Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Resource Profile: Variant - Mappings

Mappings for the variant resource profile.

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

Variant
ObservationEvent
   identifierEvent.identifier
   basedOnEvent.basedOn
   partOfEvent.partOf
   statusEvent.status
   codeEvent.code
   subjectEvent.subject
   encounterEvent.context
   effective[x]Event.occurrence[x]
   performerEvent.performer.actor

Mappings for SNOMED CT Concept Domain Binding (http://snomed.info/conceptdomain)

Variant
Observation< 363787002 |Observable entity|
   status< 445584004 |Report by finality status|
   code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
   value[x]< 441742003 |Evaluation finding|
   value[x] (valueCodeableConcept)< 441742003 |Evaluation finding|
   interpretation< 260245000 |Findings values|
   bodySite< 123037004 |Body structure|
   specimen< 123038009 |Specimen|
   device< 49062001 |Device|
   referenceRange
      type< 260245000 |Findings values| OR < 365860008 |General clinical state finding| OR < 250171008 |Clinical history or observation findings| OR < 415229000 |Racial group| OR < 365400002 |Finding of puberty stage| OR < 443938003 |Procedure carried out on subject|
      appliesTo< 260245000 |Findings values| OR < 365860008 |General clinical state finding| OR < 250171008 |Clinical history or observation findings| OR < 415229000 |Racial group| OR < 365400002 |Finding of puberty stage| OR < 443938003 |Procedure carried out on subject|
   component
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (conclusion-string)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (gene-studied)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (cytogenetic-location)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (reference-sequence-assembly)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (coding-hgvs)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (genomic-hgvs)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (cytogenomic-nomenclature)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (genomic-ref-seq)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (transcript-ref-seq)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (exact-start-end)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (inner-start-end)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (outer-start-end)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (coordinate-system)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (ref-allele)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (alt-allele)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (coding-change-type)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (genomic-source-class)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (sample-allelic-frequency)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (allelic-read-depth)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (allelic-state)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (variant-inheritance)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (variation-code)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (chromosome-identifier)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (protein-hgvs)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (amino-acid-change-type)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (molecular-consequence)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (copy-number)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|
   component (variant-confidence-status)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      value[x]363714003 |Interprets| < 441742003 |Evaluation finding|
      interpretation< 260245000 |Findings values|

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

Variant
ObservationOBX
   identifierOBX.21 For OBX segments from systems without OBX-21 support a combination of ORC/OBR and OBX must be negotiated between trading partners to uniquely identify the OBX segment. Depending on how V2 has been implemented each of these may be an option: 1) OBR-3 + OBX-3 + OBX-4 or 2) OBR-3 + OBR-4 + OBX-3 + OBX-4 or 2) some other way to uniquely ID the OBR/ORC + OBX-3 + OBX-4.
   basedOnORC
   partOfVaries by domain
   statusOBX-11
   category
   category (labCategory)
      codingC*E.1-8, C*E.10-22
      textC*E.9. But note many systems use C*E.2 for this
   codeOBX-3
   subjectPID-3
   focusOBX-3
   encounterPV1
   effective[x]OBX-14, and/or OBX-19 after v2.4 (depends on who observation made)
   issuedOBR.22 (or MSH.7), or perhaps OBX-19 (depends on who observation made)
   performerOBX.15 / (Practitioner) OBX-16, PRT-5:PRT-4='RO' / (Device) OBX-18 , PRT-10:PRT-4='EQUIP' / (Organization) OBX-23, PRT-8:PRT-4='PO'
   value[x]OBX.2, OBX.5, OBX.6
   value[x] (valueCodeableConcept)OBX.2, OBX.5, OBX.6
   dataAbsentReasonN/A
   interpretationOBX-8
   noteN/A
   bodySiteOBX-20
   methodOBX-17
   specimenSPM segment
   deviceOBX-17 / PRT -10
   referenceRangeOBX.7
      lowOBX-7
      highOBX-7
      typeOBX-10
      appliesToOBX-10
      textOBX-7
   hasMemberRelationships established by OBX-4 usage
   derivedFromRelationships established by OBX-4 usage
   componentcontainment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (conclusion-string)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (gene-studied)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (cytogenetic-location)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (reference-sequence-assembly)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (coding-hgvs)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (genomic-hgvs)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (cytogenomic-nomenclature)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (genomic-ref-seq)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (transcript-ref-seq)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (exact-start-end)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (inner-start-end)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (outer-start-end)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (coordinate-system)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (ref-allele)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (alt-allele)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (coding-change-type)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (genomic-source-class)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (sample-allelic-frequency)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
         valueSN.2 / CQ - N/A
         comparatorSN.1 / CQ.1
         unit(see OBX.6 etc.) / CQ.2
         system(see OBX.6 etc.) / CQ.2
         code(see OBX.6 etc.) / CQ.2
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (allelic-read-depth)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (allelic-state)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (variant-inheritance)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (variation-code)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (chromosome-identifier)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (protein-hgvs)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (amino-acid-change-type)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (molecular-consequence)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (copy-number)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7
   component (variant-confidence-status)containment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      interpretationOBX-8
      referenceRangeOBX.7

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

Variant
ObservationEntity. Role, or Act, Observation[classCode=OBS, moodCode=EVN]
   textAct.text?
   containedN/A
   modifierExtensionN/A
   identifierid
   basedOn.inboundRelationship[typeCode=COMP].source[moodCode=EVN]
   partOf.outboundRelationship[typeCode=FLFS].target
   statusstatus Amended & Final are differentiated by whether it is the subject of a ControlAct event with a type of "revise"
   category.outboundRelationship[typeCode="COMP].target[classCode="LIST", moodCode="EVN"].code
   category (labCategory).outboundRelationship[typeCode="COMP].target[classCode="LIST", moodCode="EVN"].code
      idn/a
      extensionn/a
      codingunion(., ./translation)
      text./originalText[mediaType/code="text/plain"]/data
   codecode
   subjectparticipation[typeCode=RTGT]
   focusparticipation[typeCode=SBJ]
   encounterinboundRelationship[typeCode=COMP].source[classCode=ENC, moodCode=EVN]
   effective[x]effectiveTime
   issuedparticipation[typeCode=AUT].time
   performerparticipation[typeCode=PRF]
   value[x]value
   value[x] (valueCodeableConcept)value
   dataAbsentReasonvalue.nullFlavor
   interpretationinterpretationCode
   noten/a, Act
   bodySitetargetSiteCode
   methodmethodCode
   specimenparticipation[typeCode=SPC].specimen
   deviceparticipation[typeCode=DEV]
   referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
      idn/a
      extensionn/a
      modifierExtensionN/A
      lowvalue:IVL_PQ.low
      highvalue:IVL_PQ.high
      typeinterpretationCode
      appliesTointerpretationCode
      ageoutboundRelationship[typeCode=PRCN].targetObservationCriterion[code="age"].value
      textvalue:ST
   hasMemberoutBoundRelationship
   derivedFrom.targetObservation
   componentoutBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (conclusion-string)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (gene-studied)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (cytogenetic-location)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (reference-sequence-assembly)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (coding-hgvs)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (genomic-hgvs)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (cytogenomic-nomenclature)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (genomic-ref-seq)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (transcript-ref-seq)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (exact-start-end)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (inner-start-end)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (outer-start-end)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (coordinate-system)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (ref-allele)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (alt-allele)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (coding-change-type)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (genomic-source-class)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (sample-allelic-frequency)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
         idn/a
         extensionn/a
         valuePQ.value, CO.value, MO.value, IVL.high or IVL.low depending on the value
         comparatorIVL properties
         unitPQ.unit
         systemCO.codeSystem, PQ.translation.codeSystem
         codePQ.code, MO.currency, PQ.translation.code
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (allelic-read-depth)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (allelic-state)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (variant-inheritance)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (variation-code)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (chromosome-identifier)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (protein-hgvs)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (amino-acid-change-type)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (molecular-consequence)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (copy-number)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (variant-confidence-status)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      interpretationinterpretationCode
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]

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

Variant
Observation
   identifierFiveWs.identifier
   statusFiveWs.status
   categoryFiveWs.class
   category (labCategory)FiveWs.class
   codeFiveWs.what[x]
   subjectFiveWs.subject[x], FiveWs.subject
   focusFiveWs.subject[x], FiveWs.subject
   encounterFiveWs.context
   effective[x]FiveWs.done[x]
   issuedFiveWs.recorded
   performerFiveWs.actor
   component
      codeFiveWs.what[x]
   component (conclusion-string)
      codeFiveWs.what[x]
   component (gene-studied)
      codeFiveWs.what[x]
   component (cytogenetic-location)
      codeFiveWs.what[x]
   component (reference-sequence-assembly)
      codeFiveWs.what[x]
   component (coding-hgvs)
      codeFiveWs.what[x]
   component (genomic-hgvs)
      codeFiveWs.what[x]
   component (cytogenomic-nomenclature)
      codeFiveWs.what[x]
   component (genomic-ref-seq)
      codeFiveWs.what[x]
   component (transcript-ref-seq)
      codeFiveWs.what[x]
   component (exact-start-end)
      codeFiveWs.what[x]
   component (inner-start-end)
      codeFiveWs.what[x]
   component (outer-start-end)
      codeFiveWs.what[x]
   component (coordinate-system)
      codeFiveWs.what[x]
   component (ref-allele)
      codeFiveWs.what[x]
   component (alt-allele)
      codeFiveWs.what[x]
   component (coding-change-type)
      codeFiveWs.what[x]
   component (genomic-source-class)
      codeFiveWs.what[x]
   component (sample-allelic-frequency)
      codeFiveWs.what[x]
   component (allelic-read-depth)
      codeFiveWs.what[x]
   component (allelic-state)
      codeFiveWs.what[x]
   component (variant-inheritance)
      codeFiveWs.what[x]
   component (variation-code)
      codeFiveWs.what[x]
   component (chromosome-identifier)
      codeFiveWs.what[x]
   component (protein-hgvs)
      codeFiveWs.what[x]
   component (amino-acid-change-type)
      codeFiveWs.what[x]
   component (molecular-consequence)
      codeFiveWs.what[x]
   component (copy-number)
      codeFiveWs.what[x]
   component (variant-confidence-status)
      codeFiveWs.what[x]

Mappings for SNOMED CT Attribute Binding (http://snomed.org/attributebinding)

Variant
Observation
   code116680003 |Is a|
   value[x]363714003 |Interprets|
   value[x] (valueCodeableConcept)363714003 |Interprets|
   interpretation363713009 |Has interpretation|
   bodySite718497002 |Inherent location|
   specimen704319004 |Inherent in|
   device424226004 |Using device|
   component
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (conclusion-string)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (gene-studied)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (cytogenetic-location)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (reference-sequence-assembly)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (coding-hgvs)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (genomic-hgvs)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (cytogenomic-nomenclature)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (genomic-ref-seq)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (transcript-ref-seq)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (exact-start-end)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (inner-start-end)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (outer-start-end)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (coordinate-system)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (ref-allele)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (alt-allele)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (coding-change-type)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (genomic-source-class)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (sample-allelic-frequency)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (allelic-read-depth)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (allelic-state)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (variant-inheritance)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (variation-code)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (chromosome-identifier)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (protein-hgvs)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (amino-acid-change-type)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (molecular-consequence)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (copy-number)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|
   component (variant-confidence-status)
      value[x]363714003 |Interprets|
      interpretation363713009 |Has interpretation|