Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: bundle-compound-heterozygote - TTL Representation

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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 rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

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

 a fhir:Bundle ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "bundle-compound-heterozygote"] ; # 
  fhir:type [ fhir:v "transaction"] ; # 
  fhir:entry ( [
fhir:fullUrl [ fhir:v "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d"^^xsd:anyURI ] ;
    ( fhir:resource <urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d> ) ;
fhir:request [
fhir:method [ fhir:v "POST" ] ;
fhir:url [ fhir:v "Observation"^^xsd:anyURI ]     ]
  ] [
fhir:fullUrl [ fhir:v "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e"^^xsd:anyURI ] ;
    ( fhir:resource <urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e> ) ;
fhir:request [
fhir:method [ fhir:v "POST" ] ;
fhir:url [ fhir:v "Observation"^^xsd:anyURI ]     ]
  ] [
fhir:fullUrl [ fhir:v "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a"^^xsd:anyURI ] ;
    ( fhir:resource <urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a> ) ;
fhir:request [
fhir:method [ fhir:v "POST" ] ;
fhir:url [ fhir:v "Observation"^^xsd:anyURI ]     ]
  ] [
fhir:fullUrl [ fhir:v "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab"^^xsd:anyURI ] ;
    ( fhir:resource <urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab> ) ;
fhir:request [
fhir:method [ fhir:v "POST" ] ;
fhir:url [ fhir:v "Organization"^^xsd:anyURI ]     ]
  ] [
fhir:fullUrl [ fhir:v "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac"^^xsd:anyURI ] ;
    ( fhir:resource <urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac> ) ;
fhir:request [
fhir:method [ fhir:v "POST" ] ;
fhir:url [ fhir:v "Patient"^^xsd:anyURI ]     ]
  ] ) . # 

<urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d> a fhir:Observation ;
  fhir:id [ fhir:v "Inline-Instance-for-compound-heterozygote-1"] ; # 
  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\"><a name=\"Observation_Inline-Instance-for-compound-heterozygote-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation Inline-Instance-for-compound-heterozygote-1</b></p><a name=\"Inline-Instance-for-compound-heterozygote-1\"> </a><a name=\"hcInline-Instance-for-compound-heterozygote-1\"> </a><a name=\"Inline-Instance-for-compound-heterozygote-1-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 href=\"Bundle-bundle-CYP2C19.html#urn-uuid-19ac0aeb-6bd4-4e92-a891-d44a807bfeac\">Bundle: type = transaction</a></p><p><b>effective</b>: 2019-03-05</p><p><b>issued</b>: 2019-03-05 16:04:44+0000</p><p><b>performer</b>: <a href=\"Bundle-bundle-CYP2C19.html#urn-uuid-19ac0aeb-6bd4-4e92-a891-d44a807bfeab\">Bundle: type = transaction</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_022787.3:c.769G&gt;A}\">NM_022787.3:c.769G&gt;A</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6706-1}\">Heterozygous</span></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:display [ fhir:v "Genetic variant assessment" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac" ]
  ] ; # 
  fhir:effective [ fhir:v "2019-03-05"^^xsd:date] ; # 
  fhir:issued [ fhir:v "2019-03-05T16:04:44+00:00"^^xsd:dateTime] ; # 
  fhir:performer ( [
fhir:reference [ fhir:v "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab" ]
  ] ) ; # 
  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:component ( [
fhir:code [
      ( fhir:coding [
a loinc:48004-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48004-6" ] ;
fhir:display [ fhir:v "DNA change (c.HGVS)" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "NM_022787.3:c.769G>A" ] ;
fhir:display [ fhir:v "NM_022787.3:c.769G>A" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:53034-5 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "53034-5" ] ;
fhir:display [ fhir:v "Allelic state" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA6706-1 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6706-1" ] ;
fhir:display [ fhir:v "Heterozygous" ]       ] )     ]
  ] ) . # 

<urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e> a fhir:Observation ;
  fhir:id [ fhir:v "Inline-Instance-for-compound-heterozygote-2"] ; # 
  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\"><a name=\"Observation_Inline-Instance-for-compound-heterozygote-2\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation Inline-Instance-for-compound-heterozygote-2</b></p><a name=\"Inline-Instance-for-compound-heterozygote-2\"> </a><a name=\"hcInline-Instance-for-compound-heterozygote-2\"> </a><a name=\"Inline-Instance-for-compound-heterozygote-2-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 href=\"Bundle-bundle-CYP2C19.html#urn-uuid-19ac0aeb-6bd4-4e92-a891-d44a807bfeac\">Bundle: type = transaction</a></p><p><b>effective</b>: 2019-03-05</p><p><b>issued</b>: 2019-03-05 16:04:44+0000</p><p><b>performer</b>: <a href=\"Bundle-bundle-CYP2C19.html#urn-uuid-19ac0aeb-6bd4-4e92-a891-d44a807bfeab\">Bundle: type = transaction</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_022787.3:c.53A&gt;G}\">NM_022787.3:c.53A&gt;G</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6706-1}\">Heterozygous</span></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:display [ fhir:v "Genetic variant assessment" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac" ]
  ] ; # 
  fhir:effective [ fhir:v "2019-03-05"^^xsd:date] ; # 
  fhir:issued [ fhir:v "2019-03-05T16:04:44+00:00"^^xsd:dateTime] ; # 
  fhir:performer ( [
fhir:reference [ fhir:v "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab" ]
  ] ) ; # 
  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:component ( [
fhir:code [
      ( fhir:coding [
a loinc:48004-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48004-6" ] ;
fhir:display [ fhir:v "DNA change (c.HGVS)" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "NM_022787.3:c.53A>G" ] ;
fhir:display [ fhir:v "NM_022787.3:c.53A>G" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:53034-5 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "53034-5" ] ;
fhir:display [ fhir:v "Allelic state" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA6706-1 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6706-1" ] ;
fhir:display [ fhir:v "Heterozygous" ]       ] )     ]
  ] ) . # 

<urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a> a fhir:Observation ;
  fhir:id [ fhir:v "Inline-Instance-for-compound-heterozygote-3"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_Inline-Instance-for-compound-heterozygote-3\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation Inline-Instance-for-compound-heterozygote-3</b></p><a name=\"Inline-Instance-for-compound-heterozygote-3\"> </a><a name=\"hcInline-Instance-for-compound-heterozygote-3\"> </a><a name=\"Inline-Instance-for-compound-heterozygote-3-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 84413-4}\">Genotype display name</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-CYP2C19.html#urn-uuid-19ac0aeb-6bd4-4e92-a891-d44a807bfeac\">Bundle: type = transaction</a></p><p><b>effective</b>: 2019-03-05</p><p><b>issued</b>: 2019-03-05 16:04:44+0000</p><p><b>performer</b>: <a href=\"Bundle-bundle-CYP2C19.html#urn-uuid-19ac0aeb-6bd4-4e92-a891-d44a807bfeab\">Bundle: type = transaction</a></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/clinvar RCV000664188.1}\">NM_022787.3(NMNAT1):c.[53A&gt;G];[769G&gt;A] AND Cone-rod dystrophy</span></p><p><b>hasMember</b>: </p><ul><li><a href=\"Bundle-bundle-complexVariant-nonHGVS.html#urn-uuid-16fdd5fc-e665-48af-99e4-48d603f3e12e\">NM_022787.3:c.53A&gt;G</a></li><li><a href=\"Bundle-bundle-complexVariant-nonHGVS.html#urn-uuid-16fdd5fc-e665-48af-99e4-48d603f3e12d\">NM_022787.3:c.769G&gt;A</a></li></ul></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:84413-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "84413-4" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac" ]
  ] ; # 
  fhir:effective [ fhir:v "2019-03-05"^^xsd:date] ; # 
  fhir:issued [ fhir:v "2019-03-05T16:04:44+00:00"^^xsd:dateTime] ; # 
  fhir:performer ( [
fhir:reference [ fhir:v "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab" ]
  ] ) ; # 
  fhir:value [
a fhir:CodeableConcept ;
    ( fhir:coding [
fhir:system [ fhir:v "http://www.ncbi.nlm.nih.gov/clinvar"^^xsd:anyURI ] ;
fhir:code [ fhir:v "RCV000664188.1" ] ;
fhir:display [ fhir:v "NM_022787.3(NMNAT1):c.[53A>G];[769G>A] AND Cone-rod dystrophy" ]     ] )
  ] ; # 
  fhir:hasMember ( [
fhir:reference [ fhir:v "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e" ] ;
fhir:display [ fhir:v "NM_022787.3:c.53A>G" ]
  ] [
fhir:reference [ fhir:v "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d" ] ;
fhir:display [ fhir:v "NM_022787.3:c.769G>A" ]
  ] ) . # 

<urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab> a fhir:Organization ;
  fhir:id [ fhir:v "performingLab"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Organization_performingLab\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Organization performingLab</b></p><a name=\"performingLab\"> </a><a name=\"hcperformingLab\"> </a><a name=\"performingLab-en-US\"> </a><p><b>name</b>: aTypingLab Inc</p><p><b>alias</b>: aTL</p><p><b>telecom</b>: ph: 1-800-555-1234(Work)</p><p><b>address</b>: 123 Main St, Sometown, ND 99999(work)</p></div>"
  ] ; # 
  fhir:name [ fhir:v "aTypingLab Inc"] ; # 
  fhir:alias ( [ fhir:v "aTL"] ) ; # 
  fhir:telecom ( [
fhir:system [ fhir:v "phone" ] ;
fhir:value [ fhir:v "1-800-555-1234" ] ;
fhir:use [ fhir:v "work" ] ;
fhir:rank [ fhir:v "1"^^xsd:positiveInteger ]
  ] ) ; # 
  fhir:address ( [
fhir:use [ fhir:v "work" ] ;
fhir:type [ fhir:v "both" ] ;
fhir:text [ fhir:v "123 Main St, Sometown, ND 99999" ] ;
    ( fhir:line [ fhir:v "123 Main St" ] ) ;
fhir:city [ fhir:v "Sometown" ] ;
fhir:state [ fhir:v "ND" ] ;
fhir:postalCode [ fhir:v "99999" ] ;
fhir:country [ fhir:v "USA" ]
  ] ) . # 

<urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac> a fhir:Patient ;
  fhir:id [ fhir:v "patient"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Patient_patient\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Patient patient</b></p><a name=\"patient\"> </a><a name=\"hcpatient\"> </a><a name=\"patient-en-US\"> </a><p style=\"border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;\">John Storm(official) Male, DoB: 1986-12-31</p><hr/></div>"
  ] ; # 
  fhir:name ( [
fhir:use [ fhir:v "official" ] ;
fhir:text [ fhir:v "John Storm" ] ;
fhir:family [ fhir:v "Storm" ] ;
    ( fhir:given [ fhir:v "John" ] )
  ] [
fhir:use [ fhir:v "nickname" ] ;
fhir:text [ fhir:v "Johnny Storm" ] ;
fhir:family [ fhir:v "Storm" ] ;
    ( fhir:given [ fhir:v "Johnny" ] )
  ] [
fhir:use [ fhir:v "nickname" ] ;
fhir:text [ fhir:v "The Human Torch" ]
  ] ) ; # 
  fhir:gender [ fhir:v "male"] ; # 
  fhir:birthDate [ fhir:v "1986-12-31"^^xsd:date] . #