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Resource Profile: GenomicVariant - Mappings

Draft as of 2023-10-25

Maturity Level: 1

Mappings for the mcode-genomic-variant resource profile.

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

GenomicVariant
Observation	Event
identifier	Event.identifier
basedOn	Event.basedOn
partOf	Event.partOf
status	Event.status
code	Event.code
subject	Event.subject
encounter	Event.context
effective[x]	Event.occurrence[x]
effective[x] (effectiveDateTime)	Event.occurrence[x]
performer	Event.performer.actor

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

GenomicVariant
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)

GenomicVariant
Observation	OBX
identifier	OBX.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.
basedOn	ORC
partOf	Varies by domain
status	OBX-11
category
category (labCategory)
coding	C*E.1-8, C*E.10-22
text	C*E.9. But note many systems use C*E.2 for this
code	OBX-3
subject	PID-3
focus	OBX-3
encounter	PV1
effective[x]	OBX-14, and/or OBX-19 after v2.4 (depends on who observation made)
effective[x] (effectiveDateTime)	OBX-14, and/or OBX-19 after v2.4 (depends on who observation made)
issued	OBR.22 (or MSH.7), or perhaps OBX-19 (depends on who observation made)
performer	OBX.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
dataAbsentReason	N/A
interpretation	OBX-8
note	N/A
bodySite	OBX-20
method	OBX-17
specimen	SPM segment
device	OBX-17 / PRT -10
referenceRange	OBX.7
low	OBX-7
high	OBX-7
type	OBX-10
appliesTo	OBX-10
text	OBX-7
hasMember	Relationships established by OBX-4 usage
derivedFrom	Relationships established by OBX-4 usage
component	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (conclusion-string)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (gene-studied)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (cytogenetic-location)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (reference-sequence-assembly)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (coding-hgvs)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (genomic-hgvs)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (cytogenomic-nomenclature)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (genomic-ref-seq)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (transcript-ref-seq)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (exact-start-end)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (inner-start-end)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (outer-start-end)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (coordinate-system)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (ref-allele)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (alt-allele)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (coding-change-type)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (genomic-source-class)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (sample-allelic-frequency)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
value	SN.2 / CQ - N/A
comparator	SN.1 / CQ.1
unit	(see OBX.6 etc.) / CQ.2
system	(see OBX.6 etc.) / CQ.2
code	(see OBX.6 etc.) / CQ.2
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (allelic-read-depth)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (allelic-state)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (variant-inheritance)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (variation-code)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (chromosome-identifier)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (protein-hgvs)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (amino-acid-change-type)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (molecular-consequence)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (copy-number)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7
component (variant-confidence-status)	containment by OBX-4?
code	OBX-3
value[x]	OBX.2, OBX.5, OBX.6
dataAbsentReason	N/A
interpretation	OBX-8
referenceRange	OBX.7

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

GenomicVariant
Observation	Entity. Role, or Act, Observation[classCode=OBS, moodCode=EVN]
text	Act.text?
contained	N/A
modifierExtension	N/A
identifier	id
basedOn	.inboundRelationship[typeCode=COMP].source[moodCode=EVN]
partOf	.outboundRelationship[typeCode=FLFS].target
status	status 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
id	n/a
extension	n/a
coding	union(., ./translation)
text	./originalText[mediaType/code="text/plain"]/data
code	code
subject	participation[typeCode=RTGT]
focus	participation[typeCode=SBJ]
encounter	inboundRelationship[typeCode=COMP].source[classCode=ENC, moodCode=EVN]
effective[x]	effectiveTime
effective[x] (effectiveDateTime)	effectiveTime
issued	participation[typeCode=AUT].time
performer	participation[typeCode=PRF]
value[x]	value
value[x] (valueCodeableConcept)	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
note	n/a, Act
bodySite	targetSiteCode
method	methodCode
specimen	participation[typeCode=SPC].specimen
device	participation[typeCode=DEV]
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
id	n/a
extension	n/a
modifierExtension	N/A
low	value:IVL_PQ.low
high	value:IVL_PQ.high
type	interpretationCode
appliesTo	interpretationCode
age	outboundRelationship[typeCode=PRCN].targetObservationCriterion[code="age"].value
text	value:ST
hasMember	outBoundRelationship
derivedFrom	.targetObservation
component	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (conclusion-string)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (gene-studied)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (cytogenetic-location)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (reference-sequence-assembly)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (coding-hgvs)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (genomic-hgvs)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (cytogenomic-nomenclature)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (genomic-ref-seq)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (transcript-ref-seq)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (exact-start-end)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (inner-start-end)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (outer-start-end)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (coordinate-system)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (ref-allele)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (alt-allele)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (coding-change-type)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (genomic-source-class)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (sample-allelic-frequency)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
id	n/a
extension	n/a
value	PQ.value, CO.value, MO.value, IVL.high or IVL.low depending on the value
comparator	IVL properties
unit	PQ.unit
system	CO.codeSystem, PQ.translation.codeSystem
code	PQ.code, MO.currency, PQ.translation.code
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (allelic-read-depth)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (allelic-state)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (variant-inheritance)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (variation-code)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (chromosome-identifier)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (protein-hgvs)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (amino-acid-change-type)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (molecular-consequence)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (copy-number)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]
component (variant-confidence-status)	outBoundRelationship[typeCode=COMP]
id	n/a
extension	n/a
modifierExtension	N/A
code	code
value[x]	value
dataAbsentReason	value.nullFlavor
interpretation	interpretationCode
referenceRange	outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]

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

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

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

GenomicVariant
Observation
code	116680003 |Is a|
value[x]	363714003 |Interprets|
value[x] (valueCodeableConcept)	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
bodySite	718497002 |Inherent location|
specimen	704319004 |Inherent in|
device	424226004 |Using device|
component
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (conclusion-string)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (gene-studied)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (cytogenetic-location)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (reference-sequence-assembly)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (coding-hgvs)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (genomic-hgvs)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (cytogenomic-nomenclature)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (genomic-ref-seq)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (transcript-ref-seq)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (exact-start-end)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (inner-start-end)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (outer-start-end)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (coordinate-system)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (ref-allele)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (alt-allele)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (coding-change-type)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (genomic-source-class)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (sample-allelic-frequency)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (allelic-read-depth)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (allelic-state)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (variant-inheritance)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (variation-code)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (chromosome-identifier)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (protein-hgvs)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (amino-acid-change-type)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (molecular-consequence)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (copy-number)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|
component (variant-confidence-status)
value[x]	363714003 |Interprets|
interpretation	363713009 |Has interpretation|