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

Resource Profile: Variant - Mappings

Page standards status: Trial-use Maturity Level: 2

Mappings for the variant resource profile.

Mappings to Structures in this Implementation Guide

No Mappings Found

Mappings to other Structures

No Mappings Found

Other Mappings

NameWorkflow PatternSNOMED CT Concept Domain BindingHL7 v2 MappingRIM MappingFiveWs Pattern MappingSNOMED CT Attribute Bindingdoco
Observation
Event
< 363787002 |Observable entity|
OBX
  • Observation[classCode=OBS
  • moodCode=EVN]
Observation / id
Observation / meta
Observation / implicitRules
Observation / language
Observation / text
Act.text?
Observation / contained
N/A
Observation / Slices for extension
Observation / Slices for extension / extension:secondary-finding
Observation / Slices for extension / extension:body-structure
Observation / modifierExtension
N/A
Observation / identifier
Event.identifier
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.
id
FiveWs.identifier
Observation / basedOn
Event.basedOn
ORC
.inboundRelationship[typeCode=COMP].source[moodCode=EVN]
Observation / partOf
Event.partOf
Varies by domain
.outboundRelationship[typeCode=FLFS].target
Observation / status
Event.status
< 445584004 |Report by finality status|
OBX-11
status Amended & Final are differentiated by whether it is the subject of a ControlAct event with a type of "revise"
FiveWs.status
Observation / Slices for category
  • .outboundRelationship[typeCode="COMP].target[classCode="LIST"
  • moodCode="EVN"].code
FiveWs.class
Observation / Slices for category / category:labCategory
  • .outboundRelationship[typeCode="COMP].target[classCode="LIST"
  • moodCode="EVN"].code
FiveWs.class
Observation / Slices for category / category:labCategory / id
n/a
Observation / Slices for category / category:labCategory / extension
n/a
Observation / Slices for category / category:labCategory / coding
  • C*E.1-8
  • C*E.10-22
  • union(.
  • ./translation)
Observation / Slices for category / category:labCategory / text
C*E.9. But note many systems use C*E.2 for this
./originalText[mediaType/code="text/plain"]/data
Observation / Slices for category / category:geCategory
  • .outboundRelationship[typeCode="COMP].target[classCode="LIST"
  • moodCode="EVN"].code
FiveWs.class
Observation / Slices for category / category:geCategory / id
n/a
Observation / Slices for category / category:geCategory / extension
n/a
Observation / Slices for category / category:geCategory / coding
  • C*E.1-8
  • C*E.10-22
  • union(.
  • ./translation)
Observation / Slices for category / category:geCategory / text
C*E.9. But note many systems use C*E.2 for this
./originalText[mediaType/code="text/plain"]/data
Observation / code
Event.code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
116680003 |Is a|
Observation / subject
Event.subject
PID-3
participation[typeCode=RTGT]
FiveWs.subject
Observation / focus
OBX-3
participation[typeCode=SBJ]
FiveWs.subject
Observation / encounter
Event.context
PV1
  • inboundRelationship[typeCode=COMP].source[classCode=ENC
  • moodCode=EVN]
FiveWs.context
Observation / effective[x]
Event.occurrence[x]
  • OBX-14
  • and/or OBX-19 after v2.4 (depends on who observation made)
effectiveTime
FiveWs.done[x]
Observation / issued
  • OBR.22 (or MSH.7)
  • or perhaps OBX-19 (depends on who observation made)
participation[typeCode=AUT].time
FiveWs.recorded
Observation / performer
Event.performer.actor
  • OBX.15 / (Practitioner) OBX-16
  • PRT-4='RO' / (Device) OBX-18
  • PRT-4='EQUIP' / (Organization) OBX-23
  • PRT-4='PO'
participation[typeCode=PRF]
FiveWs.actor
Observation / Slices for value[x]
< 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for value[x] / value[x]:valueCodeableConcept
< 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / dataAbsentReason
N/A
value.nullFlavor
Observation / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / note
  • NTE.3 (partner NTE to OBX
  • or sometimes another (child?) OBX)
subjectOf.observationEvent[code="annotation"].value
Observation / bodySite
< 123037004 |Body structure|
OBX-20
targetSiteCode
718497002 |Inherent location|
Observation / method
OBX-17
methodCode
Observation / specimen
< 123038009 |Specimen|
SPM segment
participation[typeCode=SPC].specimen
704319004 |Inherent in|
Observation / device
< 49062001 |Device|
OBX-17 / PRT -10
participation[typeCode=DEV]
424226004 |Using device|
Observation / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / referenceRange / id
n/a
Observation / referenceRange / extension
n/a
Observation / referenceRange / modifierExtension
N/A
Observation / referenceRange / low
OBX-7
IVL_PQ.low
Observation / referenceRange / high
OBX-7
IVL_PQ.high
Observation / 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|
OBX-10
interpretationCode
Observation / referenceRange / 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|
OBX-10
interpretationCode
Observation / referenceRange / age
outboundRelationship[typeCode=PRCN].targetObservationCriterion[code="age"].value
Observation / referenceRange / text
OBX-7
ST
Observation / hasMember
Relationships established by OBX-4 usage
outBoundRelationship
Observation / derivedFrom
Relationships established by OBX-4 usage
.targetObservation
Observation / Slices for component
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:All Slices
Observation / Slices for component / component:All Slices / id
n/a
Observation / Slices for component / component:All Slices / extension
n/a
Observation / Slices for component / component:All Slices / modifierExtension
N/A
Observation / Slices for component / component:All Slices / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:All Slices / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:All Slices / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:All Slices / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:All Slices / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:conclusion-string
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:conclusion-string / id
n/a
Observation / Slices for component / component:conclusion-string / extension
n/a
Observation / Slices for component / component:conclusion-string / modifierExtension
N/A
Observation / Slices for component / component:conclusion-string / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:conclusion-string / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:conclusion-string / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:conclusion-string / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:conclusion-string / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:gene-studied
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:gene-studied / id
n/a
Observation / Slices for component / component:gene-studied / extension
n/a
Observation / Slices for component / component:gene-studied / modifierExtension
N/A
Observation / Slices for component / component:gene-studied / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:gene-studied / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:gene-studied / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:gene-studied / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:gene-studied / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:cytogenetic-location
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:cytogenetic-location / id
n/a
Observation / Slices for component / component:cytogenetic-location / extension
n/a
Observation / Slices for component / component:cytogenetic-location / modifierExtension
N/A
Observation / Slices for component / component:cytogenetic-location / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:cytogenetic-location / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:cytogenetic-location / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:cytogenetic-location / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:cytogenetic-location / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:reference-sequence-assembly
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:reference-sequence-assembly / id
n/a
Observation / Slices for component / component:reference-sequence-assembly / extension
n/a
Observation / Slices for component / component:reference-sequence-assembly / modifierExtension
N/A
Observation / Slices for component / component:reference-sequence-assembly / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:reference-sequence-assembly / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:reference-sequence-assembly / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:reference-sequence-assembly / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:reference-sequence-assembly / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:chromosome-identifier
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:chromosome-identifier / id
n/a
Observation / Slices for component / component:chromosome-identifier / extension
n/a
Observation / Slices for component / component:chromosome-identifier / modifierExtension
N/A
Observation / Slices for component / component:chromosome-identifier / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:chromosome-identifier / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:chromosome-identifier / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:chromosome-identifier / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:chromosome-identifier / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:representative-coding-hgvs
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:representative-coding-hgvs / id
n/a
Observation / Slices for component / component:representative-coding-hgvs / extension
n/a
Observation / Slices for component / component:representative-coding-hgvs / modifierExtension
N/A
Observation / Slices for component / component:representative-coding-hgvs / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:representative-coding-hgvs / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:representative-coding-hgvs / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:representative-coding-hgvs / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:representative-coding-hgvs / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:genomic-hgvs
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:genomic-hgvs / id
n/a
Observation / Slices for component / component:genomic-hgvs / extension
n/a
Observation / Slices for component / component:genomic-hgvs / modifierExtension
N/A
Observation / Slices for component / component:genomic-hgvs / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:genomic-hgvs / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:genomic-hgvs / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:genomic-hgvs / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:genomic-hgvs / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:cytogenomic-nomenclature
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:cytogenomic-nomenclature / id
n/a
Observation / Slices for component / component:cytogenomic-nomenclature / extension
n/a
Observation / Slices for component / component:cytogenomic-nomenclature / modifierExtension
N/A
Observation / Slices for component / component:cytogenomic-nomenclature / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:cytogenomic-nomenclature / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:cytogenomic-nomenclature / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:cytogenomic-nomenclature / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:cytogenomic-nomenclature / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:genomic-ref-seq
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:genomic-ref-seq / id
n/a
Observation / Slices for component / component:genomic-ref-seq / extension
n/a
Observation / Slices for component / component:genomic-ref-seq / modifierExtension
N/A
Observation / Slices for component / component:genomic-ref-seq / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:genomic-ref-seq / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:genomic-ref-seq / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:genomic-ref-seq / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:genomic-ref-seq / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:representative-protein-ref-seq
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:representative-protein-ref-seq / id
n/a
Observation / Slices for component / component:representative-protein-ref-seq / extension
n/a
Observation / Slices for component / component:representative-protein-ref-seq / modifierExtension
N/A
Observation / Slices for component / component:representative-protein-ref-seq / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:representative-protein-ref-seq / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:representative-protein-ref-seq / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:representative-protein-ref-seq / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:representative-protein-ref-seq / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:representative-transcript-ref-seq
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:representative-transcript-ref-seq / id
n/a
Observation / Slices for component / component:representative-transcript-ref-seq / extension
n/a
Observation / Slices for component / component:representative-transcript-ref-seq / modifierExtension
N/A
Observation / Slices for component / component:representative-transcript-ref-seq / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:representative-transcript-ref-seq / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:representative-transcript-ref-seq / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:representative-transcript-ref-seq / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:representative-transcript-ref-seq / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:exact-start-end
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:exact-start-end / id
n/a
Observation / Slices for component / component:exact-start-end / extension
n/a
Observation / Slices for component / component:exact-start-end / modifierExtension
N/A
Observation / Slices for component / component:exact-start-end / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:exact-start-end / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:exact-start-end / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:exact-start-end / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:exact-start-end / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:inner-start-end
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:inner-start-end / id
n/a
Observation / Slices for component / component:inner-start-end / extension
n/a
Observation / Slices for component / component:inner-start-end / modifierExtension
N/A
Observation / Slices for component / component:inner-start-end / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:inner-start-end / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:inner-start-end / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:inner-start-end / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:inner-start-end / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:outer-start-end
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:outer-start-end / id
n/a
Observation / Slices for component / component:outer-start-end / extension
n/a
Observation / Slices for component / component:outer-start-end / modifierExtension
N/A
Observation / Slices for component / component:outer-start-end / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:outer-start-end / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:outer-start-end / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:outer-start-end / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:outer-start-end / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:coordinate-system
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:coordinate-system / id
n/a
Observation / Slices for component / component:coordinate-system / extension
n/a
Observation / Slices for component / component:coordinate-system / modifierExtension
N/A
Observation / Slices for component / component:coordinate-system / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:coordinate-system / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:coordinate-system / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:coordinate-system / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:coordinate-system / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:ref-allele
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:ref-allele / id
n/a
Observation / Slices for component / component:ref-allele / extension
n/a
Observation / Slices for component / component:ref-allele / modifierExtension
N/A
Observation / Slices for component / component:ref-allele / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:ref-allele / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:ref-allele / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:ref-allele / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:ref-allele / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:alt-allele
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:alt-allele / id
n/a
Observation / Slices for component / component:alt-allele / extension
n/a
Observation / Slices for component / component:alt-allele / modifierExtension
N/A
Observation / Slices for component / component:alt-allele / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:alt-allele / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:alt-allele / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:alt-allele / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:alt-allele / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:coding-change-type
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:coding-change-type / id
n/a
Observation / Slices for component / component:coding-change-type / extension
n/a
Observation / Slices for component / component:coding-change-type / modifierExtension
N/A
Observation / Slices for component / component:coding-change-type / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:coding-change-type / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:coding-change-type / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:coding-change-type / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:coding-change-type / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:genomic-source-class
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:genomic-source-class / id
n/a
Observation / Slices for component / component:genomic-source-class / extension
n/a
Observation / Slices for component / component:genomic-source-class / modifierExtension
N/A
Observation / Slices for component / component:genomic-source-class / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:genomic-source-class / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:genomic-source-class / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:genomic-source-class / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:genomic-source-class / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:sample-allelic-frequency
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:sample-allelic-frequency / id
n/a
Observation / Slices for component / component:sample-allelic-frequency / extension
n/a
Observation / Slices for component / component:sample-allelic-frequency / modifierExtension
N/A
Observation / Slices for component / component:sample-allelic-frequency / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:sample-allelic-frequency / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:sample-allelic-frequency / value[x] / id
n/a
Observation / Slices for component / component:sample-allelic-frequency / value[x] / extension
n/a
Observation / Slices for component / component:sample-allelic-frequency / value[x] / value
SN.2 / CQ - N/A
  • PQ.value
  • CO.value
  • MO.value
  • IVL.high or IVL.low depending on the value
Observation / Slices for component / component:sample-allelic-frequency / value[x] / comparator
SN.1 / CQ.1
IVL properties
Observation / Slices for component / component:sample-allelic-frequency / value[x] / unit
(see OBX.6 etc.) / CQ.2
PQ.unit
Observation / Slices for component / component:sample-allelic-frequency / value[x] / system
(see OBX.6 etc.) / CQ.2
  • CO.codeSystem
  • PQ.translation.codeSystem
Observation / Slices for component / component:sample-allelic-frequency / value[x] / code
(see OBX.6 etc.) / CQ.2
  • PQ.code
  • MO.currency
  • PQ.translation.code
Observation / Slices for component / component:sample-allelic-frequency / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:sample-allelic-frequency / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:sample-allelic-frequency / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:allelic-read-depth
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:allelic-read-depth / id
n/a
Observation / Slices for component / component:allelic-read-depth / extension
n/a
Observation / Slices for component / component:allelic-read-depth / modifierExtension
N/A
Observation / Slices for component / component:allelic-read-depth / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:allelic-read-depth / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:allelic-read-depth / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:allelic-read-depth / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:allelic-read-depth / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:allelic-state
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:allelic-state / id
n/a
Observation / Slices for component / component:allelic-state / extension
n/a
Observation / Slices for component / component:allelic-state / modifierExtension
N/A
Observation / Slices for component / component:allelic-state / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:allelic-state / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:allelic-state / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:allelic-state / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:allelic-state / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:variant-inheritance
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:variant-inheritance / id
n/a
Observation / Slices for component / component:variant-inheritance / extension
n/a
Observation / Slices for component / component:variant-inheritance / modifierExtension
N/A
Observation / Slices for component / component:variant-inheritance / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:variant-inheritance / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:variant-inheritance / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:variant-inheritance / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:variant-inheritance / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:variant-inheritance-basis
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:variant-inheritance-basis / id
n/a
Observation / Slices for component / component:variant-inheritance-basis / extension
n/a
Observation / Slices for component / component:variant-inheritance-basis / modifierExtension
N/A
Observation / Slices for component / component:variant-inheritance-basis / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:variant-inheritance-basis / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:variant-inheritance-basis / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:variant-inheritance-basis / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:variant-inheritance-basis / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:variation-code
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:variation-code / id
n/a
Observation / Slices for component / component:variation-code / extension
n/a
Observation / Slices for component / component:variation-code / modifierExtension
N/A
Observation / Slices for component / component:variation-code / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:variation-code / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:variation-code / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:variation-code / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:variation-code / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:representative-protein-hgvs
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:representative-protein-hgvs / id
n/a
Observation / Slices for component / component:representative-protein-hgvs / extension
n/a
Observation / Slices for component / component:representative-protein-hgvs / modifierExtension
N/A
Observation / Slices for component / component:representative-protein-hgvs / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:representative-protein-hgvs / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:representative-protein-hgvs / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:representative-protein-hgvs / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:representative-protein-hgvs / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:copy-number
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:copy-number / id
n/a
Observation / Slices for component / component:copy-number / extension
n/a
Observation / Slices for component / component:copy-number / modifierExtension
N/A
Observation / Slices for component / component:copy-number / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:copy-number / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:copy-number / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:copy-number / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:copy-number / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:variant-confidence-status
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:variant-confidence-status / id
n/a
Observation / Slices for component / component:variant-confidence-status / extension
n/a
Observation / Slices for component / component:variant-confidence-status / modifierExtension
N/A
Observation / Slices for component / component:variant-confidence-status / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:variant-confidence-status / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:variant-confidence-status / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:variant-confidence-status / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:variant-confidence-status / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:repeat-motif
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:repeat-motif / id
n/a
Observation / Slices for component / component:repeat-motif / Slices for extension
Observation / Slices for component / component:repeat-motif / Slices for extension
Observation / Slices for component / component:repeat-motif / Slices for extension / extension:repeat-motif-order
Observation / Slices for component / component:repeat-motif / modifierExtension
N/A
Observation / Slices for component / component:repeat-motif / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:repeat-motif / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:repeat-motif / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:repeat-motif / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:repeat-motif / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]
Observation / Slices for component / component:repeat-number
containment by OBX-4?
outBoundRelationship[typeCode=COMP]
Observation / Slices for component / component:repeat-number / id
n/a
Observation / Slices for component / component:repeat-number / Slices for extension
Observation / Slices for component / component:repeat-number / Slices for extension
Observation / Slices for component / component:repeat-number / Slices for extension / extension:repeat-motif-order
Observation / Slices for component / component:repeat-number / modifierExtension
N/A
Observation / Slices for component / component:repeat-number / code
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure|
OBX-3
code
FiveWs.what[x]
Observation / Slices for component / component:repeat-number / value[x]
363714003 |Interprets| < 441742003 |Evaluation finding|
  • OBX.2
  • OBX.5
  • OBX.6
value
363714003 |Interprets|
Observation / Slices for component / component:repeat-number / dataAbsentReason
N/A
value.nullFlavor
Observation / Slices for component / component:repeat-number / interpretation
< 260245000 |Findings values|
OBX-8
interpretationCode
363713009 |Has interpretation|
Observation / Slices for component / component:repeat-number / referenceRange
OBX.7
  • outboundRelationship[typeCode=REFV]/target[classCode=OBS
  • moodCode=EVN]

doco Documentation for this format