NCPI FHIR Implementation Guide
0.1.0 - ci-build

NCPI FHIR Implementation Guide - Local Development build (v0.1.0). See the Directory of published versions

CodeSystem: ToBeDeterminedCodes ('TbdCodes')

Official URL: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes Version: 0.1.0
Active as of 2020-11-12 Realm: International flag Computable Name: TbdCodes

These codes are currently ‘TBD-LOINC’ codes. The CG WG is requesting formal LOINC codes.

This Code system is referenced in the content logical definition of the following value sets:

This code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes defines the following codes:

CodeDisplayDefinition
grouper grouperA means to bundle several observations such as one would find in a genetics test panel.
mode-of-inheritance mode-of-inheritanceThis is actually LOINC code 79742-3. And the IG will be updated
effect-transporter-function effect-transporter-functionPredicted 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 componentFinding 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 therapyThe non-medication therapy (procedure) associated with this implication.
region-coverage region-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.
functional-annotation functional-annotationAnnotated changes to sequence features caused by this variant. Terms are from the sequence ontology under SO:0001537.
exact-start-end Variant exact start and endThe genomic coordinates of the exact genomic range in which the variant resides.
inner-start-end Variant inner start and endThe genomic coordinates of the inner genomic range in which the variant might reside.
outer-start-end Variant outer start and endThe genomic coordinates of the outer genomic range in which the variant might reside.
variant-inheritance Variant inheritanceA quality inhering in a variant by virtue of its origin. The terms are in the sequence ontology under SO:0001762.
diagnostic-implication Diagnostic 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-implication Therapeutic ImplicationAn observation linking a genomic finding with a knowledge base, providing potential evidence of an interaction with a specified medication or non-medicinal therapy.