Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
Generated Narrative: Bundle bundle-oncology-diagnostic
Bundle bundle-oncology-diagnostic of type transaction
Entry 1 - fullUrl = urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d
Resource Patient:
Generated Narrative: Patient Inline-Instance-for-oncology-diagnostic-1
Carrot John Mr Male, DoB: 1962-12-31 ( 1007)
Links:
- General Practitioner: Bundle: type = transaction
Request:
POST Patient
Entry 2 - fullUrl = urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef
Resource Practitioner:
Generated Narrative: Practitioner Inline-Instance-for-oncology-diagnostic-2
identifier: 4654765876
name: Akerman Philip Prof
address: Castro Valley CA
Request:
POST Practitioner
Entry 3 - fullUrl = urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d
Resource Specimen:
Generated Narrative: Specimen Inline-Instance-for-oncology-diagnostic-3
identifier: 076e1948-2217-11e9-94d8-12e241dc1f66
status: Available
subject: Bundle: type = transaction
Collections
Collector Bundle: type = transaction
Request:
POST Specimen
Entry 4 - fullUrl = urn:uuid:40e85eda-4d31-4bd2-a5a0-c39d63f9824f
Resource Observation:
Generated Narrative: Observation Inline-Instance-for-oncology-diagnostic-4
status: Final
category: Laboratory, A characterization of a given biomarker observation., Genetics
code: Mutations/Megabase [# Ratio] in Tumor
subject: Bundle: type = transaction
effective: 2019-03-05
performer: Bundle: type = transaction
value: 25 Mutations/Megabase (Details: UCUM code1/1000000 = '1/1000000')
specimen: Bundle: type = transaction
Components
Code Value[x] A characterization of a given biomarker observation. molecular sequence adjacent category
Request:
POST Observation
Entry 5 - fullUrl = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d
Resource Observation:
Generated Narrative: Observation Inline-Instance-for-oncology-diagnostic-5
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
subject: Bundle: type = transaction
effective: 2019-03-05
performer: Bundle: type = transaction
value: Present
method: Sequencing
specimen: Bundle: type = transaction
component
code: Human reference sequence assembly version
value: GRCh37
component
code: Genomic DNA change (gHGVS)
value: NC_000007.13:g.140453136A>T
component
code: Discrete genetic variant
value: Clinvar ID 13961
component
code: Amino acid change (pHGVS)
value: NP_004324.2:p.Val600Glu
component
code: Gene studied ID
value: BRAF
Request:
POST Observation
Entry 6 - fullUrl = urn:uuid:1bf9642d-fd1c-4819-8c5d-44fae4bad524
Resource Observation:
Generated Narrative: Observation Inline-Instance-for-oncology-diagnostic-6
Related artifact: No display for RelatedArtifact (type: justification; display: https://pmkb.weill.cornell.edu/therapies/103)
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
subject: Bundle: type = transaction
effective: 2019-03-05
performer: Bundle: type = transaction
method: Computational analysis
specimen: Bundle: type = transaction
derivedFrom: Bundle: type = transaction
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Level of Evidence
value: Very strong evidence pathogenic
component
code: Associated phenotype
value: melanoma
Request:
POST Observation
Entry 7 - fullUrl = urn:uuid:ad7a499b-a43b-4cc8-bf46-cac62d9ecae5
Resource DiagnosticReport:
Generated Narrative: DiagnosticReport Inline-Instance-for-oncology-diagnostic-7
Genetic analysis report (Genetics)
Subject Not done yet When For 2019-03-05 Performer Bundle: type = transaction Report Details
Code Value
Request:
POST DiagnosticReport