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Difference between revisions of "GenomicVariant-Observation FHIR Resource Proposal"
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==Resource Details== | ==Resource Details== | ||
| + | Extension of Observation for support of genetic/genomic DNA variants consistant with the Clinical Genomics DAM and DIM and backwards compatible with the v2.5.1, CCD, and CDA representation of genetic or sequence variant. | ||
| + | |||
===Parent Resource=== | ===Parent Resource=== | ||
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<!--Describe how the current resource will be constrained.--> | <!--Describe how the current resource will be constrained.--> | ||
| − | * | + | * Internationally accepted standards used for clinical reporting of genetic variants |
| − | * | + | ** HGVS Nomenclature |
| + | ** HGNC Gene symbols | ||
| + | ** NCBI Ref Seq, EBI-Ensembl reference sequence, or LRG reference sequence | ||
| + | ** For complete list see the Clinical Genomics DAM | ||
| + | * Qualification of the data using LOINC is recommended but not required | ||
| + | * | ||
====Extensions to be Applied==== | ====Extensions to be Applied==== | ||
Revision as of 14:56, 13 May 2014
This page documents a Pending FHIR Resource Proposal
GeneticVariantObservation
Resource Details
Extension of Observation for support of genetic/genomic DNA variants consistant with the Clinical Genomics DAM and DIM and backwards compatible with the v2.5.1, CCD, and CDA representation of genetic or sequence variant.
Parent Resource
Constraints to be Applied
- Internationally accepted standards used for clinical reporting of genetic variants
- HGVS Nomenclature
- HGNC Gene symbols
- NCBI Ref Seq, EBI-Ensembl reference sequence, or LRG reference sequence
- For complete list see the Clinical Genomics DAM
- Qualification of the data using LOINC is recommended but not required
Extensions to be Applied
- Extension 1
- Extension 2
Example Scenarios
Scope of coverage
Ownership
Owning committee name
Contributing or Reviewing Work Groups
- Work Group Name
- or link
- or "None"
Expected implementations
gForge Users
FHIR Profile Development Project Insight ID
Plans
Timelines
- TargetDateForInternalReview
Balloting Requirements
Choose one:
- Ballot with next FHIR DSTU or Normative Edition
- or Ballot independently as DSTU
- or Realm specific ballot
- or No Ballot
Desired Ballot Date
- PutDesiredBallotDateHere
