Name
Required
Extensible
Preferred
Example
Observation
implicitRules
Slices for extension
extension:secondary-finding
extension:body-structure
modifierExtension
status
ObservationStatus
Slices for category
ObservationCategoryCodes
category:labCategory
ObservationCategoryCodes
coding
category:geCategory
ObservationCategoryCodes
coding
code
LOINCCodes
subject
reference
identifier
Slices for value[x]
value[x]:valueCodeableConcept
LOINC Answer List LL1971-2
derivedFrom
Slices for component
component:All Slices
modifierExtension
code
LOINCCodes
component:conclusion-string
modifierExtension
code
LOINCCodes
component:gene-studied
modifierExtension
code
LOINCCodes
value[x]
HUGO Gene Nomenclature Committee Gene Names (HGNC)
component:cytogenetic-location
modifierExtension
code
LOINCCodes
value[x]
component:reference-sequence-assembly
modifierExtension
code
LOINCCodes
value[x]
LOINC Answer List LL1040-6
component:chromosome-identifier
modifierExtension
code
LOINCCodes
value[x]
LOINC Answer List LL2938-0
component:representative-coding-hgvs
modifierExtension
code
LOINCCodes
value[x]
Human Genome Variation Society (HGVS) Nomenclature
component:genomic-hgvs
modifierExtension
code
LOINCCodes
value[x]
Human Genome Variation Society (HGVS) Nomenclature
component:cytogenomic-nomenclature
modifierExtension
code
LOINCCodes
value[x]
component:genomic-ref-seq
modifierExtension
code
LOINCCodes
value[x]
component:representative-protein-ref-seq
modifierExtension
code
LOINCCodes
value[x]
component:representative-transcript-ref-seq
modifierExtension
code
LOINCCodes
value[x]
component:exact-start-end
modifierExtension
code
LOINCCodes
component:inner-start-end
modifierExtension
code
LOINCCodes
component:outer-start-end
modifierExtension
code
LOINCCodes
component:coordinate-system
modifierExtension
code
LOINCCodes
value[x]
LOINC Answer List LL5323-2
component:ref-allele
modifierExtension
code
LOINCCodes
component:alt-allele
modifierExtension
code
LOINCCodes
component:coding-change-type
modifierExtension
code
LOINCCodes
value[x]
DNA Change Type
component:genomic-source-class
modifierExtension
code
LOINCCodes
value[x]
LOINC Answer List LL378-1
component:sample-allelic-frequency
modifierExtension
code
LOINCCodes
component:allelic-read-depth
modifierExtension
code
LOINCCodes
component:allelic-state
modifierExtension
code
LOINCCodes
value[x]
LOINC Answer List LL381-5
component:variant-inheritance
modifierExtension
code
LOINCCodes
value[x]
LOINC Answer List LL5489-1
component:variant-inheritance-basis
modifierExtension
code
LOINCCodes
value[x]
LOINC Answer List LL4050-2
component:variation-code
modifierExtension
code
LOINCCodes
value[x]
component:representative-protein-hgvs
modifierExtension
code
LOINCCodes
value[x]
Human Genome Variation Society (HGVS) Nomenclature
component:copy-number
modifierExtension
code
LOINCCodes
component:variant-confidence-status
modifierExtension
code
LOINCCodes
value[x]
Variant Confidence Status
component:repeat-motif
Slices for extension
extension:repeat-motif-order
modifierExtension
code
LOINCCodes
value[x]
component:repeat-number
Slices for extension
extension:repeat-motif-order
modifierExtension
code
LOINCCodes
value[x]
component:genomicHgvs
modifierExtension
code
LOINCCodes
value[x]
component:genomicRefSeq
modifierExtension
code
LOINCCodes
value[x]
component:representativeCodingHgvs
modifierExtension
code
LOINCCodes
value[x]
component:representativeTranscriptRefSeq
modifierExtension
code
LOINCCodes
value[x]
component:representativeProteinHgvs
modifierExtension
code
LOINCCodes
value[x]
component:representativeProteinRefSeq
modifierExtension
code
LOINCCodes
value[x]
component:referenceSequenceAssembly
modifierExtension
code
LOINCCodes
value[x]
Reference Genome Value Set
component:geneStudied
modifierExtension
code
LOINCCodes
value[x]
component:allelicState
modifierExtension
code
LOINCCodes
value[x]
Zygosity Value Set
component:genomicSourceClass
modifierExtension
code
LOINCCodes
value[x]
Genomic Source Class Value Set
component:codingChangeType
modifierExtension
code
LOINCCodes
value[x]
DNA Change Type Value Set
Documentation for this format