PROTECT-CHILD Pediatric Transplant Data Implementation Guide, published by Protect Child. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-eu/protect-child/ and changes regularly. See the Directory of published versions

• Narrative Content
• XML
• JSON
• TTL

: Example Epigenome Study - TTL Representation

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:Basic ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "epigenome-study-example-1"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "extensions" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Basic epigenome-study-example-1</b></p><a name=\"epigenome-study-example-1\"> </a><a name=\"hcepigenome-study-example-1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-epigenome-study.html\">Epigenome Study</a></p></div><p><b>Genomic test ID relationship</b>: <a href=\"Basic-genomic-test-example-1.html\">Basic Exome sequencing</a></p><p><b>Bisulfite reference kit</b>: EZ DNA Methylation-Gold Kit</p><p><b>Bisulfite date</b>: 2025-01-10</p><p><b>Age at DNA extraction</b>: 45</p><p><b>Array date</b>: 2025-01-12</p><p><b>SNP reader device</b>: iScan System</p><p><b>Sample type</b>: <span title=\"Codes:{https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/biosample-tissue-type blood}\">Blood</span></p><p><b>Pool ID</b>: POOL-01</p><p><b>Sample ID</b>: SAMPLE-123</p><p><b>Sentrix barcode array</b>: 203456789012</p><p><b>Sentrix position</b>: R01C01</p><p><b>Chip type</b>: Infinium MethylationEPIC BeadChip</p><p><b>Manifest number</b>: METH-EPIC-201</p><p><b>Scan date</b>: 2025-01-13</p><p><b>Raw data</b>: gs://bucket/methylation/ES0001/idat/</p><p><b>Target disease ID</b>: OMIM:123456</p><p><b>identifier</b>: <code>https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/epigenome-study-id</code>/ES0001</p><p><b>code</b>: <span title=\"Codes:{https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/epigenome-study-type array}\">Methylation array epigenome study</span></p></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:extension ( [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-genomic-test-ref"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-genomic-test-ref>     ] ;
fhir:value [
a fhir:Reference ;
fhir:l fhir:Basic/genomic-test-example-1 ;
fhir:reference [ fhir:v "Basic/genomic-test-example-1" ]     ]
  ] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-bisulfite-reference-kit"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-bisulfite-reference-kit>     ] ;
fhir:value [
a fhir:String ;
fhir:v "EZ DNA Methylation-Gold Kit"     ]
  ] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-bisulfite-date"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-bisulfite-date>     ] ;
fhir:value [
a fhir:Date ;
fhir:v "2025-01-10"^^xsd:date     ]
  ] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-age-at-dna-extraction"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-age-at-dna-extraction>     ] ;
fhir:value [
a fhir:Decimal ;
fhir:v "45"^^xsd:decimal     ]
  ] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-array-date"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-array-date>     ] ;
fhir:value [
a fhir:Date ;
fhir:v "2025-01-12"^^xsd:date     ]
  ] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-snp-reader-device"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-snp-reader-device>     ] ;
fhir:value [
a fhir:String ;
fhir:v "iScan System"     ]
  ] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-sample-type"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-sample-type>     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/biosample-tissue-type"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/biosample-tissue-type>         ] ;
fhir:code [ fhir:v "blood" ] ;
fhir:display [ fhir:v "Blood" ]       ] )     ]
  ] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-pool-id"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-pool-id>     ] ;
fhir:value [
a fhir:String ;
fhir:v "POOL-01"     ]
  ] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-sample-id"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-sample-id>     ] ;
fhir:value [
a fhir:String ;
fhir:v "SAMPLE-123"     ]
  ] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-sentrix-barcodearray"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-sentrix-barcodearray>     ] ;
fhir:value [
a fhir:String ;
fhir:v "203456789012"     ]
  ] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-sentrix-position"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-sentrix-position>     ] ;
fhir:value [
a fhir:String ;
fhir:v "R01C01"     ]
  ] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-chip-type"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-chip-type>     ] ;
fhir:value [
a fhir:String ;
fhir:v "Infinium MethylationEPIC BeadChip"     ]
  ] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-manifest-number"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-manifest-number>     ] ;
fhir:value [
a fhir:String ;
fhir:v "METH-EPIC-201"     ]
  ] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-scan-date"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-scan-date>     ] ;
fhir:value [
a fhir:Date ;
fhir:v "2025-01-13"^^xsd:date     ]
  ] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-raw-data"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-raw-data>     ] ;
fhir:value [
a fhir:String ;
fhir:v "gs://bucket/methylation/ES0001/idat/"     ]
  ] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-target-disease-id"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-target-disease-id>     ] ;
fhir:value [
a fhir:String ;
fhir:v "OMIM:123456"     ]
  ] ) ; # 
  fhir:identifier ( [
fhir:system [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/epigenome-study-id"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/epigenome-study-id>     ] ;
fhir:value [ fhir:v "ES0001" ]
  ] ) ; # 
  fhir:code [
    ( fhir:coding [
fhir:system [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/epigenome-study-type"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/epigenome-study-type>       ] ;
fhir:code [ fhir:v "array" ] ;
fhir:display [ fhir:v "Methylation array epigenome study" ]     ] )
  ] . #