NCPI FHIR Implementation Guide
0.2.0 - ci-build

NCPI FHIR Implementation Guide - Local Development build (v0.2.0). See the Directory of published versions

: Baylor Hopkins Center for Mendelian Genomics (BH CMG) - 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:Observation;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "anvil-summary-phs000711"]; # 
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"anvil-summary-phs000711\"> </a></p><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\">Resource Observation &quot;anvil-summary-phs000711&quot; </p></div><p><b>status</b>: final</p><p><b>code</b>: Variable Summary <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-ncpi.html\">NCPI FHIR Codes</a>#Summary)</span></p><p><b>focus</b>: <a href=\"ResearchStudy-research-study-phs000711.html\">ResearchStudy/research-study-phs000711</a></p><blockquote><p><b>component</b></p><p><b>code</b>: Number of Samples <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-ncpi.html\">NCPI FHIR Codes</a>#SampleCount)</span></p><p><b>value</b>: 807</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Number of Participants <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-ncpi.html\">NCPI FHIR Codes</a>#Participant)</span></p><p><b>value</b>: 807</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Consent Codes <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> ([not stated]#ConsentCodes)</span></p><p><b>value</b>: HMB-IRB-NPU</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Terra Workspace Name <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> ([not stated]#TerraWorkspace)</span></p><p><b>value</b>: AnVIL_CMG_BaylorHopkins_HMB-NPU_WES</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Primary Disease <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> ([not stated]#PrimaryDisease)</span></p><p><b>value</b>: Mendelian</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Access Type <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> ([not stated]#AccessType)</span></p><p><b>value</b>: Controlled Access</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: StudyDesign <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> ([not stated]#StudyDesign)</span></p><p><b>value</b>: Mendelian</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DataType <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> ([not stated]#DataType)</span></p><p><b>value</b>: Exome</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Size on Disk <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> ([not stated]#StorageSize)</span></p><p><b>value</b>: 4.87 TR<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code TR = 'TR')</span></p></blockquote></div>"
  ]; # 
  fhir:Observation.status [ fhir:value "final"]; # 
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ncpi" ];
       fhir:Coding.code [ fhir:value "Summary" ];
       fhir:Coding.display [ fhir:value "Variable Summary" ]     ]
  ]; # 
  fhir:Observation.focus [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "ResearchStudy/research-study-phs000711" ]
  ]; # 
  fhir:Observation.component [
     fhir:index 0;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ncpi" ];
         fhir:Coding.code [ fhir:value "SampleCount" ];
         fhir:Coding.display [ fhir:value "Number of Samples" ]       ]     ];
     fhir:Observation.component.valueInteger [ fhir:value "807"^^xsd:integer ]
  ], [
     fhir:index 1;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ncpi" ];
         fhir:Coding.code [ fhir:value "Participant" ];
         fhir:Coding.display [ fhir:value "Number of Participants" ]       ]     ];
     fhir:Observation.component.valueInteger [ fhir:value "807"^^xsd:integer ]
  ], [
     fhir:index 2;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.code [ fhir:value "ConsentCodes" ];
         fhir:Coding.display [ fhir:value "Consent Codes" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "HMB-IRB-NPU" ]
  ], [
     fhir:index 3;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.code [ fhir:value "TerraWorkspace" ];
         fhir:Coding.display [ fhir:value "Terra Workspace Name" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "AnVIL_CMG_BaylorHopkins_HMB-NPU_WES" ]
  ], [
     fhir:index 4;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.code [ fhir:value "PrimaryDisease" ];
         fhir:Coding.display [ fhir:value "Primary Disease" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "Mendelian" ]
  ], [
     fhir:index 5;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.code [ fhir:value "AccessType" ];
         fhir:Coding.display [ fhir:value "Access Type" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "Controlled Access" ]
  ], [
     fhir:index 6;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.code [ fhir:value "StudyDesign" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "Mendelian" ]
  ], [
     fhir:index 7;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.code [ fhir:value "DataType" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "Exome" ]
  ], [
     fhir:index 8;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.code [ fhir:value "StorageSize" ];
         fhir:Coding.display [ fhir:value "Size on Disk" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "4.87"^^xsd:decimal ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "TR" ]     ]
  ]. # 

# - ontology header ------------------------------------------------------------

 a owl:Ontology;
  owl:imports fhir:fhir.ttl.