TBD Codes

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CodeSystem

CodeSystem für noch nicht in LOINC definierte Codes.

Canonical: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs

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Das CodeSystem To Be Determined Codes stammt aus HL7 Genomics Reporting Implementation Guide.

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{
    "resourceType": "CodeSystem",
    "id": "tbd-codes-cs",
    "text": {
        "status": "generated",
        --- We have skipped the narrative for better readability of the resource ---
    },
    "url": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
    "version": "2.0.0",
    "name": "TbdCodesCS",
    "title": "To Be Determined Codes",
    "status": "active",
    "date": "2022-05-09T16:53:07+00:00",
    "publisher": "HL7 Clinical Genomics Working Group",
    "contact":  [
        {
            "name": "HL7 Clinical Genomics Working Group",
            "telecom":  [
                {
                    "system": "url",
                    "value": "http://www.hl7.org/Special/committees/clingenomics"
                },
                {
                    "system": "email",
                    "value": "cg@lists.HL7.org"
                }
            ]
        }
    ],
    "description": "These codes are currently 'TBD' codes. The CG WG plans to request formal LOINC codes to replace these codes as these concepts are validated.",
    "jurisdiction":  [
        {
            "coding":  [
                {
                    "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
                    "code": "001",
                    "display": "World"
                }
            ]
        }
    ],
    "caseSensitive": true,
    "content": "complete",
    "count": 13,
    "concept":  [
        {
            "code": "predicted-therapeutic-implication",
            "display": "Predicted Therapeutic Implication",
            "definition": "A 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."
        },
        {
            "code": "prognostic-implication",
            "display": "Prognostic Implication",
            "definition": "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."
        },
        {
            "code": "associated-therapy",
            "display": "Associated Therapy",
            "definition": "The non-medication therapy (procedure) associated with this implication."
        },
        {
            "code": "region-coverage",
            "display": "Region Coverage",
            "definition": "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."
        },
        {
            "code": "molecular-consequence",
            "display": "Molecular Consequence",
            "definition": "Annotated 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."
        },
        {
            "code": "variant-inheritance",
            "display": "Variant Inheritance",
            "definition": "A quality inhering in a variant by virtue of its origin. The terms are in the sequence ontology under SO:0001762."
        },
        {
            "code": "diagnostic-implication",
            "display": "Diagnostic Implication",
            "definition": "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."
        },
        {
            "code": "therapeutic-implication",
            "display": "Therapeutic Implication",
            "definition": "An observation linking a genomic finding with a knowledge base, providing potential evidence of an interaction with a specified medication or non-medicinal therapy."
        },
        {
            "code": "uncallable-regions",
            "display": "Uncallable Regions",
            "definition": "Contiguous regions where a call was not made. Must be inside the range given by 'ranges examined' in the given reference sequence and coordinate system."
        },
        {
            "code": "functional-effect",
            "display": "Functional Effect",
            "definition": "The effect of a variant on downstream biological products or pathways (from Sequence Ontology)."
        },
        {
            "code": "conclusion-string",
            "display": "Conclusion Text",
            "definition": "Clinical conclusion (interpretation) of the observation."
        },
        {
            "code": "condition-inheritance",
            "display": "Condition Inheritance",
            "definition": "The transmission pattern of the condition/phenotype in a pedigree."
        },
        {
            "code": "variant-confidence-status",
            "display": "Variant Confidence Status",
            "definition": "The confidence of a true positive variant call."
        }
    ]
}

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