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

: Find Subject Molecular Consequences - 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 rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

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

<http://hl7.org/fhir/OperationDefinition/find-subject-molecular-consequences> a fhir:OperationDefinition ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "find-subject-molecular-consequences"] ;
  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: OperationDefinition find-subject-molecular-consequences</b></p><a name=\"find-subject-molecular-consequences\"> </a><a name=\"hcfind-subject-molecular-consequences\"> </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 consequences 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>featureConsequences</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 consequences sought. Must be in token or codesystem|code format. (These will generally be coded with Sequence Ontology codes under SO:0001537)</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>consequence</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/observation.html\">Observation</a></td><td/><td><div><p>Consequences must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence]. The target(s) of the consequence'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>"
  ] ;
  fhir:DomainResource.extension [
     fhir:index 0 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg" ] ;
     fhir:Extension.valueCode [ fhir:value "cg" ]
  ], [
     fhir:index 1 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm" ] ;
     fhir:Extension.valueInteger [
       fhir:value "2"^^xsd:integer ;
       fhir:Element.extension [
         fhir:index 0 ;
         fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom" ] ;
         fhir:Extension.valueCanonical [
           fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting" ;
           fhir:link <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>
         ]
       ]
     ]
  ], [
     fhir:index 2 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status" ] ;
     fhir:Extension.valueCode [
       fhir:value "trial-use" ;
       fhir:Element.extension [
         fhir:index 0 ;
         fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom" ] ;
         fhir:Extension.valueCanonical [
           fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting" ;
           fhir:link <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>
         ]
       ]
     ]
  ] ;
  fhir:OperationDefinition.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-molecular-consequences"] ;
  fhir:OperationDefinition.version [ fhir:value "4.0.0-cibuild"] ;
  fhir:OperationDefinition.name [ fhir:value "FindSubjectMolecularConsequences"] ;
  fhir:OperationDefinition.title [ fhir:value "Find Subject Molecular Consequences"] ;
  fhir:OperationDefinition.status [ fhir:value "active"] ;
  fhir:OperationDefinition.kind [ fhir:value "operation"] ;
  fhir:OperationDefinition.date [ fhir:value "2026-09-21T13:24:35+00:00"^^xsd:dateTime] ;
  fhir:OperationDefinition.publisher [ fhir:value "HL7 International / Clinical Genomics"] ;
  fhir:OperationDefinition.contact [
     fhir:index 0 ;
     fhir:ContactDetail.name [ fhir:value "HL7 International / Clinical Genomics" ] ;
     fhir:ContactDetail.telecom [
       fhir:index 0 ;
       fhir:ContactPoint.system [ fhir:value "url" ] ;
       fhir:ContactPoint.value [ fhir:value "http://www.hl7.org/Special/committees/clingenomics" ]
     ], [
       fhir:index 1 ;
       fhir:ContactPoint.system [ fhir:value "email" ] ;
       fhir:ContactPoint.value [ fhir:value "cg@lists.HL7.org" ]
     ]
  ] ;
  fhir:OperationDefinition.description [ fhir:value "Retrieves molecular consequences of a DNA variant."] ;
  fhir:OperationDefinition.jurisdiction [
     fhir:index 0 ;
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       fhir:Coding.system [ fhir:value "http://unstats.un.org/unsd/methods/m49/m49.htm" ] ;
       fhir:Coding.code [ fhir:value "001" ] ;
       fhir:Coding.display [ fhir:value "World" ]
     ]
  ] ;
  fhir:OperationDefinition.code [ fhir:value "match"] ;
  fhir:OperationDefinition.system [ fhir:value "false"^^xsd:boolean] ;
  fhir:OperationDefinition.type [ fhir:value "true"^^xsd:boolean] ;
  fhir:OperationDefinition.instance [ fhir:value "false"^^xsd:boolean] ;
  fhir:OperationDefinition.parameter [
     fhir:index 0 ;
     fhir:OperationDefinition.parameter.name [ fhir:value "subject" ] ;
     fhir:OperationDefinition.parameter.use [ fhir:value "in" ] ;
     fhir:OperationDefinition.parameter.min [ fhir:value "1"^^xsd:integer ] ;
     fhir:OperationDefinition.parameter.max [ fhir:value "1" ] ;
     fhir:OperationDefinition.parameter.documentation [ fhir:value "The subject of interest." ] ;
     fhir:OperationDefinition.parameter.type [ fhir:value "string" ] ;
     fhir:OperationDefinition.parameter.searchType [ fhir:value "reference" ]
  ], [
     fhir:index 1 ;
     fhir:OperationDefinition.parameter.name [ fhir:value "variants" ] ;
     fhir:OperationDefinition.parameter.use [ fhir:value "in" ] ;
     fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
     fhir:OperationDefinition.parameter.max [ fhir:value "*" ] ;
     fhir:OperationDefinition.parameter.documentation [ fhir:value "List of variants from which consequences are derived. Must be in HGVS or SPDI format." ] ;
     fhir:OperationDefinition.parameter.type [ fhir:value "string" ] ;
     fhir:OperationDefinition.parameter.searchType [ fhir:value "string" ]
  ], [
     fhir:index 2 ;
     fhir:OperationDefinition.parameter.name [ fhir:value "ranges" ] ;
     fhir:OperationDefinition.parameter.use [ fhir:value "in" ] ;
     fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
     fhir:OperationDefinition.parameter.max [ fhir:value "*" ] ;
     fhir:OperationDefinition.parameter.documentation [ fhir:value "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:OperationDefinition.parameter.type [ fhir:value "string" ] ;
     fhir:OperationDefinition.parameter.searchType [ fhir:value "special" ]
  ], [
     fhir:index 3 ;
     fhir:OperationDefinition.parameter.name [ fhir:value "featureConsequences" ] ;
     fhir:OperationDefinition.parameter.use [ fhir:value "in" ] ;
     fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
     fhir:OperationDefinition.parameter.max [ fhir:value "*" ] ;
     fhir:OperationDefinition.parameter.documentation [ fhir:value "List of consequences sought. Must be in token or codesystem|code format. (These will generally be coded with Sequence Ontology codes under SO:0001537)" ] ;
     fhir:OperationDefinition.parameter.type [ fhir:value "string" ] ;
     fhir:OperationDefinition.parameter.searchType [ fhir:value "token" ]
  ], [
     fhir:index 4 ;
     fhir:OperationDefinition.parameter.name [ fhir:value "testIdentifiers" ] ;
     fhir:OperationDefinition.parameter.use [ fhir:value "in" ] ;
     fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
     fhir:OperationDefinition.parameter.max [ fhir:value "*" ] ;
     fhir:OperationDefinition.parameter.documentation [ fhir:value "Supply a list of test identifiers. Only results originating from one of these tests will be returned." ] ;
     fhir:OperationDefinition.parameter.type [ fhir:value "string" ] ;
     fhir:OperationDefinition.parameter.searchType [ fhir:value "token" ]
  ], [
     fhir:index 5 ;
     fhir:OperationDefinition.parameter.name [ fhir:value "testDateRange" ] ;
     fhir:OperationDefinition.parameter.use [ fhir:value "in" ] ;
     fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
     fhir:OperationDefinition.parameter.max [ fhir:value "1" ] ;
     fhir:OperationDefinition.parameter.documentation [ fhir:value "Supply a date range. Only results generated during this range will be returned." ] ;
     fhir:OperationDefinition.parameter.type [ fhir:value "Period" ]
  ], [
     fhir:index 6 ;
     fhir:OperationDefinition.parameter.name [ fhir:value "specimenIdentifiers" ] ;
     fhir:OperationDefinition.parameter.use [ fhir:value "in" ] ;
     fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
     fhir:OperationDefinition.parameter.max [ fhir:value "*" ] ;
     fhir:OperationDefinition.parameter.documentation [ fhir:value "Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned." ] ;
     fhir:OperationDefinition.parameter.type [ fhir:value "string" ] ;
     fhir:OperationDefinition.parameter.searchType [ fhir:value "token" ]
  ], [
     fhir:index 7 ;
     fhir:OperationDefinition.parameter.name [ fhir:value "genomicSourceClass" ] ;
     fhir:OperationDefinition.parameter.use [ fhir:value "in" ] ;
     fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
     fhir:OperationDefinition.parameter.max [ fhir:value "1" ] ;
     fhir:OperationDefinition.parameter.documentation [ fhir:value "Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class." ] ;
     fhir:OperationDefinition.parameter.type [ fhir:value "string" ] ;
     fhir:OperationDefinition.parameter.searchType [ fhir:value "token" ]
  ], [
     fhir:index 8 ;
     fhir:Element.extension [
       fhir:index 0 ;
       fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile" ] ;
       fhir:Extension.valueUri [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence" ]
     ] ;
     fhir:OperationDefinition.parameter.name [ fhir:value "consequence" ] ;
     fhir:OperationDefinition.parameter.use [ fhir:value "out" ] ;
     fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
     fhir:OperationDefinition.parameter.max [ fhir:value "*" ] ;
     fhir:OperationDefinition.parameter.documentation [ fhir:value "Consequences must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence]. The target(s) of the consequence's derivedFrom shall also be included in the response." ] ;
     fhir:OperationDefinition.parameter.type [ fhir:value "Observation" ]
  ], [
     fhir:index 9 ;
     fhir:Element.extension [
       fhir:index 0 ;
       fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile" ] ;
       fhir:Extension.valueUri [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" ]
     ] ;
     fhir:OperationDefinition.parameter.name [ fhir:value "variant" ] ;
     fhir:OperationDefinition.parameter.use [ fhir:value "out" ] ;
     fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
     fhir:OperationDefinition.parameter.max [ fhir:value "*" ] ;
     fhir:OperationDefinition.parameter.documentation [ fhir:value "Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant]." ] ;
     fhir:OperationDefinition.parameter.type [ fhir:value "Observation" ]
  ] .

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

<http://hl7.org/fhir/OperationDefinition/find-subject-molecular-consequences.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/OperationDefinition/find-subject-molecular-consequences.ttl> .