Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

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

## : MultipleRepeatExpansions - TTL Representation

Page standards status: Informative

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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:Observation ;
      fhir:nodeRole fhir:treeRoot ;
      fhir:id [ fhir:v "MultipleRepeatExpansions"] ; #
      fhir:meta [
        ( fhir:profile [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>     ] )
      ] ; #
      fhir:text [
    fhir:status [ fhir:v "extensions" ] ;
    fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation MultipleRepeatExpansions</b></p><a name=\"MultipleRepeatExpansions\"> </a><a name=\"hcMultipleRepeatExpansions\"> </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-variant.html\">Variant</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://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-ExamplePatient.html\">Anonymous Patient (no stated gender), DoB Unknown</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>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 48018-6}\">Gene studied ID</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:3775}\">FMR1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48001-2}\">Cytogenetic (chromosome) location</span></p><p><b>value</b>: <span title=\"Codes:\">chrx</span></p></blockquote><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_002024.5}\">NM_002024.5</span></p></blockquote><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_002024.5:c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[10]}\">NM_002024.5:c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[10]</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81254-5}\">Genomic allele start-end</span></p><p><b>value</b>: 3-?</p></blockquote><blockquote><p><b>component</b></p><p><b>Repeat Motif Order</b>: 1</p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs repeat-motif}\">Repeat Expansion Motif</span></p><p><b>value</b>: GGC</p></blockquote><blockquote><p><b>component</b></p><p><b>Repeat Motif Order</b>: 1</p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs repeat-number}\">Number of Repeat Expansions</span></p><p><b>value</b>: 10</p></blockquote><blockquote><p><b>component</b></p><p><b>Repeat Motif Order</b>: 2</p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs repeat-motif}\">Repeat Expansion Motif</span></p><p><b>value</b>: GGA</p></blockquote><blockquote><p><b>component</b></p><p><b>Repeat Motif Order</b>: 2</p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs repeat-number}\">Number of Repeat Expansions</span></p><p><b>value</b>: 1</p></blockquote><blockquote><p><b>component</b></p><p><b>Repeat Motif Order</b>: 3</p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs repeat-motif}\">Repeat Expansion Motif</span></p><p><b>value</b>: GGC</p></blockquote><blockquote><p><b>component</b></p><p><b>Repeat Motif Order</b>: 3</p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs repeat-number}\">Number of Repeat Expansions</span></p><p><b>value</b>: 9</p></blockquote><blockquote><p><b>component</b></p><p><b>Repeat Motif Order</b>: 4</p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs repeat-motif}\">Repeat Expansion Motif</span></p><p><b>value</b>: GGA</p></blockquote><blockquote><p><b>component</b></p><p><b>Repeat Motif Order</b>: 4</p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs repeat-number}\">Number of Repeat Expansions</span></p><p><b>value</b>: 1</p></blockquote><blockquote><p><b>component</b></p><p><b>Repeat Motif Order</b>: 5</p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs repeat-motif}\">Repeat Expansion Motif</span></p><p><b>value</b>: GGC</p></blockquote><blockquote><p><b>component</b></p><p><b>Repeat Motif Order</b>: 5</p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs repeat-number}\">Number of Repeat Expansions</span></p><p><b>value</b>: 10</p></blockquote></div>"^^rdf:XMLLiteral ]
      ] ; #
      fhir:status [ fhir:v "final"] ; #
      fhir:category ( [
        ( fhir:coding [
    fhir:system [
    fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ;
    fhir:l <http://terminology.hl7.org/CodeSystem/observation-category>       ] ;
    fhir:code [ fhir:v "laboratory" ]     ] )
      ] [
        ( fhir:coding [
    fhir:system [
    fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ;
    fhir:l <http://terminology.hl7.org/CodeSystem/v2-0074>       ] ;
    fhir:code [ fhir:v "GE" ]     ] )
      ] ) ; #
      fhir:code [
        ( fhir:coding [
    a loinc:69548-6 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>       ] ;
    fhir:code [ fhir:v "69548-6" ] ;
    fhir:display [ fhir:v "Genetic variant assessment" ]     ] )
      ] ; #
      fhir:subject [
    fhir:l fhir:Patient/ExamplePatient ;
    fhir:reference [ fhir:v "Patient/ExamplePatient" ]
      ] ; #
      fhir:effective [
    a fhir:DateTime ;
    fhir:v "2023-06-01"^^xsd:date
      ] ; #
      fhir:performer ( [
    fhir:l fhir:Organization/ExampleLab ;
    fhir:reference [ fhir:v "Organization/ExampleLab" ]
      ] ) ; #
      fhir:value [
    a fhir:CodeableConcept ;
        ( fhir:coding [
    a loinc:LA9633-4 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>       ] ;
    fhir:code [ fhir:v "LA9633-4" ] ;
    fhir:display [ fhir:v "Present" ]     ] )
      ] ; #
      fhir:component ( [
    fhir:code [
          ( fhir:coding [
    a loinc:48018-6 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>         ] ;
    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:l <http://www.genenames.org>         ] ;
    fhir:code [ fhir:v "HGNC:3775" ] ;
    fhir:display [ fhir:v "FMR1" ]       ] )     ]
      ] [
    fhir:code [
          ( fhir:coding [
    a loinc:48001-2 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>         ] ;
    fhir:code [ fhir:v "48001-2" ] ;
    fhir:display [ fhir:v "Cytogenetic (chromosome) location" ]       ] )     ] ;
    fhir:value [
    a fhir:CodeableConcept ;
    fhir:text [ fhir:v "chrx" ]     ]
      ] [
    fhir:code [
          ( fhir:coding [
    a loinc:51958-7 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>         ] ;
    fhir:code [ fhir:v "51958-7" ] ;
    fhir:display [ fhir:v "Transcript reference sequence [ID]" ]       ] )     ] ;
    fhir:value [
    a fhir:CodeableConcept ;
          ( fhir:coding [
    fhir:system [
    fhir:v "http://www.ncbi.nlm.nih.gov/refseq"^^xsd:anyURI ;
    fhir:l <http://www.ncbi.nlm.nih.gov/refseq>         ] ;
    fhir:code [ fhir:v "NM_002024.5" ] ;
    fhir:display [ fhir:v "NM_002024.5" ]       ] )     ]
      ] [
    fhir:code [
          ( fhir:coding [
    a loinc:48004-6 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>         ] ;
    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:l <http://varnomen.hgvs.org>         ] ;
    fhir:code [ fhir:v "NM_002024.5:c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[10]" ] ;
    fhir:display [ fhir:v "NM_002024.5:c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[10]" ]       ] )     ]
      ] [
    fhir:code [
          ( fhir:coding [
    a loinc:81254-5 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>         ] ;
    fhir:code [ fhir:v "81254-5" ] ;
    fhir:display [ fhir:v "Genomic allele start-end" ]       ] )     ] ;
    fhir:value [
    a fhir:Range ;
    fhir:low [
    fhir:value [ fhir:v "3"^^xsd:decimal ]       ]     ]
      ] [
        ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order>       ] ;
    fhir:value [
    a fhir:PositiveInt ;
    fhir:v "1"^^xsd:positiveInteger       ]     ] ) ;
    fhir:code [
          ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>         ] ;
    fhir:code [ fhir:v "repeat-motif" ] ;
    fhir:display [ fhir:v "Repeat Expansion Motif" ]       ] )     ] ;
    fhir:value [
    a fhir:String ;
    fhir:v "GGC"     ]
      ] [
        ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order>       ] ;
    fhir:value [
    a fhir:PositiveInt ;
    fhir:v "1"^^xsd:positiveInteger       ]     ] ) ;
    fhir:code [
          ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>         ] ;
    fhir:code [ fhir:v "repeat-number" ] ;
    fhir:display [ fhir:v "Number of Repeat Expansions" ]       ] )     ] ;
    fhir:value [
    a fhir:Quantity ;
    fhir:value [ fhir:v "10"^^xsd:decimal ]     ]
      ] [
        ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order>       ] ;
    fhir:value [
    a fhir:PositiveInt ;
    fhir:v "2"^^xsd:positiveInteger       ]     ] ) ;
    fhir:code [
          ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>         ] ;
    fhir:code [ fhir:v "repeat-motif" ] ;
    fhir:display [ fhir:v "Repeat Expansion Motif" ]       ] )     ] ;
    fhir:value [
    a fhir:String ;
    fhir:v "GGA"     ]
      ] [
        ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order>       ] ;
    fhir:value [
    a fhir:PositiveInt ;
    fhir:v "2"^^xsd:positiveInteger       ]     ] ) ;
    fhir:code [
          ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>         ] ;
    fhir:code [ fhir:v "repeat-number" ] ;
    fhir:display [ fhir:v "Number of Repeat Expansions" ]       ] )     ] ;
    fhir:value [
    a fhir:Quantity ;
    fhir:value [ fhir:v "1"^^xsd:decimal ]     ]
      ] [
        ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order>       ] ;
    fhir:value [
    a fhir:PositiveInt ;
    fhir:v "3"^^xsd:positiveInteger       ]     ] ) ;
    fhir:code [
          ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>         ] ;
    fhir:code [ fhir:v "repeat-motif" ] ;
    fhir:display [ fhir:v "Repeat Expansion Motif" ]       ] )     ] ;
    fhir:value [
    a fhir:String ;
    fhir:v "GGC"     ]
      ] [
        ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order>       ] ;
    fhir:value [
    a fhir:PositiveInt ;
    fhir:v "3"^^xsd:positiveInteger       ]     ] ) ;
    fhir:code [
          ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>         ] ;
    fhir:code [ fhir:v "repeat-number" ] ;
    fhir:display [ fhir:v "Number of Repeat Expansions" ]       ] )     ] ;
    fhir:value [
    a fhir:Quantity ;
    fhir:value [ fhir:v "9"^^xsd:decimal ]     ]
      ] [
        ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order>       ] ;
    fhir:value [
    a fhir:PositiveInt ;
    fhir:v "4"^^xsd:positiveInteger       ]     ] ) ;
    fhir:code [
          ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>         ] ;
    fhir:code [ fhir:v "repeat-motif" ] ;
    fhir:display [ fhir:v "Repeat Expansion Motif" ]       ] )     ] ;
    fhir:value [
    a fhir:String ;
    fhir:v "GGA"     ]
      ] [
        ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order>       ] ;
    fhir:value [
    a fhir:PositiveInt ;
    fhir:v "4"^^xsd:positiveInteger       ]     ] ) ;
    fhir:code [
          ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>         ] ;
    fhir:code [ fhir:v "repeat-number" ] ;
    fhir:display [ fhir:v "Number of Repeat Expansions" ]       ] )     ] ;
    fhir:value [
    a fhir:Quantity ;
    fhir:value [ fhir:v "1"^^xsd:decimal ]     ]
      ] [
        ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order>       ] ;
    fhir:value [
    a fhir:PositiveInt ;
    fhir:v "5"^^xsd:positiveInteger       ]     ] ) ;
    fhir:code [
          ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>         ] ;
    fhir:code [ fhir:v "repeat-motif" ] ;
    fhir:display [ fhir:v "Repeat Expansion Motif" ]       ] )     ] ;
    fhir:value [
    a fhir:String ;
    fhir:v "GGC"     ]
      ] [
        ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order>       ] ;
    fhir:value [
    a fhir:PositiveInt ;
    fhir:v "5"^^xsd:positiveInteger       ]     ] ) ;
    fhir:code [
          ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>         ] ;
    fhir:code [ fhir:v "repeat-number" ] ;
    fhir:display [ fhir:v "Number of Repeat Expansions" ]       ] )     ] ;
    fhir:value [
    a fhir:Quantity ;
    fhir:value [ fhir:v "10"^^xsd:decimal ]     ]
      ] ) . #