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

: molec-conseq4 - TTL Representation

Page standards status: Informative

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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/Observation/molec-conseq4> a fhir:Observation ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "molec-conseq4"] ;
  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\"><p class=\"res-header-id\"><b>Generated Narrative: Observation molec-conseq4</b></p><a name=\"molec-conseq4\"> </a><a name=\"hcmolec-conseq4\"> </a><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\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-molecular-consequence.html\">Molecular Consequence</a></p></div><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 molecular-consequence}\">Molecular Consequence</span></p><p><b>subject</b>: <a href=\"Patient-HG00403.html\">Alanine B. Everyone  Unknown, DoB: 1951-01-20 ( Medical Record Number: m234 (use: usual, ))</a></p><p><b>effective</b>: 2023-06-01</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>interpretation</b>: <span title=\"Codes:{http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction MOD}\">Modifier</span></p><p><b>derivedFrom</b>: <a href=\"Observation-variant-with-molec-consequences.html\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_001395544.1}\">NM_001395544.1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs feature-consequence}\">Feature Consequence</span></p><p><b>value</b>: <span title=\"Codes:{http://www.sequenceontology.org SO:0001627}\">intron_variant</span></p></blockquote></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 "2023-06-01"^^xsd:date] ;
  fhir:Observation.performer [
     fhir:index 0 ;
     fhir:link <http://hl7.org/fhir/Organization/ExampleLab> ;
     fhir:Reference.reference [ fhir:value "Organization/ExampleLab" ]
  ] ;
  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/variant-with-molec-consequences> ;
     fhir:Reference.reference [ fhir:value "Observation/variant-with-molec-consequences" ]
  ] ;
  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" ]
       ]
     ]
  ] .

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

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

<http://hl7.org/fhir/Observation/variant-with-molec-consequences> a fhir:Observation .

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

<http://hl7.org/fhir/Observation/molec-conseq4.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/Observation/molec-conseq4.ttl> .