Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot
Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot
This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions
Bundle bundle-sequence-phase-relation-CYP2C19 of type transaction
Entry 1 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe60
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca8252"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96527334-?
Entry 2 - fullUrl = urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe01
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca82e4"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96527722-?
Entry 3 - fullUrl = urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe02
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "sid-5c7e9e1ca8a29"
Profile: Sequence Phase Relationship
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Allelic phase (LOINC#82120-7)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Cis (Sequence Phase Relationship Codes#Cis)
derivedFrom:
Entry 4 - fullUrl = urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe03
Request:
POST DiagnosticReport
Resource DiagnosticReport:
Genetic analysis report (Genetics)
Report Details
Code Value When For Reported Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Allelic phase Cis 2019-03-05 2019-03-05 16:04:44+0000
Entry 5 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab
Request:
POST Organization
Resource Organization:
Generated Narrative: Organization
Resource Organization "performingLab"
name: aTypingLab Inc
alias: aTL
Contacts
Telecom Address ph: 1-800-555-1234(WORK) 123 Main St, Sometown, ND 99999(WORK)
Entry 6 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac
Request:
POST Patient
Resource Patient:
John Storm(OFFICIAL) Male, DoB: 1986-12-31
IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.0-ballot based on FHIR 4.0.1. Generated 2023-12-18
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