MII IG Modul Molekulargenetischer Befundbericht v2026
TBD Codes
CodeSystem
CodeSystem für noch nicht in LOINC definierte Codes.
Canonical: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
Das CodeSystem To Be Determined Codes stammt aus HL7 Genomics Reporting Implementation Guide.
Concepts
This code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs defines the following codes:
{
--- We have skipped the narrative for better readability of the resource ---
},
],
{
{
},
{
}
]
}
],
"description": "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.",
{
]
}
],
{
},
{
"definition": "The calculated or observed effect of a DNA variant on its downstream transcript and, if applicable, ensuing protein sequence."
},
{
"definition": "The structural implications of a variant (e.g. the variant disrupts a regulatory region, the variant is an inframe insertion)."
},
{
"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."
},
{
"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."
},
{
"definition": "The effect of a variant on downstream biological products or pathways (from Sequence Ontology)."
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
]
}