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-ballot 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

: pop-allele-freq - TTL Representation

Page standards status: Informative

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <https://loinc.org/rdf/> .
@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:Observation ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "pop-allele-freq"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-annotation"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-annotation>     ] )
  ] ; # 
  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: Observation pop-allele-freq</b></p><a name=\"pop-allele-freq\"> </a><a name=\"hcpop-allele-freq\"> </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-genomic-annotation.html\">Genomic Annotation</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 genomic-annotation}\">Genomic Annotation</span></p><p><b>subject</b>: <a href=\"Patient-HG00403.html\">Alanine B. Everyone  Unknown, DoB: 1951-01-20 ( Medical Record Number: m234 (use: usual, ))</a></p><p><b>effective</b>: 2023-06-01</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>derivedFrom</b>: <a href=\"Observation-variant-with-molec-consequences.html\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>KnowledgebaseAncestryGroup</b>: <span title=\"Codes:\">south asian</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 92821-8}\">Allelic frequency in Population</span></p><p><b>value</b>: 0.01</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs knowledge-base}\">Knowledge Base</span></p><p><b>value</b>: <span title=\"Codes:\">gnomAD v3.1.2 Exomes</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs annotation-pipeline}\">Annotation Pipeline</span></p><p><b>value</b>: <span title=\"Codes:\">Oakvar v2.34</span></p></blockquote></div>"^^rdf:XMLLiteral
  ] ; # 
  fhir:status [ fhir:v "final"] ; # 
  fhir:category ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ] ;
fhir:code [ fhir:v "laboratory" ]     ] )
  ] [
    ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ] ;
fhir:code [ fhir:v "GE" ]     ] )
  ] ) ; # 
  fhir:code [
    ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ] ;
fhir:code [ fhir:v "genomic-annotation" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "Patient/HG00403" ]
  ] ; # 
  fhir:effective [
a fhir:dateTime ;
fhir:v "2023-06-01"^^xsd:date
  ] ; # 
  fhir:performer ( [
fhir:reference [ fhir:v "Organization/ExampleLab" ]
  ] ) ; # 
  fhir:derivedFrom ( [
fhir:reference [ fhir:v "Observation/variant-with-molec-consequences" ]
  ] ) ; # 
  fhir:component ( [
    ( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group"^^xsd:anyURI ] ;
fhir:value [
a fhir:CodeableConcept ;
fhir:text [ fhir:v "south asian" ]       ]     ] ) ;
fhir:code [
      ( fhir:coding [
a loinc:92821-8 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "92821-8" ] ;
fhir:display [ fhir:v "Allelic frequency in Population" ]       ] )     ] ;
fhir:value [
a fhir:Quantity ;
fhir:value [ fhir:v 0.01 ]     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ] ;
fhir:code [ fhir:v "knowledge-base" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
fhir:text [ fhir:v "gnomAD v3.1.2 Exomes" ]     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ] ;
fhir:code [ fhir:v "annotation-pipeline" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
fhir:text [ fhir:v "Oakvar v2.34" ]     ]
  ] ) . #