NCPI FHIR Implementation Guide v2
0.1.0 - ci-build

NCPI FHIR Implementation Guide v2 - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: Example file based on CBTN - TTL Representation

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

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

 a fhir:DocumentReference ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "GF-6BAD9S7D"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/ncpi-file"^^xsd:anyURI ;
fhir:link <https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/ncpi-file>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "extensions" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: DocumentReference GF-6BAD9S7D</b></p><a name=\"GF-6BAD9S7D\"> </a><a name=\"hcGF-6BAD9S7D\"> </a><a name=\"GF-6BAD9S7D-en-US\"> </a><p><b>Version of the contents of the file</b>: V1</p><p><b>The file format used</b>: <span title=\"Codes:{http://edamontology.org format_3016}\">VCF</span></p><p><b>The size of the file, e.g., in bytes.</b>: 1044770380 bytes</p><blockquote><p><b>Provides a list of hashes for confirming file transfers</b></p><ul><li>https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/hash-value: 8f107912d862cf91fbfb77bf9c1bab36-4</li><li>https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/hash-type: etag</li></ul></blockquote><p><b>identifier</b>: GF-6BAD9S7D</p><p><b>status</b>: Current</p><p><b>type</b>: <span title=\"Codes:{http://edamontology.org operation_3227}\">Variant calling</span></p><p><b>subject</b>: <a href=\"Patient-PT-006SP660.html\">Anonymous Patient (no stated gender), DoB Unknown ( https://cbtn.org/#C21156)</a></p><p><b>description</b>: Annotated Variant Call</p><blockquote><p><b>content</b></p><p><b>If present, only those under the specific Access Policy can access the file in this location.</b>: <a href=\"Consent-kf-gru-dac-consent.html\">Consent: extension = Use of the data is limited only by the terms of the model Data Use Certification.,https://redcap.chop.edu/surveys/?s=A7M873HMN8,Controlled; status = draft; scope = Research; category = Research Information Access; policyRule = Common Rule Informed Consent</a></p><h3>Attachments</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Url</b></td></tr><tr><td style=\"display: none\">*</td><td>s3://kf-strides-study-us-east-1-prd-sd-54g4wg4r/harmonized-data/family-variants/155bb529-2e7b-474f-ba24-cd0656d5f3d0.CGP.filtered.deNovo.vep.vcf.gz</td></tr></table></blockquote></div>"
  ] ; # 
  fhir:extension ( [
fhir:url [ fhir:v "https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/content-version"^^xsd:anyURI ] ;
fhir:value [ fhir:v "V1" ]
  ] [
fhir:url [ fhir:v "https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/file-format"^^xsd:anyURI ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://edamontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "format_3016" ] ;
fhir:display [ fhir:v "VCF" ]       ] )     ]
  ] [
fhir:url [ fhir:v "https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/file-size"^^xsd:anyURI ] ;
fhir:value [
a fhir:Quantity ;
fhir:value [ fhir:v "1044770380"^^xsd:decimal ] ;
fhir:unit [ fhir:v "bytes" ]     ]
  ] [
    ( fhir:extension [
fhir:url [ fhir:v "https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/hash-value"^^xsd:anyURI ] ;
fhir:value [ fhir:v "8f107912d862cf91fbfb77bf9c1bab36-4" ]     ] [
fhir:url [ fhir:v "https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/hash-type"^^xsd:anyURI ] ;
fhir:value [ fhir:v "etag" ]     ] ) ;
fhir:url [ fhir:v "https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/hash-extension"^^xsd:anyURI ]
  ] ) ; # 
  fhir:identifier ( [
fhir:value [ fhir:v "GF-6BAD9S7D" ]
  ] ) ; # 
  fhir:status [ fhir:v "current"] ; # 
  fhir:type [
    ( fhir:coding [
fhir:system [ fhir:v "http://edamontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "operation_3227" ] ;
fhir:display [ fhir:v "Variant calling" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "Patient/PT-006SP660" ]
  ] ; # 
  fhir:description [ fhir:v "Annotated Variant Call"] ; # 
  fhir:content ( [
    ( fhir:extension [
fhir:url [ fhir:v "https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/location-access"^^xsd:anyURI ] ;
fhir:value [
a fhir:Reference ;
fhir:reference [ fhir:v "Consent/kf-gru-dac-consent" ]       ]     ] ) ;
fhir:attachment [
fhir:url [ fhir:v "s3://kf-strides-study-us-east-1-prd-sd-54g4wg4r/harmonized-data/family-variants/155bb529-2e7b-474f-ba24-cd0656d5f3d0.CGP.filtered.deNovo.vep.vcf.gz"^^xsd:anyURI ]     ]
  ] ) . #