TbdCodesCS

To Be Determined Codes

activeGenomics Reporting3.0.0complete13 concepts

These codes are 'TBD' codes, meaning they are important concepts but codes have not been identifed in available code systems. The CG WG anticpates these codes maturing over time. We may remove some codes as we refine the concepts, or identify suitable replacement codes from other code systems. As we approach normative and these concepts are validated, for codes that remain, we plan to request formal LOINC codes to replace these temporary codes.

Metadata

hl7.org/fhir

Canonical URL: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
ID: tbd-codes-cs
Version: 3.0.0
Publisher: HL7 International / Clinical Genomics
Case Sensitive: Yes

Concepts (13)

Code	Display	Definition
`associated-therapy`	Associated Therapy	The non-medication therapy (procedure) associated with this implication.
`molecular-consequence`	Molecular Consequence	The calculated or observed effect of a DNA variant on its downstream transcript and, if applicable, ensuing protein sequence.
`feature-consequence`	Feature Consequence	The structural implications of a variant (e.g. the variant disrupts a regulatory region, the variant is an inframe insertion).
`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. 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 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.
`variant-confidence-status`	Variant Confidence Status	The confidence of a true positive variant call.
`repeat-motif`	Repeat Expansion Motif	Nucleotides of a repeat expansion motif.
`repeat-number`	Number of Repeat Expansions	Number 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.	-