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'

Version2.0.0
Published byHL7 Clinical Genomics Working Group
StatusActive (since 2022-05-09T16:53:07+00:00)

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

Contact Information

HL7 Clinical Genomics Working Group

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 http://sequenceontology.org where concept IsA SO:0001537