Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 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
Mappings for the variant resource profile.
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 (chromosome-identifier) | |
code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
interpretation | < 260245000 |Findings values| |
component (representative-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 (representative-protein-ref-seq) | |
code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
interpretation | < 260245000 |Findings values| |
component (representative-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 (variant-inheritance-basis) | |
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 (representative-protein-hgvs) | |
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| |
component (repeat-motif) | |
code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
interpretation | < 260245000 |Findings values| |
component (repeat-number) | |
code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
interpretation | < 260245000 |Findings values| |
Variant |
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 |
category (geCategory) | |
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) |
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 (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 (representative-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 (representative-protein-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 (representative-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 (variant-inheritance-basis) | 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 (representative-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 (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 |
component (repeat-motif) | 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 (repeat-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 |
Variant |
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 |
category (geCategory) | .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 |
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 (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 (representative-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 (representative-protein-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 (representative-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 (variant-inheritance-basis) | 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 (representative-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 (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] |
component (repeat-motif) | outBoundRelationship[typeCode=COMP] |
id | 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 (repeat-number) | outBoundRelationship[typeCode=COMP] |
id | n/a |
modifierExtension | N/A |
code | code |
value[x] | value |
dataAbsentReason | value.nullFlavor |
interpretation | interpretationCode |
referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
Variant |
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 (chromosome-identifier) | |
value[x] | 363714003 |Interprets| |
interpretation | 363713009 |Has interpretation| |
component (representative-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 (representative-protein-ref-seq) | |
value[x] | 363714003 |Interprets| |
interpretation | 363713009 |Has interpretation| |
component (representative-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 (variant-inheritance-basis) | |
value[x] | 363714003 |Interprets| |
interpretation | 363713009 |Has interpretation| |
component (variation-code) | |
value[x] | 363714003 |Interprets| |
interpretation | 363713009 |Has interpretation| |
component (representative-protein-hgvs) | |
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| |
component (repeat-motif) | |
value[x] | 363714003 |Interprets| |
interpretation | 363713009 |Has interpretation| |
component (repeat-number) | |
value[x] | 363714003 |Interprets| |
interpretation | 363713009 |Has interpretation| |