This page is part of the Genetic Reporting Implementation Guide (v0.3.0: STU 1 Ballot 2) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

StructureDefinition: Haplotype - Mappings

Mappings for the Profile.

Mappings for V2-CG-Results (http://unknown.org/V2-CG-Results)

Haplotype
Observation
   valueCodeableConceptB.14
   component
   component (gene-studied)
      valueCodeableConceptA.4
   component (cytogenetic-location)
      valueCodeableConceptB.17

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

Haplotype
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)

Haplotype
Observation< 363787002 |Observable entity|
   status< 445584004 |Report by finality status|
   code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
   valueCodeableConcept< 441742003 |Evaluation finding|
   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|
   component (gene-studied)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      valueCodeableConcept363714003 |Interprets| < 441742003 |Evaluation finding|
   component (cytogenetic-location)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      valueCodeableConcept363714003 |Interprets| < 441742003 |Evaluation finding|
   component (ref-sequence-assembly)
      code< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
      valueCodeableConcept363714003 |Interprets| < 441742003 |Evaluation finding|

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

Haplotype
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
   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'
   valueCodeableConceptOBX.2, OBX.5, OBX.6
   dataAbsentReasonN/A
   noteNTE.3 (partner NTE to OBX, or sometimes another (child?) OBX)
   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
   derivedFrom (mustsupport-derivations)Relationships established by OBX-4 usage
   componentcontainment by OBX-4?
      codeOBX-3
      value[x]OBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      referenceRangeOBX.7
   component (gene-studied)containment by OBX-4?
      codeOBX-3
      valueCodeableConceptOBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      referenceRangeOBX.7
   component (cytogenetic-location)containment by OBX-4?
      codeOBX-3
      valueCodeableConceptOBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      referenceRangeOBX.7
   component (ref-sequence-assembly)containment by OBX-4?
      codeOBX-3
      valueCodeableConceptOBX.2, OBX.5, OBX.6
      dataAbsentReasonN/A
      referenceRangeOBX.7

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

Haplotype
ObservationEntity. Role, or Act
   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
   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]
   valueCodeableConceptvalue
   dataAbsentReasonvalue.nullFlavor
   notesubjectOf.observationEvent[code="annotation"].value
   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
   derivedFrom (mustsupport-derivations).targetObservation
   componentoutBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      value[x]value
      dataAbsentReasonvalue.nullFlavor
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (gene-studied)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      valueCodeableConceptvalue
      dataAbsentReasonvalue.nullFlavor
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (cytogenetic-location)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      valueCodeableConceptvalue
      dataAbsentReasonvalue.nullFlavor
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
   component (ref-sequence-assembly)outBoundRelationship[typeCode=COMP]
      idn/a
      extensionn/a
      modifierExtensionN/A
      codecode
      valueCodeableConceptvalue
      dataAbsentReasonvalue.nullFlavor
      referenceRangeoutboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]

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

Haplotype
Observation
   identifierFiveWs.identifier
   statusFiveWs.status
   categoryFiveWs.class
   codeFiveWs.what[x]
   subjectFiveWs.subject[x]
   focusFiveWs.subject[x]
   encounterFiveWs.context
   effective[x]FiveWs.done[x]
   issuedFiveWs.recorded
   performerFiveWs.actor
   component
      codeFiveWs.what[x]
   component (gene-studied)
      codeFiveWs.what[x]
   component (cytogenetic-location)
      codeFiveWs.what[x]
   component (ref-sequence-assembly)
      codeFiveWs.what[x]

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

Haplotype
Observation
   code116680003 |Is a|
   valueCodeableConcept363714003 |Interprets|
   bodySite718497002 |Inherent location|
   specimen704319004 |Inherent in|
   device424226004 |Using device|
   component
      value[x]363714003 |Interprets|
   component (gene-studied)
      valueCodeableConcept363714003 |Interprets|
   component (cytogenetic-location)
      valueCodeableConcept363714003 |Interprets|
   component (ref-sequence-assembly)
      valueCodeableConcept363714003 |Interprets|