Genomics Reporting Implementation Guide (STU1)

This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Sequence Phase Relationship

Format(s):

Narrative view

seq-phase-relationship

Sequence Phase Relationship Types

This code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/seq-phase-relationship defines the following codes:

CodeDisplayDefinition
Cis CisPhase is in cis (same chromosome)
Trans TransPhase is in trans (different chromosomes)
Indeterminate IndeterminatePhase is unable to be determined
Unknown UnknownPhase is unknown