@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 -------------------------------------------------------------------

<http://hl7.org/fhir/uv/genomics-reporting/Observation/obs1-interact-smn1-smn2> a fhir:Observation ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "obs1-interact-smn1-smn2"] ; # 
  fhir:meta [
     fhir:profile ( [
       fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"^^xsd:anyURI ;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>
     ] )
  ] ; # 
  fhir:text [
     fhir:status [ fhir:v "generated" ] ;
     fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation obs1-interact-smn1-smn2</b></p><a name=\"obs1-interact-smn1-smn2\"> </a><a name=\"hcobs1-interact-smn1-smn2\"> </a><a name=\"obs1-interact-smn1-smn2-en-US\"> </a><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://loinc.org 69548-6}\">Genetic variant assessment</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>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26418-6}\">PCR</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:11117}\">SMN1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://www.sequenceontology.org SO:0001019}\">copy_number_variation</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6683-2}\">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82155-3}\">Genomic structural variant copy number</span></p><p><b>value</b>: 0 1<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000005.10}\">NC_000005.10</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81302-2}\">Structural variant inner start and end</span></p><p><b>value</b>: 70924941-70966375</p></blockquote></div>"
  ] ; # 
  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 ( [
       a loinc:69548-6 ;
       fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
       fhir:code [ fhir:v "69548-6" ]
     ] )
  ] ; # 
  fhir:subject [
     fhir:display [ fhir:v "A Newborn" ]
  ] ; # 
  fhir:effective [ fhir:v "2019-04-01"^^xsd:date] ; # 
  fhir:performer ( [
     fhir:link <http://hl7.org/fhir/uv/genomics-reporting/Organization/ExampleOrg> ;
     fhir:reference [ fhir:v "Organization/ExampleOrg" ]
  ] ) ; # 
  fhir:value [
     a fhir:CodeableConcept ;
     fhir:coding ( [
       a loinc:LA9633-4 ;
       fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
       fhir:code [ fhir:v "LA9633-4" ] ;
       fhir:display [ fhir:v "Present" ]
     ] )
  ] ; # 
  fhir:method [
     fhir:coding ( [
       a loinc:LA26418-6 ;
       fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
       fhir:code [ fhir:v "LA26418-6" ] ;
       fhir:display [ fhir:v "PCR" ]
     ] )
  ] ; # 
  fhir:component ( [
     fhir:code [
       fhir:coding ( [
         a loinc:48018-6 ;
         fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "48018-6" ]
       ] )
     ] ;
     fhir:value [
       a fhir:CodeableConcept ;
       fhir:coding ( [
         fhir:system [ fhir:v "http://www.genenames.org"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "HGNC:11117" ] ;
         fhir:display [ fhir:v "SMN1" ]
       ] )
     ]
  ] [
     fhir:code [
       fhir:coding ( [
         a loinc:48019-4 ;
         fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "48019-4" ]
       ] )
     ] ;
     fhir:value [
       a fhir:CodeableConcept ;
       fhir:coding ( [
         fhir:system [ fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "SO:0001019" ] ;
         fhir:display [ fhir:v "copy_number_variation" ]
       ] )
     ]
  ] [
     fhir:code [
       fhir:coding ( [
         a loinc:48002-0 ;
         fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "48002-0" ]
       ] )
     ] ;
     fhir:value [
       a fhir:CodeableConcept ;
       fhir:coding ( [
         a loinc:LA6683-2 ;
         fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "LA6683-2" ] ;
         fhir:display [ fhir:v "Germline" ]
       ] )
     ]
  ] [
     fhir:code [
       fhir:coding ( [
         a loinc:82155-3 ;
         fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "82155-3" ]
       ] )
     ] ;
     fhir:value [
       a fhir:Quantity ;
       fhir:value [ fhir:v "0"^^xsd:decimal ] ;
       fhir:system [ fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ] ;
       fhir:code [ fhir:v "1" ]
     ]
  ] [
     fhir:code [
       fhir:coding ( [
         a loinc:48013-7 ;
         fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "48013-7" ]
       ] )
     ] ;
     fhir:value [
       a fhir:CodeableConcept ;
       fhir:coding ( [
         fhir:system [ fhir:v "http://www.ncbi.nlm.nih.gov/refseq"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "NC_000005.10" ]
       ] )
     ]
  ] [
     fhir:code [
       fhir:coding ( [
         a loinc:81302-2 ;
         fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "81302-2" ]
       ] )
     ] ;
     fhir:value [
       a fhir:Range ;
       fhir:low [
         fhir:value [ fhir:v "70924941"^^xsd:decimal ]
       ] ;
       fhir:high [
         fhir:value [ fhir:v "70966375"^^xsd:decimal ]
       ]
     ]
  ] ) . # 

<http://hl7.org/fhir/uv/genomics-reporting/Organization/ExampleOrg> a fhir:uv .

# -------------------------------------------------------------------------------------

