Genomics Reporting Implementation Guide
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Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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

: FindSubjectMolecConseqOutput - TTL Representation

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <http://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/Parameters/FindSubjectMolecConseqOutput> a fhir:Parameters ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "FindSubjectMolecConseqOutput"] ;
  fhir:Parameters.parameter [
     fhir:index 0 ;
     fhir:Parameters.parameter.name [ fhir:value "consequence" ] ;
     fhir:Parameters.parameter.resource [
       a fhir:Observation ;
       fhir:Resource.id [ fhir:value "MC1" ] ;
       fhir:Resource.meta [
         fhir:Meta.profile [
           fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence" ;
           fhir:index 0 ;
           fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence>
         ]
       ] ;
       fhir:DomainResource.text [
         fhir:Narrative.status [ fhir:value "generated" ] ;
         fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">NM_001395525.1:c.-281+2T&gt;C - intronic_variant:loss_of_function_variant</div>"
       ] ;
       fhir:Observation.status [ fhir:value "final" ] ;
       fhir:Observation.category [
         fhir:index 0 ;
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ] ;
           fhir:Coding.code [ fhir:value "laboratory" ]
         ]
       ], [
         fhir:index 1 ;
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ;
           fhir:Coding.code [ fhir:value "GE" ]
         ]
       ] ;
       fhir:Observation.code [
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ;
           fhir:Coding.code [ fhir:value "molecular-consequence" ]
         ]
       ] ;
       fhir:Observation.subject [
         fhir:link <http://hl7.org/fhir/Patient/HG00403> ;
         fhir:Reference.reference [ fhir:value "Patient/HG00403" ]
       ] ;
       fhir:Observation.effectiveDateTime [ fhir:value "2023-04-01"^^xsd:date ] ;
       fhir:Observation.performer [
         fhir:index 0 ;
         fhir:link <http://hl7.org/fhir/Organization/ExampleOrg> ;
         fhir:Reference.reference [ fhir:value "Organization/ExampleOrg" ]
       ] ;
       fhir:Observation.interpretation [
         fhir:index 0 ;
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction" ] ;
           fhir:Coding.code [ fhir:value "HIGH" ] ;
           fhir:Coding.display [ fhir:value "High" ]
         ]
       ] ;
       fhir:Observation.derivedFrom [
         fhir:index 0 ;
         fhir:link <http://hl7.org/fhir/Observation/variantExampleMC> ;
         fhir:Reference.reference [ fhir:value "Observation/variantExampleMC" ]
       ] ;
       fhir:Observation.component [
         fhir:index 0 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:51958-7 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "51958-7" ] ;
             fhir:Coding.display [ fhir:value "Transcript reference sequence [ID]" ]
           ]
         ] ;
         fhir:Observation.component.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ] ;
             fhir:Coding.code [ fhir:value "NM_001395525.1" ] ;
             fhir:Coding.display [ fhir:value "NM_001395525.1" ]
           ]
         ]
       ], [
         fhir:index 1 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ;
             fhir:Coding.code [ fhir:value "feature-consequence" ]
           ]
         ] ;
         fhir:Observation.component.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ] ;
             fhir:Coding.code [ fhir:value "SO:0001575" ] ;
             fhir:Coding.display [ fhir:value "splice_donor_variant" ]
           ], [
             fhir:index 1 ;
             fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ] ;
             fhir:Coding.code [ fhir:value "SO:0001627" ] ;
             fhir:Coding.display [ fhir:value "intron_variant" ]
           ]
         ]
       ], [
         fhir:index 2 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ;
             fhir:Coding.code [ fhir:value "functional-effect" ]
           ]
         ] ;
         fhir:Observation.component.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ] ;
             fhir:Coding.code [ fhir:value "SO_0002054" ] ;
             fhir:Coding.display [ fhir:value "loss_of_function_variant" ]
           ]
         ]
       ]
     ]
  ], [
     fhir:index 1 ;
     fhir:Parameters.parameter.name [ fhir:value "consequence" ] ;
     fhir:Parameters.parameter.resource [
       a fhir:Observation ;
       fhir:Resource.id [ fhir:value "MC2" ] ;
       fhir:Resource.meta [
         fhir:Meta.profile [
           fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence" ;
           fhir:index 0 ;
           fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence>
         ]
       ] ;
       fhir:DomainResource.text [
         fhir:Narrative.status [ fhir:value "generated" ] ;
         fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">NM_001366781.1:c.90T&gt;C - synonymous_variant</div>"
       ] ;
       fhir:Observation.status [ fhir:value "final" ] ;
       fhir:Observation.category [
         fhir:index 0 ;
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ] ;
           fhir:Coding.code [ fhir:value "laboratory" ]
         ]
       ], [
         fhir:index 1 ;
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ;
           fhir:Coding.code [ fhir:value "GE" ]
         ]
       ] ;
       fhir:Observation.code [
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ;
           fhir:Coding.code [ fhir:value "molecular-consequence" ]
         ]
       ] ;
       fhir:Observation.subject [
         fhir:link <http://hl7.org/fhir/Patient/HG00403> ;
         fhir:Reference.reference [ fhir:value "Patient/HG00403" ]
       ] ;
       fhir:Observation.effectiveDateTime [ fhir:value "2023-04-01"^^xsd:date ] ;
       fhir:Observation.performer [
         fhir:index 0 ;
         fhir:link <http://hl7.org/fhir/Organization/ExampleOrg> ;
         fhir:Reference.reference [ fhir:value "Organization/ExampleOrg" ]
       ] ;
       fhir:Observation.interpretation [
         fhir:index 0 ;
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction" ] ;
           fhir:Coding.code [ fhir:value "LOW" ] ;
           fhir:Coding.display [ fhir:value "Low" ]
         ]
       ] ;
       fhir:Observation.derivedFrom [
         fhir:index 0 ;
         fhir:link <http://hl7.org/fhir/Observation/variantExampleMC> ;
         fhir:Reference.reference [ fhir:value "Observation/variantExampleMC" ]
       ] ;
       fhir:Observation.component [
         fhir:index 0 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:48004-6 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "48004-6" ]
           ] ;
           fhir:CodeableConcept.text [ fhir:value "coding HGVS" ]
         ] ;
         fhir:Observation.component.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ] ;
             fhir:Coding.code [ fhir:value "NM_001366781.1:c.90T>C" ] ;
             fhir:Coding.display [ fhir:value "NM_001366781.1:c.90T>C" ]
           ]
         ]
       ], [
         fhir:index 1 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:51958-7 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "51958-7" ] ;
             fhir:Coding.display [ fhir:value "Transcript reference sequence [ID]" ]
           ]
         ] ;
         fhir:Observation.component.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ] ;
             fhir:Coding.code [ fhir:value "NM_001366781.1" ] ;
             fhir:Coding.display [ fhir:value "NM_001366781.1" ]
           ]
         ]
       ], [
         fhir:index 2 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ;
             fhir:Coding.code [ fhir:value "feature-consequence" ]
           ]
         ] ;
         fhir:Observation.component.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ] ;
             fhir:Coding.code [ fhir:value "SO:0001819" ] ;
             fhir:Coding.display [ fhir:value "synonymous_variant" ]
           ]
         ]
       ]
     ]
  ], [
     fhir:index 2 ;
     fhir:Parameters.parameter.name [ fhir:value "consequence" ] ;
     fhir:Parameters.parameter.resource [
       a fhir:Observation ;
       fhir:Resource.id [ fhir:value "MC3" ] ;
       fhir:Resource.meta [
         fhir:Meta.profile [
           fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence" ;
           fhir:index 0 ;
           fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence>
         ]
       ] ;
       fhir:DomainResource.text [
         fhir:Narrative.status [ fhir:value "generated" ] ;
         fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">Molecular Consequence</div>"
       ] ;
       fhir:Observation.status [ fhir:value "final" ] ;
       fhir:Observation.category [
         fhir:index 0 ;
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ] ;
           fhir:Coding.code [ fhir:value "laboratory" ]
         ]
       ], [
         fhir:index 1 ;
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ;
           fhir:Coding.code [ fhir:value "GE" ]
         ]
       ] ;
       fhir:Observation.code [
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ;
           fhir:Coding.code [ fhir:value "molecular-consequence" ]
         ]
       ] ;
       fhir:Observation.subject [
         fhir:link <http://hl7.org/fhir/Patient/HG00403> ;
         fhir:Reference.reference [ fhir:value "Patient/HG00403" ]
       ] ;
       fhir:Observation.effectiveDateTime [ fhir:value "2023-04-01"^^xsd:date ] ;
       fhir:Observation.performer [
         fhir:index 0 ;
         fhir:link <http://hl7.org/fhir/Organization/ExampleOrg> ;
         fhir:Reference.reference [ fhir:value "Organization/ExampleOrg" ]
       ] ;
       fhir:Observation.interpretation [
         fhir:index 0 ;
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction" ] ;
           fhir:Coding.code [ fhir:value "MOD" ] ;
           fhir:Coding.display [ fhir:value "Modifier" ]
         ]
       ] ;
       fhir:Observation.derivedFrom [
         fhir:index 0 ;
         fhir:link <http://hl7.org/fhir/Observation/variantExampleMC> ;
         fhir:Reference.reference [ fhir:value "Observation/variantExampleMC" ]
       ] ;
       fhir:Observation.component [
         fhir:index 0 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:48004-6 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "48004-6" ]
           ] ;
           fhir:CodeableConcept.text [ fhir:value "coding HGVS" ]
         ] ;
         fhir:Observation.component.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ] ;
             fhir:Coding.code [ fhir:value "NM_001395543.1:c.-171T>C" ] ;
             fhir:Coding.display [ fhir:value "NM_001395543.1:c.-171T>C" ]
           ]
         ]
       ], [
         fhir:index 1 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:51958-7 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "51958-7" ] ;
             fhir:Coding.display [ fhir:value "Transcript reference sequence [ID]" ]
           ]
         ] ;
         fhir:Observation.component.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ] ;
             fhir:Coding.code [ fhir:value "NM_001395543.1" ] ;
             fhir:Coding.display [ fhir:value "NM_001395543.1" ]
           ]
         ]
       ], [
         fhir:index 2 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ;
             fhir:Coding.code [ fhir:value "feature-consequence" ]
           ]
         ] ;
         fhir:Observation.component.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ] ;
             fhir:Coding.code [ fhir:value "SO:0001623" ] ;
             fhir:Coding.display [ fhir:value "5_prime_UTR_variant" ]
           ]
         ]
       ]
     ]
  ], [
     fhir:index 3 ;
     fhir:Parameters.parameter.name [ fhir:value "consequence" ] ;
     fhir:Parameters.parameter.resource [
       a fhir:Observation ;
       fhir:Resource.id [ fhir:value "MC4" ] ;
       fhir:Resource.meta [
         fhir:Meta.profile [
           fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence" ;
           fhir:index 0 ;
           fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence>
         ]
       ] ;
       fhir:DomainResource.text [
         fhir:Narrative.status [ fhir:value "generated" ] ;
         fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">Molecular Consequence</div>"
       ] ;
       fhir:Observation.status [ fhir:value "final" ] ;
       fhir:Observation.category [
         fhir:index 0 ;
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ] ;
           fhir:Coding.code [ fhir:value "laboratory" ]
         ]
       ], [
         fhir:index 1 ;
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ;
           fhir:Coding.code [ fhir:value "GE" ]
         ]
       ] ;
       fhir:Observation.code [
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ;
           fhir:Coding.code [ fhir:value "molecular-consequence" ]
         ]
       ] ;
       fhir:Observation.subject [
         fhir:link <http://hl7.org/fhir/Patient/HG00403> ;
         fhir:Reference.reference [ fhir:value "Patient/HG00403" ]
       ] ;
       fhir:Observation.effectiveDateTime [ fhir:value "2023-04-01"^^xsd:date ] ;
       fhir:Observation.performer [
         fhir:index 0 ;
         fhir:link <http://hl7.org/fhir/Organization/ExampleOrg> ;
         fhir:Reference.reference [ fhir:value "Organization/ExampleOrg" ]
       ] ;
       fhir:Observation.interpretation [
         fhir:index 0 ;
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction" ] ;
           fhir:Coding.code [ fhir:value "MOD" ] ;
           fhir:Coding.display [ fhir:value "Modifier" ]
         ]
       ] ;
       fhir:Observation.derivedFrom [
         fhir:index 0 ;
         fhir:link <http://hl7.org/fhir/Observation/variantExampleMC> ;
         fhir:Reference.reference [ fhir:value "Observation/variantExampleMC" ]
       ] ;
       fhir:Observation.component [
         fhir:index 0 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:51958-7 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "51958-7" ] ;
             fhir:Coding.display [ fhir:value "Transcript reference sequence [ID]" ]
           ]
         ] ;
         fhir:Observation.component.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ] ;
             fhir:Coding.code [ fhir:value "NM_001395544.1" ] ;
             fhir:Coding.display [ fhir:value "NM_001395544.1" ]
           ]
         ]
       ], [
         fhir:index 1 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ;
             fhir:Coding.code [ fhir:value "feature-consequence" ]
           ]
         ] ;
         fhir:Observation.component.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ] ;
             fhir:Coding.code [ fhir:value "SO:0001627" ] ;
             fhir:Coding.display [ fhir:value "intron_variant" ]
           ]
         ]
       ]
     ]
  ], [
     fhir:index 4 ;
     fhir:Parameters.parameter.name [ fhir:value "variant" ] ;
     fhir:Parameters.parameter.resource [
       a fhir:Observation ;
       fhir:Resource.id [ fhir:value "variantExampleMC" ] ;
       fhir:Resource.meta [
         fhir:Meta.profile [
           fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" ;
           fhir:index 0 ;
           fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>
         ]
       ] ;
       fhir:DomainResource.text [
         fhir:Narrative.status [ fhir:value "generated" ] ;
         fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">Variant</div>"
       ] ;
       fhir:Observation.status [ fhir:value "final" ] ;
       fhir:Observation.category [
         fhir:index 0 ;
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ] ;
           fhir:Coding.code [ fhir:value "laboratory" ]
         ]
       ], [
         fhir:index 1 ;
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ;
           fhir:Coding.code [ fhir:value "GE" ]
         ]
       ] ;
       fhir:Observation.code [
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           a loinc:69548-6 ;
           fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
           fhir:Coding.code [ fhir:value "69548-6" ] ;
           fhir:Coding.display [ fhir:value "Genetic variant assessment" ]
         ]
       ] ;
       fhir:Observation.subject [
         fhir:link <http://hl7.org/fhir/Patient/HG00403> ;
         fhir:Reference.reference [ fhir:value "Patient/HG00403" ]
       ] ;
       fhir:Observation.effectiveDateTime [ fhir:value "2023-04-01"^^xsd:date ] ;
       fhir:Observation.performer [
         fhir:index 0 ;
         fhir:link <http://hl7.org/fhir/Organization/ExampleOrg> ;
         fhir:Reference.reference [ fhir:value "Organization/ExampleOrg" ]
       ] ;
       fhir:Observation.valueCodeableConcept [
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           a loinc:LA9633-4 ;
           fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
           fhir:Coding.code [ fhir:value "LA9633-4" ] ;
           fhir:Coding.display [ fhir:value "Present" ]
         ]
       ] ;
       fhir:Observation.component [
         fhir:index 0 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:48002-0 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "48002-0" ] ;
             fhir:Coding.display [ fhir:value "Genomic source class" ]
           ]
         ] ;
         fhir:Observation.component.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:LA6683-2 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "LA6683-2" ] ;
             fhir:Coding.display [ fhir:value "Germline" ]
           ]
         ]
       ], [
         fhir:index 1 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:48013-7 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "48013-7" ] ;
             fhir:Coding.display [ fhir:value "Genomic reference sequence ID" ]
           ]
         ] ;
         fhir:Observation.component.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ] ;
             fhir:Coding.code [ fhir:value "NC_000001.10" ]
           ]
         ]
       ], [
         fhir:index 2 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:53034-5 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "53034-5" ] ;
             fhir:Coding.display [ fhir:value "Allelic state" ]
           ]
         ] ;
         fhir:Observation.component.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:LA6706-1 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "LA6706-1" ] ;
             fhir:Coding.display [ fhir:value "Heterozygous" ]
           ]
         ]
       ], [
         fhir:index 3 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:81252-9 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "81252-9" ] ;
             fhir:Coding.display [ fhir:value "Discrete genetic variant" ]
           ]
         ] ;
         fhir:Observation.component.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ] ;
             fhir:Coding.code [ fhir:value "NC_000001.10:g.86852621A>G" ] ;
             fhir:Coding.display [ fhir:value "NC_000001.10:g.86852621A>G" ]
           ]
         ]
       ], [
         fhir:index 4 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:81258-6 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "81258-6" ] ;
             fhir:Coding.display [ fhir:value "Sample VAF" ]
           ]
         ] ;
         fhir:Observation.component.valueQuantity [
           fhir:Quantity.value [ fhir:value "0.6"^^xsd:decimal ] ;
           fhir:Quantity.unit [ fhir:value "relative frequency of a particular allele in the specimen" ] ;
           fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ] ;
           fhir:Quantity.code [ fhir:value "1" ]
         ]
       ], [
         fhir:index 5 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:69547-8 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "69547-8" ] ;
             fhir:Coding.display [ fhir:value "Genomic Ref allele [ID]" ]
           ]
         ] ;
         fhir:Observation.component.valueString [ fhir:value "A" ]
       ], [
         fhir:index 6 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:69551-0 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "69551-0" ] ;
             fhir:Coding.display [ fhir:value "Genomic Alt allele [ID]" ]
           ]
         ] ;
         fhir:Observation.component.valueString [ fhir:value "G" ]
       ], [
         fhir:index 7 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:92822-6 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "92822-6" ] ;
             fhir:Coding.display [ fhir:value "Genomic coord system" ]
           ]
         ] ;
         fhir:Observation.component.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:LA30100-4 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "LA30100-4" ] ;
             fhir:Coding.display [ fhir:value "0-based interval counting" ]
           ]
         ]
       ], [
         fhir:index 8 ;
         fhir:Observation.component.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:81254-5 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "81254-5" ] ;
             fhir:Coding.display [ fhir:value "Genomic allele start-end" ]
           ]
         ] ;
         fhir:Observation.component.valueRange [
           fhir:Range.low [
             fhir:Quantity.value [ fhir:value "86852620"^^xsd:decimal ]
           ]
         ]
       ]
     ]
  ] .

<http://hl7.org/fhir/Patient/HG00403> a fhir:Patient .

<http://hl7.org/fhir/Organization/ExampleOrg> a fhir:Organization .

<http://hl7.org/fhir/Observation/variantExampleMC> a fhir:Observation .

# - ontology header ------------------------------------------------------------

<http://hl7.org/fhir/Parameters/FindSubjectMolecConseqOutput.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/Parameters/FindSubjectMolecConseqOutput.ttl> .