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

## : Find Subject Diagnostic Implications - TTL Representation

Page standards status: Trial-use | Maturity Level: 2

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    @prefix fhir: <http://hl7.org/fhir/> .
    @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:OperationDefinition ;
      fhir:nodeRole fhir:treeRoot ;
      fhir:id [ fhir:v "find-subject-dx-implications"] ; #
      fhir:text [
    fhir:status [ fhir:v "generated" ] ;
    fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: OperationDefinition find-subject-dx-implications</b></p><a name=\"find-subject-dx-implications\"> </a><a name=\"hcfind-subject-dx-implications\"> </a><h3>Parameters</h3><table class=\"grid\"><tr><td><b>Use</b></td><td><b>Name</b></td><td><b>Scope</b></td><td><b>Cardinality</b></td><td><b>Type</b></td><td><b>Binding</b></td><td><b>Documentation</b></td></tr><tr><td>IN</td><td>subject</td><td/><td>1..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"https://hl7.org/fhir/R4/search.html#reference\">reference</a>)</td><td/><td><div><p>The subject of interest.</p>\n</div></td></tr><tr><td>IN</td><td>variants</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"https://hl7.org/fhir/R4/search.html#string\">string</a>)</td><td/><td><div><p>List of variants from which implications are derived. Must be in HGVS or SPDI format.</p>\n</div></td></tr><tr><td>IN</td><td>ranges</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"https://hl7.org/fhir/R4/search.html#special\">special</a>)</td><td/><td><div><p>List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820').</p>\n</div></td></tr><tr><td>IN</td><td>conditions</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"https://hl7.org/fhir/R4/search.html#token\">token</a>)</td><td/><td><div><p>List of conditions for which implications are sought. Must be in token or codesystem|code format.</p>\n</div></td></tr><tr><td>IN</td><td>testIdentifiers</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"https://hl7.org/fhir/R4/search.html#token\">token</a>)</td><td/><td><div><p>Supply a list of test identifiers. Only results originating from one of these tests will be returned.</p>\n</div></td></tr><tr><td>IN</td><td>testDateRange</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#Period\">Period</a></td><td/><td><div><p>Supply a date range. Only results generated during this range will be returned.</p>\n</div></td></tr><tr><td>IN</td><td>specimenIdentifiers</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"https://hl7.org/fhir/R4/search.html#token\">token</a>)</td><td/><td><div><p>Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned.</p>\n</div></td></tr><tr><td>IN</td><td>genomicSourceClass</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"https://hl7.org/fhir/R4/search.html#token\">token</a>)</td><td/><td><div><p>Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class.</p>\n</div></td></tr><tr><td>OUT</td><td>implication</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/observation.html\">Observation</a></td><td/><td><div><p>Implications must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication]. The target(s) of the implication's derivedFrom shall also be included in the response.</p>\n</div></td></tr><tr><td>OUT</td><td>variant</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/observation.html\">Observation</a></td><td/><td><div><p>Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant].</p>\n</div></td></tr></table></div>"^^rdf:XMLLiteral ]
      ] ; #
      fhir:extension ( [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-wg>     ] ;
    fhir:value [
    a fhir:Code ;
    fhir:v "cg"     ]
      ] [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm>     ] ;
    fhir:value [
    a fhir:Integer ;
    fhir:v 2 ;
          ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom>         ] ;
    fhir:value [
    a fhir:Canonical ;
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>         ]       ] )     ]
      ] [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status>     ] ;
    fhir:value [
    a fhir:Code ;
    fhir:v "trial-use" ;
          ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom>         ] ;
    fhir:value [
    a fhir:Canonical ;
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>         ]       ] )     ]
      ] ) ; #
      fhir:url [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-dx-implications"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-dx-implications>
      ] ; #
      fhir:version [ fhir:v "4.0.0-cibuild"] ; #
      fhir:name [ fhir:v "FindSubjectDxImplications"] ; #
      fhir:title [ fhir:v "Find Subject Diagnostic Implications"] ; #
      fhir:status [ fhir:v "active"] ; #
      fhir:kind [ fhir:v "operation"] ; #
      fhir:date [ fhir:v "2025-11-08T00:09:50+00:00"^^xsd:dateTime] ; #
      fhir:publisher [ fhir:v "HL7 International / Clinical Genomics"] ; #
      fhir:contact ( [
    fhir:name [ fhir:v "HL7 International / Clinical Genomics" ] ;
        ( fhir:telecom [
    fhir:system [ fhir:v "url" ] ;
    fhir:value [ fhir:v "http://www.hl7.org/Special/committees/clingenomics" ]     ] [
    fhir:system [ fhir:v "email" ] ;
    fhir:value [ fhir:v "cg@lists.HL7.org" ]     ] )
      ] ) ; #
      fhir:description [ fhir:v "Retrieves genetic diagnostic implications for variants."] ; #
      fhir:jurisdiction ( [
        ( fhir:coding [
    fhir:system [
    fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ;
    fhir:l <http://unstats.un.org/unsd/methods/m49/m49.htm>       ] ;
    fhir:code [ fhir:v "001" ] ;
    fhir:display [ fhir:v "World" ]     ] )
      ] ) ; #
      fhir:code [ fhir:v "match"] ; #
      fhir:system [ fhir:v false] ; #
      fhir:type [ fhir:v true] ; #
      fhir:instance [ fhir:v false] ; #
      fhir:parameter ( [
    fhir:name [ fhir:v "subject" ] ;
    fhir:use [ fhir:v "in" ] ;
    fhir:min [ fhir:v 1 ] ;
    fhir:max [ fhir:v "1" ] ;
    fhir:documentation [ fhir:v "The subject of interest." ] ;
    fhir:type [ fhir:v "string" ] ;
    fhir:searchType [ fhir:v "reference" ]
      ] [
    fhir:name [ fhir:v "variants" ] ;
    fhir:use [ fhir:v "in" ] ;
    fhir:min [ fhir:v 0 ] ;
    fhir:max [ fhir:v "*" ] ;
    fhir:documentation [ fhir:v "List of variants from which implications are derived. Must be in HGVS or SPDI format." ] ;
    fhir:type [ fhir:v "string" ] ;
    fhir:searchType [ fhir:v "string" ]
      ] [
    fhir:name [ fhir:v "ranges" ] ;
    fhir:use [ fhir:v "in" ] ;
    fhir:min [ fhir:v 0 ] ;
    fhir:max [ fhir:v "*" ] ;
    fhir:documentation [ fhir:v "List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820')." ] ;
    fhir:type [ fhir:v "string" ] ;
    fhir:searchType [ fhir:v "special" ]
      ] [
    fhir:name [ fhir:v "conditions" ] ;
    fhir:use [ fhir:v "in" ] ;
    fhir:min [ fhir:v 0 ] ;
    fhir:max [ fhir:v "*" ] ;
    fhir:documentation [ fhir:v "List of conditions for which implications are sought. Must be in token or codesystem|code format." ] ;
    fhir:type [ fhir:v "string" ] ;
    fhir:searchType [ fhir:v "token" ]
      ] [
    fhir:name [ fhir:v "testIdentifiers" ] ;
    fhir:use [ fhir:v "in" ] ;
    fhir:min [ fhir:v 0 ] ;
    fhir:max [ fhir:v "*" ] ;
    fhir:documentation [ fhir:v "Supply a list of test identifiers. Only results originating from one of these tests will be returned." ] ;
    fhir:type [ fhir:v "string" ] ;
    fhir:searchType [ fhir:v "token" ]
      ] [
    fhir:name [ fhir:v "testDateRange" ] ;
    fhir:use [ fhir:v "in" ] ;
    fhir:min [ fhir:v 0 ] ;
    fhir:max [ fhir:v "1" ] ;
    fhir:documentation [ fhir:v "Supply a date range. Only results generated during this range will be returned." ] ;
    fhir:type [ fhir:v "Period" ]
      ] [
    fhir:name [ fhir:v "specimenIdentifiers" ] ;
    fhir:use [ fhir:v "in" ] ;
    fhir:min [ fhir:v 0 ] ;
    fhir:max [ fhir:v "*" ] ;
    fhir:documentation [ fhir:v "Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned." ] ;
    fhir:type [ fhir:v "string" ] ;
    fhir:searchType [ fhir:v "token" ]
      ] [
    fhir:name [ fhir:v "genomicSourceClass" ] ;
    fhir:use [ fhir:v "in" ] ;
    fhir:min [ fhir:v 0 ] ;
    fhir:max [ fhir:v "1" ] ;
    fhir:documentation [ fhir:v "Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class." ] ;
    fhir:type [ fhir:v "string" ] ;
    fhir:searchType [ fhir:v "token" ]
      ] [
        ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/operationdefinition-profile>       ] ;
    fhir:value [
    a fhir:Uri ;
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication>       ]     ] ) ;
    fhir:name [ fhir:v "implication" ] ;
    fhir:use [ fhir:v "out" ] ;
    fhir:min [ fhir:v 0 ] ;
    fhir:max [ fhir:v "*" ] ;
    fhir:documentation [ fhir:v "Implications must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication]. The target(s) of the implication's derivedFrom shall also be included in the response." ] ;
    fhir:type [ fhir:v "Observation" ]
      ] [
        ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/operationdefinition-profile>       ] ;
    fhir:value [
    a fhir:Uri ;
    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:name [ fhir:v "variant" ] ;
    fhir:use [ fhir:v "out" ] ;
    fhir:min [ fhir:v 0 ] ;
    fhir:max [ fhir:v "*" ] ;
    fhir:documentation [ fhir:v "Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant]." ] ;
    fhir:type [ fhir:v "Observation" ]
      ] ) . #