Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 ballot
Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 ballot
Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot 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
Bundle bundle-compound-heterozygote of type transaction
Entry 1 - fullUrl = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d
Resource Observation:
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
subject: Bundle: type = transaction
effective: 2019-03-05
issued: 2019-03-05 16:04:44+0000
performer: Bundle: type = transaction
value: Present
component
code: DNA change (c.HGVS)
value: NM_022787.3:c.769G>A
component
code: Allelic state
value: Heterozygous
Request:
POST Observation
Entry 2 - fullUrl = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e
Resource Observation:
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
subject: Bundle: type = transaction
effective: 2019-03-05
issued: 2019-03-05 16:04:44+0000
performer: Bundle: type = transaction
value: Present
component
code: DNA change (c.HGVS)
value: NM_022787.3:c.53A>G
component
code: Allelic state
value: Heterozygous
Request:
POST Observation
Entry 3 - fullUrl = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a
Resource Observation:
Profile: Genotype
status: Final
category: Laboratory, Genetics
code: Genotype display name
subject: Bundle: type = transaction
effective: 2019-03-05
issued: 2019-03-05 16:04:44+0000
performer: Bundle: type = transaction
value: NM_022787.3(NMNAT1):c.[53A>G];[769G>A] AND Cone-rod dystrophy
hasMember:
Request:
POST Observation
Entry 4 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab
Resource Organization:
name: aTypingLab Inc
alias: aTL
Contacts
Telecom Address ph: 1-800-555-1234(Work) 123 Main St, Sometown, ND 99999(work)
Request:
POST Organization
Entry 5 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac
Resource Patient:
John Storm(official) Male, DoB: 1986-12-31
Request:
POST Patient
IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#4.0.0-ballot based on FHIR 4.0.1. Generated 2025-06-24
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