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current systemAction Itemcurrent codecurrent displaycurrent definitiondefinition sourceused in the IGcomment
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http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-csShould be "merged" with therapeutic-implication. Use therapeutic-implication for Obs.code and Obs.component.codepredicted-therapeutic-implicationPredicted Therapeutic ImplicationA predicted ramification based on the presence of associated molecular finding(s). 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.http://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-therapeutic-implication.htmlcomponent:predicted-therapeutic-implication
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http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-csremove prognostic implication from: http://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-implication.htmlprognostic-implicationPrognostic ImplicationFinding 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.
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http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs(Merge: component:therapy-assessed and therapy-assesed extension,) ask LOINC for a code
use-case: component.value can't be a reference
associated-therapyAssociated TherapyThe non-medication therapy (procedure) associated with this implication.
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http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-csask for use-cases, need examples, if still needed, do we need this & allelic read depth(LOINC code needs better definition) -> request LOINC Coderegion-coverageRegion 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.
Definition in IG: When sequencing, what % of the region was covered.
allelic read depth defintion in LRI: Specifies the number of reads that identified the allele in
question whether it consists of one or a small sequence
of contiguous nucleotides. Different methods and
purposes require different numbers of reads to be
acceptable. Often >400, sometimes as few as 2-4
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http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-csrequest LOINC codemolecular-consequenceMolecular ConsequenceAnnotated changes to sequence features caused by this variant. Terms are from the sequence ontology under SO:0001537. The calculated or observed effect of a variant on its downstream transcript and, if applicable, ensuing protein sequence.
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http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-csrequest LOINC code, Discussion: add Definition from LRI to: 82120-7 variant-inheritanceVariant InheritanceA quality inhering in a variant by virtue of its origin. The terms are in the sequence ontology under SO:0001762.
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http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-csrequest LOINC codediagnostic-implicationDiagnostic 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.
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http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-csrequest LOINC codetherapeutic-implicationTherapeutic ImplicationAn observation linking a genomic finding with a knowledge base, providing potential evidence of an interaction with a specified medication or non-medicinal therapy.
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http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-csrequest LOINC code ("opposite" of 51959-5)uncallable-regionsUncallable RegionsContiguous regions where a call was not made. Must be inside the range given by 'ranges examined' in the given reference sequence and coordinate system.
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http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-csrequest Loinc code (inlclude reference to SO:0001536)functional-effectFunctional EffectThe effect of a variant on downstream biological products or pathways (from Sequence Ontology).
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http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-csrequest LOINC codeconclusion-stringConclusion TextClinical conclusion (interpretation) of the observation.
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http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-csrequest LOINC code, also mention https://loinc.org/79742-3/condition-inheritanceCondition InheritanceThe transmission pattern of the condition/phenotype in a pedigree.
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http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-csrequest LOINC codevariant-confidence-statusVariant Confidence StatusThe confidence of a true positive variant call.
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http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-csrequest LOINC codeprotein-ref-seqProtein Reference SequenceA comprehensive, integrated, non-redundant, well-annotated set of reference sequences for proteins. http://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-variant.html
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https://loinc.org/LL2938-0/
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