Molecular Consequence

ValueSet

Veränderungen der strukturellen Merkmale einer Sequenz aufgrund der beobachteten Variante.

Canonical: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-consequence-vs

Das ValueSet Molecular Consequence stammt aus HL7 Genomics Reporting Implementation Guide.

ValueSet 'MolecularConsequenceVS'

Version3.0.0
Published byHL7 International / Clinical Genomics
StatusActive (since 2024-12-12T20:43:36+00:00)
ExperimentalFalse

The calculated or observed effect of a variant on its downstream transcript and, if applicable, ensuing protein sequence.

Contact Information

HL7 International / Clinical Genomics
Website: http://www.hl7.org/Special/com...
Email: cg@lists.HL7.org

This value set includes codes from the following code systems:

  • Include codes from SO where concept IsA SO:0001537