Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

CodeSystem: To Be Determined Codes

Official URL: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs Version: 3.0.0-ballot
Active as of 2023-12-18 Computable Name: TbdCodesCS

These codes are currently ‘TBD’ codes. The CG WG plans to request formal LOINC codes to replace these codes as these concepts are validated.

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

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

CodeDisplayDefinition
associated-therapy Associated TherapyThe non-medication therapy (procedure) associated with this implication.
molecular-consequence Molecular ConsequenceThe calculated or observed effect of a DNA variant on its downstream transcript and, if applicable, ensuing protein sequence.
feature-consequence Feature ConsequenceThe structural implications of a variant (e.g. the variant disrupts a regulatory region, the variant is an inframe insertion).
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. 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.
functional-effect Functional EffectThe effect of a variant on downstream biological products or pathways (from Sequence Ontology).
conclusion-string Conclusion TextClinical conclusion (interpretation) of the observation.
condition-inheritance Condition InheritanceThe transmission pattern of the condition/phenotype in a pedigree.
variant-confidence-status Variant Confidence StatusThe confidence of a true positive variant call.
repeat-motif Repeat Expansion MotifNucleotides of a repeat expansion motif.
repeat-number Number of Repeat ExpansionsNumber of repeats of a repeat expansion.
biomarker-category A characterization of a given biomarker observation.
protein-ref-seq An identifier for the protein reference sequence.