@prefix dcterms: .
@prefix dcat: .
@prefix foaf: .
@prefix xsd: .
@prefix ldp: .
a dcterms:RightsStatement;
"Restricted" .
a ;
"Prof. Luregn Schlapbach";
"luregn.schlapbach@kispi.uzh.ch" .
a dcat:Resource,
dcat:Dataset;
"MOMIC RDF Dataset (Phase 3)";
dcterms:title "MOMIC RDF Dataset (Phase 3)";
dcat:version "1.0";
"2026-03-03T17:16:04.03902264Z"^^xsd:dateTime;
"2026-03-03T17:16:07.460950481Z"^^xsd:dateTime;
dcterms:license ;
dcterms:description "Phase 3: Development of a multi-omics workflow to discover rare diseases in children with extreme phenotypes. This study is a national multi-center prospective cohort study of n=140 patients aged from birth up to 20 years with extreme phenotypes admitted or referred to Swiss Children's Hospitals. We will obtain written consent and assent (if applicable) for all subjects taking part. We will collect blood samples from patients at presentation, alongside with routine clinical tests, and a skin biopsy. We will perform a buccal swab to patient's parents and siblings";
dcterms:conformsTo , ;
dcterms:language ;
;
dcterms:identifier "http://fdp.dcc.sib.swiss/dataset/d4ad525a-8fb0-5d01-87db-4495e3e5adfb";
dcterms:accessRights ;
dcterms:publisher [ a foaf:Agent;
foaf:name "Swiss Personalized Health Network (SPHN)"
];
dcterms:isPartOf ;
dcterms:source ,
"Hospital";
dcat:contactPoint ;
dcat:keyword "SwissPedHealth-MOMIC-2025.1-Phase-3-Clinical-data", "SwissPedHealth-MOMIC-2025.1-Phase-3-Hospital-A",
"SwissPedHealth-MOMIC-2025.1-Phase-3-Prospective-cohort", "SwissPedHealth-MOMIC-2025.1-dataset-01";
foaf:page ;
[ a foaf:Organization;
"Centre hospitalier universitaire vaudois";
dcterms:identifier ;
foaf:homepage
], [ a foaf:Organization;
"Universitats-Kinderspital beider Basel";
dcterms:identifier ;
foaf:homepage
], [ a foaf:Organization;
"Inselspital - Universitatsspital Bern";
dcterms:identifier ;
foaf:homepage
], [ a foaf:Organization;
"Hopitaux universitaires de Geneve";
dcterms:identifier ;
foaf:homepage
], [ a foaf:Organization;
"Universitats-Kinderspital Zurich";
dcterms:identifier ;
foaf:homepage
];
"Access to MOMIC phase 3 specific data is regulated through its corresponding DPCA.";
,
;
dcterms:issued "2026-02-24T14:27:40"^^xsd:dateTime;
dcterms:modified "2026-02-24T14:27:40"^^xsd:dateTime;
dcterms:temporal [ a dcterms:PeriodOfTime;
dcat:endDate "2025-09-01"^^xsd:date;
dcat:startDate "2022-07-01"^^xsd:date
];
dcat:theme , ,
, ,
;
"0 - 20 years";
"Age > 20 years",
"Documented refusal of MOMIC informed consent", "Insufficient quality of language communication or cognitive capacity to understand study procedures and to give consent";
"Age < 20 years",
"All pediatric divisions", "In- and outpatients", "Male and female", "Patients attended in pediatric hospitals",
"acceped and signed MOMIC informed consent";
dcat:distribution ;
"prospective, patient informed consent";
"Clinical Routine", "Phenotypic";
"Research project involving human subjects, prospective, observational study (Phase 3)";
" (recruitment in progress)";
,
, ;
"Phase 3 RDF Dataset";
,
, ,
, ;
20;
0 .
a ;
dcterms:identifier "http://fdp.dcc.sib.swiss/dataset/d4ad525a-8fb0-5d01-87db-4495e3e5adfb" .
"Personalized Medicine" .
"SPH RDF Schema 2024.1" .
"Research Laboratory" .
"Clinical Data" .
"Phenotypic abnormality" .
"Omics" .
"HRA - Human Research Act" .
"HRO - Human Research Ordinance" .
"FADP - Federal Act on Data Protection" .
"electronic health data from EHRs" .
"healthcare-related administrative data, including on dispensations, reimbursement claims and reimbursements" .
"data on factors impacting on health, including socioeconomic, environmental and behavioural determinants of health" .
"human genetic, epigenomic and genomic data" .
"other human molecular data such as proteomic, transcriptomic, metabolomic, lipidomic and other omic data" .
"SwissPedHealth MOMIC Phase 3 Clinical Data (2025.1)" .
;
.
;
.
a ldp:DirectContainer;
dcterms:title "Distributions";
ldp:membershipResource ;
ldp:hasMemberRelation dcat:distribution;
ldp:contains .
"Dataset Profile" .