StructureDefinition-rarelink-genetic-variant-tx-key

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
Observation.status	required	Fixed Value: final `http://hl7.org/fhir/ValueSet/observation-status\|4.0.1` from the FHIR Standard
Observation.category	preferred	ObservationCategoryCodes `http://hl7.org/fhir/ValueSet/observation-category` from the FHIR Standard
Observation.category:labCategory	preferred	ObservationCategoryCodes `http://hl7.org/fhir/ValueSet/observation-category` from the FHIR Standard
Observation.category:geCategory	preferred	ObservationCategoryCodes `http://hl7.org/fhir/ValueSet/observation-category` from the FHIR Standard
Observation.code	example	Pattern: LOINC Code 69548-6 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.value[x]:valueCodeableConcept	required	LOINC LL1971-2 `http://loinc.org/vs/LL1971-2`
Observation.component.code	example	LOINCCodes (a valid code from LOINC) `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:conclusion-string.code	example	Pattern: conclusion-string `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:gene-studied.code	example	Pattern: LOINC Code 48018-6 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:gene-studied.value[x]	extensible	HGNCVS `http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs`
Observation.component:cytogenetic-location.code	example	Pattern: LOINC Code 48001-2 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:reference-sequence-assembly.code	example	Pattern: LOINC Code 62374-4 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:reference-sequence-assembly.value[x]	extensible	LOINC LL1040-6 `http://loinc.org/vs/LL1040-6`
Observation.component:chromosome-identifier.code	example	Pattern: LOINC Code 48000-4 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:chromosome-identifier.value[x]	required	LOINC LL2938-0 `http://loinc.org/vs/LL2938-0`
Observation.component:representative-coding-hgvs.code	example	Pattern: LOINC Code 48004-6 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:representative-coding-hgvs.value[x]	required	HGVSVS `http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs`
Observation.component:genomic-hgvs.code	example	Pattern: LOINC Code 81290-9 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:genomic-hgvs.value[x]	required	HGVSVS `http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs`
Observation.component:cytogenomic-nomenclature.code	example	Pattern: LOINC Code 81291-7 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:cytogenomic-nomenclature.value[x]	example
Observation.component:genomic-ref-seq.code	example	Pattern: LOINC Code 48013-7 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:genomic-ref-seq.value[x]	example
Observation.component:representative-protein-ref-seq.code	example	Pattern: protein-ref-seq `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:representative-protein-ref-seq.value[x]	example
Observation.component:representative-transcript-ref-seq.code	example	Pattern: LOINC Code 51958-7 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:representative-transcript-ref-seq.value[x]	example
Observation.component:exact-start-end.code	example	Pattern: LOINC Code 81254-5 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:inner-start-end.code	example	Pattern: LOINC Code 81302-2 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:outer-start-end.code	example	Pattern: LOINC Code 81301-4 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:coordinate-system.code	example	Pattern: LOINC Code 92822-6 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:coordinate-system.value[x]	extensible	LOINC LL5323-2 `http://loinc.org/vs/LL5323-2`
Observation.component:ref-allele.code	example	Pattern: LOINC Code 69547-8 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:alt-allele.code	example	Pattern: LOINC Code 69551-0 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:coding-change-type.code	example	Pattern: LOINC Code 48019-4 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:coding-change-type.value[x]	extensible	DNAChangeTypeVS `http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs`
Observation.component:genomic-source-class.code	example	Pattern: LOINC Code 48002-0 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:genomic-source-class.value[x]	extensible	LOINC LL378-1 `http://loinc.org/vs/LL378-1`
Observation.component:sample-allelic-frequency.code	example	Pattern: LOINC Code 81258-6 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:allelic-read-depth.code	example	Pattern: LOINC Code 82121-5 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:allelic-state.code	example	Pattern: LOINC Code 53034-5 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:allelic-state.value[x]	extensible	LOINC LL381-5 `http://loinc.org/vs/LL381-5`
Observation.component:variant-inheritance.code	example	Pattern: LOINC Code 94186-4 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:variant-inheritance.value[x]	extensible	LOINC LL5489-1 `http://loinc.org/vs/LL5489-1`
Observation.component:variant-inheritance-basis.code	example	Pattern: LOINC Code 82309-6 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:variant-inheritance-basis.value[x]	extensible	LOINC LL4050-2 `http://loinc.org/vs/LL4050-2`
Observation.component:variation-code.code	example	Pattern: LOINC Code 81252-9 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:variation-code.value[x]	example
Observation.component:representative-protein-hgvs.code	example	Pattern: LOINC Code 48005-3 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:representative-protein-hgvs.value[x]	required	HGVSVS `http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs`
Observation.component:copy-number.code	example	Pattern: LOINC Code 82155-3 `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:variant-confidence-status.code	example	Pattern: variant-confidence-status `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:variant-confidence-status.value[x]	required	VariantConfidenceStatusVS `http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs`
Observation.component:repeat-motif.code	example	Pattern: repeat-motif `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:repeat-number.code	example	Pattern: repeat-number `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:genomicHgvs.code	example	LOINCCodes (a valid code from LOINC) `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:genomicRefSeq.code	example	LOINCCodes (a valid code from LOINC) `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:representativeCodingHgvs.code	example	LOINCCodes (a valid code from LOINC) `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:representativeTranscriptRefSeq.code	example	LOINCCodes (a valid code from LOINC) `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:representativeProteinHgvs.code	example	LOINCCodes (a valid code from LOINC) `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:representativeProteinRefSeq.code	example	LOINCCodes (a valid code from LOINC) `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:referenceSequenceAssembly.code	example	LOINCCodes (a valid code from LOINC) `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:referenceSequenceAssembly.value[x]	required	ReferenceGenomeVS `https://github.com/BIH-CEI/RareLink/ValueSet/reference-genome-vs` from this IG
Observation.component:geneStudied.code	example	LOINCCodes (a valid code from LOINC) `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:allelicState.code	example	LOINCCodes (a valid code from LOINC) `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:allelicState.value[x]	extensible	ZygosityVS `https://github.com/BIH-CEI/RareLink/ValueSet/zygosity-vs` from this IG
Observation.component:genomicSourceClass.code	example	LOINCCodes (a valid code from LOINC) `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:genomicSourceClass.value[x]	required	GenomicSourceClassVS `https://github.com/BIH-CEI/RareLink/ValueSet/genomic-source-class-vs` from this IG
Observation.component:codingChangeType.code	example	LOINCCodes (a valid code from LOINC) `http://hl7.org/fhir/ValueSet/observation-codes` from the FHIR Standard
Observation.component:codingChangeType.value[x]	extensible	DNAChangeTypeVS `https://github.com/BIH-CEI/RareLink/ValueSet/dna-change-type-vs` from this IG