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-compound-heterozygote of type transaction
Entry 1 - fullUrl = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "Inline-Instance-for-compound-heterozygote-1"
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: DNA change (c.HGVS) (LOINC#48004-6)
value: NM_022787.3:c.769G>A (Human Genome Variation Society nomenclature#NM_022787.3:c.769G>A)
component
code: Allelic state (LOINC#53034-5)
value: Heterozygous (LOINC#LA6706-1)
Entry 2 - fullUrl = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "Inline-Instance-for-compound-heterozygote-2"
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: DNA change (c.HGVS) (LOINC#48004-6)
value: NM_022787.3:c.53A>G (Human Genome Variation Society nomenclature#NM_022787.3:c.53A>G)
component
code: Allelic state (LOINC#53034-5)
value: Heterozygous (LOINC#LA6706-1)
Entry 3 - fullUrl = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "Inline-Instance-for-compound-heterozygote-3"
Profile: Genotype
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genotype display name (LOINC#84413-4)
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: NM_022787.3(NMNAT1):c.[53A>G];[769G>A] AND Cone-rod dystrophy (ClinVar Variant ID#RCV000664188.1)
hasMember:
Entry 4 - 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 5 - 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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