Molecular Definition Implementation Guide for Molecular Data Types, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 1.0.0-ballot1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/molecular-definition-data-types/ and changes regularly. See the Directory of published versions

• Narrative Content
• XML
• JSON
• TTL

: example-variation-tri-allelic-ABCB1 - 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 rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

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

 a fhir:MolecularDefinition ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "example-variation-tri-allelic-ABCB1"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/variation"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/variation>     ] )
  ] ; # 
  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: MolecularDefinition example-variation-tri-allelic-ABCB1</b></p><a name=\"example-variation-tri-allelic-ABCB1\"> </a><a name=\"hcexample-variation-tri-allelic-ABCB1\"> </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-variation.html\">Variation</a></p></div><p><b>moleculeType</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type dna}\">DNA Sequence</span></p><p><b>type</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type dna}\">DNA Sequence</span></p><blockquote><p><b>location</b></p><blockquote><p><b>sequenceLocation</b></p><p><b>sequenceContext</b>: <a href=\"MolecularDefinition-example-sequence-nc00000714-url.html\">Homo sapiens chromosome 7, GRCh38.p14 Primary Assembly, NC_000007.14</a></p><blockquote><p><b>coordinateInterval</b></p><h3>CoordinateSystems</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>System</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org LA30100-4}\">0-based interval counting</span></td></tr></table><p><b>start</b>: 87531302</p></blockquote></blockquote></blockquote><blockquote><p><b>representation</b></p><p><b>focus</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus reference-state}\">Reference State</span></p><h3>Literals</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Value</b></td></tr><tr><td style=\"display: none\">*</td><td>A</td></tr></table></blockquote><blockquote><p><b>representation</b></p><p><b>focus</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus alternative-state}\">Alternative State</span></p><h3>Literals</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Value</b></td></tr><tr><td style=\"display: none\">*</td><td>C</td></tr></table></blockquote><blockquote><p><b>representation</b></p><p><b>focus</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus context-state}\">Context State</span></p><h3>Literals</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Value</b></td></tr><tr><td style=\"display: none\">*</td><td>T</td></tr></table></blockquote></div>"^^rdf:XMLLiteral
  ] ; # 
  fhir:moleculeType [
    ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type"^^xsd:anyURI ] ;
fhir:code [ fhir:v "dna" ] ;
fhir:display [ fhir:v "DNA Sequence" ]     ] )
  ] ; # 
  fhir:type ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type"^^xsd:anyURI ] ;
fhir:code [ fhir:v "dna" ] ;
fhir:display [ fhir:v "DNA Sequence" ]     ] )
  ] ) ; # 
  fhir:location ( [
fhir:sequenceLocation [
fhir:sequenceContext [
fhir:reference [ fhir:v "MolecularDefinition/example-sequence-nc00000714-url" ] ;
fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
fhir:display [ fhir:v "Homo sapiens chromosome 7, GRCh38.p14 Primary Assembly, NC_000007.14" ]       ] ;
fhir:coordinateInterval [
fhir:coordinateSystem [
fhir:system [
            ( fhir:coding [
a loinc:LA30100-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA30100-4" ] ;
fhir:display [ fhir:v "0-based interval counting" ]             ] )           ]         ] ;
fhir:start [
a fhir:Quantity ;
fhir:value [ fhir:v "87531302"^^xsd:decimal ]         ]       ]     ]
  ] ) ; # 
  fhir:representation ( [
fhir:focus [
      ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus"^^xsd:anyURI ] ;
fhir:code [ fhir:v "reference-state" ] ;
fhir:display [ fhir:v "Reference State" ]       ] )     ] ;
fhir:literal [
fhir:value [ fhir:v "A" ]     ]
  ] [
fhir:focus [
      ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus"^^xsd:anyURI ] ;
fhir:code [ fhir:v "alternative-state" ] ;
fhir:display [ fhir:v "Alternative State" ]       ] )     ] ;
fhir:literal [
fhir:value [ fhir:v "C" ]     ]
  ] [
fhir:focus [
      ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus"^^xsd:anyURI ] ;
fhir:code [ fhir:v "context-state" ] ;
fhir:display [ fhir:v "Context State" ]       ] )     ] ;
fhir:literal [
fhir:value [ fhir:v "T" ]     ]
  ] ) . #