Clinical Genomics Resource Incubator
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Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions

CodeSystem: Molecular Definition Representation Focus (Experimental)

Official URL: http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-representation-focus Version: 0.1.0-ci-build
Standards status: Informative Draft as of 2025-01-30 Maturity Level: 1 Computable Name: MolecularDefinitionRepresentationFocus
Other Identifiers: OID:2.16.840.1.113883.4.642.4.2050

The domain concept that is the focus of the representation in a MolecularDefinition. This element is used to disambiguate the representations of different alleles or states at a given location.

This Code system is referenced in the definition of the following value sets:

Last updated: 2025-01-30 00:00:00+0000

Profile: Shareable CodeSystem

This case-sensitive code system http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-representation-focus defines the following codes:

CodeDisplayDefinition
allele-state Allele State The representation defines the state of an allele at a genomic location.
context-state Context State The representation defines the state of the genomic sequence context or background for the allele.
reference-state Reference State The representation defines the reference state of the sequence at a genomic location.
alternative-state Alternative State The representation defines an alternative state of the sequence at a genomic location.

Description of the above table(s).