gx-genomic-bundle-adam-anyperson
type: Bundle
node role: treeRoot
id:
  v: gx-genomic-bundle-adam-anyperson
type:
  v: collection
entry:
  full url:
    v: http://example.org/fhir/Patient/gx-cancer-patient-adam-anyperson
  resource: gx-cancer-patient-adam-anyperson
entry:
  full url:
    v: http://example.org/fhir/DiagnosticReport/gx-genomics-report-adam-anyperson
  resource: gx-genomics-report-adam-anyperson
entry:
  full url:
    v: http://example.org/fhir/ServiceRequest/gx-order-tumornormal-gensop-inc
  resource: gx-order-tumornormal-gensop-inc
entry:
  full url:
    v: http://example.org/fhir/Practitioner/gx-practitioner-test-pathologist
  resource: gx-practitioner-test-pathologist
entry:
  full url:
    v: http://example.org/fhir/Specimen/gx-genomic-specimen-tumornormal-tumor
  resource: gx-genomic-specimen-tumornormal-tumor
entry:
  full url:
    v: http://example.org/fhir/Specimen/gx-genomic-specimen-tumornormal-normal
  resource: gx-genomic-specimen-tumornormal-normal
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-variant-somatic-bap1-indel
  resource: gx-genomic-variant-somatic-bap1-indel
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-variant-somatic-cdkn2a-cnv
  resource: gx-genomic-variant-somatic-cdkn2a-cnv
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-variant-somatic-cdkn2b-cnv
  resource: gx-genomic-variant-somatic-cdkn2b-cnv
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-variant-somatic-kdm5d
  resource: gx-genomic-variant-somatic-kdm5d
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-variant-somatic-mtap
  resource: gx-genomic-variant-somatic-mtap
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-variant-somatic-mycn
  resource: gx-genomic-variant-somatic-mycn
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-variant-somatic-pof1b
  resource: gx-genomic-variant-somatic-pof1b
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-variant-somatic-polrmt
  resource: gx-genomic-variant-somatic-polrmt
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-diagnostic-implication-bap1
  resource: gx-genomic-diagnostic-implication-bap1
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-diagnostic-implication-pof1b
  resource: gx-genomic-diagnostic-implication-pof1b
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-diagnostic-implication-polrmt
  resource: gx-genomic-diagnostic-implication-polrmt
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-variant-fusion-met-alk
  resource: gx-genomic-variant-fusion-met-alk
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-variant-pertinent-negative-nras-kit-braf
  resource: gx-genomic-variant-pertinent-negative-nras-kit-braf
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-tmb
  resource: gx-genomic-tmb
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-therapeutic-implication-alectinib
  resource: gx-genomic-therapeutic-implication-alectinib
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-therapeutic-implication-brigatinib
  resource: gx-genomic-therapeutic-implication-brigatinib
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-therapeutic-implication-ceritinib
  resource: gx-genomic-therapeutic-implication-ceritinib
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-therapeutic-implication-crizotinib
  resource: gx-genomic-therapeutic-implication-crizotinib
entry:
  full url:
    v: http://example.org/fhir/Observation/gx-genomic-therapeutic-implication-lorlatinib
  resource: gx-genomic-therapeutic-implication-lorlatinib

gx-cancer-patient-adam-anyperson
type: Patient
id:
  v: gx-cancer-patient-adam-anyperson
meta:
  profile:
    v: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-cancer-patient
    link: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-cancer-patient
text:
  status:
    v: generated
  div: 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
extension:
  url:
    v: http://hl7.org/fhir/us/core/StructureDefinition/us-core-birthsex
  value: code
    v: M
identifier:
  use:
    v: usual
  type:
    coding:
      system:
        v: http://terminology.hl7.org/CodeSystem/v2-0203
      code:
        v: PT
      display:
        v: Patient external identifier
  system:
    v: https://www.gensop.com
identifier:
  type:
    coding:
      system:
        v: http://terminology.hl7.org/CodeSystem/v2-0203
      code:
        v: MR
      display:
        v: Medical Record Number
  system:
    v: http://hospital.example.org
  value:
    v: 123456789
name:
  family:
    v: Anyperson
  given:
    v: Adam
gender:
  v: male
birth date:
  v: 1990-01-01
address:
  line:
    v: 987 Main St
  city:
    v: Anytown
  postal code:
    v: 12345
  country:
    v: US

gx-genomics-report-adam-anyperson
type: DiagnosticReport
id:
  v: gx-genomics-report-adam-anyperson
meta:
  profile:
    v: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomics-report
    link: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomics-report
text:
  status:
    v: generated
  div: 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 Code Value Flags When For Genetic variant assessment Present Final 2019-04-01 Genetic variant assessment Present Final 2019-04-01 Genetic variant assessment Present Final 2019-04-01 Genetic variant assessment Present Final 2019-04-01 Genetic variant assessment Present Final 2019-04-01 Genetic variant assessment Present Final 2019-04-01 Genetic variant assessment Present Final 2019-04-01 Genetic variant assessment Present Final 2019-04-01 Diagnostic Implication Final 2019-04-01 Diagnostic Implication Final 2019-04-01 Diagnostic Implication Final 2019-04-01 Genetic variant assessment Present Final 2019-04-01 Genetic variant assessment Absent Final 2019-04-01 Mutations/Megabase [# Ratio] in Tumor 57.1 1/1000000{Base} (Details: UCUM code1/1000000{Base} = '1/1000000{Base}') Final 2019-04-01 Microsatellite instability [Interpretation] in Cancer specimen Qualitative MSI-H Final 2019-04-01 Therapeutic Implication Final 2019-04-01 Therapeutic Implication Final 2019-04-01 Therapeutic Implication Final 2019-04-01 Therapeutic Implication Final 2019-04-01 Therapeutic Implication Final 2019-04-01
based on:
  link: http://hl7.org/fhir/us/mcode/ServiceRequest/gx-order-tumornormal-gensop-inc
  reference:
    v: ServiceRequest/gx-order-tumornormal-gensop-inc
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/v2-0074
    code:
      v: GE
code:
  coding: https://loinc.org/rdf/51969-4
    system:
      v: http://loinc.org
    code:
      v: 51969-4
    display:
      v: Genetic analysis report
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2022-02-15T19:28:58+05:00
performer:
  link: http://hl7.org/fhir/us/mcode/Organization/gx-us-core-organization-gensop-inc
  reference:
    v: Organization/gx-us-core-organization-gensop-inc
results interpreter:
  link: http://hl7.org/fhir/us/mcode/Practitioner/gx-practitioner-test-pathologist
  reference:
    v: Practitioner/gx-practitioner-test-pathologist
specimen:
  link: http://hl7.org/fhir/us/mcode/Specimen/gx-genomic-specimen-tumornormal-tumor
  reference:
    v: Specimen/gx-genomic-specimen-tumornormal-tumor
specimen:
  link: http://hl7.org/fhir/us/mcode/Specimen/gx-genomic-specimen-tumornormal-normal
  reference:
    v: Specimen/gx-genomic-specimen-tumornormal-normal
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-somatic-bap1-indel
  reference:
    v: Observation/gx-genomic-variant-somatic-bap1-indel
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-somatic-cdkn2a-cnv
  reference:
    v: Observation/gx-genomic-variant-somatic-cdkn2a-cnv
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-somatic-cdkn2b-cnv
  reference:
    v: Observation/gx-genomic-variant-somatic-cdkn2b-cnv
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-somatic-kdm5d
  reference:
    v: Observation/gx-genomic-variant-somatic-kdm5d
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-somatic-mtap
  reference:
    v: Observation/gx-genomic-variant-somatic-mtap
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-somatic-mycn
  reference:
    v: Observation/gx-genomic-variant-somatic-mycn
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-somatic-pof1b
  reference:
    v: Observation/gx-genomic-variant-somatic-pof1b
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-somatic-polrmt
  reference:
    v: Observation/gx-genomic-variant-somatic-polrmt
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-diagnostic-implication-bap1
  reference:
    v: Observation/gx-genomic-diagnostic-implication-bap1
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-diagnostic-implication-pof1b
  reference:
    v: Observation/gx-genomic-diagnostic-implication-pof1b
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-diagnostic-implication-polrmt
  reference:
    v: Observation/gx-genomic-diagnostic-implication-polrmt
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-fusion-met-alk
  reference:
    v: Observation/gx-genomic-variant-fusion-met-alk
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-pertinent-negative-nras-kit-braf
  reference:
    v: Observation/gx-genomic-variant-pertinent-negative-nras-kit-braf
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-tmb
  reference:
    v: Observation/gx-genomic-tmb
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-msi
  reference:
    v: Observation/gx-genomic-msi
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-therapeutic-implication-alectinib
  reference:
    v: Observation/gx-genomic-therapeutic-implication-alectinib
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-therapeutic-implication-brigatinib
  reference:
    v: Observation/gx-genomic-therapeutic-implication-brigatinib
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-therapeutic-implication-ceritinib
  reference:
    v: Observation/gx-genomic-therapeutic-implication-ceritinib
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-therapeutic-implication-crizotinib
  reference:
    v: Observation/gx-genomic-therapeutic-implication-crizotinib
result:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-therapeutic-implication-lorlatinib
  reference:
    v: Observation/gx-genomic-therapeutic-implication-lorlatinib

gx-order-tumornormal-gensop-inc
type: ServiceRequest
id:
  v: gx-order-tumornormal-gensop-inc
text:
  status:
    v: generated
  div: Generated Narrative: ServiceRequest gx-order-tumornormal-gensop-inc identifier: Filler Identifier/22howe status: Completed intent: Order code: xT - 648 gene panel subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789) reasonCode: Malignant neoplasm of unspecified part of bronchus or lung
identifier:
  type:
    coding:
      system:
        v: http://terminology.hl7.org/CodeSystem/v2-0203
      code:
        v: FILL
      display:
        v: Filler Identifier
  system:
    v: https://www.gensop.com
  value:
    v: 22howe
status:
  v: completed
intent:
  v: order
code:
  coding:
    system:
      v: https://www.gensop.com
    code:
      v: XT.V4
    display:
      v: xT - 648 gene panel
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
reason code:
  coding:
    system:
      v: http://hl7.org/fhir/sid/icd-10-cm
    code:
      v: C34.9
    display:
      v: Malignant neoplasm of unspecified part of bronchus or lung
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/icd-o-3
    code:
      v: 8140/3
    display:
      v: Adenocarcinoma, NOS

gx-practitioner-test-pathologist
type: Practitioner
id:
  v: gx-practitioner-test-pathologist
text:
  status:
    v: generated
  div: Generated Narrative: Practitioner gx-practitioner-test-pathologist name: Test Pathologist, MD
name:
  text:
    v: Test Pathologist, MD

gx-genomic-specimen-tumornormal-tumor
type: Specimen
id:
  v: gx-genomic-specimen-tumornormal-tumor
meta:
  profile:
    v: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-human-specimen
    link: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-human-specimen
text:
  status:
    v: generated
  div: 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 Left lung structure (body structure)
status:
  v: available
type:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/v2-0487
    code:
      v: TUMOR
    display:
      v: Tumor
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
received time:
  v: 2021-02-09T21:30:50+05:00
collection:
  collected: dateTime
    v: 2021-02-06T17:15:00+05:00
  body site:
    coding: http://snomed.info/id/44029006
      system:
        v: http://snomed.info/sct
      code:
        v: 44029006
      display:
        v: Left lung structure (body structure)

gx-genomic-specimen-tumornormal-normal
type: Specimen
id:
  v: gx-genomic-specimen-tumornormal-normal
meta:
  profile:
    v: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-human-specimen
    link: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-human-specimen
text:
  status:
    v: generated
  div: 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
status:
  v: available
type:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/v2-0487
    code:
      v: BLD
    display:
      v: Whole Blood
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
received time:
  v: 2021-02-09T21:30:50+05:00
collection:
  collected: dateTime
    v: 2021-02-06T17:15:00+05:00

gx-genomic-variant-somatic-bap1-indel
type: Observation
id:
  v: gx-genomic-variant-somatic-bap1-indel
meta:
  profile:
    v: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
    link: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
text:
  status:
    v: generated
  div: 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: T}">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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding: https://loinc.org/rdf/69548-6
    system:
      v: http://loinc.org
    code:
      v: 69548-6
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
value: CodeableConcept
  coding: LA9633-4
    system:
      v: http://loinc.org
    code:
      v: LA9633-4
    display:
      v: Present
method:
  coding: LA26398-0
    system:
      v: http://loinc.org
    code:
      v: LA26398-0
    display:
      v: Sequencing
component:
  code:
    coding: https://loinc.org/rdf/48018-6
      system:
        v: http://loinc.org
      code:
        v: 48018-6
  value: CodeableConcept
    coding:
      system:
        v: http://www.genenames.org
      code:
        v: HGNC:950
      display:
        v: BAP1
    coding:
      system:
        v: https://www.ncbi.nlm.nih.gov/gene
      code:
        v: 3815
      display:
        v: BAP1
component:
  code:
    coding: https://loinc.org/rdf/51958-7
      system:
        v: http://loinc.org
      code:
        v: 51958-7
  value: CodeableConcept
    coding:
      system:
        v: http://www.ncbi.nlm.nih.gov/refseq
      code:
        v: NM_004656
      display:
        v: NM_004656.4
component:
  code:
    coding: https://loinc.org/rdf/48004-6
      system:
        v: http://loinc.org
      code:
        v: 48004-6
  value: CodeableConcept
    coding:
      system:
        v: http://varnomen.hgvs.org
      code:
        v: NM_004656.4:c.1768C>T
      display:
        v: NM_004656.4:c.1768C>T
component:
  code:
    coding: https://loinc.org/rdf/48005-3
      system:
        v: http://loinc.org
      code:
        v: 48005-3
  value: CodeableConcept
    coding:
      system:
        v: http://varnomen.hgvs.org
      code:
        v: NP_004647.1:p.(Gln590Ter)
      display:
        v: NP_004647.1:p.(Gln590Ter)
component:
  code:
    coding: https://loinc.org/rdf/48002-0
      system:
        v: http://loinc.org
      code:
        v: 48002-0
  value: CodeableConcept
    coding: LA6684-0
      system:
        v: http://loinc.org
      code:
        v: LA6684-0
      display:
        v: Somatic
component:
  code:
    coding: https://loinc.org/rdf/81258-6
      system:
        v: http://loinc.org
      code:
        v: 81258-6
  value: Quantity
    value:
      v: 57.4
    unit:
      v: %
    system:
      v: http://unitsofmeasure.org
    code:
      v: %
component:
  code:
    coding:
      system:
        v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
      code:
        v: molecular-consequence
  value: CodeableConcept
    coding:
      system:
        v: http://www.sequenceontology.org/
      code:
        v: SO:0001587
      display:
        v: stop_gained
component:
  code:
    coding: https://loinc.org/rdf/62374-4
      system:
        v: http://loinc.org
      code:
        v: 62374-4
  value: CodeableConcept
    coding: LA14029-5
      system:
        v: http://loinc.org
      code:
        v: LA14029-5
      display:
        v: GRCh37

gx-genomic-variant-somatic-cdkn2a-cnv
type: Observation
id:
  v: gx-genomic-variant-somatic-cdkn2a-cnv
meta:
  profile:
    v: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
    link: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
text:
  status:
    v: generated
  div: 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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding: https://loinc.org/rdf/69548-6
    system:
      v: http://loinc.org
    code:
      v: 69548-6
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
value: CodeableConcept
  coding: LA9633-4
    system:
      v: http://loinc.org
    code:
      v: LA9633-4
    display:
      v: Present
method:
  coding: LA26398-0
    system:
      v: http://loinc.org
    code:
      v: LA26398-0
    display:
      v: Sequencing
component:
  code:
    coding: https://loinc.org/rdf/48018-6
      system:
        v: http://loinc.org
      code:
        v: 48018-6
  value: CodeableConcept
    coding:
      system:
        v: http://www.genenames.org
      code:
        v: HGNC:1787
      display:
        v: CDKN2A
    coding:
      system:
        v: https://www.ncbi.nlm.nih.gov/gene
      code:
        v: 1029
      display:
        v: CDKN2A
component:
  code:
    coding: https://loinc.org/rdf/48002-0
      system:
        v: http://loinc.org
      code:
        v: 48002-0
  value: CodeableConcept
    coding: LA6684-0
      system:
        v: http://loinc.org
      code:
        v: LA6684-0
      display:
        v: Somatic
component:
  code:
    coding:
      system:
        v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
      code:
        v: molecular-consequence
  value: CodeableConcept
    coding:
      system:
        v: http://www.sequenceontology.org/
      code:
        v: SO:0001743
      display:
        v: copy_number_loss
component:
  code:
    coding: https://loinc.org/rdf/62374-4
      system:
        v: http://loinc.org
      code:
        v: 62374-4
  value: CodeableConcept
    coding: LA14029-5
      system:
        v: http://loinc.org
      code:
        v: LA14029-5
      display:
        v: GRCh37

gx-genomic-variant-somatic-cdkn2b-cnv
type: Observation
id:
  v: gx-genomic-variant-somatic-cdkn2b-cnv
meta:
  profile:
    v: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
    link: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
text:
  status:
    v: generated
  div: 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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding: https://loinc.org/rdf/69548-6
    system:
      v: http://loinc.org
    code:
      v: 69548-6
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
value: CodeableConcept
  coding: LA9633-4
    system:
      v: http://loinc.org
    code:
      v: LA9633-4
    display:
      v: Present
method:
  coding: LA26398-0
    system:
      v: http://loinc.org
    code:
      v: LA26398-0
    display:
      v: Sequencing
component:
  code:
    coding: https://loinc.org/rdf/48018-6
      system:
        v: http://loinc.org
      code:
        v: 48018-6
  value: CodeableConcept
    coding:
      system:
        v: http://www.genenames.org
      code:
        v: HGNC:1788
      display:
        v: CDKN2B
    coding:
      system:
        v: https://www.ncbi.nlm.nih.gov/gene
      code:
        v: 1030
      display:
        v: CDKN2B
component:
  code:
    coding: https://loinc.org/rdf/48002-0
      system:
        v: http://loinc.org
      code:
        v: 48002-0
  value: CodeableConcept
    coding: LA6684-0
      system:
        v: http://loinc.org
      code:
        v: LA6684-0
      display:
        v: Somatic
component:
  code:
    coding:
      system:
        v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
      code:
        v: molecular-consequence
  value: CodeableConcept
    coding:
      system:
        v: http://www.sequenceontology.org/
      code:
        v: SO:0001743
      display:
        v: copy_number_loss
component:
  code:
    coding: https://loinc.org/rdf/62374-4
      system:
        v: http://loinc.org
      code:
        v: 62374-4
  value: CodeableConcept
    coding: LA14029-5
      system:
        v: http://loinc.org
      code:
        v: LA14029-5
      display:
        v: GRCh37

gx-genomic-variant-somatic-kdm5d
type: Observation
id:
  v: gx-genomic-variant-somatic-kdm5d
meta:
  profile:
    v: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
    link: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
text:
  status:
    v: generated
  div: 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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding: https://loinc.org/rdf/69548-6
    system:
      v: http://loinc.org
    code:
      v: 69548-6
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
value: CodeableConcept
  coding: LA9633-4
    system:
      v: http://loinc.org
    code:
      v: LA9633-4
    display:
      v: Present
method:
  coding: LA26398-0
    system:
      v: http://loinc.org
    code:
      v: LA26398-0
    display:
      v: Sequencing
component:
  code:
    coding: https://loinc.org/rdf/48018-6
      system:
        v: http://loinc.org
      code:
        v: 48018-6
  value: CodeableConcept
    coding:
      system:
        v: http://www.genenames.org
      code:
        v: HGNC:11115
      display:
        v: KDM5D
    coding:
      system:
        v: https://www.ncbi.nlm.nih.gov/gene
      code:
        v: 8284
      display:
        v: KDM5D
component:
  code:
    coding: https://loinc.org/rdf/48002-0
      system:
        v: http://loinc.org
      code:
        v: 48002-0
  value: CodeableConcept
    coding: LA6684-0
      system:
        v: http://loinc.org
      code:
        v: LA6684-0
      display:
        v: Somatic
component:
  code:
    coding:
      system:
        v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
      code:
        v: molecular-consequence
  value: CodeableConcept
    coding:
      system:
        v: http://www.sequenceontology.org/
      code:
        v: SO:0001743
      display:
        v: copy_number_loss
component:
  code:
    coding: https://loinc.org/rdf/62374-4
      system:
        v: http://loinc.org
      code:
        v: 62374-4
  value: CodeableConcept
    coding: LA14029-5
      system:
        v: http://loinc.org
      code:
        v: LA14029-5
      display:
        v: GRCh37

gx-genomic-variant-somatic-mtap
type: Observation
id:
  v: gx-genomic-variant-somatic-mtap
meta:
  profile:
    v: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
    link: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
text:
  status:
    v: generated
  div: 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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding: https://loinc.org/rdf/69548-6
    system:
      v: http://loinc.org
    code:
      v: 69548-6
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
value: CodeableConcept
  coding: LA9633-4
    system:
      v: http://loinc.org
    code:
      v: LA9633-4
    display:
      v: Present
method:
  coding: LA26398-0
    system:
      v: http://loinc.org
    code:
      v: LA26398-0
    display:
      v: Sequencing
component:
  code:
    coding: https://loinc.org/rdf/48018-6
      system:
        v: http://loinc.org
      code:
        v: 48018-6
  value: CodeableConcept
    coding:
      system:
        v: http://www.genenames.org
      code:
        v: HGNC:7413
      display:
        v: MTAP
    coding:
      system:
        v: https://www.ncbi.nlm.nih.gov/gene
      code:
        v: 4507
      display:
        v: MTAP
component:
  code:
    coding: https://loinc.org/rdf/48002-0
      system:
        v: http://loinc.org
      code:
        v: 48002-0
  value: CodeableConcept
    coding: LA6684-0
      system:
        v: http://loinc.org
      code:
        v: LA6684-0
      display:
        v: Somatic
component:
  code:
    coding:
      system:
        v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
      code:
        v: molecular-consequence
  value: CodeableConcept
    coding:
      system:
        v: http://www.sequenceontology.org/
      code:
        v: SO:0001743
      display:
        v: copy_number_loss
component:
  code:
    coding: https://loinc.org/rdf/62374-4
      system:
        v: http://loinc.org
      code:
        v: 62374-4
  value: CodeableConcept
    coding: LA14029-5
      system:
        v: http://loinc.org
      code:
        v: LA14029-5
      display:
        v: GRCh37

gx-genomic-variant-somatic-mycn
type: Observation
id:
  v: gx-genomic-variant-somatic-mycn
meta:
  profile:
    v: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
    link: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
text:
  status:
    v: generated
  div: 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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding: https://loinc.org/rdf/69548-6
    system:
      v: http://loinc.org
    code:
      v: 69548-6
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
value: CodeableConcept
  coding: LA9633-4
    system:
      v: http://loinc.org
    code:
      v: LA9633-4
    display:
      v: Present
method:
  coding: LA26398-0
    system:
      v: http://loinc.org
    code:
      v: LA26398-0
    display:
      v: Sequencing
component:
  code:
    coding: https://loinc.org/rdf/48018-6
      system:
        v: http://loinc.org
      code:
        v: 48018-6
  value: CodeableConcept
    coding:
      system:
        v: http://www.genenames.org
      code:
        v: HGNC:7559
      display:
        v: MYCN
    coding:
      system:
        v: https://www.ncbi.nlm.nih.gov/gene
      code:
        v: 4613
      display:
        v: MYCN
component:
  code:
    coding: https://loinc.org/rdf/48002-0
      system:
        v: http://loinc.org
      code:
        v: 48002-0
  value: CodeableConcept
    coding: LA6684-0
      system:
        v: http://loinc.org
      code:
        v: LA6684-0
      display:
        v: Somatic
component:
  code:
    coding:
      system:
        v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
      code:
        v: molecular-consequence
  value: CodeableConcept
    coding:
      system:
        v: http://www.sequenceontology.org/
      code:
        v: SO:0001742
      display:
        v: copy_number_gain
component:
  code:
    coding: https://loinc.org/rdf/62374-4
      system:
        v: http://loinc.org
      code:
        v: 62374-4
  value: CodeableConcept
    coding: LA14029-5
      system:
        v: http://loinc.org
      code:
        v: LA14029-5
      display:
        v: GRCh37

gx-genomic-variant-somatic-pof1b
type: Observation
id:
  v: gx-genomic-variant-somatic-pof1b
meta:
  profile:
    v: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
    link: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
text:
  status:
    v: generated
  div: 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: T}">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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding: https://loinc.org/rdf/69548-6
    system:
      v: http://loinc.org
    code:
      v: 69548-6
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
value: CodeableConcept
  coding: LA9633-4
    system:
      v: http://loinc.org
    code:
      v: LA9633-4
    display:
      v: Present
method:
  coding: LA26398-0
    system:
      v: http://loinc.org
    code:
      v: LA26398-0
    display:
      v: Sequencing
component:
  code:
    coding: https://loinc.org/rdf/48018-6
      system:
        v: http://loinc.org
      code:
        v: 48018-6
  value: CodeableConcept
    coding:
      system:
        v: http://www.genenames.org
      code:
        v: HGNC:13711
      display:
        v: POF1B
    coding:
      system:
        v: https://www.ncbi.nlm.nih.gov/gene
      code:
        v: 79983
      display:
        v: POF1B
component:
  code:
    coding: https://loinc.org/rdf/48002-0
      system:
        v: http://loinc.org
      code:
        v: 48002-0
  value: CodeableConcept
    coding: LA6684-0
      system:
        v: http://loinc.org
      code:
        v: LA6684-0
      display:
        v: Somatic
component:
  code:
    coding:
      system:
        v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
      code:
        v: molecular-consequence
  value: CodeableConcept
    coding:
      system:
        v: http://www.sequenceontology.org/
      code:
        v: SO:0001583
      display:
        v: missense_variant
component:
  code:
    coding: https://loinc.org/rdf/51958-7
      system:
        v: http://loinc.org
      code:
        v: 51958-7
  value: CodeableConcept
    coding:
      system:
        v: http://www.ncbi.nlm.nih.gov/refseq
      code:
        v: NM_004656
      display:
        v: NM_004656
component:
  code:
    coding: https://loinc.org/rdf/48004-6
      system:
        v: http://loinc.org
      code:
        v: 48004-6
  value: CodeableConcept
    coding:
      system:
        v: http://varnomen.hgvs.org
      code:
        v: NM_001307940.2:c.430C>T
      display:
        v: NM_001307940.2:c.430C>T
component:
  code:
    coding: https://loinc.org/rdf/48005-3
      system:
        v: http://loinc.org
      code:
        v: 48005-3
  value: CodeableConcept
    coding:
      system:
        v: http://varnomen.hgvs.org
      code:
        v: NP_001294869.1:p.(Pro144Ser)
      display:
        v: NP_001294869.1:p.(Pro144Ser)
component:
  code:
    coding: https://loinc.org/rdf/81258-6
      system:
        v: http://loinc.org
      code:
        v: 81258-6
  value: Quantity
    value:
      v: 78.6
    unit:
      v: %
    system:
      v: http://unitsofmeasure.org
    code:
      v: %
component:
  code:
    coding: https://loinc.org/rdf/62374-4
      system:
        v: http://loinc.org
      code:
        v: 62374-4
  value: CodeableConcept
    coding: LA14029-5
      system:
        v: http://loinc.org
      code:
        v: LA14029-5
      display:
        v: GRCh37

gx-genomic-variant-somatic-polrmt
type: Observation
id:
  v: gx-genomic-variant-somatic-polrmt
meta:
  profile:
    v: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
    link: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
text:
  status:
    v: generated
  div: 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: A}">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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding: https://loinc.org/rdf/69548-6
    system:
      v: http://loinc.org
    code:
      v: 69548-6
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
value: CodeableConcept
  coding: LA9633-4
    system:
      v: http://loinc.org
    code:
      v: LA9633-4
    display:
      v: Present
method:
  coding: LA26398-0
    system:
      v: http://loinc.org
    code:
      v: LA26398-0
    display:
      v: Sequencing
component:
  code:
    coding: https://loinc.org/rdf/48018-6
      system:
        v: http://loinc.org
      code:
        v: 48018-6
  value: CodeableConcept
    coding:
      system:
        v: https://www.ncbi.nlm.nih.gov/gene
      code:
        v: 5442
      display:
        v: POLRMT
component:
  code:
    coding: https://loinc.org/rdf/48002-0
      system:
        v: http://loinc.org
      code:
        v: 48002-0
  value: CodeableConcept
    coding: LA6684-0
      system:
        v: http://loinc.org
      code:
        v: LA6684-0
      display:
        v: Somatic
component:
  code:
    coding:
      system:
        v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
      code:
        v: molecular-consequence
  value: CodeableConcept
    coding:
      system:
        v: http://www.sequenceontology.org/
      code:
        v: SO:0001583
      display:
        v: missense_variant
component:
  code:
    coding: https://loinc.org/rdf/51958-7
      system:
        v: http://loinc.org
      code:
        v: 51958-7
  value: CodeableConcept
    coding:
      system:
        v: http://www.ncbi.nlm.nih.gov/refseq
      code:
        v: NM_004656
      display:
        v: NM_005035
component:
  code:
    coding: https://loinc.org/rdf/48004-6
      system:
        v: http://loinc.org
      code:
        v: 48004-6
  value: CodeableConcept
    coding:
      system:
        v: http://varnomen.hgvs.org
      code:
        v: NM_005035.4:c.598G>A
      display:
        v: NM_005035.4:c.598G>A
component:
  code:
    coding: https://loinc.org/rdf/48005-3
      system:
        v: http://loinc.org
      code:
        v: 48005-3
  value: CodeableConcept
    coding:
      system:
        v: http://varnomen.hgvs.org
      code:
        v: NP_005026.3:p.(Gly200Arg)
      display:
        v: NP_005026.3:p.(Gly200Arg)
component:
  code:
    coding: https://loinc.org/rdf/81258-6
      system:
        v: http://loinc.org
      code:
        v: 81258-6
  value: Quantity
    value:
      v: 75.6
    unit:
      v: %
    system:
      v: http://unitsofmeasure.org
    code:
      v: %
component:
  code:
    coding: https://loinc.org/rdf/62374-4
      system:
        v: http://loinc.org
      code:
        v: 62374-4
  value: CodeableConcept
    coding: LA14029-5
      system:
        v: http://loinc.org
      code:
        v: LA14029-5
      display:
        v: GRCh37

gx-genomic-diagnostic-implication-bap1
type: Observation
id:
  v: gx-genomic-diagnostic-implication-bap1
meta:
  profile:
    v: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication
    link: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication
text:
  status:
    v: generated
  div: 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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding:
    system:
      v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
    code:
      v: diagnostic-implication
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
derived from:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-somatic-bap1-indel
  reference:
    v: Observation/gx-genomic-variant-somatic-bap1-indel
component:
  code:
    coding:
      system:
        v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
      code:
        v: functional-effect
  value: CodeableConcept
    coding:
      system:
        v: http://www.sequenceontology.org/
      code:
        v: SO:0002054
      display:
        v: loss of function variant

gx-genomic-diagnostic-implication-pof1b
type: Observation
id:
  v: gx-genomic-diagnostic-implication-pof1b
meta:
  profile:
    v: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication
    link: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication
text:
  status:
    v: generated
  div: 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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding:
    system:
      v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
    code:
      v: diagnostic-implication
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
derived from:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-somatic-pof1b
  reference:
    v: Observation/gx-genomic-variant-somatic-pof1b
component:
  code:
    coding: https://loinc.org/rdf/53037-8
      system:
        v: http://loinc.org
      code:
        v: 53037-8
  value: CodeableConcept
    coding: LA26333-7
      system:
        v: http://loinc.org
      code:
        v: LA26333-7
      display:
        v: Uncertain significance

gx-genomic-diagnostic-implication-polrmt
type: Observation
id:
  v: gx-genomic-diagnostic-implication-polrmt
meta:
  profile:
    v: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication
    link: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication
text:
  status:
    v: generated
  div: 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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding:
    system:
      v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
    code:
      v: diagnostic-implication
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
derived from:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-somatic-polrmt
  reference:
    v: Observation/gx-genomic-variant-somatic-polrmt
component:
  code:
    coding: https://loinc.org/rdf/53037-8
      system:
        v: http://loinc.org
      code:
        v: 53037-8
  value: CodeableConcept
    coding: LA26333-7
      system:
        v: http://loinc.org
      code:
        v: LA26333-7
      display:
        v: Uncertain significance

gx-genomic-variant-fusion-met-alk
type: Observation
id:
  v: gx-genomic-variant-fusion-met-alk
meta:
  profile:
    v: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
    link: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
text:
  status:
    v: generated
  div: 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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding: https://loinc.org/rdf/69548-6
    system:
      v: http://loinc.org
    code:
      v: 69548-6
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
value: CodeableConcept
  coding: LA9633-4
    system:
      v: http://loinc.org
    code:
      v: LA9633-4
    display:
      v: Present
method:
  coding: LA26398-0
    system:
      v: http://loinc.org
    code:
      v: LA26398-0
    display:
      v: Sequencing
component:
  code:
    coding: https://loinc.org/rdf/48018-6
      system:
        v: http://loinc.org
      code:
        v: 48018-6
  value: CodeableConcept
    coding:
      system:
        v: http://www.genenames.org
      code:
        v: HGNC:7029
      display:
        v: MET
    coding:
      system:
        v: https://www.ncbi.nlm.nih.gov/gene
      code:
        v: 4233
      display:
        v: MET
component:
  code:
    coding: https://loinc.org/rdf/48018-6
      system:
        v: http://loinc.org
      code:
        v: 48018-6
  value: CodeableConcept
    coding:
      system:
        v: http://www.genenames.org
      code:
        v: HGNC:427
      display:
        v: ALK
    coding:
      system:
        v: https://www.ncbi.nlm.nih.gov/gene
      code:
        v: 238
      display:
        v: ALK
component:
  code:
    coding: https://loinc.org/rdf/48019-4
      system:
        v: http://loinc.org
      code:
        v: 48019-4
  value: CodeableConcept
    coding:
      system:
        v: http://www.sequenceontology.org/
      code:
        v: SO:0002062
      display:
        v: complex chromosomal rearrangement
component:
  code:
    coding: https://loinc.org/rdf/48002-0
      system:
        v: http://loinc.org
      code:
        v: 48002-0
  value: CodeableConcept
    coding: LA6684-0
      system:
        v: http://loinc.org
      code:
        v: LA6684-0
      display:
        v: Somatic

gx-genomic-variant-pertinent-negative-nras-kit-braf
type: Observation
id:
  v: gx-genomic-variant-pertinent-negative-nras-kit-braf
meta:
  profile:
    v: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
    link: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
text:
  status:
    v: generated
  div: 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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding: https://loinc.org/rdf/69548-6
    system:
      v: http://loinc.org
    code:
      v: 69548-6
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
value: CodeableConcept
  coding: LA9634-2
    system:
      v: http://loinc.org
    code:
      v: LA9634-2
    display:
      v: Absent
method:
  coding: LA26398-0
    system:
      v: http://loinc.org
    code:
      v: LA26398-0
    display:
      v: Sequencing
component:
  code:
    coding: https://loinc.org/rdf/48018-6
      system:
        v: http://loinc.org
      code:
        v: 48018-6
  value: CodeableConcept
    coding:
      system:
        v: http://www.genenames.org
      code:
        v: HGNC:6342
      display:
        v: NRAS
component:
  code:
    coding: https://loinc.org/rdf/48018-6
      system:
        v: http://loinc.org
      code:
        v: 48018-6
  value: CodeableConcept
    coding:
      system:
        v: http://www.genenames.org
      code:
        v: HGNC:7989
      display:
        v: KIT
component:
  code:
    coding: https://loinc.org/rdf/48018-6
      system:
        v: http://loinc.org
      code:
        v: 48018-6
  value: CodeableConcept
    coding:
      system:
        v: http://www.genenames.org
      code:
        v: HGNC:1097
      display:
        v: BRAF

gx-genomic-tmb
type: Observation
id:
  v: gx-genomic-tmb
meta:
  profile:
    v: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/tmb
    link: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/tmb
text:
  status:
    v: generated
  div: 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}')
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding: https://loinc.org/rdf/94076-7
    system:
      v: http://loinc.org
    code:
      v: 94076-7
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
value: Quantity
  value:
    v: 57.1
  system:
    v: http://unitsofmeasure.org
  code:
    v: 1/1000000{Base}

gx-genomic-therapeutic-implication-alectinib
type: Observation
id:
  v: gx-genomic-therapeutic-implication-alectinib
meta:
  profile:
    v: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication
    link: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication
text:
  status:
    v: generated
  div: 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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding:
    system:
      v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
    code:
      v: therapeutic-implication
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
derived from:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-fusion-met-alk
  reference:
    v: Observation/gx-genomic-variant-fusion-met-alk
component:
  code:
    coding: https://loinc.org/rdf/51963-7
      system:
        v: http://loinc.org
      code:
        v: 51963-7
  value: CodeableConcept
    coding:
      system:
        v: http://www.nlm.nih.gov/research/umls/rxnorm
      code:
        v: 1727455
      display:
        v: alectinib
component:
  code:
    coding:
      system:
        v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
      code:
        v: predicted-therapeutic-implication
  value: CodeableConcept
    coding: LA9661-5
      system:
        v: http://loinc.org
      code:
        v: LA9661-5
      display:
        v: Presumed responsive

gx-genomic-therapeutic-implication-brigatinib
type: Observation
id:
  v: gx-genomic-therapeutic-implication-brigatinib
meta:
  profile:
    v: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication
    link: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication
text:
  status:
    v: generated
  div: 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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding:
    system:
      v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
    code:
      v: therapeutic-implication
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
derived from:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-fusion-met-alk
  reference:
    v: Observation/gx-genomic-variant-fusion-met-alk
component:
  code:
    coding: https://loinc.org/rdf/51963-7
      system:
        v: http://loinc.org
      code:
        v: 51963-7
  value: CodeableConcept
    coding:
      system:
        v: http://www.nlm.nih.gov/research/umls/rxnorm
      code:
        v: 1921217
      display:
        v: brigatinib
component:
  code:
    coding:
      system:
        v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
      code:
        v: predicted-therapeutic-implication
  value: CodeableConcept
    coding: LA9661-5
      system:
        v: http://loinc.org
      code:
        v: LA9661-5
      display:
        v: Presumed responsive

gx-genomic-therapeutic-implication-ceritinib
type: Observation
id:
  v: gx-genomic-therapeutic-implication-ceritinib
meta:
  profile:
    v: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication
    link: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication
text:
  status:
    v: generated
  div: 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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding:
    system:
      v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
    code:
      v: therapeutic-implication
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
derived from:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-fusion-met-alk
  reference:
    v: Observation/gx-genomic-variant-fusion-met-alk
component:
  code:
    coding: https://loinc.org/rdf/51963-7
      system:
        v: http://loinc.org
      code:
        v: 51963-7
  value: CodeableConcept
    coding:
      system:
        v: http://www.nlm.nih.gov/research/umls/rxnorm
      code:
        v: 1535457
      display:
        v: ceritinib
component:
  code:
    coding:
      system:
        v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
      code:
        v: predicted-therapeutic-implication
  value: CodeableConcept
    coding: LA9661-5
      system:
        v: http://loinc.org
      code:
        v: LA9661-5
      display:
        v: Presumed responsive

gx-genomic-therapeutic-implication-crizotinib
type: Observation
id:
  v: gx-genomic-therapeutic-implication-crizotinib
meta:
  profile:
    v: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication
    link: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication
text:
  status:
    v: generated
  div: 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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding:
    system:
      v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
    code:
      v: therapeutic-implication
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
derived from:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-fusion-met-alk
  reference:
    v: Observation/gx-genomic-variant-fusion-met-alk
component:
  code:
    coding: https://loinc.org/rdf/51963-7
      system:
        v: http://loinc.org
      code:
        v: 51963-7
  value: CodeableConcept
    coding:
      system:
        v: http://www.nlm.nih.gov/research/umls/rxnorm
      code:
        v: 1148495
      display:
        v: crizotinib
component:
  code:
    coding:
      system:
        v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
      code:
        v: predicted-therapeutic-implication
  value: CodeableConcept
    coding: LA9661-5
      system:
        v: http://loinc.org
      code:
        v: LA9661-5
      display:
        v: Presumed responsive

gx-genomic-therapeutic-implication-lorlatinib
type: Observation
id:
  v: gx-genomic-therapeutic-implication-lorlatinib
meta:
  profile:
    v: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication
    link: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication
text:
  status:
    v: generated
  div: 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
status:
  v: final
category:
  coding:
    system:
      v: http://terminology.hl7.org/CodeSystem/observation-category
    code:
      v: laboratory
code:
  coding:
    system:
      v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
    code:
      v: therapeutic-implication
subject:
  link: http://hl7.org/fhir/us/mcode/Patient/gx-cancer-patient-adam-anyperson
  reference:
    v: Patient/gx-cancer-patient-adam-anyperson
effective: dateTime
  v: 2019-04-01
performer:
  link: http://hl7.org/fhir/us/mcode/Practitioner/us-core-practitioner-owen-oncologist
  reference:
    v: Practitioner/us-core-practitioner-owen-oncologist
derived from:
  link: http://hl7.org/fhir/us/mcode/Observation/gx-genomic-variant-fusion-met-alk
  reference:
    v: Observation/gx-genomic-variant-fusion-met-alk
component:
  code:
    coding: https://loinc.org/rdf/51963-7
      system:
        v: http://loinc.org
      code:
        v: 51963-7
  value: CodeableConcept
    coding:
      system:
        v: http://www.nlm.nih.gov/research/umls/rxnorm
      code:
        v: 2103164
      display:
        v: lorlatinib
component:
  code:
    coding:
      system:
        v: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
      code:
        v: predicted-therapeutic-implication
  value: CodeableConcept
    coding: LA9661-5
      system:
        v: http://loinc.org
      code:
        v: LA9661-5
      display:
        v: Presumed responsive