bundle-oncology-diagnostic - TTL Representation - Genomics Reporting Implementation Guide v3.0.0

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 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
: bundle-oncology-diagnostic - TTL Representation

Raw ttl | Download
@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-oncology-diagnostic"] ; # 
  fhir:type [ fhir:v "transaction"] ; # 
  fhir:entry ( [
fhir:fullUrl [ fhir:v "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d"^^xsd:anyURI ] ;
    ( fhir:resource <urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d> ) ;
fhir:request [
fhir:method [ fhir:v "POST" ] ;
fhir:url [ fhir:v "Patient"^^xsd:anyURI ]     ]
  ] [
fhir:fullUrl [ fhir:v "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef"^^xsd:anyURI ] ;
    ( fhir:resource <urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef> ) ;
fhir:request [
fhir:method [ fhir:v "POST" ] ;
fhir:url [ fhir:v "Practitioner"^^xsd:anyURI ]     ]
  ] [
fhir:fullUrl [ fhir:v "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d"^^xsd:anyURI ] ;
    ( fhir:resource <urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d> ) ;
fhir:request [
fhir:method [ fhir:v "POST" ] ;
fhir:url [ fhir:v "Specimen"^^xsd:anyURI ]     ]
  ] [
fhir:fullUrl [ fhir:v "urn:uuid:40e85eda-4d31-4bd2-a5a0-c39d63f9824f"^^xsd:anyURI ] ;
    ( fhir:resource <urn:uuid:40e85eda-4d31-4bd2-a5a0-c39d63f9824f> ) ;
fhir:request [
fhir:method [ fhir:v "POST" ] ;
fhir:url [ fhir:v "Observation"^^xsd:anyURI ]     ]
  ] [
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:1bf9642d-fd1c-4819-8c5d-44fae4bad524"^^xsd:anyURI ] ;
    ( fhir:resource <urn:uuid:1bf9642d-fd1c-4819-8c5d-44fae4bad524> ) ;
fhir:request [
fhir:method [ fhir:v "POST" ] ;
fhir:url [ fhir:v "Observation"^^xsd:anyURI ]     ]
  ] [
fhir:fullUrl [ fhir:v "urn:uuid:ad7a499b-a43b-4cc8-bf46-cac62d9ecae5"^^xsd:anyURI ] ;
    ( fhir:resource <urn:uuid:ad7a499b-a43b-4cc8-bf46-cac62d9ecae5> ) ;
fhir:request [
fhir:method [ fhir:v "POST" ] ;
fhir:url [ fhir:v "DiagnosticReport"^^xsd:anyURI ]     ]
  ] ) . # 

<urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d> a fhir:Patient ;
  fhir:id [ fhir:v "Inline-Instance-for-oncology-diagnostic-1"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Patient_Inline-Instance-for-oncology-diagnostic-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Patient Inline-Instance-for-oncology-diagnostic-1</b></p><a name=\"Inline-Instance-for-oncology-diagnostic-1\"> </a><a name=\"hcInline-Instance-for-oncology-diagnostic-1\"> </a><a name=\"Inline-Instance-for-oncology-diagnostic-1-en-US\"> </a><p style=\"border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;\">Carrot John Mr  Male, DoB: 1962-12-31 ( 1007)</p><hr/><table class=\"grid\"><tr><td style=\"background-color: #f3f5da\" title=\"Patient Links\">Links:</td><td colspan=\"3\"><ul><li>General Practitioner: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">Bundle: type = transaction</a></li></ul></td></tr></table></div>"
  ] ; # 
  fhir:identifier ( [
fhir:value [ fhir:v "1007" ]
  ] ) ; # 
  fhir:name ( [
    ( fhir:given [ fhir:v "Carrot" ] [ fhir:v "John" ] [ fhir:v "Mr" ] )
  ] ) ; # 
  fhir:gender [ fhir:v "male"] ; # 
  fhir:birthDate [ fhir:v "1962-12-31"^^xsd:date] ; # 
  fhir:generalPractitioner ( [
fhir:reference [ fhir:v "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ]
  ] ) . # 

<urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef> a fhir:Practitioner ;
  fhir:id [ fhir:v "Inline-Instance-for-oncology-diagnostic-2"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Practitioner_Inline-Instance-for-oncology-diagnostic-2\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Practitioner Inline-Instance-for-oncology-diagnostic-2</b></p><a name=\"Inline-Instance-for-oncology-diagnostic-2\"> </a><a name=\"hcInline-Instance-for-oncology-diagnostic-2\"> </a><a name=\"Inline-Instance-for-oncology-diagnostic-2-en-US\"> </a><p><b>identifier</b>: 4654765876</p><p><b>name</b>: Akerman Philip Prof </p><p><b>address</b>: Castro Valley CA </p></div>"
  ] ; # 
  fhir:identifier ( [
fhir:value [ fhir:v "4654765876" ]
  ] ) ; # 
  fhir:name ( [
    ( fhir:given [ fhir:v "Akerman" ] [ fhir:v "Philip" ] [ fhir:v "Prof" ] )
  ] ) ; # 
  fhir:address ( [
fhir:city [ fhir:v "Castro Valley" ] ;
fhir:state [ fhir:v "CA" ]
  ] ) . # 

<urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d> a fhir:Specimen ;
  fhir:id [ fhir:v "Inline-Instance-for-oncology-diagnostic-3"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Specimen_Inline-Instance-for-oncology-diagnostic-3\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Specimen Inline-Instance-for-oncology-diagnostic-3</b></p><a name=\"Inline-Instance-for-oncology-diagnostic-3\"> </a><a name=\"hcInline-Instance-for-oncology-diagnostic-3\"> </a><a name=\"Inline-Instance-for-oncology-diagnostic-3-en-US\"> </a><p><b>identifier</b>: 076e1948-2217-11e9-94d8-12e241dc1f66</p><p><b>status</b>: Available</p><p><b>subject</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-d0b4affa-91d6-46d1-af01-b30d9f16ef6d\">Bundle: type = transaction</a></p><h3>Collections</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Collector</b></td></tr><tr><td style=\"display: none\">*</td><td><a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">Bundle: type = transaction</a></td></tr></table></div>"
  ] ; # 
  fhir:identifier ( [
fhir:value [ fhir:v "076e1948-2217-11e9-94d8-12e241dc1f66" ]
  ] ) ; # 
  fhir:status [ fhir:v "available"] ; # 
  fhir:subject [
fhir:reference [ fhir:v "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ]
  ] ; # 
  fhir:collection [
fhir:collector [
fhir:reference [ fhir:v "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ]     ]
  ] . # 

<urn:uuid:40e85eda-4d31-4bd2-a5a0-c39d63f9824f> a fhir:Observation ;
  fhir:id [ fhir:v "Inline-Instance-for-oncology-diagnostic-4"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-biomarker"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-biomarker>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_Inline-Instance-for-oncology-diagnostic-4\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation Inline-Instance-for-oncology-diagnostic-4</b></p><a name=\"Inline-Instance-for-oncology-diagnostic-4\"> </a><a name=\"hcInline-Instance-for-oncology-diagnostic-4\"> </a><a name=\"Inline-Instance-for-oncology-diagnostic-4-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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs biomarker-category}\">A characterization of a given biomarker observation.</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 94076-7}\">Mutations/Megabase [# Ratio] in Tumor</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-d0b4affa-91d6-46d1-af01-b30d9f16ef6d\">Bundle: type = transaction</a></p><p><b>effective</b>: 2019-03-05</p><p><b>performer</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">Bundle: type = transaction</a></p><p><b>value</b>: 25 Mutations/Megabase<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code1/1000000 = '1/1000000')</span></p><p><b>specimen</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a5d6a6a9-4859-480e-85b2-56974fef3b9d\">Bundle: type = transaction</a></p><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs biomarker-category}\">A characterization of a given biomarker observation.</span></td><td><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/molecular-biomarker-ontology-cs molgen}\">molecular sequence adjacent category</span></td></tr></table></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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ] ;
fhir:code [ fhir:v "biomarker-category" ]     ] )
  ] [
    ( 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:94076-7 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "94076-7" ] ;
fhir:display [ fhir:v "Mutations/Megabase [# Ratio] in Tumor" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ]
  ] ; # 
  fhir:effective [ fhir:v "2019-03-05"^^xsd:date] ; # 
  fhir:performer ( [
fhir:reference [ fhir:v "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ]
  ] ) ; # 
  fhir:value [
a fhir:Quantity ;
fhir:value [ fhir:v "25"^^xsd:decimal ] ;
fhir:unit [ fhir:v "Mutations/Megabase" ] ;
fhir:system [ fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "1/1000000" ]
  ] ; # 
  fhir:specimen [
fhir:reference [ fhir:v "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d" ]
  ] ; # 
  fhir:component ( [
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 "biomarker-category" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/molecular-biomarker-ontology-cs"^^xsd:anyURI ] ;
fhir:code [ fhir:v "molgen" ] ;
fhir:display [ fhir:v "molecular sequence adjacent category" ]       ] )     ]
  ] ) . # 

<urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d> a fhir:Observation ;
  fhir:id [ fhir:v "Inline-Instance-for-oncology-diagnostic-5"] ; # 
  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-oncology-diagnostic-5\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation Inline-Instance-for-oncology-diagnostic-5</b></p><a name=\"Inline-Instance-for-oncology-diagnostic-5\"> </a><a name=\"hcInline-Instance-for-oncology-diagnostic-5\"> </a><a name=\"Inline-Instance-for-oncology-diagnostic-5-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-oncology-diagnostic.html#urn-uuid-d0b4affa-91d6-46d1-af01-b30d9f16ef6d\">Bundle: type = transaction</a></p><p><b>effective</b>: 2019-03-05</p><p><b>performer</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">Bundle: type = transaction</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 LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a5d6a6a9-4859-480e-85b2-56974fef3b9d\">Bundle: type = transaction</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA14029-5}\">GRCh37</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81290-9}\">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NC_000007.13:g.140453136A&gt;T}\">NC_000007.13:g.140453136A&gt;T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81252-9}\">Discrete genetic variant</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/clinvar 13961}\">Clinvar ID 13961</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NP_004324.2:p.Val600Glu}\">NP_004324.2:p.Val600Glu</span></p></blockquote><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:1097}\">BRAF</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:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ]
  ] ; # 
  fhir:effective [ fhir:v "2019-03-05"^^xsd:date] ; # 
  fhir:performer ( [
fhir:reference [ fhir:v "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ]
  ] ) ; # 
  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:LA26398-0 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA26398-0" ] ;
fhir:display [ fhir:v "Sequencing" ]     ] )
  ] ; # 
  fhir:specimen [
fhir:reference [ fhir:v "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d" ]
  ] ; # 
  fhir:component ( [
fhir:code [
      ( fhir:coding [
a loinc:62374-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "62374-4" ] ;
fhir:display [ fhir:v "Human reference sequence assembly version" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA14029-5 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA14029-5" ] ;
fhir:display [ fhir:v "GRCh37" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:81290-9 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "81290-9" ] ;
fhir:display [ fhir:v "Genomic DNA change (gHGVS)" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "NC_000007.13:g.140453136A>T" ] ;
fhir:display [ fhir:v "NC_000007.13:g.140453136A>T" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:81252-9 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "81252-9" ] ;
fhir:display [ fhir:v "Discrete genetic variant" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://www.ncbi.nlm.nih.gov/clinvar"^^xsd:anyURI ] ;
fhir:code [ fhir:v "13961" ] ;
fhir:display [ fhir:v "Clinvar ID 13961" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48005-3 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48005-3" ] ;
fhir:display [ fhir:v "Amino acid change (pHGVS)" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "NP_004324.2:p.Val600Glu" ] ;
fhir:display [ fhir:v "NP_004324.2:p.Val600Glu" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48018-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48018-6" ] ;
fhir:display [ fhir:v "Gene studied ID" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://www.genenames.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HGNC:1097" ] ;
fhir:display [ fhir:v "BRAF" ]       ] )     ]
  ] ) . # 

<urn:uuid:1bf9642d-fd1c-4819-8c5d-44fae4bad524> a fhir:Observation ;
  fhir:id [ fhir:v "Inline-Instance-for-oncology-diagnostic-6"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "extensions" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_Inline-Instance-for-oncology-diagnostic-6\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation Inline-Instance-for-oncology-diagnostic-6</b></p><a name=\"Inline-Instance-for-oncology-diagnostic-6\"> </a><a name=\"hcInline-Instance-for-oncology-diagnostic-6\"> </a><a name=\"Inline-Instance-for-oncology-diagnostic-6-en-US\"> </a><p><b>Related artifact</b>: No display for RelatedArtifact  (type: justification; display: https://pmkb.weill.cornell.edu/therapies/103)</p><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 diagnostic-implication}\">Diagnostic Implication</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-d0b4affa-91d6-46d1-af01-b30d9f16ef6d\">Bundle: type = transaction</a></p><p><b>effective</b>: 2019-03-05</p><p><b>performer</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">Bundle: type = transaction</a></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26811-2}\">Computational analysis</span></p><p><b>specimen</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a5d6a6a9-4859-480e-85b2-56974fef3b9d\">Bundle: type = transaction</a></p><p><b>derivedFrom</b>: <a href=\"Bundle-bundle-complexVariant-nonHGVS.html#urn-uuid-16fdd5fc-e665-48af-99e4-48d603f3e12d\">Bundle: type = transaction</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6668-3}\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 93044-6}\">Level of Evidence</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA30200-2}\">Very strong evidence pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:\">melanoma</span></p></blockquote></div>"
  ] ; # 
  fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact"^^xsd:anyURI ] ;
fhir:value [
a fhir:RelatedArtifact ;
fhir:type [ fhir:v "justification" ] ;
fhir:display [ fhir:v "https://pmkb.weill.cornell.edu/therapies/103" ]     ]
  ] ) ; # 
  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 "diagnostic-implication" ] ;
fhir:display [ fhir:v "Diagnostic Implication" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ]
  ] ; # 
  fhir:effective [ fhir:v "2019-03-05"^^xsd:date] ; # 
  fhir:performer ( [
fhir:reference [ fhir:v "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ]
  ] ) ; # 
  fhir:method [
    ( fhir:coding [
a loinc:LA26811-2 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA26811-2" ] ;
fhir:display [ fhir:v "Computational analysis" ]     ] )
  ] ; # 
  fhir:specimen [
fhir:reference [ fhir:v "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d" ]
  ] ; # 
  fhir:derivedFrom ( [
fhir:reference [ fhir:v "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d" ]
  ] ) ; # 
  fhir:component ( [
fhir:code [
      ( fhir:coding [
a loinc:53037-8 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "53037-8" ] ;
fhir:display [ fhir:v "Genetic variation clinical significance [Imp]" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA6668-3 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6668-3" ] ;
fhir:display [ fhir:v "Pathogenic" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:93044-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "93044-6" ] ;
fhir:display [ fhir:v "Level of Evidence" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA30200-2 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA30200-2" ] ;
fhir:display [ fhir:v "Very strong evidence pathogenic" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:81259-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "81259-4" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
fhir:text [ fhir:v "melanoma" ]     ]
  ] ) . # 

<urn:uuid:ad7a499b-a43b-4cc8-bf46-cac62d9ecae5> a fhir:DiagnosticReport ;
  fhir:id [ fhir:v "Inline-Instance-for-oncology-diagnostic-7"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"DiagnosticReport_Inline-Instance-for-oncology-diagnostic-7\"> </a><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport Inline-Instance-for-oncology-diagnostic-7</b></p><a name=\"Inline-Instance-for-oncology-diagnostic-7\"> </a><a name=\"hcInline-Instance-for-oncology-diagnostic-7\"> </a><a name=\"Inline-Instance-for-oncology-diagnostic-7-en-US\"> </a><h2><span title=\"Codes:{http://loinc.org 51969-4}\">Genetic analysis report</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td>Not done yet</td></tr><tr><td>When For</td><td>2019-03-05</td></tr><tr><td>Performer</td><td> <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">Bundle: type = transaction</a></td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td></tr><tr><td/><td/></tr><tr><td/><td/></tr></table></div>"
  ] ; # 
  fhir:status [ fhir:v "final"] ; # 
  fhir:category ( [
    ( 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:51969-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "51969-4" ]     ] ) ;
fhir:text [ fhir:v "Genetic analysis report" ]
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ]
  ] ; # 
  fhir:effective [ fhir:v "2019-03-05"^^xsd:date] ; # 
  fhir:performer ( [
fhir:reference [ fhir:v "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ]
  ] ) ; # 
  fhir:specimen ( [
fhir:reference [ fhir:v "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d" ]
  ] ) ; # 
  fhir:result ( [
fhir:reference [ fhir:v "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d" ] ;
fhir:display [ fhir:v "BRAF V600E mutation observed" ]
  ] [
fhir:reference [ fhir:v "urn:uuid:1bf9642d-fd1c-4819-8c5d-44fae4bad524" ] ;
fhir:display [ fhir:v "melanoma implicated" ]
  ] ) . #