Genomics Reporting Implementation Guide
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Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

: diagnosticImplication-interact-smn1-smn2 - TTL Representation

Page standards status: Informative

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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 sct: <http://snomed.info/id/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

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

<http://hl7.org/fhir/Observation/diagnosticImplication-interact-smn1-smn2> a fhir:Observation ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "diagnosticImplication-interact-smn1-smn2"] ;
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" ;
       fhir:index 0 ;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication>
     ]
  ] ;
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ] ;
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation diagnosticImplication-interact-smn1-smn2</b></p><a name=\"diagnosticImplication-interact-smn1-smn2\"> </a><a name=\"hcdiagnosticImplication-interact-smn1-smn2\"> </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-diagnostic-implication.html\">Diagnostic Implication</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></p><p><b>subject</b>: A Newborn</p><p><b>effective</b>: 2019-04-01</p><p><b>performer</b>: <a href=\"Organization-ExampleOrg.html\">Organization some lab</a></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26811-2}\">Computational analysis</span></p><p><b>derivedFrom</b>: <a href=\"Observation-obs1-interact-smn1-smn2.html\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6668-3}\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 93044-6}\">Level of Evidence</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA30200-2}\">Very strong evidence pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 5262007}\">Spinal muscular atrophy (SMA)</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:index 1 ;
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ;
       fhir:Coding.code [ fhir:value "GE" ]
     ]
  ] ;
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ;
       fhir:Coding.code [ fhir:value "diagnostic-implication" ] ;
       fhir:Coding.display [ fhir:value "Diagnostic Implication" ]
     ]
  ] ;
  fhir:Observation.subject [
     fhir:Reference.display [ fhir:value "A Newborn" ]
  ] ;
  fhir:Observation.effectiveDateTime [ fhir:value "2019-04-01"^^xsd:date] ;
  fhir:Observation.performer [
     fhir:index 0 ;
     fhir:link <http://hl7.org/fhir/Organization/ExampleOrg> ;
     fhir:Reference.reference [ fhir:value "Organization/ExampleOrg" ]
  ] ;
  fhir:Observation.method [
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       a loinc:LA26811-2 ;
       fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
       fhir:Coding.code [ fhir:value "LA26811-2" ] ;
       fhir:Coding.display [ fhir:value "Computational analysis" ]
     ]
  ] ;
  fhir:Observation.derivedFrom [
     fhir:index 0 ;
     fhir:link <http://hl7.org/fhir/Observation/obs1-interact-smn1-smn2> ;
     fhir:Reference.reference [ fhir:value "Observation/obs1-interact-smn1-smn2" ]
  ] ;
  fhir:Observation.component [
     fhir:index 0 ;
     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:LA6668-3 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "LA6668-3" ] ;
         fhir:Coding.display [ fhir:value "Pathogenic" ]
       ]
     ]
  ], [
     fhir:index 1 ;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:93044-6 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "93044-6" ] ;
         fhir:Coding.display [ fhir:value "Level of Evidence" ]
       ]
     ] ;
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:LA30200-2 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "LA30200-2" ] ;
         fhir:Coding.display [ fhir:value "Very strong evidence pathogenic" ]
       ]
     ]
  ], [
     fhir:index 2 ;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:81259-4 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "81259-4" ]
       ]
     ] ;
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a sct:5262007 ;
         fhir:Coding.system [ fhir:value "http://snomed.info/sct" ] ;
         fhir:Coding.code [ fhir:value "5262007" ] ;
         fhir:Coding.display [ fhir:value "Spinal muscular atrophy (disorder)" ]
       ] ;
       fhir:CodeableConcept.text [ fhir:value "Spinal muscular atrophy (SMA)" ]
     ]
  ] .

<http://hl7.org/fhir/Organization/ExampleOrg> a fhir:Organization .

<http://hl7.org/fhir/Observation/obs1-interact-smn1-smn2> a fhir:Observation .

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

<http://hl7.org/fhir/Observation/diagnosticImplication-interact-smn1-smn2.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/Observation/diagnosticImplication-interact-smn1-smn2.ttl> .