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

• Narrative Content
• XML
• JSON
• TTL

: diagnostic-implication-1 - TTL Representation

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <http://loinc.org/rdf#> .
@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 "diagnostic-implication-1"]; # 
  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=\"diagnostic-implication-1\"> </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;diagnostic-implication-1&quot; </p></div><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.0.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span></p><p><b>code</b>: Diagnostic Implication <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-tbd-codes.html\">ToBeDeterminedCodes ('TbdCodes')</a>#diagnostic-implication)</span></p><p><b>derivedFrom</b>: <a href=\"Observation-variant-example-1.html\">Observation/variant-example-1</a></p><blockquote><p><b>component</b></p><p><b>code</b>: mode-of-inheritance <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-tbd-codes.html\">ToBeDeterminedCodes ('TbdCodes')</a>#mode-of-inheritance)</span></p><p><b>value</b>: Autosomal recessive inheritance <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (condition-inheritance-vs#HP:0000007)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genetic variation clinical significance [Imp] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#53037-8)</span></p><p><b>value</b>: Unknown Significance <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA6682-4)</span></p></blockquote></div>"
  ]; # 
  fhir:Observation.status [ fhir:value "final"]; # 
  fhir:Observation.category [
     fhir:index 0;
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ];
       fhir:Coding.code [ fhir:value "laboratory" ]     ]
  ]; # 
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes" ];
       fhir:Coding.code [ fhir:value "diagnostic-implication" ];
       fhir:Coding.display [ fhir:value "Diagnostic Implication" ]     ]
  ]; # 
  fhir:Observation.derivedFrom [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "Observation/variant-example-1" ]
  ]; # 
  fhir:Observation.component [
     fhir:index 0;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes" ];
         fhir:Coding.code [ fhir:value "mode-of-inheritance" ];
         fhir:Coding.display [ fhir:value "mode-of-inheritance" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://fhir.ncpi-project-forge.io/ValueSet/condition-inheritance-vs" ];
         fhir:Coding.code [ fhir:value "HP:0000007" ];
         fhir:Coding.display [ fhir:value "Autosomal recessive inheritance" ]       ]     ]
  ], [
     fhir:index 1;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:53037-8;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "53037-8" ];
         fhir:Coding.display [ fhir:value "Genetic variation clinical significance [Imp]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA6682-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA6682-4" ];
         fhir:Coding.display [ fhir:value "Unknown Significance" ]       ]     ]
  ]. # 

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

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