HL7.FHIR.UV.GENOMICS-REPORTING\TBD Value Set

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 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

ValueSet: TBD Value Set

Summary

Defining URL:

http://hl7.org/fhir/uv/genomics-reporting/ValueSet/tbd

Version:

1.1.0

Name:

TBDVS

Title:

TBD Value Set

Status:

Active as of 2021-04-13T19:13:37+00:00

Definition:

Value Set for codes yet to be defined in LOINC

Publisher:

HL7 International Clinical Genomics Work 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)

Include all codes defined in http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes

Expansion

This value set contains 21 concepts

Expansion based on ToBeDeterminedCodes ('TbdCodes') v1.1.0 (CodeSystem)

All codes from system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes

Code	Display	Definition
grouper	grouper	A means to bundle several observations such as one would find in a genetics test panel.
effect-transporter-function	effect-transporter-function	Predicted phenotype for drug efficacy through transport mechanism. A single marker interpretation value known to increase or decrease the drug's performance.
effect-medication-efficacy	Medication Efficacy
effect-medication-metabolism	Medication Metabolism
effect-medication-transporter	Medication Transporter Function
effect-high-risk-allele	High Risk Allele
prognostic-implication	Prognostic Implication component	Finding 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-cancer	associated-cancer
associated-therapy	Genomically linked therapy	The non-medication therapy (procedure) associated with this implication.
region-coverage	region-coverage	Given 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-consequence	Molecular Consequence	Annotated changes to sequence features caused by this variant. Terms are from the sequence ontology under SO:0001537.
exact-start-end	Variant exact start and end	The genomic coordinates of the exact genomic range in which the variant resides.
inner-start-end	Variant inner start and end	The genomic coordinates of the inner genomic range in which the variant might reside.
outer-start-end	Variant outer start and end	The genomic coordinates of the outer genomic range in which the variant might reside.
variant-inheritance	Variant inheritance	A quality inhering in a variant by virtue of its origin. The terms are in the sequence ontology under SO:0001762.
diagnostic-implication	Diagnostic Implication	An 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-implication	Therapeutic Implication	An observation linking a genomic finding with a knowledge base, providing potential evidence of an interaction with a specified medication or non-medicinal therapy.
uncallable-regions	Uncallable Regions	Contiguous 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-effect	Functional Effect	The effect of a variant on downstream biological products or pathways (from Sequence Ontology).
conclusion-string	Conclusion text	Clinical conclusion (interpretation) of the observation.
condition-inheritance	Condition Inheritance	The transmission pattern of the condition/phenotype in a pedigree.

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