GenomicVariant

Genomic Variant Profile

activemCODE (Oncology)4.0.0resource50 key elements

Details about a set of changes in the tested sample compared to a reference sequence. The term variant can be used to describe an alteration that may be benign, pathogenic, or of unknown significance. The term variant is increasingly being used in place of the term mutation. Variants can be computed relative to reference sequence assembly from which it was identified.

Metadata

hl7.org/fhir
Canonical URL
http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
ID
mcode-genomic-variant
Type
Base Definition
variant
Derivation
constraint
Mandatory and Must-Support Elements

Elements with cardinality > 0 or marked as Must Support (S)

PathCard.TypeFlagsDescription
status
S
category
S
code
S
subject
Reference
S
effective[x]
S
:effectiveDateTime0..1
dateTime
S
value[x]
S
dataAbsentReason
S
method
S
specimen
Reference
S
component
S
:gene-studied
S
component.code
S
component.value[x]
S
:cytogenetic-location
S
component.code
S
component.value[x]
S
:genomic-hgvs
S
component.code
S
component.value[x]
S
:cytogenomic-nomenclature
S
component.code
S
component.value[x]
S
:coding-change-type
S
component.code
S
component.value[x]
S
:genomic-source-class
S
component.code
S
component.value[x]
S
:sample-allelic-frequency
S
component.code
S
component.value[x]
S
:allelic-state
S
component.code
S
component.value[x]
S
:variation-code
S
component.code
S
component.value[x]
S
:protein-hgvs
S
component.code
S
component.value[x]
S
:amino-acid-change-type
S
component.code
S
component.value[x]
S
:molecular-consequence
S
component.code
S
component.value[x]
S
:copy-number
S
component.code
S
component.value[x]
S