Genomics Reporting Implementation Guide (STU1)

This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Example - Complex Variant (unpacked)

Format(s):

Narrative view

Bundle complexVariant-nonHGVS of type transaction

Entry 1 - Full URL = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d

Response:

POST Observation

Resource Observation:

Generated Narrative with Details

meta:

status: final

category: Laboratory (Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)

code: Genetic variant assessment (Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})

value: Present (Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})

Components

-CodeValue[x]
*DNA change (c.HGVS) (Details : {LOINC code '48004-6' = 'DNA change (c.HGVS)', given as 'DNA change (c.HGVS)'})NM_022787.3:c.769G>A (Details : {http://varnomen.hgvs.org code 'null' = 'null', given as 'NM_022787.3:c.769G>A'})

Entry 2 - Full URL = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e

Response:

POST Observation

Resource Observation:

Generated Narrative with Details

meta:

status: final

category: Laboratory (Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)

code: Genetic variant assessment (Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})

value: Present (Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})

Components

-CodeValue[x]
*DNA change (c.HGVS) (Details : {LOINC code '48004-6' = 'DNA change (c.HGVS)', given as 'DNA change (c.HGVS)'})NM_022787.3:c.53A>G (Details : {http://varnomen.hgvs.org code 'null' = 'null', given as 'NM_022787.3:c.53A>G'})

Entry 3 - Full URL = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a

Response:

POST Observation

Resource Observation:

Generated Narrative with Details

meta:

status: final

category: Laboratory (Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)

code: Genetic variant assessment (Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})

value: Present (Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})

hasMember:

  • NM_022787.3:c.53A>G

Components

-CodeValue[x]
*Complex Variant Type (Details : {LOINC code '81263-6' = 'Complex variant type', given as 'Complex Variant Type'})Compound heterozygous (Details : {LOINC code 'LA26217-2' = 'Compound heterozygous', given as 'Compound heterozygous'})