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

Example MolecularSequence/molecularsequence-focus-example (Turtle)

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

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

Example of focus (the mother was sequenced) versus subject (a child is the patient of record)

@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 "molecularsequence-focus-example"] ; # 
  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=\"molecularsequence-focus-example\"> </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;molecularsequence-focus-example&quot; </p></div><p><b>type</b>: dna</p><p><b>subject</b>: <a href=\"broken-link.html\">Patient/infant</a></p><p><b>focus</b>: <a href=\"patient-example-infant-mom.html\">Patient/infant-mom</a> &quot;Leia SOLO&quot;</p><blockquote><p><b>relative</b></p><p><b>coordinateSystem</b>: 0-based interval counting <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA30100-4)</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></tr><tr><td>*</td><td>NC_000007.14 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (#NC_000007.14)</span></td><td>87627610</td><td>87627635</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>87627621</td><td>87642522</td><td>T</td><td>A</td></tr></table></blockquote></div>"
  ] ; # 
  fhir:type [ fhir:v "dna"] ; # 
  fhir:subject [
     fhir:reference [ fhir:v "Patient/infant" ]
  ] ; # 
  fhir:focus ( [
     fhir:reference [ fhir:v "Patient/infant-mom" ]
  ] ) ; # 
  fhir:relative ( [
     fhir:coordinateSystem [
       fhir:coding ( [
         a loinc:LA30100-4 ;
         fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "LA30100-4" ] ;
         fhir:display [ fhir:v "0-based interval 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 "NC_000007.14" ]
         ] ) ;
         fhir:text [ fhir:v "NC_000007.14" ]
       ] ;
       fhir:windowStart [ fhir:v "87627610"^^xsd:integer ] ;
       fhir:windowEnd [ fhir:v "87627635"^^xsd:integer ]
     ] ;
     fhir:edit ( [
       fhir:start [ fhir:v "87627621"^^xsd:integer ] ;
       fhir:end [ fhir:v "87642522"^^xsd:integer ] ;
       fhir:replacementSequence [ fhir:v "T" ] ;
       fhir:replacedSequence [ fhir:v "A" ]
     ] )
  ] )] . # 

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


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.