Profile NameCategoryCodeTime TypesValue TypesMethod
rarelink-diagnostic-implicationlaboratory, GEdiagnostic-implication, diagnostic-implication(all)
  conclusion-stringconclusion-stringstring
  evidence-level93044-6CodeableConcept
  clinical-significance53037-8CodeableConcept
  predicted-phenotype81259-4CodeableConcept
  mode-of-inheritancecondition-inheritanceCodeableConcept
  evidenceLevelCodeableConcept93044-6
  clinicalSignificanceCodeableConcept53037-8
  predictedPhenotypeCodeableConcept81259-4
rarelink-genetic-variantlaboratory, GE69548-6, 69548-6(all)(all)
  conclusion-stringconclusion-stringstring
  gene-studied48018-6CodeableConcept
  cytogenetic-location48001-2CodeableConcept
  reference-sequence-assembly62374-4CodeableConcept
  chromosome-identifier48000-4CodeableConcept
  representative-coding-hgvs48004-6CodeableConcept
  genomic-hgvs81290-9CodeableConcept
  cytogenomic-nomenclature81291-7CodeableConcept
  genomic-ref-seq48013-7CodeableConcept
  representative-protein-ref-seqprotein-ref-seqCodeableConcept
  representative-transcript-ref-seq51958-7CodeableConcept
  exact-start-end81254-5Range
  inner-start-end81302-2Range
  outer-start-end81301-4Range
  coordinate-system92822-6CodeableConcept
  ref-allele69547-8string
  alt-allele69551-0string
  coding-change-type48019-4CodeableConcept
  genomic-source-class48002-0CodeableConcept
  sample-allelic-frequency81258-6Quantity
  allelic-read-depth82121-5Quantity
  allelic-state53034-5CodeableConcept
  variant-inheritance94186-4CodeableConcept
  variant-inheritance-basis82309-6CodeableConcept
  variation-code81252-9CodeableConcept
  representative-protein-hgvs48005-3CodeableConcept
  copy-number82155-3Quantity | Range
  variant-confidence-statusvariant-confidence-statusCodeableConcept
  repeat-motifrepeat-motifstring
  repeat-numberrepeat-numberQuantity
  genomicHgvsCodeableConcept81290-9
  genomicRefSeqCodeableConcept48013-7
  representativeCodingHgvsCodeableConcept48004-6
  representativeTranscriptRefSeqCodeableConcept51958-7
  representativeProteinHgvsCodeableConcept48005-3
  representativeProteinRefSeqCodeableConceptprotein-ref-seq
  referenceSequenceAssemblyCodeableConcept62374-4
  geneStudiedCodeableConcept48018-6
  allelicStateCodeableConcept53034-5
  genomicSourceClassCodeableConcept48002-0
  codingChangeTypeCodeableConcept48019-4
rarelink-ips-measurement-laboratoryimagingpreferred VS Results Radiology Observation - IPS S dateTime | Period(all)
  observationTextstring
  observationCodeCodeableConcept
  numericQuantityMeasurementQuantity
  numericRangeMeasurementRange
  numericRatioMeasurementRatio
  numericSampledDataMeasurementSampledData
rarelink-ips-measurement-radiologyimaging, imagingpreferred VS Results Radiology Observation - IPS S dateTime | Period(all)
  observationTextstring
  observationCodeCodeableConcept
  numericQuantityMeasurementQuantity
  numericRangeMeasurementRange
  numericRatioMeasurementRatio
  numericSampledDataMeasurementSampledData
rarelink-karyotypic-sex1296886006(all)CodeableConcept
rarelink-observation-age-category105727008(all)(all)
rarelink-observation-gestation-at-birth412726003(all)(all)
  length_of_gestation_in_weeksQuantity412726003
  length_of_gestation_in_daysQuantity412726003
rarelink-observation-measurements-othersexample VS LOINC Codes(all)(all)
rarelink-observation-vital-signsvital-signsrequired VS Vital Signs(all)(all)