Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build
Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build
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
| Page standards status: Trial-use | Maturity Level: 2 |
Mappings for the genomic-annotation resource profile.
No Mappings Found
No Mappings Found
| Name | Workflow Pattern | SNOMED CT Concept Domain Binding | HL7 v2 Mapping | RIM Mapping | FiveWs Pattern Mapping | SNOMED CT Attribute Binding |
|---|---|---|---|---|---|---|
  Observation |
Event |
< 363787002 |Observable entity| |
OBX |
|
||
  id |
||||||
 meta |
||||||
| implicitRules |
||||||
| language |
||||||
| text |
Act.text? |
|||||
| contained |
N/A |
|||||
  Slices for extension |
||||||
   extension:secondary-finding |
||||||
| extension:body-structure |
||||||
 extension:workflow-relatedArtifact |
||||||
 modifierExtension |
N/A |
|||||
| 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 |
||
 basedOn |
Event.basedOn |
ORC |
.inboundRelationship[typeCode=COMP].source[moodCode=EVN] |
|||
| partOf |
Event.partOf |
Varies by domain |
.outboundRelationship[typeCode=FLFS].target |
|||
| 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 |
|
 Slices for category |
|
FiveWs.class |
||||
 category:labCategory |
|
FiveWs.class |
||||
  id |
n/a |
|||||
| extension |
n/a |
|||||
| coding |
|
|
||||
 text |
C*E.9. But note many systems use C*E.2 for this |
./originalText[mediaType/code="text/plain"]/data |
||||
 category:geCategory |
|
FiveWs.class |
||||
 id |
n/a |
|||||
| extension |
n/a |
|||||
| coding |
|
|
||||
| text |
C*E.9. But note many systems use C*E.2 for this |
./originalText[mediaType/code="text/plain"]/data |
||||
| code |
Event.code |
< 363787002 |Observable entity| OR < 386053000 |Evaluation procedure| |
OBX-3 |
code |
FiveWs.what[x] |
116680003 |Is a| |
| subject |
Event.subject |
PID-3 |
participation[typeCode=RTGT] |
FiveWs.subject |
||
| focus |
OBX-3 |
participation[typeCode=SBJ] |
FiveWs.subject |
|||
| encounter |
Event.context |
PV1 |
|
FiveWs.context |
||
 effective[x] |
Event.occurrence[x] |
|
effectiveTime |
FiveWs.done[x] |
||
| issued |
|
participation[typeCode=AUT].time |
FiveWs.recorded |
|||
| performer |
Event.performer.actor |
|
participation[typeCode=PRF] |
FiveWs.actor |
||
| value[x] |
< 441742003 |Evaluation finding| |
|
value |
363714003 |Interprets| | ||
| dataAbsentReason |
N/A |
value.nullFlavor |
||||
| interpretation |
< 260245000 |Findings values| |
OBX-8 |
interpretationCode |
363713009 |Has interpretation| | ||
| note |
|
subjectOf.observationEvent[code="annotation"].value |
||||
| bodySite |
< 123037004 |Body structure| |
OBX-20 |
targetSiteCode |
718497002 |Inherent location| | ||
| method |
OBX-17 |
methodCode |
||||
| specimen |
< 123038009 |Specimen| |
SPM segment |
participation[typeCode=SPC].specimen |
704319004 |Inherent in| | ||
| device |
< 49062001 |Device| |
OBX-17 / PRT -10 |
participation[typeCode=DEV] |
424226004 |Using device| | ||
| referenceRange |
OBX.7 |
|
||||
| id |
n/a |
|||||
| extension |
n/a |
|||||
| modifierExtension |
N/A |
|||||
| low |
OBX-7 |
IVL_PQ.low |
||||
| high |
OBX-7 |
IVL_PQ.high |
||||
| 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 |
|||
| 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 |
|||
| age |
outboundRelationship[typeCode=PRCN].targetObservationCriterion[code="age"].value |
|||||
 text |
OBX-7 |
ST |
||||
| hasMember |
Relationships established by OBX-4 usage |
outBoundRelationship |
||||
| Slices for derivedFrom |
Relationships established by OBX-4 usage |
.targetObservation |
||||
| derivedFrom:variant |
Relationships established by OBX-4 usage |
.targetObservation |
||||
| derivedFrom:genotype |
Relationships established by OBX-4 usage |
.targetObservation |
||||
| derivedFrom:haplotype |
Relationships established by OBX-4 usage |
.targetObservation |
||||
| derivedFrom:biomarker |
Relationships established by OBX-4 usage |
.targetObservation |
||||
 Slices for component |
containment by OBX-4? |
outBoundRelationship[typeCode=COMP] |
||||
 component:All Slices |
||||||
| id |
n/a |
|||||
| Slices for extension |
||||||
| extension:workflow-relatedArtifact |
||||||
| extension:knowledgebase-ancestry-group |
||||||
| modifierExtension |
N/A |
|||||
| code |
< 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
OBX-3 |
code |
FiveWs.what[x] |
||
| value[x] |
363714003 |Interprets| < 441742003 |Evaluation finding| |
|
value |
363714003 |Interprets| | ||
| dataAbsentReason |
N/A |
value.nullFlavor |
||||
| interpretation |
< 260245000 |Findings values| |
OBX-8 |
interpretationCode |
363713009 |Has interpretation| | ||
| referenceRange |
OBX.7 |
|
||||
| component:conclusion-string |
containment by OBX-4? |
outBoundRelationship[typeCode=COMP] |
||||
| id |
n/a |
|||||
| extension |
n/a |
|||||
| modifierExtension |
N/A |
|||||
| code |
< 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
OBX-3 |
code |
FiveWs.what[x] |
||
| value[x] |
363714003 |Interprets| < 441742003 |Evaluation finding| |
|
value |
363714003 |Interprets| | ||
| dataAbsentReason |
N/A |
value.nullFlavor |
||||
| interpretation |
< 260245000 |Findings values| |
OBX-8 |
interpretationCode |
363713009 |Has interpretation| | ||
| referenceRange |
OBX.7 |
|
||||
| component:evidence-level |
containment by OBX-4? |
outBoundRelationship[typeCode=COMP] |
||||
| id |
n/a |
|||||
| Slices for extension |
||||||
 Slices for extension |
||||||
 extension:workflow-relatedArtifact |
||||||
| modifierExtension |
N/A |
|||||
| code |
< 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
OBX-3 |
code |
FiveWs.what[x] |
||
| value[x] |
363714003 |Interprets| < 441742003 |Evaluation finding| |
|
value |
363714003 |Interprets| | ||
| dataAbsentReason |
N/A |
value.nullFlavor |
||||
| interpretation |
< 260245000 |Findings values| |
OBX-8 |
interpretationCode |
363713009 |Has interpretation| | ||
| referenceRange |
OBX.7 |
|
||||
| component:clinical-significance |
containment by OBX-4? |
outBoundRelationship[typeCode=COMP] |
||||
| id |
n/a |
|||||
| Slices for extension |
||||||
| Slices for extension |
||||||
| extension:workflow-relatedArtifact |
||||||
| modifierExtension |
N/A |
|||||
| code |
< 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
OBX-3 |
code |
FiveWs.what[x] |
||
| value[x] |
363714003 |Interprets| < 441742003 |Evaluation finding| |
|
value |
363714003 |Interprets| | ||
| dataAbsentReason |
N/A |
value.nullFlavor |
||||
| interpretation |
< 260245000 |Findings values| |
OBX-8 |
interpretationCode |
363713009 |Has interpretation| | ||
| referenceRange |
OBX.7 |
|
||||
| component:knowledge-base |
containment by OBX-4? |
outBoundRelationship[typeCode=COMP] |
||||
| id |
n/a |
|||||
| Slices for extension |
||||||
| Slices for extension |
||||||
| extension:workflow-relatedArtifact |
||||||
| modifierExtension |
N/A |
|||||
| code |
< 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
OBX-3 |
code |
FiveWs.what[x] |
||
| value[x] |
363714003 |Interprets| < 441742003 |Evaluation finding| |
|
value |
363714003 |Interprets| | ||
| dataAbsentReason |
N/A |
value.nullFlavor |
||||
| interpretation |
< 260245000 |Findings values| |
OBX-8 |
interpretationCode |
363713009 |Has interpretation| | ||
| referenceRange |
OBX.7 |
|
||||
| component:annotation-pipeline |
containment by OBX-4? |
outBoundRelationship[typeCode=COMP] |
||||
| id |
n/a |
|||||
| Slices for extension |
||||||
| Slices for extension |
||||||
| extension:workflow-relatedArtifact |
||||||
| modifierExtension |
N/A |
|||||
| code |
< 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
OBX-3 |
code |
FiveWs.what[x] |
||
| value[x] |
363714003 |Interprets| < 441742003 |Evaluation finding| |
|
value |
363714003 |Interprets| | ||
| dataAbsentReason |
N/A |
value.nullFlavor |
||||
| interpretation |
< 260245000 |Findings values| |
OBX-8 |
interpretationCode |
363713009 |Has interpretation| | ||
| referenceRange |
OBX.7 |
|
||||
| component:population-allele-frequency |
containment by OBX-4? |
outBoundRelationship[typeCode=COMP] |
||||
| id |
n/a |
|||||
| Slices for extension |
||||||
| Slices for extension |
||||||
| extension:knowledgebase-ancestry-group |
||||||
| modifierExtension |
N/A |
|||||
| code |
< 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
OBX-3 |
code |
FiveWs.what[x] |
||
| value[x] |
363714003 |Interprets| < 441742003 |Evaluation finding| |
|
value |
363714003 |Interprets| | ||
| dataAbsentReason |
N/A |
value.nullFlavor |
||||
| interpretation |
< 260245000 |Findings values| |
OBX-8 |
interpretationCode |
363713009 |Has interpretation| | ||
| referenceRange |
OBX.7 |
|
||||
| component:conservation-score |
containment by OBX-4? |
outBoundRelationship[typeCode=COMP] |
||||
| id |
n/a |
|||||
| Slices for extension |
||||||
| Slices for extension |
||||||
| extension:knowledgebase-ancestry-group |
||||||
| modifierExtension |
N/A |
|||||
| code |
< 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
OBX-3 |
code |
FiveWs.what[x] |
||
| value[x] |
363714003 |Interprets| < 441742003 |Evaluation finding| |
|
value |
363714003 |Interprets| | ||
| dataAbsentReason |
N/A |
value.nullFlavor |
||||
| interpretation |
< 260245000 |Findings values| |
OBX-8 |
interpretationCode |
363713009 |Has interpretation| | ||
| referenceRange |
OBX.7 |
|
||||
| Documentation for this format | ||||||
IG © 2025+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#4.0.0-cibuild based on FHIR 4.0.1. Generated 2026-11-02
Links: Table of Contents |
QA Report
| Version History |
|
Propose a change