Phenomics Exchange for Research and Diagnostics
0.1.0 - ci-build International flag

Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

Resource Profile: PhenopacketsGenomicInterpretation - Mappings

Draft as of 2021-10-18

Mappings for the phenopackets-genomic-interpretation resource profile.

Mappings for Workflow Pattern (http://hl7.org/fhir/workflow)

PhenopacketsGenomicInterpretation
DiagnosticReportEvent
   identifierEvent.identifier
   basedOnEvent.basedOn
   statusEvent.status
   codeEvent.code
   subjectEvent.subject
   encounterEvent.encounter
   effective[x]Event.occurrence[x]
   performerEvent.performer.actor
   resultsInterpreterEvent.performer.actor

Mappings for HL7 v2 Mapping (http://hl7.org/v2)

PhenopacketsGenomicInterpretation
DiagnosticReportORU -> OBR
   identifierOBR-51/ for globally unique filler ID - OBR-3 , For non-globally unique filler-id the flller/placer number must be combined with the universal service Id - OBR-2(if present)+OBR-3+OBR-4
   basedOnORC? OBR-2/3?
   statusOBR-25 (not 1:1 mapping)
   categoryOBR-24
   category (Genetics)OBR-24
      codingC*E.1-8, C*E.10-22
      textC*E.9. But note many systems use C*E.2 for this
   codeOBR-4 (HL7 v2 doesn't provide an easy way to indicate both the ordered test and the performed panel)
   subjectPID-3 (no HL7 v2 mapping for Group or Device)
   encounterPV1-19
   effective[x]OBR-7
   issuedOBR-22
   performerPRT-8 (where this PRT-4-Participation = "PO")
   resultsInterpreterOBR-32, PRT-8 (where this PRT-4-Participation = "PI")
   specimenSPM
   resultOBXs
   result (overall)OBXs
   result (diagnostic-implication)OBXs
   result (therapeutic-implication)OBXs
   result (variant)OBXs
   result (sequence-phase-relation)OBXs
   result (region-studied)OBXs
   result (genotype)OBXs
   result (haplotype)OBXs
   mediaOBX?
   conclusionOBX
   conclusionCodeOBX
   presentedFormOBX

Mappings for RIM Mapping (http://hl7.org/v3)

PhenopacketsGenomicInterpretation
DiagnosticReportEntity. Role, or Act, Observation[classCode=OBS, moodCode=EVN]
   textAct.text?
   containedN/A
   identifierid
   basedOnoutboundRelationship[typeCode=FLFS].target
   statusstatusCode Note: final and amended are distinguished by whether observation is the subject of a ControlAct event of type "revise"
   categoryinboundRelationship[typeCode=COMP].source[classCode=LIST, moodCode=EVN, code < LabService].code
   category (Genetics)inboundRelationship[typeCode=COMP].source[classCode=LIST, moodCode=EVN, code < LabService].code
      idn/a
      extensionn/a
      codingunion(., ./translation)
      text./originalText[mediaType/code="text/plain"]/data
   codecode
   subjectparticipation[typeCode=SBJ]
   encounterinboundRelationship[typeCode=COMP].source[classCode=ENC, moodCode=EVN]
   effective[x]effectiveTime
   issuedparticipation[typeCode=VRF or AUT].time
   performer.participation[typeCode=PRF]
   resultsInterpreter.participation[typeCode=PRF]
   specimenparticipation[typeCode=SBJ]
   resultoutboundRelationship[typeCode=COMP].target
   result (overall)outboundRelationship[typeCode=COMP].target
   result (diagnostic-implication)outboundRelationship[typeCode=COMP].target
   result (therapeutic-implication)outboundRelationship[typeCode=COMP].target
   result (variant)outboundRelationship[typeCode=COMP].target
   result (sequence-phase-relation)outboundRelationship[typeCode=COMP].target
   result (region-studied)outboundRelationship[typeCode=COMP].target
   result (genotype)outboundRelationship[typeCode=COMP].target
   result (haplotype)outboundRelationship[typeCode=COMP].target
   imagingStudyoutboundRelationship[typeCode=COMP].target[classsCode=DGIMG, moodCode=EVN]
   mediaoutboundRelationship[typeCode=COMP].target
      idn/a
      extensionn/a
      modifierExtensionN/A
      comment.inboundRelationship[typeCode=COMP].source[classCode=OBS, moodCode=EVN, code="annotation"].value
      link.value.reference
   conclusioninboundRelationship[typeCode="SPRT"].source[classCode=OBS, moodCode=EVN, code=LOINC:48767-8].value (type=ST)
   conclusionCodeinboundRelationship[typeCode=SPRT].source[classCode=OBS, moodCode=EVN, code=LOINC:54531-9].value (type=CD)
   presentedFormtext (type=ED)

Mappings for FiveWs Pattern Mapping (http://hl7.org/fhir/fivews)

PhenopacketsGenomicInterpretation
DiagnosticReport
   identifierFiveWs.identifier
   statusFiveWs.status
   categoryFiveWs.class
   category (Genetics)FiveWs.class
   codeFiveWs.what[x]
   subjectFiveWs.subject[x], FiveWs.subject
   encounterFiveWs.context
   effective[x]FiveWs.done[x]
   issuedFiveWs.recorded
   performerFiveWs.actor
   resultsInterpreterFiveWs.actor