Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

ValueSet: To Be Determined Value Set

Summary

Defining URL:http://hl7.org/fhir/uv/genomics-reporting/ValueSet/tbd-codes-vs
Version:2.0.0
Name:TBDCodesVS
Title:To Be Determined Value Set
Status:Active as of 2022-05-09 04:53:07+0000
Definition:

Value Set for codes yet to be defined in LOINC

Publisher:HL7 Clinical Genomics Working Group
Source Resource:XML / JSON / Turtle

References

This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

Logical Definition (CLD)

 

Expansion

This value set contains 13 concepts

Expansion based on To Be Determined Codes v2.0.0 (CodeSystem)

All codes in this table are from the system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs

CodeDisplayDefinition
  predicted-therapeutic-implicationPredicted Therapeutic ImplicationA predicted ramification based on the presence of associated molecular finding(s). Ramifications may include alterations in drug metabolism (or pharmacokinetics) that determine the concentration of the drug, prodrug, and/or break-down products over time; alterations in drug efficacy (or pharmacodynamics) that determine how effective a drug is at a given concentration; alterations that alter the risk of adverse drug events, or other types of implications that indicate altered responsiveness to other types of therapies.
  prognostic-implicationPrognostic ImplicationFinding of whether a particular somatic genotype/haplotype/variation or combination-thereof predicts a particular outcome for the specified cancer - either on its own or in conjunction with one or more interventions.
  associated-therapyAssociated TherapyThe non-medication therapy (procedure) associated with this implication.
  region-coverageRegion CoverageGiven as a number between 0 and 100. Mean mapped read depth. Obtained by counting total number of mapped reads and divided by the number of bases in the region sequence.
  molecular-consequenceMolecular ConsequenceAnnotated changes to sequence features caused by this variant. Terms are from the sequence ontology under SO:0001537. The calculated or observed effect of a variant on its downstream transcript and, if applicable, ensuing protein sequence.
  variant-inheritanceVariant InheritanceA quality inhering in a variant by virtue of its origin. The terms are in the sequence ontology under SO:0001762.
  diagnostic-implicationDiagnostic ImplicationAn observation linking a genomic finding with a knowledge base, providing context that may aid in diagnosing a patient with a particular phenotype or condition.
  therapeutic-implicationTherapeutic ImplicationAn observation linking a genomic finding with a knowledge base, providing potential evidence of an interaction with a specified medication or non-medicinal therapy.
  uncallable-regionsUncallable RegionsContiguous regions where a call was not made. Must be inside the range given by 'ranges examined' in the given reference sequence and coordinate system.
  functional-effectFunctional EffectThe effect of a variant on downstream biological products or pathways (from Sequence Ontology).
  conclusion-stringConclusion TextClinical conclusion (interpretation) of the observation.
  condition-inheritanceCondition InheritanceThe transmission pattern of the condition/phenotype in a pedigree.
  variant-confidence-statusVariant Confidence StatusThe confidence of a true positive variant call.

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
Source The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code