{
  "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.",
  "_filename": "CodeSystem-tbd-codes-cs.json",
  "package_name": "hl7.fhir.uv.genomics-reporting",
  "date": "2023-12-18T22:45:59+00:00",
  "publisher": "HL7 International / Clinical Genomics",
  "jurisdiction": [ {
    "coding": [ {
      "code": "001",
      "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
      "display": "World"
    } ]
  } ],
  "content": "complete",
  "name": "TbdCodesCS",
  "type": null,
  "experimental": "false",
  "resourceType": "CodeSystem",
  "title": "To Be Determined Codes",
  "package_version": "3.0.0-ballot",
  "extension": [ {
    "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
    "valueCode": "cg"
  } ],
  "status": "active",
  "id": "daaa95fa-15e4-499b-a548-f03b878d8002",
  "kind": null,
  "count": 13,
  "url": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
  "concept": [ {
    "code": "associated-therapy",
    "display": "Associated Therapy",
    "definition": "The non-medication therapy (procedure) associated with this implication."
  }, {
    "code": "molecular-consequence",
    "display": "Molecular Consequence",
    "definition": "The calculated or observed effect of a DNA variant on its downstream transcript and, if applicable, ensuing protein sequence."
  }, {
    "code": "feature-consequence",
    "display": "Feature Consequence",
    "definition": "The structural implications of a variant (e.g. the variant disrupts a regulatory region, the variant is an inframe insertion)."
  }, {
    "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. 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": "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."
  }, {
    "code": "repeat-motif",
    "display": "Repeat Expansion Motif",
    "definition": "Nucleotides of a repeat expansion motif."
  }, {
    "code": "repeat-number",
    "display": "Number of Repeat Expansions",
    "definition": "Number of repeats of a repeat expansion."
  }, {
    "code": "biomarker-category",
    "display": "A characterization of a given biomarker observation."
  }, {
    "code": "protein-ref-seq",
    "display": "An identifier for the protein reference sequence."
  } ],
  "caseSensitive": true,
  "version": "3.0.0-ballot",
  "contact": [ {
    "name": "HL7 International / Clinical Genomics",
    "telecom": [ {
      "value": "http://www.hl7.org/Special/committees/clingenomics",
      "system": "url"
    }, {
      "value": "cg@lists.HL7.org",
      "system": "email"
    } ]
  } ]
}