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
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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
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code: Genomic reference sequence ID
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Request:
POST Observation
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Resource Observation:
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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
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Request:
POST Observation
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Resource Observation:
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code: Genetic variant assessment
subject: Bundle: type = transaction
effective: 2019-03-05
issued: 2019-03-05 16:04:44+0000
performer: Bundle: type = transaction
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Request:
POST Observation
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Resource Observation:
Profile: Variant
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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
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Request:
POST Observation
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Resource Observation:
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code: Genetic variant assessment
subject: Bundle: type = transaction
effective: 2019-03-05
issued: 2019-03-05 16:04:44+0000
performer: Bundle: type = transaction
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Request:
POST Observation
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Resource Observation:
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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
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Request:
POST Observation
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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
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Request:
POST Observation
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Resource Observation:
Profile: Variant
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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
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Request:
POST Observation
Entry 9 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe09
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
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Request:
POST Observation
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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
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Request:
POST Observation
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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
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Request:
POST Observation
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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
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Request:
POST Observation
Entry 13 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe13
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
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Request:
POST Observation
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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
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Request:
POST Observation
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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: Human reference sequence assembly version
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component
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Request:
POST Observation
Entry 16 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe16
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: Human reference sequence assembly version
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component
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component
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Request:
POST Observation
Entry 17 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe17
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: Human reference sequence assembly version
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component
code: Genomic reference sequence ID
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component
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Request:
POST Observation
Entry 18 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe18
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: Human reference sequence assembly version
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component
code: Genomic reference sequence ID
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component
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Request:
POST Observation
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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: Human reference sequence assembly version
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component
code: Genomic reference sequence ID
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component
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Request:
POST Observation
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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
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component
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Request:
POST Observation
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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
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component
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component
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Request:
POST Observation
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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
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Request:
POST Observation
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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
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Request:
POST Observation
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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
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Request:
POST Observation
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Resource Observation:
Profile: Variant
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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
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Request:
POST Observation
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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
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Request:
POST Observation
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Resource Observation:
Profile: Variant
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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
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Request:
POST Observation
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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
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component
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Request:
POST Observation
Entry 29 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe29
Resource Observation:
Profile: Variant
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code: Genetic variant assessment
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effective: 2019-03-05
issued: 2019-03-05 16:04:44+0000
performer: Bundle: type = transaction
value: Present
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Request:
POST Observation
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Resource Observation:
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
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effective: 2019-03-05
issued: 2019-03-05 16:04:44+0000
performer: Bundle: type = transaction
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Request:
POST Observation
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Resource Observation:
Profile: Variant
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category: Laboratory, Genetics
code: Genetic variant assessment
subject: Bundle: type = transaction
effective: 2019-03-05
issued: 2019-03-05 16:04:44+0000
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Request:
POST Observation
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Resource Observation:
Profile: Variant
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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
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POST Observation
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Resource Observation:
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POST Observation
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Resource Observation:
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POST Observation
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Resource Observation:
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POST Observation
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Resource Observation:
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POST Observation
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Resource Observation:
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POST Observation
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Resource Observation:
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POST Observation
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Resource Observation:
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POST Observation
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Resource Observation:
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Request:
POST Observation
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Resource Observation:
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Request:
POST Observation
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Resource Observation:
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POST Observation
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Resource Observation:
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Request:
POST Observation
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Resource Observation:
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Request:
POST Observation
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Resource Observation:
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Request:
POST Observation
Entry 46 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe46
Resource Observation:
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Request:
POST Observation
Entry 47 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe47
Resource Observation:
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Request:
POST Observation
Entry 48 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe48
Resource Observation:
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Request:
POST Observation
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Resource Observation:
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Request:
POST Observation
Entry 50 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe50
Resource Observation:
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Request:
POST Observation
Entry 51 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe51
Resource Observation:
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Request:
POST Observation
Entry 52 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe52
Resource Observation:
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Request:
POST Observation
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Resource Observation:
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Request:
POST Observation
Entry 54 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe54
Resource Observation:
Profile: Variant
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Request:
POST Observation
Entry 55 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe55
Resource Observation:
Profile: Variant
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issued: 2019-03-05 16:04:44+0000
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Request:
POST Observation
Entry 56 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe56
Resource Observation:
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Request:
POST Observation
Entry 57 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe57
Resource Observation:
Profile: Variant
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issued: 2019-03-05 16:04:44+0000
performer: Bundle: type = transaction
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Request:
POST Observation
Entry 58 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe58
Resource Observation:
Profile: Variant
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issued: 2019-03-05 16:04:44+0000
performer: Bundle: type = transaction
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Request:
POST Observation
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Resource Observation:
Profile: Variant
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issued: 2019-03-05 16:04:44+0000
performer: Bundle: type = transaction
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Request:
POST Observation
Entry 60 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe60
Resource Observation:
Profile: Variant
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issued: 2019-03-05 16:04:44+0000
performer: Bundle: type = transaction
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Request:
POST Observation
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Resource Observation:
Profile: Variant
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issued: 2019-03-05 16:04:44+0000
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Request:
POST Observation
Entry 62 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe62
Resource Observation:
Profile: Variant
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issued: 2019-03-05 16:04:44+0000
performer: Bundle: type = transaction
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Request:
POST Observation
Entry 63 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe63
Resource Observation:
Profile: Variant
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issued: 2019-03-05 16:04:44+0000
performer: Bundle: type = transaction
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Request:
POST Observation
Entry 64 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe64
Resource Observation:
Profile: Variant
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issued: 2019-03-05 16:04:44+0000
performer: Bundle: type = transaction
value: Present
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value: GRCh37
component
code: Genomic reference sequence ID
value: NC_000010.10
component
code: Allelic state
value: heterozygous
component
code: Ref nucleotide
value: T
component
code: Alt allele
value: C
component
code: Genomic coord system
value: 1-based character counting
component
code: Genomic allele start-end
value: 96532327-?
Request:
POST Observation
Entry 65 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe65
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: Human reference sequence assembly version
value: GRCh37
component
code: Genomic reference sequence ID
value: NC_000010.10
component
code: Allelic state
value: heterozygous
component
code: Ref nucleotide
value: G
component
code: Alt allele
value: T
component
code: Genomic coord system
value: 1-based character counting
component
code: Genomic allele start-end
value: 96532545-?
Request:
POST Observation
Entry 66 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe66
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: Human reference sequence assembly version
value: GRCh37
component
code: Genomic reference sequence ID
value: NC_000010.10
component
code: Allelic state
value: heterozygous
component
code: Ref nucleotide
value: G
component
code: Alt allele
value: A
component
code: Genomic coord system
value: 1-based character counting
component
code: Genomic allele start-end
value: 96532688-?
Request:
POST Observation
Entry 67 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe67
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: Human reference sequence assembly version
value: GRCh37
component
code: Genomic reference sequence ID
value: NC_000010.10
component
code: Allelic state
value: heterozygous
component
code: Ref nucleotide
value: A
component
code: Alt allele
value: T
component
code: Genomic coord system
value: 1-based character counting
component
code: Genomic allele start-end
value: 96533050-?
Request:
POST Observation
Entry 68 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe68
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: Human reference sequence assembly version
value: GRCh37
component
code: Genomic reference sequence ID
value: NC_000010.10
component
code: Allelic state
value: heterozygous
component
code: Ref nucleotide
value: G
component
code: Alt allele
value: A
component
code: Genomic coord system
value: 1-based character counting
component
code: Genomic allele start-end
value: 96534584-?
Request:
POST Observation
Entry 69 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe69
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: Human reference sequence assembly version
value: GRCh37
component
code: Genomic reference sequence ID
value: NC_000010.10
component
code: Allelic state
value: heterozygous
component
code: Ref nucleotide
value: T
component
code: Alt allele
value: C
component
code: Genomic coord system
value: 1-based character counting
component
code: Genomic allele start-end
value: 96535689-?
Request:
POST Observation
Entry 70 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe70
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: Human reference sequence assembly version
value: GRCh37
component
code: Genomic reference sequence ID
value: NC_000010.10
component
code: Allelic state
value: heterozygous
component
code: Ref nucleotide
value: A
component
code: Alt allele
value: G
component
code: Genomic coord system
value: 1-based character counting
component
code: Genomic allele start-end
value: 96535743-?
Request:
POST Observation
Entry 71 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe71
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: Human reference sequence assembly version
value: GRCh37
component
code: Genomic reference sequence ID
value: NC_000010.10
component
code: Allelic state
value: heterozygous
component
code: Ref nucleotide
value: ATTC
component
code: Alt allele
value: TATT
component
code: Genomic coord system
value: 1-based character counting
component
code: Genomic allele start-end
value: 96536045-?
Request:
POST Observation
Entry 72 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe72
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: Human reference sequence assembly version
value: GRCh37
component
code: Genomic reference sequence ID
value: NC_000010.10
component
code: Allelic state
value: heterozygous
component
code: Ref nucleotide
value: T
component
code: Alt allele
value: A
component
code: Genomic coord system
value: 1-based character counting
component
code: Genomic allele start-end
value: 96536455-?
Request:
POST Observation
Entry 73 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe73
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: Human reference sequence assembly version
value: GRCh37
component
code: Genomic reference sequence ID
value: NC_000010.10
component
code: Allelic state
value: heterozygous
component
code: Ref nucleotide
value: C
component
code: Alt allele
value: T
component
code: Genomic coord system
value: 1-based character counting
component
code: Genomic allele start-end
value: 96536708-?
Request:
POST Observation
Entry 74 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe74
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: Human reference sequence assembly version
value: GRCh37
component
code: Genomic reference sequence ID
value: NC_000010.10
component
code: Allelic state
value: heterozygous
component
code: Ref nucleotide
value: C
component
code: Alt allele
value: T
component
code: Genomic coord system
value: 1-based character counting
component
code: Genomic allele start-end
value: 96537137-?
Request:
POST Observation
Entry 75 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe75
Resource Observation:
Profile: Sequence Phase Relationship
status: Final
category: Laboratory, Genetics
code: Allelic phase
subject: Bundle: type = transaction
effective: 2019-03-05
issued: 2019-03-05 16:04:44+0000
performer: Bundle: type = transaction
value: Cis
derivedFrom:
Request:
POST Observation
Entry 76 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeaa
Resource DiagnosticReport:
Profile: Genomic Report
Genetic analysis report (Genetics)
Report Details
Code Value
Request:
POST DiagnosticReport
Entry 77 - 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 78 - 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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