Release 5

This page is part of the FHIR Specification (v5.0.0: R5 - STU). This is the current published version in it's permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R4 R3

Example MolecularSequence/example-TPMT-one (Turtle)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: Patient

Raw Turtle (+ also see Turtle/RDF Format Specification)

Example of a TPMT SNP data that support a haplotype observation

@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <https://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:MolecularSequence ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "example-TPMT-one"] ; # 
  fhir:text [
     fhir:status [ fhir:v "generated" ] ;
     fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"example-TPMT-one\"> </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 MolecularSequence &quot;example-TPMT-one&quot; </p></div><p><b>type</b>: dna</p><p><b>subject</b>: <a href=\"patient-example.html\">Patient/example</a> &quot;Peter CHALMERS&quot;</p><blockquote><p><b>relative</b></p><p><b>coordinateSystem</b>: 1-based character counting <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA30102-0)</span></p><h3>StartingSequences</h3><table class=\"grid\"><tr><td>-</td><td><b>Sequence[x]</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td><td><b>Strand</b></td></tr><tr><td>*</td><td>NT_007592.15 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (nuccore#NT_007592.15)</span></td><td>18130918</td><td>18143955</td><td>watson</td></tr></table><h3>Edits</h3><table class=\"grid\"><tr><td>-</td><td><b>Start</b></td><td><b>End</b></td><td><b>ReplacementSequence</b></td><td><b>ReplacedSequence</b></td></tr><tr><td>*</td><td>18139214</td><td>18139214</td><td>A</td><td>G</td></tr></table></blockquote></div>"
  ] ; # 
  fhir:type [ fhir:v "dna"] ; # 
  fhir:subject [
     fhir:reference [ fhir:v "Patient/example" ]
  ] ; # 
  fhir:relative ( [
     fhir:coordinateSystem [
       fhir:coding ( [
         a loinc:LA30102-0 ;
         fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "LA30102-0" ] ;
         fhir:display [ fhir:v "1-based character counting" ]
       ] )
     ] ;
     fhir:startingSequence [
       fhir:sequence [
         a fhir:CodeableConcept ;
         fhir:coding ( [
           fhir:system [ fhir:v "http://www.ncbi.nlm.nih.gov/nuccore"^^xsd:anyURI ] ;
           fhir:code [ fhir:v "NT_007592.15" ]
         ] )
       ] ;
       fhir:windowStart [ fhir:v "18130918"^^xsd:integer ] ;
       fhir:windowEnd [ fhir:v "18143955"^^xsd:integer ] ;
       fhir:strand [ fhir:v "watson" ]
     ] ;
     fhir:edit ( [
       fhir:start [ fhir:v "18139214"^^xsd:integer ] ;
       fhir:end [ fhir:v "18139214"^^xsd:integer ] ;
       fhir:replacementSequence [ fhir:v "A" ] ;
       fhir:replacedSequence [ fhir:v "G" ]
     ] )
  ] )] . # 

# -------------------------------------------------------------------------------------

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.