This code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes defines the following codes:
Code | Display | Definition |
grouper | grouper | A means to bundle several observations such as one would find in a genetics test panel. |
mode-of-inheritance | mode-of-inheritance | This is actually LOINC code 79742-3. And the IG will be updated |
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. |
somatic-diagnostic | somatic-diagnostic | Finding of whether a particular somatic genotype/haplotype/variation or combination-thereof supports or opposes the diagnosis of a particular cancer. Example values are: Pathognomonic, Supportive, Argues Against, Rules Out. |
somatic-prognostic | Somatic Prognostic Implication | 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. |
somatic-prognostic-medication | somatic-prognostic-medication | The medication or medication class whose implication on the cancer is being predicted. (Same as somatic-predictive-medication). |
somatic-prognostic-treatment | somatic-prognostic-treatment | The non-medication therapy (procedure) whose implication on the cancer outcome is being predicted. E.g. altered diet, radiation therapy, surgery, etc. |
somatic-predictive | Somatic variant predicted effect on Cancer medication | Finding of whether a particular somatic genotype/haplotype/variation or combination-thereof predicts an impact on medication efficay or prediction of an adverse event caused by a medication. Example values are: Resistant, Responsive, Not-Responsive, Sensitive, Reduced-Sensitivity, Adverse Response. |
somatic-predictive-medication | somatic-predictive-medication | The medication or medication class whose implication on the cancer is being predicted. |
associated-cancer | associated-cancer | Associated Cancer |
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. |
functional-annotation | functional-annotation | 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 |