/11688" }, { "@id": "http://purl.org/bncf/tid/26106" }], "skos:closeMatch": [ {"@id": "http://id.loc.gov/authorities/sh2006001837"} ], "skos:definition": "Gruppo di disordini ereditari (A-D) legati a geni autosomici recessivi, caratterizzati da accumulo di sfingomieline nel sistema reticolo-endoteliale (MB)", "skos:editorialNote": "BNI 2006-2023; Ascone-Lauricella; Benigno-Li Voti; DizMM; DME (voce: Niemann-Pick, malattia di); Dorland; MB" }