minimal Common Oncology Data Elements (mCODE) Implementation Guide, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/fhir-mCODE-ig/ and changes regularly. See the Directory of published versions
Generated Narrative: Bundle gx-genomic-bundle-adam-anyperson
Bundle gx-genomic-bundle-adam-anyperson of type collection
Entry 1 - fullUrl = http://example.org/fhir/Patient/gx-cancer-patient-adam-anyperson
Resource Patient:
Generated Narrative: Patient gx-cancer-patient-adam-anyperson
Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
Other Id: Patient external identifier/22ea1d1b-03a5-47d6-81e0-b9b4cbb15ccf (use: usual, ) Contact Detail 987 Main St Anytown 12345 US US Core Birth Sex Extension M
Entry 2 - fullUrl = http://example.org/fhir/DiagnosticReport/gx-genomics-report-adam-anyperson
Resource DiagnosticReport:
Generated Narrative: DiagnosticReport gx-genomics-report-adam-anyperson
Genetic analysis report (Genetics)
Subject Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789) When For 2022-02-15 19:28:58+0500 Performer Organization Gensop Labs, Inc. Report Details
Entry 3 - fullUrl = http://example.org/fhir/ServiceRequest/gx-order-tumornormal-gensop-inc
Resource ServiceRequest:
Generated Narrative: ServiceRequest gx-order-tumornormal-gensop-inc
identifier: Filler Identifier/22howe
status: Completed
intent: Order
code: No display for ServiceRequest.code (concept: xT - 648 gene panel)
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
Entry 4 - fullUrl = http://example.org/fhir/Practitioner/gx-practitioner-test-pathologist
Resource Practitioner:
Generated Narrative: Practitioner gx-practitioner-test-pathologist
name: Test Pathologist, MD
Entry 5 - fullUrl = http://example.org/fhir/Specimen/gx-genomic-specimen-tumornormal-tumor
Resource Specimen:
Generated Narrative: Specimen gx-genomic-specimen-tumornormal-tumor
status: Available
type: Tumor
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
receivedTime: 2021-02-09 21:30:50+0500
Collections
Collected[x] BodySite 2021-02-06 17:15:00+0500 No display for Specimen.collection.bodySite (concept: Left lung structure (body structure))
Entry 6 - fullUrl = http://example.org/fhir/Specimen/gx-genomic-specimen-tumornormal-normal
Resource Specimen:
Generated Narrative: Specimen gx-genomic-specimen-tumornormal-normal
status: Available
type: Whole Blood
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
receivedTime: 2021-02-09 21:30:50+0500
Collections
Collected[x] 2021-02-06 17:15:00+0500
Entry 7 - fullUrl = http://example.org/fhir/Observation/gx-genomic-variant-somatic-bap1-indel
Resource Observation:
Generated Narrative: Observation gx-genomic-variant-somatic-bap1-indel
status: Final
category: Laboratory
code: Genetic variant assessment
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
value: Present
method: Sequencing
component
code: Gene studied [ID]
value: BAP1
component
code: Transcript reference sequence [ID]
value: NM_004656.4
component
code: DNA change (c.HGVS)
value: NM_004656.4:c.1768C>T
component
code: Amino acid change (pHGVS)
value: NP_004647.1:p.(Gln590Ter)
component
code: Genomic source class [Type]
value: Somatic
component
code: Sample variant allelic frequency [NFr]
value: 57.4 % (Details: UCUM code% = '%')
component
code: Molecular Consequence
value: stop_gained
component
code: Human reference sequence assembly version
value: GRCh37
Entry 8 - fullUrl = http://example.org/fhir/Observation/gx-genomic-variant-somatic-cdkn2a-cnv
Resource Observation:
Generated Narrative: Observation gx-genomic-variant-somatic-cdkn2a-cnv
status: Final
category: Laboratory
code: Genetic variant assessment
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
value: Present
method: Sequencing
component
code: Gene studied [ID]
value: CDKN2A
component
code: Genomic source class [Type]
value: Somatic
component
code: Molecular Consequence
value: copy_number_loss
component
code: Human reference sequence assembly version
value: GRCh37
Entry 9 - fullUrl = http://example.org/fhir/Observation/gx-genomic-variant-somatic-cdkn2b-cnv
Resource Observation:
Generated Narrative: Observation gx-genomic-variant-somatic-cdkn2b-cnv
status: Final
category: Laboratory
code: Genetic variant assessment
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
value: Present
method: Sequencing
component
code: Gene studied [ID]
value: CDKN2B
component
code: Genomic source class [Type]
value: Somatic
component
code: Molecular Consequence
value: copy_number_loss
component
code: Human reference sequence assembly version
value: GRCh37
Entry 10 - fullUrl = http://example.org/fhir/Observation/gx-genomic-variant-somatic-kdm5d
Resource Observation:
Generated Narrative: Observation gx-genomic-variant-somatic-kdm5d
status: Final
category: Laboratory
code: Genetic variant assessment
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
value: Present
method: Sequencing
component
code: Gene studied [ID]
value: KDM5D
component
code: Genomic source class [Type]
value: Somatic
component
code: Molecular Consequence
value: copy_number_loss
component
code: Human reference sequence assembly version
value: GRCh37
Entry 11 - fullUrl = http://example.org/fhir/Observation/gx-genomic-variant-somatic-mtap
Resource Observation:
Generated Narrative: Observation gx-genomic-variant-somatic-mtap
status: Final
category: Laboratory
code: Genetic variant assessment
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
value: Present
method: Sequencing
component
code: Gene studied [ID]
value: MTAP
component
code: Genomic source class [Type]
value: Somatic
component
code: Molecular Consequence
value: copy_number_loss
component
code: Human reference sequence assembly version
value: GRCh37
Entry 12 - fullUrl = http://example.org/fhir/Observation/gx-genomic-variant-somatic-mycn
Resource Observation:
Generated Narrative: Observation gx-genomic-variant-somatic-mycn
status: Final
category: Laboratory
code: Genetic variant assessment
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
value: Present
method: Sequencing
component
code: Gene studied [ID]
value: MYCN
component
code: Genomic source class [Type]
value: Somatic
component
code: Molecular Consequence
value: copy_number_gain
component
code: Human reference sequence assembly version
value: GRCh37
Entry 13 - fullUrl = http://example.org/fhir/Observation/gx-genomic-variant-somatic-pof1b
Resource Observation:
Generated Narrative: Observation gx-genomic-variant-somatic-pof1b
status: Final
category: Laboratory
code: Genetic variant assessment
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
value: Present
method: Sequencing
component
code: Gene studied [ID]
value: POF1B
component
code: Genomic source class [Type]
value: Somatic
component
code: Molecular Consequence
value: missense_variant
component
code: Transcript reference sequence [ID]
value: NM_004656
component
code: DNA change (c.HGVS)
value: NM_001307940.2:c.430C>T
component
code: Amino acid change (pHGVS)
value: NP_001294869.1:p.(Pro144Ser)
component
code: Sample variant allelic frequency [NFr]
value: 78.6 % (Details: UCUM code% = '%')
component
code: Human reference sequence assembly version
value: GRCh37
Entry 14 - fullUrl = http://example.org/fhir/Observation/gx-genomic-variant-somatic-polrmt
Resource Observation:
Generated Narrative: Observation gx-genomic-variant-somatic-polrmt
status: Final
category: Laboratory
code: Genetic variant assessment
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
value: Present
method: Sequencing
component
code: Gene studied [ID]
value: POLRMT
component
code: Genomic source class [Type]
value: Somatic
component
code: Molecular Consequence
value: missense_variant
component
code: Transcript reference sequence [ID]
value: NM_005035
component
code: DNA change (c.HGVS)
value: NM_005035.4:c.598G>A
component
code: Amino acid change (pHGVS)
value: NP_005026.3:p.(Gly200Arg)
component
code: Sample variant allelic frequency [NFr]
value: 75.6 % (Details: UCUM code% = '%')
component
code: Human reference sequence assembly version
value: GRCh37
Entry 15 - fullUrl = http://example.org/fhir/Observation/gx-genomic-diagnostic-implication-bap1
Resource Observation:
Generated Narrative: Observation gx-genomic-diagnostic-implication-bap1
status: Final
category: Laboratory
code: Diagnostic Implication
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
derivedFrom: Observation Genetic variant assessment
Components
Code Value[x] Functional Effect loss of function variant
Entry 16 - fullUrl = http://example.org/fhir/Observation/gx-genomic-diagnostic-implication-pof1b
Resource Observation:
Generated Narrative: Observation gx-genomic-diagnostic-implication-pof1b
status: Final
category: Laboratory
code: Diagnostic Implication
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
derivedFrom: Observation Genetic variant assessment
Components
Code Value[x] Genetic variation clinical significance [Imp] Uncertain significance
Entry 17 - fullUrl = http://example.org/fhir/Observation/gx-genomic-diagnostic-implication-polrmt
Resource Observation:
Generated Narrative: Observation gx-genomic-diagnostic-implication-polrmt
status: Final
category: Laboratory
code: Diagnostic Implication
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
derivedFrom: Observation Genetic variant assessment
Components
Code Value[x] Genetic variation clinical significance [Imp] Uncertain significance
Entry 18 - fullUrl = http://example.org/fhir/Observation/gx-genomic-variant-fusion-met-alk
Resource Observation:
Generated Narrative: Observation gx-genomic-variant-fusion-met-alk
status: Final
category: Laboratory
code: Genetic variant assessment
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
value: Present
method: Sequencing
component
code: Gene studied [ID]
value: MET
component
code: Gene studied [ID]
value: ALK
component
code: DNA change type
value: complex chromosomal rearrangement
component
code: Genomic source class [Type]
value: Somatic
Entry 19 - fullUrl = http://example.org/fhir/Observation/gx-genomic-variant-pertinent-negative-nras-kit-braf
Resource Observation:
Generated Narrative: Observation gx-genomic-variant-pertinent-negative-nras-kit-braf
status: Final
category: Laboratory
code: Genetic variant assessment
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
value: Absent
method: Sequencing
component
code: Gene studied [ID]
value: NRAS
component
code: Gene studied [ID]
value: KIT
component
code: Gene studied [ID]
value: BRAF
Entry 20 - fullUrl = http://example.org/fhir/Observation/gx-genomic-tmb
Resource Observation:
Generated Narrative: Observation gx-genomic-tmb
status: Final
category: Laboratory
code: Mutations/Megabase [# Ratio] in Tumor
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
value: 57.1 1/1000000{Base} (Details: UCUM code1/1000000{Base} = '1/1000000{Base}')
Entry 21 - fullUrl = http://example.org/fhir/Observation/gx-genomic-therapeutic-implication-alectinib
Resource Observation:
Generated Narrative: Observation gx-genomic-therapeutic-implication-alectinib
status: Final
category: Laboratory
code: Therapeutic Implication
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
derivedFrom: Observation Genetic variant assessment
component
code: Medication assessed [ID]
value: alectinib
component
code: Predicted Therapeutic Implication
value: Presumed responsive
Entry 22 - fullUrl = http://example.org/fhir/Observation/gx-genomic-therapeutic-implication-brigatinib
Resource Observation:
Generated Narrative: Observation gx-genomic-therapeutic-implication-brigatinib
status: Final
category: Laboratory
code: Therapeutic Implication
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
derivedFrom: Observation Genetic variant assessment
component
code: Medication assessed [ID]
value: brigatinib
component
code: Predicted Therapeutic Implication
value: Presumed responsive
Entry 23 - fullUrl = http://example.org/fhir/Observation/gx-genomic-therapeutic-implication-ceritinib
Resource Observation:
Generated Narrative: Observation gx-genomic-therapeutic-implication-ceritinib
status: Final
category: Laboratory
code: Therapeutic Implication
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
derivedFrom: Observation Genetic variant assessment
component
code: Medication assessed [ID]
value: ceritinib
component
code: Predicted Therapeutic Implication
value: Presumed responsive
Entry 24 - fullUrl = http://example.org/fhir/Observation/gx-genomic-therapeutic-implication-crizotinib
Resource Observation:
Generated Narrative: Observation gx-genomic-therapeutic-implication-crizotinib
status: Final
category: Laboratory
code: Therapeutic Implication
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
derivedFrom: Observation Genetic variant assessment
component
code: Medication assessed [ID]
value: crizotinib
component
code: Predicted Therapeutic Implication
value: Presumed responsive
Entry 25 - fullUrl = http://example.org/fhir/Observation/gx-genomic-therapeutic-implication-lorlatinib
Resource Observation:
Generated Narrative: Observation gx-genomic-therapeutic-implication-lorlatinib
status: Final
category: Laboratory
code: Therapeutic Implication
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
derivedFrom: Observation Genetic variant assessment
component
code: Medication assessed [ID]
value: lorlatinib
component
code: Predicted Therapeutic Implication
value: Presumed responsive