| Package | hl7.fhir.us.mcode |
| Type | StructureDefinition |
| Id | Id |
| FHIR Version | R4 |
| Source | http://hl7.org/fhir/us/mcode/https://build.fhir.org/ig/HL7/fhir-mCODE-ig/StructureDefinition-mcode-genomic-variant.html |
| Url | http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant |
| Version | 4.0.0-ballot |
| Status | active |
| Date | 2024-04-09T21:21:25+00:00 |
| Name | GenomicVariant |
| Title | Genomic Variant Profile |
| Experimental | False |
| Realm | us |
| Authority | hl7 |
| Description | 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. |
| Type | Observation |
| Kind | resource |
| StructureDefinition | |
mcode-genomics-report  | Genomics Report Profile |
| StructureDefinition | |
| mcode-cancer-patient | Cancer Patient Profile |
| mcode-human-specimen | Human Specimen Profile |
| http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant | Variant |
Note: links and images are rebased to the (stated) source
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
  Observation | 0..* | Variant | Variant | |
  status | S | 1..1 | code | registered | preliminary | final | amended + |
| category | S | 1..* | CodeableConcept | Classification of type of observation |
 category:labCategory | 1..1 | CodeableConcept | Classification of type of observation Required Pattern: At least the following | |
   coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
 system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |
 code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |
 coding | 1..1 | Coding | Code defined by a terminology system | |
| code | S | 1..1 | CodeableConcept | 69548-6 |
 subject | S | 0..1 | Reference(Cancer Patient Profile) | Who and/or what the observation is about |
 Slices for effective[x] | S | 0..1 | dateTime, Period, Timing, instant | Clinically relevant time/time-period for observation Slice: Unordered, Open by type:$this |
 effective[x]:effectiveDateTime | S | 0..1 | dateTime | Clinically relevant time/time-period for observation |
| value[x] | S | 0..1 | CodeableConcept | Actual result |
| dataAbsentReason | S | 0..1 | CodeableConcept | Why the result is missing |
| method | S | 0..1 | CodeableConcept | Sequencing | SNP array | PCR | Computational analysis | ... |
| specimen | S | 0..1 | Reference(Human Specimen Profile) | Specimen used for this observation |
| referenceRange | 0..* | BackboneElement | Not used in this profile | |
| hasMember | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Not used in this profile | |
| component | S | 0..* | BackboneElement | Component results |
| component:gene-studied | S | 0..* | BackboneElement | Gene Studied |
| code | S | 1..1 | CodeableConcept | 48018-6 |
| value[x] | S | 1..1 | CodeableConcept | The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. |
| component:cytogenetic-location | S | 0..* | BackboneElement | Cytogenetic (Chromosome) Location |
| code | S | 1..1 | CodeableConcept | 48001-2 |
| value[x] | S | 1..1 | CodeableConcept | Example: 1q21.1 |
| component:genomic-hgvs | S | 0..1 | BackboneElement | Genomic (gDNA) Change - gHGVS |
| code | S | 1..1 | CodeableConcept | 81290-9 |
| value[x] | S | 1..1 | CodeableConcept | A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup |
| component:cytogenomic-nomenclature | S | 0..1 | BackboneElement | Cytogenomic Nomenclature (ISCN) |
| code | S | 1..1 | CodeableConcept | 81291-7 |
| value[x] | S | 1..1 | CodeableConcept | Actual component result |
| component:coding-change-type | S | 0..1 | BackboneElement | Coding DNA Change Type |
| code | S | 1..1 | CodeableConcept | 48019-4 |
| value[x] | S | 1..1 | CodeableConcept | deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) |
| component:genomic-source-class | S | 0..1 | BackboneElement | Genomic Source Class |
| code | S | 1..1 | CodeableConcept | 48002-0 |
| value[x] | S | 1..1 | CodeableConcept | Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo |
| component:sample-allelic-frequency | S | 0..1 | BackboneElement | Sample Allelic Frequency |
| code | S | 1..1 | CodeableConcept | 81258-6 |
| value[x] | S | 0..1 | Quantity | Relative frequency in the sample |
| component:allelic-state | S | 0..1 | BackboneElement | Allelic State |
| code | S | 1..1 | CodeableConcept | 53034-5 |
| value[x] | S | 1..1 | CodeableConcept | Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous |
| component:variation-code | S | 0..* | BackboneElement | Variation Code |
| code | S | 1..1 | CodeableConcept | 81252-9 |
| value[x] | S | 1..1 | CodeableConcept | ClinVar ID or similar |
| component:protein-hgvs | S | 0..1 | BackboneElement | Protein (Amino Acid) Change - pHGVS |
| code | S | 1..1 | CodeableConcept | 48005-3 |
| value[x] | S | 1..1 | CodeableConcept | A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) |
| component:amino-acid-change-type | S | 0..1 | BackboneElement | Amino Acid Change Type |
| code | S | 1..1 | CodeableConcept | 48006-1 |
| value[x] | S | 1..1 | CodeableConcept | Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent |
| component:molecular-consequence | S | 0..1 | BackboneElement | Molecular Consequence |
| code | S | 1..1 | CodeableConcept | molecular-consequence |
| value[x] | S | 1..1 | CodeableConcept | stop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many) |
| component:copy-number | S | 0..1 | BackboneElement | Genomic Structural Variant Copy Number |
 code | S | 1..1 | CodeableConcept | 82155-3 |
| value[x] | S | 0..1 | Quantity | Actual component result |
| Documentation for this format | ||||
FHIR{
"resourceType" : "StructureDefinition",
"id" : "mcode-genomic-variant",
"text" : {
"status" : "extensions",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><table border=\"0\" cellpadding=\"0\" cellspacing=\"0\" style=\"border: 0px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top;\"><tr style=\"border: 1px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top\"><th style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views\" title=\"The logical name of the element\">Name</a></th><th style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views\" title=\"Information about the use of the element\">Flags</a></th><th style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views\" title=\"Minimum and Maximum # of times the the element can appear in the instance\">Card.</a></th><th style=\"width: 100px\" class=\"hierarchy\"><a href=\"https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views\" title=\"Reference to the type of the element\">Type</a></th><th style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views\" title=\"Additional information about the element\">Description & Constraints</a><span style=\"float: right\"><a href=\"https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views\" title=\"Legend for this format\"><img src=\"data:image/png;base64,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\" alt=\"doco\" style=\"background-color: inherit\"/></a></span></th></tr><tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_resource.png\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Resource\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation\">Observation</a><a name=\"Observation\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">*</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU2/StructureDefinition-variant.html\">Variant</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Variant</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.status\">status</a><a name=\"Observation.status\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#code\">code</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">registered | preliminary | final | amended +</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.category\">category</a><a name=\"Observation.category\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">*</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Classification of type of observation</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck15.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_slice_item.png\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Slice Item\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.category:labCategory\" title=\"Slice labCategory\">category:labCategory</a><a name=\"Observation.category\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Classification of type of observation</span><br/><span style=\"font-weight:bold\">Required Pattern: </span><span style=\"color: darkgreen\">At least the following</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck151.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_fixed.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Fixed Value\" class=\"hierarchy\"/> <a href=\"http://hl7.org/fhir/R4/datatypes-definitions.html#CodeableConcept.coding\">coding</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">1..*</td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#Coding\">Coding</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Code defined by a terminology system<br/><span style=\"font-weight: bold\">Fixed Value: </span><span style=\"color: darkgreen\">(complex)</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1510.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_fixed.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Fixed Value\" class=\"hierarchy\"/> <a href=\"http://hl7.org/fhir/R4/datatypes-definitions.html#Coding.system\">system</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">1..1</td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#uri\">uri</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Identity of the terminology system<br/><span style=\"font-weight: bold\">Fixed Value: </span><span style=\"color: darkgreen\">http://terminology.hl7.org/CodeSystem/observation-category</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1500.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_fixed.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Fixed Value\" class=\"hierarchy\"/> <a href=\"http://hl7.org/fhir/R4/datatypes-definitions.html#Coding.code\">code</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">1..1</td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#code\">code</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Symbol in syntax defined by the system<br/><span style=\"font-weight: bold\">Fixed Value: </span><span style=\"color: darkgreen\">laboratory</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck140.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.category:labCategory.coding\">coding</a><a name=\"Observation.category.coding\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span>..1</td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#Coding\">Coding</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Code defined by a terminology system</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.code\">code</a><a name=\"Observation.code\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">69548-6</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_reference.png\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Reference to another Resource\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.subject\">subject</a><a name=\"Observation.subject\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/references.html\">Reference</a>(<a href=\"StructureDefinition-mcode-cancer-patient.html\">Cancer Patient Profile</a>)</td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Who and/or what the observation is about</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck13.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_slice.png\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Slice Definition\" class=\"hierarchy\"/> <a style=\"font-style: italic\" href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.effective[x]\">Slices for effective[x]</a><a name=\"Observation.effective_x_\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red; font-style: italic\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"font-style: italic\"/><span style=\"opacity: 0.5; font-style: italic\">0</span><span style=\"opacity: 0.5; font-style: italic\">..</span><span style=\"opacity: 0.5; font-style: italic\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5; font-style: italic\" href=\"http://hl7.org/fhir/R4/datatypes.html#dateTime\">dateTime</a><span style=\"opacity: 0.5; font-style: italic\">, </span><a style=\"opacity: 0.5; font-style: italic\" href=\"http://hl7.org/fhir/R4/datatypes.html#Period\">Period</a><span style=\"opacity: 0.5; font-style: italic\">, </span><a style=\"opacity: 0.5; font-style: italic\" href=\"http://hl7.org/fhir/R4/datatypes.html#Timing\">Timing</a><span style=\"opacity: 0.5; font-style: italic\">, </span><a style=\"opacity: 0.5; font-style: italic\" href=\"http://hl7.org/fhir/R4/datatypes.html#instant\">instant</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5; font-style: italic\">Clinically relevant time/time-period for observation</span><br style=\"font-style: italic\"/><span style=\"font-weight:bold; font-style: italic\">Slice: </span><span style=\"font-style: italic\">Unordered, Open by type:$this</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck124.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end_slicer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_slice_item.png\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Slice Item\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.effective[x]:effectiveDateTime\" title=\"Slice effectiveDateTime\">effective[x]:effectiveDateTime</a><a name=\"Observation.effective_x_\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..1</td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#dateTime\">dateTime</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Clinically relevant time/time-period for observation</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.value[x]\">value[x]</a><a name=\"Observation.value_x_\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Actual result</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.dataAbsentReason\">dataAbsentReason</a><a name=\"Observation.dataAbsentReason\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Why the result is missing</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.method\">method</a><a name=\"Observation.method\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Sequencing | SNP array | PCR | Computational analysis | ...</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_reference.png\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Reference to another Resource\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.specimen\">specimen</a><a name=\"Observation.specimen\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/references.html\">Reference</a>(<a href=\"StructureDefinition-mcode-human-specimen.html\">Human Specimen Profile</a>)</td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Specimen used for this observation</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.referenceRange\" title=\"Not used in this profile\">referenceRange</a><a name=\"Observation.referenceRange\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">*</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#BackboneElement\">BackboneElement</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Not used in this profile</td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.hasMember\" title=\"Not used in this profile\">hasMember</a><a name=\"Observation.hasMember\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">*</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/references.html\">Reference</a>(<a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/observation.html\">Observation</a> | <a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/questionnaireresponse.html\">QuestionnaireResponse</a> | <a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/molecularsequence.html\">MolecularSequence</a>)</td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Not used in this profile</td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component\">component</a><a name=\"Observation.component\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">*</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#BackboneElement\">BackboneElement</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Component results</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck15.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_slice_item.png\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Slice Item\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:gene-studied\" title=\"Slice gene-studied\">component:gene-studied</a><a name=\"Observation.component\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">*</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#BackboneElement\">BackboneElement</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Gene Studied</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck150.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:gene-studied.code\">code</a><a name=\"Observation.component.code\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">48018-6</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck140.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:gene-studied.value[x]\">value[x]</a><a name=\"Observation.component.value_x_\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck15.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_slice_item.png\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Slice Item\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:cytogenetic-location\" title=\"Slice cytogenetic-location\">component:cytogenetic-location</a><a name=\"Observation.component\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">*</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#BackboneElement\">BackboneElement</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Cytogenetic (Chromosome) Location</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck150.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:cytogenetic-location.code\">code</a><a name=\"Observation.component.code\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">48001-2</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck140.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:cytogenetic-location.value[x]\">value[x]</a><a name=\"Observation.component.value_x_\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Example: 1q21.1</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck15.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_slice_item.png\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Slice Item\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:genomic-hgvs\" title=\"Slice genomic-hgvs\">component:genomic-hgvs</a><a name=\"Observation.component\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#BackboneElement\">BackboneElement</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Genomic (gDNA) Change - gHGVS</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck150.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:genomic-hgvs.code\">code</a><a name=\"Observation.component.code\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">81290-9</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck140.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:genomic-hgvs.value[x]\">value[x]</a><a name=\"Observation.component.value_x_\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck15.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_slice_item.png\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Slice Item\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:cytogenomic-nomenclature\" title=\"Slice cytogenomic-nomenclature\">component:cytogenomic-nomenclature</a><a name=\"Observation.component\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#BackboneElement\">BackboneElement</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Cytogenomic Nomenclature (ISCN)</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck150.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:cytogenomic-nomenclature.code\">code</a><a name=\"Observation.component.code\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">81291-7</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck140.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:cytogenomic-nomenclature.value[x]\">value[x]</a><a name=\"Observation.component.value_x_\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Actual component result</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck15.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_slice_item.png\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Slice Item\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:coding-change-type\" title=\"Slice coding-change-type\">component:coding-change-type</a><a name=\"Observation.component\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#BackboneElement\">BackboneElement</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Coding DNA Change Type</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck150.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:coding-change-type.code\">code</a><a name=\"Observation.component.code\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">48019-4</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck140.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:coding-change-type.value[x]\">value[x]</a><a name=\"Observation.component.value_x_\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many)</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck15.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_slice_item.png\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Slice Item\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:genomic-source-class\" title=\"Slice genomic-source-class\">component:genomic-source-class</a><a name=\"Observation.component\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#BackboneElement\">BackboneElement</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Genomic Source Class</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck150.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:genomic-source-class.code\">code</a><a name=\"Observation.component.code\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">48002-0</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck140.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:genomic-source-class.value[x]\">value[x]</a><a name=\"Observation.component.value_x_\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck15.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_slice_item.png\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Slice Item\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:sample-allelic-frequency\" title=\"Slice sample-allelic-frequency\">component:sample-allelic-frequency</a><a name=\"Observation.component\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#BackboneElement\">BackboneElement</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Sample Allelic Frequency</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck150.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:sample-allelic-frequency.code\">code</a><a name=\"Observation.component.code\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">81258-6</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck140.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:sample-allelic-frequency.value[x]\">value[x]</a><a name=\"Observation.component.value_x_\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#Quantity\">Quantity</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Relative frequency in the sample</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck15.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_slice_item.png\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Slice Item\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:allelic-state\" title=\"Slice allelic-state\">component:allelic-state</a><a name=\"Observation.component\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#BackboneElement\">BackboneElement</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Allelic State</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck150.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:allelic-state.code\">code</a><a name=\"Observation.component.code\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">53034-5</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck140.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:allelic-state.value[x]\">value[x]</a><a name=\"Observation.component.value_x_\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck15.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_slice_item.png\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Slice Item\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:variation-code\" title=\"Slice variation-code\">component:variation-code</a><a name=\"Observation.component\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">*</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#BackboneElement\">BackboneElement</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Variation Code</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck150.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:variation-code.code\">code</a><a name=\"Observation.component.code\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">81252-9</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck140.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:variation-code.value[x]\">value[x]</a><a name=\"Observation.component.value_x_\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">ClinVar ID or similar</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck15.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_slice_item.png\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Slice Item\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:protein-hgvs\" title=\"Slice protein-hgvs\">component:protein-hgvs</a><a name=\"Observation.component\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#BackboneElement\">BackboneElement</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Protein (Amino Acid) Change - pHGVS</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck150.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:protein-hgvs.code\">code</a><a name=\"Observation.component.code\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">48005-3</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck140.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:protein-hgvs.value[x]\">value[x]</a><a name=\"Observation.component.value_x_\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys)</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck15.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_slice_item.png\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Slice Item\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:amino-acid-change-type\" title=\"Slice amino-acid-change-type\">component:amino-acid-change-type</a><a name=\"Observation.component\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#BackboneElement\">BackboneElement</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Amino Acid Change Type</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck150.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:amino-acid-change-type.code\">code</a><a name=\"Observation.component.code\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">48006-1</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck140.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:amino-acid-change-type.value[x]\">value[x]</a><a name=\"Observation.component.value_x_\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck15.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_slice_item.png\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Slice Item\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:molecular-consequence\" title=\"Slice molecular-consequence\">component:molecular-consequence</a><a name=\"Observation.component\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#BackboneElement\">BackboneElement</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Molecular Consequence</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck150.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:molecular-consequence.code\">code</a><a name=\"Observation.component.code\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">molecular-consequence</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck140.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:molecular-consequence.value[x]\">value[x]</a><a name=\"Observation.component.value_x_\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">stop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many)</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck05.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_slice_item.png\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Slice Item\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:copy-number\" title=\"Slice copy-number\">component:copy-number</a><a name=\"Observation.component\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#BackboneElement\">BackboneElement</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Genomic Structural Variant Copy Number</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck050.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:copy-number.code\">code</a><a name=\"Observation.component.code\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">1</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">82155-3</span></td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck040.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end_slice.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-mcode-genomic-variant-definitions.html#Observation.component:copy-number.value[x]\">value[x]</a><a name=\"Observation.component.value_x_\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"padding-left: 3px; padding-right: 3px; color: white; background-color: red\" title=\"This element must be supported\">S</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a style=\"opacity: 0.5\" href=\"http://hl7.org/fhir/R4/datatypes.html#Quantity\">Quantity</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">Actual component result</span></td></tr>\r\n<tr><td colspan=\"5\" class=\"hierarchy\"><br/><a href=\"https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views\" title=\"Legend for this format\"><img src=\"data:image/png;base64,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\" alt=\"doco\" style=\"background-color: inherit\"/> Documentation for this format</a></td></tr></table></div>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
"valueInteger" : 1
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
"valueCode" : "cic"
}
],
"url" : "http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant",
"identifier" : [
{
"system" : "urn:ietf:rfc:3986",
"value" : "urn:oid:2.16.840.1.113883.4.642.40.15.42.19"
}
],
"version" : "4.0.0-ballot",
"name" : "GenomicVariant",
"title" : "Genomic Variant Profile",
"status" : "active",
"date" : "2024-04-09T21:21:25+00:00",
"publisher" : "HL7 International / Clinical Interoperability Council",
"contact" : [
{
"name" : "HL7 International / Clinical Interoperability Council",
"telecom" : [
{
"system" : "url",
"value" : "http://www.hl7.org/Special/committees/cic"
},
{
"system" : "email",
"value" : "ciclist@lists.HL7.org"
}
]
}
],
"description" : "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.",
"jurisdiction" : [
{
"coding" : [
{
"system" : "urn:iso:std:iso:3166",
"code" : "US",
"display" : "United States of America"
}
]
}
],
"fhirVersion" : "4.0.1",
"mapping" : [
{
"identity" : "workflow",
"uri" : "http://hl7.org/fhir/workflow",
"name" : "Workflow Pattern"
},
{
"identity" : "sct-concept",
"uri" : "http://snomed.info/conceptdomain",
"name" : "SNOMED CT Concept Domain Binding"
},
{
"identity" : "v2",
"uri" : "http://hl7.org/v2",
"name" : "HL7 v2 Mapping"
},
{
"identity" : "rim",
"uri" : "http://hl7.org/v3",
"name" : "RIM Mapping"
},
{
"identity" : "w5",
"uri" : "http://hl7.org/fhir/fivews",
"name" : "FiveWs Pattern Mapping"
},
{
"identity" : "sct-attr",
"uri" : "http://snomed.org/attributebinding",
"name" : "SNOMED CT Attribute Binding"
}
],
"kind" : "resource",
"abstract" : false,
"type" : "Observation",
"baseDefinition" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant",
"derivation" : "constraint",
"snapshot" : {
"element" : [
{
"id" : "Observation",
"path" : "Observation",
"short" : "Variant",
"definition" : "Measurements and simple assertions made about a patient, device or other subject.",
"comment" : "Used for simple observations such as device measurements, laboratory atomic results, vital signs, height, weight, smoking status, comments, etc. Other resources are used to provide context for observations such as laboratory reports, etc.",
"alias" : [
"Vital Signs",
"Measurement",
"Results",
"Tests"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation",
"min" : 0,
"max" : "*"
},
"constraint" : [
{
"key" : "dom-2",
"severity" : "error",
"human" : "If the resource is contained in another resource, it SHALL NOT contain nested Resources",
"expression" : "contained.contained.empty()",
"xpath" : "not(parent::f:contained and f:contained)",
"source" : "http://hl7.org/fhir/StructureDefinition/DomainResource"
},
{
"key" : "dom-3",
"severity" : "error",
"human" : "If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource",
"expression" : "contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()",
"xpath" : "not(exists(for $id in f:contained/*/f:id/@value return $contained[not(parent::*/descendant::f:reference/@value=concat('#', $contained/*/id/@value) or descendant::f:reference[@value='#'])]))",
"source" : "http://hl7.org/fhir/StructureDefinition/DomainResource"
},
{
"key" : "dom-4",
"severity" : "error",
"human" : "If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated",
"expression" : "contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()",
"xpath" : "not(exists(f:contained/*/f:meta/f:versionId)) and not(exists(f:contained/*/f:meta/f:lastUpdated))",
"source" : "http://hl7.org/fhir/StructureDefinition/DomainResource"
},
{
"key" : "dom-5",
"severity" : "error",
"human" : "If a resource is contained in another resource, it SHALL NOT have a security label",
"expression" : "contained.meta.security.empty()",
"xpath" : "not(exists(f:contained/*/f:meta/f:security))",
"source" : "http://hl7.org/fhir/StructureDefinition/DomainResource"
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bestpractice",
"valueBoolean" : true
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bestpractice-explanation",
"valueMarkdown" : "When a resource has no narrative, only systems that fully understand the data can display the resource to a human safely. Including a human readable representation in the resource makes for a much more robust eco-system and cheaper handling of resources by intermediary systems. Some ecosystems restrict distribution of resources to only those systems that do fully understand the resources, and as a consequence implementers may believe that the narrative is superfluous. However experience shows that such eco-systems often open up to new participants over time."
}
],
"key" : "dom-6",
"severity" : "warning",
"human" : "A resource should have narrative for robust management",
"expression" : "text.`div`.exists()",
"xpath" : "exists(f:text/h:div)",
"source" : "http://hl7.org/fhir/StructureDefinition/DomainResource"
},
{
"key" : "obs-6",
"severity" : "error",
"human" : "dataAbsentReason SHALL only be present if Observation.value[x] is not present",
"expression" : "dataAbsentReason.empty() or value.empty()",
"xpath" : "not(exists(f:dataAbsentReason)) or (not(exists(*[starts-with(local-name(.), 'value')])))",
"source" : "http://hl7.org/fhir/StructureDefinition/Observation"
},
{
"key" : "obs-7",
"severity" : "error",
"human" : "If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present",
"expression" : "value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()",
"xpath" : "not(f:*[starts-with(local-name(.), 'value')] and (for $coding in f:code/f:coding return f:component/f:code/f:coding[f:code/@value=$coding/f:code/@value] [f:system/@value=$coding/f:system/@value]))",
"source" : "http://hl7.org/fhir/StructureDefinition/Observation"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "Entity. Role, or Act"
},
{
"identity" : "workflow",
"map" : "Event"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity|"
},
{
"identity" : "v2",
"map" : "OBX"
},
{
"identity" : "rim",
"map" : "Observation[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.id",
"path" : "Observation.id",
"short" : "Logical id of this artifact",
"definition" : "The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes.",
"comment" : "The only time that a resource does not have an id is when it is being submitted to the server using a create operation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Resource.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "id"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : true
},
{
"id" : "Observation.meta",
"path" : "Observation.meta",
"short" : "Metadata about the resource",
"definition" : "The metadata about the resource. This is content that is maintained by the infrastructure. Changes to the content might not always be associated with version changes to the resource.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Resource.meta",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "Meta"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true
},
{
"id" : "Observation.implicitRules",
"path" : "Observation.implicitRules",
"short" : "A set of rules under which this content was created",
"definition" : "A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc.",
"comment" : "Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Resource.implicitRules",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "uri"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : true,
"isModifierReason" : "This element is labeled as a modifier because the implicit rules may provide additional knowledge about the resource that modifies it's meaning or interpretation",
"isSummary" : true
},
{
"id" : "Observation.language",
"path" : "Observation.language",
"short" : "Language of the resource content",
"definition" : "The base language in which the resource is written.",
"comment" : "Language is provided to support indexing and accessibility (typically, services such as text to speech use the language tag). The html language tag in the narrative applies to the narrative. The language tag on the resource may be used to specify the language of other presentations generated from the data in the resource. Not all the content has to be in the base language. The Resource.language should not be assumed to apply to the narrative automatically. If a language is specified, it should it also be specified on the div element in the html (see rules in HTML5 for information about the relationship between xml:lang and the html lang attribute).",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Resource.language",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "code"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-maxValueSet",
"valueCanonical" : "http://hl7.org/fhir/ValueSet/all-languages"
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "Language"
}
],
"strength" : "preferred",
"description" : "A human language.",
"valueSet" : "http://hl7.org/fhir/ValueSet/languages"
}
},
{
"id" : "Observation.text",
"path" : "Observation.text",
"short" : "Text summary of the resource, for human interpretation",
"definition" : "A human-readable narrative that contains a summary of the resource and can be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it \"clinically safe\" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety.",
"comment" : "Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative. In some cases, a resource may only have text with little or no additional discrete data (as long as all minOccurs=1 elements are satisfied). This may be necessary for data from legacy systems where information is captured as a \"text blob\" or where text is additionally entered raw or narrated and encoded information is added later.",
"alias" : [
"narrative",
"html",
"xhtml",
"display"
],
"min" : 0,
"max" : "1",
"base" : {
"path" : "DomainResource.text",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "Narrative"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "Act.text?"
}
]
},
{
"id" : "Observation.contained",
"path" : "Observation.contained",
"short" : "Contained, inline Resources",
"definition" : "These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope.",
"comment" : "This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again. Contained resources may have profiles and tags In their meta elements, but SHALL NOT have security labels.",
"alias" : [
"inline resources",
"anonymous resources",
"contained resources"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "DomainResource.contained",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Resource"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.extension",
"path" : "Observation.extension",
"slicing" : {
"discriminator" : [
{
"type" : "value",
"path" : "url"
}
],
"ordered" : false,
"rules" : "open"
},
"short" : "Extension",
"definition" : "An Extension",
"min" : 0,
"max" : "*",
"base" : {
"path" : "DomainResource.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false
},
{
"id" : "Observation.extension:secondary-finding",
"path" : "Observation.extension",
"sliceName" : "secondary-finding",
"short" : "Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.\n\nFor more detail, please see:\nhttps://ghr.nlm.nih.gov/primer/testing/secondaryfindings",
"definition" : "Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.\n\nFor more detail, please see:\nhttps://ghr.nlm.nih.gov/primer/testing/secondaryfindings.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "DomainResource.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension",
"profile" : [
"http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding"
]
}
],
"condition" : [
"ele-1"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false
},
{
"id" : "Observation.extension:body-structure",
"path" : "Observation.extension",
"sliceName" : "body-structure",
"short" : "Target anatomic location or structure",
"definition" : "Record details about the anatomical location of a specimen or body part. This resource may be used when a coded concept does not provide the necessary detail needed for the use case.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "DomainResource.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension",
"profile" : [
"http://hl7.org/fhir/StructureDefinition/bodySite"
]
}
],
"condition" : [
"ele-1"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false
},
{
"id" : "Observation.modifierExtension",
"path" : "Observation.modifierExtension",
"short" : "Extensions that cannot be ignored",
"definition" : "May be used to represent additional information that is not part of the basic definition of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "DomainResource.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the resource that contains them",
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.identifier",
"path" : "Observation.identifier",
"short" : "Business Identifier for observation",
"definition" : "A unique identifier assigned to this observation.",
"requirements" : "Allows observations to be distinguished and referenced.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.identifier",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Identifier"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "workflow",
"map" : "Event.identifier"
},
{
"identity" : "w5",
"map" : "FiveWs.identifier"
},
{
"identity" : "v2",
"map" : "OBX.21 For OBX segments from systems without OBX-21 support a combination of ORC/OBR and OBX must be negotiated between trading partners to uniquely identify the OBX segment. Depending on how V2 has been implemented each of these may be an option: 1) OBR-3 + OBX-3 + OBX-4 or 2) OBR-3 + OBR-4 + OBX-3 + OBX-4 or 2) some other way to uniquely ID the OBR/ORC + OBX-3 + OBX-4."
},
{
"identity" : "rim",
"map" : "id"
}
]
},
{
"id" : "Observation.basedOn",
"path" : "Observation.basedOn",
"short" : "Fulfills plan, proposal or order",
"definition" : "A plan, proposal or order that is fulfilled in whole or in part by this event. For example, a MedicationRequest may require a patient to have laboratory test performed before it is dispensed.",
"requirements" : "Allows tracing of authorization for the event and tracking whether proposals/recommendations were acted upon.",
"alias" : [
"Fulfills"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.basedOn",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Reference",
"targetProfile" : [
"http://hl7.org/fhir/StructureDefinition/CarePlan",
"http://hl7.org/fhir/StructureDefinition/DeviceRequest",
"http://hl7.org/fhir/StructureDefinition/ImmunizationRecommendation",
"http://hl7.org/fhir/StructureDefinition/MedicationRequest",
"http://hl7.org/fhir/StructureDefinition/NutritionOrder",
"http://hl7.org/fhir/StructureDefinition/ServiceRequest"
]
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "workflow",
"map" : "Event.basedOn"
},
{
"identity" : "v2",
"map" : "ORC"
},
{
"identity" : "rim",
"map" : ".inboundRelationship[typeCode=COMP].source[moodCode=EVN]"
}
]
},
{
"id" : "Observation.partOf",
"path" : "Observation.partOf",
"short" : "Part of referenced event",
"definition" : "A larger event of which this particular Observation is a component or step. For example, an observation as part of a procedure.",
"comment" : "To link an Observation to an Encounter use `encounter`. See the [Notes](http://hl7.org/fhir/R4/observation.html#obsgrouping) below for guidance on referencing another Observation.",
"alias" : [
"Container"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.partOf",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Reference",
"targetProfile" : [
"http://hl7.org/fhir/StructureDefinition/MedicationAdministration",
"http://hl7.org/fhir/StructureDefinition/MedicationDispense",
"http://hl7.org/fhir/StructureDefinition/MedicationStatement",
"http://hl7.org/fhir/StructureDefinition/Procedure",
"http://hl7.org/fhir/StructureDefinition/Immunization",
"http://hl7.org/fhir/StructureDefinition/ImagingStudy"
]
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "workflow",
"map" : "Event.partOf"
},
{
"identity" : "v2",
"map" : "Varies by domain"
},
{
"identity" : "rim",
"map" : ".outboundRelationship[typeCode=FLFS].target"
}
]
},
{
"id" : "Observation.status",
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-display-hint",
"valueString" : "default: final"
}
],
"path" : "Observation.status",
"short" : "registered | preliminary | final | amended +",
"definition" : "The status of the result value.",
"comment" : "This element is labeled as a modifier because the status contains codes that mark the resource as not currently valid.",
"requirements" : "Need to track the status of individual results. Some results are finalized before the whole report is finalized.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.status",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "code"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : true,
"isModifierReason" : "This element is labeled as a modifier because it is a status element that contains status entered-in-error which means that the resource should not be treated as valid",
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationStatus"
}
],
"strength" : "required",
"description" : "Codes providing the status of an observation.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-status|4.0.1"
},
"mapping" : [
{
"identity" : "workflow",
"map" : "Event.status"
},
{
"identity" : "w5",
"map" : "FiveWs.status"
},
{
"identity" : "sct-concept",
"map" : "< 445584004 |Report by finality status|"
},
{
"identity" : "v2",
"map" : "OBX-11"
},
{
"identity" : "rim",
& '.",
"comment" : "An observation may have; 1) a single value here, 2) both a value and a set of related or component values, or 3) only a set of related or component values. If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-7"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"binding" : {
"strength" : "required",
"valueSet" : "http://loinc.org/vs/LL1971-2"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.dataAbsentReason",
"path" : "Observation.dataAbsentReason",
"short" : "Why the result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.value[x] is missing.",
"comment" : "Null or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"specimen unsatisfactory\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Note that an observation may only be reported if there are values to report. For example differential cell counts values may be reported only when > 0. Because of these options, use-case agreements are required to interpret general observations for null or exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.interpretation",
"path" : "Observation.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.note",
"path" : "Observation.note",
"short" : "Comments about the Observation that also contain a coded type",
"definition" : "A text note which also contains information about who made the statement and when.",
"comment" : "May include general statements about the observation, or statements about significant, unexpected or unreliable results values, or information about its source when relevant to its interpretation.\nThe CodedAnnotation data type, while not allowing for or intending to make the content computable, does allow the author to indicate the type of note. This does not replace the use of interpretation, value, or component values.\nOne important note is that Annotation is a FHIR data type, this is **NOT** about annotations in the genomic context.",
"requirements" : "Need to be able to provide free text additional information. Notes SHALL NOT contain information which can be captured in a structured way.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.note",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Annotation",
"profile" : [
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/coded-annotation"
]
}
],
"condition" : [
"ele-1"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
},
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "Act"
}
]
},
{
"id" : "Observation.bodySite",
"path" : "Observation.bodySite",
"short" : "Observed body part",
"definition" : "Indicates the site on the subject's body where the observation was made (i.e. the target site).",
"comment" : "Only used if not implicit in code found in Observation.code. In many systems, this may be represented as a related observation instead of an inline component. \n\nIf the use case requires BodySite to be handled as a separate resource (e.g. to identify and track separately) then use the standard extension[ bodySite](http://hl7.org/fhir/R4/extension-bodysite.html).",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.bodySite",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "BodySite"
}
],
"strength" : "example",
"description" : "Codes describing anatomical locations. May include laterality.",
"valueSet" : "http://hl7.org/fhir/ValueSet/body-site"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 123037004 |Body structure|"
},
{
"identity" : "v2",
"map" : "OBX-20"
},
{
"identity" : "rim",
"map" : "targetSiteCode"
},
{
"identity" : "sct-attr",
"map" : "718497002 |Inherent location|"
}
]
},
{
"id" : "Observation.method",
"path" : "Observation.method",
"short" : "Sequencing | SNP array | PCR | Computational analysis | ...",
"definition" : "Indicates the mechanism used to perform the observation.",
"comment" : "Only used if not implicit in code for Observation.code.",
"requirements" : "In some cases, method can impact results and is thus used for determining whether results can be compared or determining significance of results.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.method",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : false,
"binding" : {
"strength" : "extensible",
"valueSet" : "http://loinc.org/vs/LL4048-6"
},
"mapping" : [
{
"identity" : "v2",
"map" : "OBX-17"
},
{
"identity" : "rim",
"map" : "methodCode"
}
]
},
{
"id" : "Observation.specimen",
"path" : "Observation.specimen",
"short" : "Specimen used for this observation",
"definition" : "The specimen that was used when this observation was made.",
"comment" : "Should only be used if not implicit in code found in `Observation.code`. Observations are not made on specimens themselves; they are made on a subject, but in many cases by the means of a specimen. Note that although specimens are often involved, they are not always tracked and reported explicitly. Also note that observation resources may be used in contexts that track the specimen explicitly (e.g. Diagnostic Report).",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.specimen",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "Reference",
"targetProfile" : [
"http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-human-specimen"
]
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 123038009 |Specimen|"
},
{
"identity" : "v2",
"map" : "SPM segment"
},
{
"identity" : "rim",
"map" : "participation[typeCode=SPC].specimen"
},
{
"identity" : "sct-attr",
"map" : "704319004 |Inherent in|"
}
]
},
{
"id" : "Observation.device",
"path" : "Observation.device",
"short" : "(Measurement) Device",
"definition" : "The device used to generate the observation data.",
"comment" : "Note that this is not meant to represent a device involved in the transmission of the result, e.g., a gateway. Such devices may be documented using the Provenance resource where relevant.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.device",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "Reference",
"targetProfile" : [
"http://hl7.org/fhir/StructureDefinition/Device",
"http://hl7.org/fhir/StructureDefinition/DeviceMetric"
]
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 49062001 |Device|"
},
{
"identity" : "v2",
"map" : "OBX-17 / PRT -10"
},
{
"identity" : "rim",
"map" : "participation[typeCode=DEV]"
},
{
"identity" : "sct-attr",
"map" : "424226004 |Using device|"
}
]
},
{
"id" : "Observation.referenceRange",
"path" : "Observation.referenceRange",
"short" : "Not used in this profile",
"definition" : "Not used in this profile",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.referenceRange",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "obs-3",
"severity" : "error",
"human" : "Must have at least a low or a high or text",
"expression" : "low.exists() or high.exists() or text.exists()",
"xpath" : "(exists(f:low) or exists(f:high)or exists(f:text))",
"source" : "http://hl7.org/fhir/StructureDefinition/Observation"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.referenceRange.id",
"path" : "Observation.referenceRange.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.referenceRange.extension",
"path" : "Observation.referenceRange.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.referenceRange.modifierExtension",
"path" : "Observation.referenceRange.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.referenceRange.low",
"path" : "Observation.referenceRange.low",
"short" : "Low Range, if relevant",
"definition" : "The value of the low bound of the reference range. The low bound of the reference range endpoint is inclusive of the value (e.g. reference range is >=5 - <=9). If the low bound is omitted, it is assumed to be meaningless (e.g. reference range is <=2.3).",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.referenceRange.low",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "Quantity",
"profile" : [
"http://hl7.org/fhir/StructureDefinition/SimpleQuantity"
]
}
],
"condition" : [
"obs-3"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX-7"
},
{
"identity" : "rim",
"map" : "value:IVL_PQ.low"
}
]
},
{
"id" : "Observation.referenceRange.high",
"path" : "Observation.referenceRange.high",
"short" : "High Range, if relevant",
"definition" : "The value of the high bound of the reference range. The high bound of the reference range endpoint is inclusive of the value (e.g. reference range is >=5 - <=9). If the high bound is omitted, it is assumed to be meaningless (e.g. reference range is >= 2.3).",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.referenceRange.high",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "Quantity",
"profile" : [
"http://hl7.org/fhir/StructureDefinition/SimpleQuantity"
]
}
],
"condition" : [
"obs-3"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX-7"
},
{
"identity" : "rim",
"map" : "value:IVL_PQ.high"
}
]
},
{
"id" : "Observation.referenceRange.type",
"path" : "Observation.referenceRange.type",
"short" : "Reference range qualifier",
"definition" : "Codes to indicate the what part of the targeted reference population it applies to. For example, the normal or therapeutic range.",
"comment" : "This SHOULD be populated if there is more than one range. If this element is not present then the normal range is assumed.",
"requirements" : "Need to be able to say what kind of reference range this is - normal, recommended, therapeutic, etc., - for proper interpretation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.referenceRange.type",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationRangeMeaning"
}
],
"strength" : "preferred",
"description" : "Code for the meaning of a reference range.",
"valueSet" : "http://hl7.org/fhir/ValueSet/referencerange-meaning"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values| OR \r< 365860008 |General clinical state finding| \rOR \r< 250171008 |Clinical history or observation findings| OR \r< 415229000 |Racial group| OR \r< 365400002 |Finding of puberty stage| OR\r< 443938003 |Procedure carried out on subject|"
},
{
"identity" : "v2",
"map" : "OBX-10"
},
{
"identity" : "rim",
"map" : "interpretationCode"
}
]
},
{
"id" : "Observation.referenceRange.appliesTo",
"path" : "Observation.referenceRange.appliesTo",
"short" : "Reference range population",
"definition" : "Codes to indicate the target population this reference range applies to. For example, a reference range may be based on the normal population or a particular sex or race. Multiple `appliesTo` are interpreted as an \"AND\" of the target populations. For example, to represent a target population of African American females, both a code of female and a code for African American would be used.",
"comment" : "This SHOULD be populated if there is more than one range. If this element is not present then the normal population is assumed.",
"requirements" : "Need to be able to identify the target population for proper interpretation.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.referenceRange.appliesTo",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationRangeType"
}
],
"strength" : "example",
"description" : "Codes identifying the population the reference range applies to.",
"valueSet" : "http://hl7.org/fhir/ValueSet/referencerange-appliesto"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values| OR \r< 365860008 |General clinical state finding| \rOR \r< 250171008 |Clinical history or observation findings| OR \r< 415229000 |Racial group| OR \r< 365400002 |Finding of puberty stage| OR\r< 443938003 |Procedure carried out on subject|"
},
{
"identity" : "v2",
"map" : "OBX-10"
},
{
"identity" : "rim",
"map" : "interpretationCode"
}
]
},
{
"id" : "Observation.referenceRange.age",
"path" : "Observation.referenceRange.age",
"short" : "Applicable age range, if relevant",
"definition" : "The age at which this reference range is applicable. This is a neonatal age (e.g. number of weeks at term) if the meaning says so.",
"requirements" : "Some analytes vary greatly over age.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.referenceRange.age",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "Range"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=PRCN].targetObservationCriterion[code=\"age\"].value"
}
]
},
{
"id" : "Observation.referenceRange.text",
"path" : "Observation.referenceRange.text",
"short" : "Text based reference range in an observation",
"definition" : "Text based reference range in an observation which may be used when a quantitative range is not appropriate for an observation. An example would be a reference value of \"Negative\" or a list or table of \"normals\".",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.referenceRange.text",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "string"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX-7"
},
{
"identity" : "rim",
"map" : "value:ST"
}
]
},
{
"id" : "Observation.hasMember",
"path" : "Observation.hasMember",
"short" : "Not used in this profile",
"definition" : "Not used in this profile",
"comment" : "When using this element, an observation will typically have either a value or a set of related resources, although both may be present in some cases. For a discussion on the ways Observations can assembled in groups together, see [Notes](http://hl7.org/fhir/R4/observation.html#obsgrouping) below. Note that a system may calculate results from [QuestionnaireResponse](http://hl7.org/fhir/R4/questionnaireresponse.html) into a final score and represent the score as an Observation.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.hasMember",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Reference",
"targetProfile" : [
"http://hl7.org/fhir/StructureDefinition/Observation",
"http://hl7.org/fhir/StructureDefinition/QuestionnaireResponse",
"http://hl7.org/fhir/StructureDefinition/MolecularSequence"
]
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "Relationships established by OBX-4 usage"
},
{
"identity" : "rim",
"map" : "outBoundRelationship"
}
]
},
{
"id" : "Observation.derivedFrom",
"path" : "Observation.derivedFrom",
"short" : "Related measurements the observation is made from",
"definition" : "The target resource that represents a measurement from which this observation value is derived. For example, a calculated anion gap or a fetal measurement based on an ultrasound image.",
"comment" : "All the reference choices that are listed in this element can represent clinical observations and other measurements that may be the source for a derived value. The most common reference will be another Observation. For a discussion on the ways Observations can assembled in groups together, see [Notes](http://hl7.org/fhir/R4/observation.html#obsgrouping) below.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.derivedFrom",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Reference",
"targetProfile" : [
"http://hl7.org/fhir/StructureDefinition/DocumentReference",
"http://hl7.org/fhir/StructureDefinition/ImagingStudy",
"http://hl7.org/fhir/StructureDefinition/Media",
"http://hl7.org/fhir/StructureDefinition/QuestionnaireResponse",
"http://hl7.org/fhir/StructureDefinition/Observation",
"http://hl7.org/fhir/StructureDefinition/MolecularSequence"
]
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "Relationships established by OBX-4 usage"
},
{
"identity" : "rim",
"map" : ".targetObservation"
}
]
},
{
"id" : "Observation.component",
"path" : "Observation.component",
"slicing" : {
"discriminator" : [
{
"type" : "pattern",
"path" : "code"
}
],
"description" : "Slice based on the component.code pattern",
"rules" : "open"
},
"short" : "Component results",
"definition" : "Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component.code",
"path" : "Observation.component.code",
"short" : "Type of component observation (code / type)",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component.value[x]",
"path" : "Observation.component.value[x]",
"short" : "Actual component result",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "Quantity"
},
{
"code" : "CodeableConcept"
},
{
"code" : "string"
},
{
"code" : "boolean"
},
{
"code" : "integer"
},
{
"code" : "Range"
},
{
"code" : "Ratio"
},
{
"code" : "SampledData"
},
{
"code" : "time"
},
{
"code" : "dateTime"
},
{
"code" : "Period"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:conclusion-string",
"path" : "Observation.component",
"sliceName" : "conclusion-string",
"short" : "Clinical Conclusion",
"definition" : "Concise and clinically contextualized summary conclusion (interpretation/impression) of the observation",
"comment" : "An example would be the interpretative information, typically canned, about a variant identified in the patient.",
"requirements" : "Need to be able to provide a conclusion that is not lost among the basic result data.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:conclusion-string.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:conclusion-string.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:conclusion-string.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:conclusion-string.code",
"path" : "Observation.component.code",
"short" : "conclusion-string",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code" : "conclusion-string"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:conclusion-string.value[x]",
"path" : "Observation.component.value[x]",
"short" : "Summary conclusion (interpretation/impression)",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "string"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:conclusion-string.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:conclusion-string.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:conclusion-string.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:gene-studied",
"path" : "Observation.component",
"sliceName" : "gene-studied",
"short" : "Gene Studied",
"definition" : "The gene(s) on which the variant is located.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:gene-studied.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:gene-studied.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:gene-studied.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:gene-studied.code",
"path" : "Observation.component.code",
"short" : "48018-6",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48018-6"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:gene-studied.value[x]",
"path" : "Observation.component.value[x]",
"short" : "The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"strength" : "extensible",
"valueSet" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:gene-studied.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:gene-studied.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:gene-studied.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:cytogenetic-location",
"path" : "Observation.component",
"sliceName" : "cytogenetic-location",
"short" : "Cytogenetic (Chromosome) Location",
"definition" : "The relevant chromosomal region. The combination of numbers and letters provide a genetic 'address'.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:cytogenetic-location.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:cytogenetic-location.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of dentity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:cytogenomic-nomenclature.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:inner-start-end.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:inner-start-end.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:inner-start-end.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:inner-start-end.code",
"path" : "Observation.component.code",
"short" : "81302-2",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "81302-2"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:inner-start-end.value[x]",
"path" : "Observation.component.value[x]",
"short" : "Imprecise variant inner-bounding range",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "Range"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:inner-start-end.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:inner-start-end.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:inner-start-end.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:outer-start-end",
"path" : "Observation.component",
"sliceName" : "outer-start-end",
"short" : "Outer Start-End",
"definition" : "The genomic coordinates of the widest genomic range in which the variant might reside. Used when the exact boundaries of the variant are not clear.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:outer-start-end.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:outer-start-end.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:outer-start-end.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:outer-start-end.code",
"path" : "Observation.component.code",
"short" : "81301-4",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "81301-4"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:outer-start-end.value[x]",
"path" : "Observation.component.value[x]",
"short" : "Imprecise variant outer-bounding range",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "Range"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:outer-start-end.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:outer-start-end.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:outer-start-end.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:coordinate-system",
"path" : "Observation.component",
"sliceName" : "coordinate-system",
"short" : "Coordinate System",
"definition" : "These are different ways of identifying nucleotides or amino acids within a sequence. In the 1-based system, the first unit of the polymer (e.g. the first nucleotide) is counted as number 1. In the 0-based system, the number 0 designates the location before the first nucleotide. Different databases and file types may use different systems.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:coordinate-system.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:coordinate-system.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:coordinate-system.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:coordinate-system.code",
"path" : "Observation.component.code",
"short" : "92822-6",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "92822-6"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:coordinate-system.value[x]",
"path" : "Observation.component.value[x]",
"short" : "0-based interval counting | 0-based character counting | 1-based character counting",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"binding" : {
"strength" : "extensible",
"valueSet" : "http://loinc.org/vs/LL5323-2"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:coordinate-system.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:coordinate-system.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:coordinate-system.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:ref-allele",
"path" : "Observation.component",
"sliceName" : "ref-allele",
"short" : "Genomic Ref Allele",
"definition" : "Reference values ('normal') examined within the Reference Sequence.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:ref-allele.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:ref-allele.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:ref-allele.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:ref-allele.code",
"path" : "Observation.component.code",
"short" : "69547-8",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "69547-8"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:ref-allele.value[x]",
"path" : "Observation.component.value[x]",
"short" : "Normalized string per the VCF format.",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "string"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:ref-allele.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:ref-allele.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:ref-allele.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:alt-allele",
"path" : "Observation.component",
"sliceName" : "alt-allele",
"short" : "Genomic Alt Allele",
"definition" : "The genomic alternate allele is the contiguous segment of DNA in the test sample that differs from the reference allele at the same location and thus defines a variant.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:alt-allele.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:alt-allele.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:alt-allele.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:alt-allele.code",
"path" : "Observation.component.code",
"short" : "69551-0",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "69551-0"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:alt-allele.value[x]",
"path" : "Observation.component.value[x]",
"short" : "Normalized string per the VCF format.",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "string"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:alt-allele.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:alt-allele.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:alt-allele.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:coding-change-type",
"path" : "Observation.component",
"sliceName" : "coding-change-type",
"short" : "Coding DNA Change Type",
"definition" : "Type of DNA change observed. Convenience property for variants with exact breakpoints, required otherwise.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:coding-change-type.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:coding-change-type.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:coding-change-type.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:coding-change-type.code",
"path" : "Observation.component.code",
"short" : "48019-4",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48019-4"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:coding-change-type.value[x]",
"path" : "Observation.component.value[x]",
"short" : "deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many)",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"strength" : "extensible",
"description" : "Concepts in sequence ontology under SO:0002072",
"valueSet" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:coding-change-type.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:coding-change-type.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:coding-change-type.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:genomic-source-class",
"path" : "Observation.component",
"sliceName" : "genomic-source-class",
"short" : "Genomic Source Class",
"definition" : "The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:genomic-source-class.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:genomic-source-class.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:genomic-source-class.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:genomic-source-class.code",
"path" : "Observation.component.code",
"short" : "48002-0",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48002-0"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:genomic-source-class.value[x]",
"path" : "Observation.component.value[x]",
"short" : "Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"strength" : "extensible",
"valueSet" : "http://loinc.org/vs/LL378-1"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:genomic-source-class.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:genomic-source-class.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:genomic-source-class.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:sample-allelic-frequency",
"path" : "Observation.component",
"sliceName" : "sample-allelic-frequency",
"short" : "Sample Allelic Frequency",
"definition" : "The relative frequency of the allele at a given locus in the sample.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:sample-allelic-frequency.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:sample-allelic-frequency.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:sample-allelic-frequency.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:sample-allelic-frequency.code",
"path" : "Observation.component.code",
"short" : "81258-6",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "81258-6"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:sample-allelic-frequency.value[x]",
"path" : "Observation.component.value[x]",
"short" : "Relative frequency in the sample",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "Quantity"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:sample-allelic-frequency.value[x].id",
"path" : "Observation.component.value[x].id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:sample-allelic-frequency.value[x].extension",
"path" : "Observation.component.value[x].extension",
"slicing" : {
"discriminator" : [
{
"type" : "value",
"path" : "url"
}
],
"description" : "Extensions are always sliced by (at least) url",
"rules" : "open"
},
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:sample-allelic-frequency.value[x].value",
"path" : "Observation.component.value[x].value",
"short" : "Numerical value (with implicit precision)",
"definition" : "The value of the measured amount. The value includes an implicit precision in the presentation of the value.",
"comment" : "The implicit precision in the value should always be honored. Monetary values have their own rules for handling precision (refer to standard accounting text books).",
"requirements" : "Precision is handled implicitly in almost all cases of measurement.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Quantity.value",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "decimal"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "SN.2 / CQ - N/A"
},
{
"identity" : "rim",
"map" : "PQ.value, CO.value, MO.value, IVL.high or IVL.low depending on the value"
}
]
},
{
"id" : "Observation.component:sample-allelic-frequency.value[x].comparator",
"path" : "Observation.component.value[x].comparator",
"short" : "< | <= | >= | > - how to understand the value",
"definition" : "How the value should be understood and represented - whether the actual value is greater or less than the stated value due to measurement issues; e.g. if the comparator is \"<\" , then the real value is < stated value.",
"requirements" : "Need a framework for handling measures where the value is <5ug/L or >400mg/L due to the limitations of measuring methodology.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Quantity.comparator",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "code"
}
],
"meaningWhenMissing" : "If there is no comparator, then there is no modification of the value",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : true,
"isModifierReason" : "This is labeled as \"Is Modifier\" because the comparator modifies the interpretation of the value significantly. If there is no comparator, then there is no modification of the value",
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "QuantityComparator"
}
],
"strength" : "required",
"description" : "How the Quantity should be understood and represented.",
"valueSet" : "http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1"
},
"mapping" : [
{
"identity" : "v2",
"map" : "SN.1 / CQ.1"
},
{
"identity" : "rim",
"map" : "IVL properties"
}
]
},
{
"id" : "Observation.component:sample-allelic-frequency.value[x].unit",
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-translatable",
"valueBoolean" : true
}
],
"path" : "Observation.component.value[x].unit",
"short" : "Unit representation",
"definition" : "A human-readable form of the unit.",
"requirements" : "There are many representations for units of measure and in many contexts, particular representations are fixed and required. I.e. mcg for micrograms.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Quantity.unit",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "string"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "(see OBX.6 etc.) / CQ.2"
},
{
"identity" : "rim",
"map" : "PQ.unit"
}
]
},
{
"id" : "Observation.component:sample-allelic-frequency.value[x].system",
"path" : "Observation.component.value[x].system",
"short" : "System that defines coded unit form",
"definition" : "The identification of the system that provides the coded form of the unit.",
"requirements" : "Need to know the system that defines the coded form of the unit.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Quantity.system",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "uri"
}
],
"patternUri" : "http://unitsofmeasure.org",
"condition" : [
"qty-3"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "(see OBX.6 etc.) / CQ.2"
},
{
"identity" : "rim",
"map" : "CO.codeSystem, PQ.translation.codeSystem"
}
]
},
{
"id" : "Observation.component:sample-allelic-frequency.value[x].code",
"path" : "Observation.component.value[x].code",
"short" : "Coded form of the unit",
"definition" : "A computer processable form of the unit in some unit representation system.",
"comment" : "The preferred system is UCUM, but SNOMED CT can also be used (for customary units) or ISO 4217 for currency. The context of use may additionally require a code from a particular system.",
"requirements" : "Need a computable form of the unit that is fixed across all forms. UCUM provides this for quantities, but SNOMED CT provides many units of interest.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Quantity.code",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "code"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "(see OBX.6 etc.) / CQ.2"
},
{
"identity" : "rim",
"map" : "PQ.code, MO.currency, PQ.translation.code"
}
]
},
{
"id" : "Observation.component:sample-allelic-frequency.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:sample-allelic-frequency.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:sample-allelic-frequency.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:allelic-read-depth",
"path" : "Observation.component",
"sliceName" : "allelic-read-depth",
"short" : "Allelic Read Depth",
"definition" : "Specifies the number of reads that identified the allele in question whether it consists of one or a small sequence of contiguous nucleotides. Different methods and purposes require different numbers of reads to be acceptable. Often >400, sometimes as few as 2-4.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:allelic-read-depth.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:allelic-read-depth.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:allelic-read-depth.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:allelic-read-depth.code",
"path" : "Observation.component.code",
"short" : "82121-5",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "82121-5"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:allelic-read-depth.value[x]",
"path" : "Observation.component.value[x]",
"short" : "Unfiltered count of supporting reads",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "Quantity"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:allelic-read-depth.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:allelic-read-depth.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:allelic-read-depth.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:allelic-state",
"path" : "Observation.component",
"sliceName" : "allelic-state",
"short" : "Allelic State",
"definition" : "The observed level of occurrence of the variant in the set of chromosomes.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:allelic-state.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:allelic-state.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:allelic-state.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:allelic-state.code",
"path" : "Observation.component.code",
"short" : "53034-5",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "53034-5"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:allelic-state.value[x]",
"path" : "Observation.component.value[x]",
"short" : "Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"strength" : "extensible",
"valueSet" : "http://loinc.org/vs/LL381-5"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:allelic-state.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:allelic-state.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:allelic-state.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:variant-inheritance",
"path" : "Observation.component",
"sliceName" : "variant-inheritance",
"short" : "Variant Inheritance",
"definition" : "By which parent the variant was inherited in the patient, if known.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:variant-inheritance.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:variant-inheritance.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:variant-inheritance.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:variant-inheritance.code",
"path" : "Observation.component.code",
"short" : "variant-inheritance",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code" : "variant-inheritance"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:variant-inheritance.value[x]",
"path" : "Observation.component.value[x]",
"short" : "Maternal | Paternal | Unknown",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"binding" : {
"strength" : "extensible",
"valueSet" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance-vs"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:variant-inheritance.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:variant-inheritance.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:variant-inheritance.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:variation-code",
"path" : "Observation.component",
"sliceName" : "variation-code",
"short" : "Variation Code",
"definition" : "Accession number in a variant database such as ClinVar, given for cross-reference.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:variation-code.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:variation-code.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:variation-code.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:variation-code.code",
"path" : "Observation.component.code",
"short" : "81252-9",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "81252-9"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:variation-code.value[x]",
"path" : "Observation.component.value[x]",
"short" : "ClinVar ID or similar",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"strength" : "example",
"description" : "Multiple bindings acceptable"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:variation-code.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:variation-code.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:variation-code.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:chromosome-identifier",
"path" : "Observation.component",
"sliceName" : "chromosome-identifier",
"short" : "Chromosome Identifier",
"definition" : "An indicator, enumerated in humans by numbers 1-22, X, and Y, representing the chromosome on which the variant is located.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:chromosome-identifier.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:chromosome-identifier.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:chromosome-identifier.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:chromosome-identifier.code",
"path" : "Observation.component.code",
"short" : "48000-4",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48000-4"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:chromosome-identifier.value[x]",
"path" : "Observation.component.value[x]",
"short" : "Chromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"binding" : {
"strength" : "required",
"valueSet" : "http://loinc.org/vs/LL2938-0"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:chromosome-identifier.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:chromosome-identifier.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:chromosome-identifier.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:protein-hgvs",
"path" : "Observation.component",
"sliceName" : "protein-hgvs",
"short" : "Protein (Amino Acid) Change - pHGVS",
"definition" : "Description of the protein (amino acid) sequence change using a valid HGVS-formatted string. The description of the variant is surrounded in parentheses if it is calculated rather than directly observed.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:protein-hgvs.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:protein-hgvs.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:protein-hgvs.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:protein-hgvs.code",
"path" : "Observation.component.code",
"short" : "48005-3",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48005-3"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:protein-hgvs.value[x]",
"path" : "Observation.component.value[x]",
"short" : "A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys)",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"strength" : "required",
"valueSet" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:protein-hgvs.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:protein-hgvs.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:protein-hgvs.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:amino-acid-change-type",
"path" : "Observation.component",
"sliceName" : "amino-acid-change-type",
"short" : "Amino Acid Change Type",
"definition" : "Codified type for associated Amino Acid Marker, for convenience.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:amino-acid-change-type.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:amino-acid-change-type.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:amino-acid-change-type.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:amino-acid-change-type.code",
"path" : "Observation.component.code",
"short" : "48006-1",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48006-1"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:amino-acid-change-type.value[x]",
"path" : "Observation.component.value[x]",
"short" : "Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"strength" : "extensible",
"valueSet" : "http://loinc.org/vs/LL380-7"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:amino-acid-change-type.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:amino-acid-change-type.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:amino-acid-change-type.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:molecular-consequence",
"path" : "Observation.component",
"sliceName" : "molecular-consequence",
"short" : "Molecular Consequence",
"definition" : "The calculated or observed effect of a variant on its downstream transcript and, if applicable, ensuing protein sequence.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:molecular-consequence.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:molecular-consequence.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:molecular-consequence.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:molecular-consequence.code",
"path" : "Observation.component.code",
"short" : "molecular-consequence",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code" : "molecular-consequence"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:molecular-consequence.value[x]",
"path" : "Observation.component.value[x]",
"short" : "stop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many)",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"strength" : "extensible",
"description" : "Concepts in sequence ontology under SO:0001537.",
"valueSet" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-consequence-vs"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:molecular-consequence.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:molecular-consequence.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:molecular-consequence.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:copy-number",
"path" : "Observation.component",
"sliceName" : "copy-number",
"short" : "Genomic Structural Variant Copy Number",
"definition" : "The copy number of the large variant. In HGVS, this is the numeric value following the “Xâ€. It is a unit-less value. Note that a copy number of 1 can imply a deletion.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:copy-number.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:copy-number.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:copy-number.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:copy-number.code",
"path" : "Observation.component.code",
"short" : "82155-3",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "82155-3"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:copy-number.value[x]",
"path" : "Observation.component.value[x]",
"short" : "Actual component result",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "Quantity"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "cnt-3",
"severity" : "error",
"human" : "There SHALL be a code with a value of '1' if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number.",
"expression" : "(code.exists() or value.empty()) and (system.empty() or system = %ucum) and (code.empty() or code = '1') and (value.empty() or value.hasValue().not() or value.toString().contains('.').not())",
"source" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
}
],
"mustSupport" : true,
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:copy-number.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:copy-number.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:copy-number.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
},
{
"id" : "Observation.component:variant-confidence-status",
"path" : "Observation.component",
"sliceName" : "variant-confidence-status",
"short" : "Variant Confidence Status",
"definition" : "A code that represents the confidence of a true positive variant call.",
"comment" : "For a discussion on the ways Observations can be assembled in groups together see [Notes](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "BackboneElement"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"mapping" : [
{
"identity" : "v2",
"map" : "containment by OBX-4?"
},
{
"identity" : "rim",
"map" : "outBoundRelationship[typeCode=COMP]"
}
]
},
{
"id" : "Observation.component:variant-confidence-status.id",
"path" : "Observation.component.id",
"representation" : [
"xmlAttr"
],
"short" : "Unique id for inter-element referencing",
"definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Element.id",
"min" : 0,
"max" : "1"
},
"type" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}
],
"code" : "http://hl7.org/fhirpath/System.String"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:variant-confidence-status.extension",
"path" : "Observation.component.extension",
"short" : "Additional content defined by implementations",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias" : [
"extensions",
"user content"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Element.extension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "rim",
"map" : "n/a"
}
]
},
{
"id" : "Observation.component:variant-confidence-status.modifierExtension",
"path" : "Observation.component.modifierExtension",
"short" : "Extensions that cannot be ignored even if unrecognized",
"definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias" : [
"extensions",
"user content",
"modifiers"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "BackboneElement.modifierExtension",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "Extension"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key" : "ext-1",
"severity" : "error",
"human" : "Must have either extensions or value[x], not both",
"expression" : "extension.exists() != value.exists()",
"xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source" : "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier" : true,
"isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary" : true,
"mapping" : [
{
"identity" : "rim",
"map" : "N/A"
}
]
},
{
"id" : "Observation.component:variant-confidence-status.code",
"path" : "Observation.component.code",
"short" : "variant-confidence-status",
"definition" : "Describes what was observed. Sometimes this is called the observation \"code\".",
"comment" : "*All* code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.",
"requirements" : "Knowing what kind of observation is being made is essential to understanding the observation.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.code",
"min" : 1,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code" : "variant-confidence-status"
}
]
},
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationCode"
}
],
"strength" : "example",
"description" : "Codes identifying names of simple observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-codes"
},
"mapping" : [
{
"identity" : "w5",
"map" : "FiveWs.what[x]"
},
{
"identity" : "sct-concept",
"map" : "< 363787002 |Observable entity| OR \r< 386053000 |Evaluation procedure|"
},
{
"identity" : "v2",
"map" : "OBX-3"
},
{
"identity" : "rim",
"map" : "code"
}
]
},
{
"id" : "Observation.component:variant-confidence-status.value[x]",
"path" : "Observation.component.value[x]",
"short" : "High | Intermediate | Low",
"definition" : "The information determined as a result of making the observation, if the information has a simple value.",
"comment" : "Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.",
"requirements" : "An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Observation.component.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : true,
"binding" : {
"strength" : "required",
"valueSet" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "363714003 |Interprets| < 441742003 |Evaluation finding|"
},
{
"identity" : "v2",
"map" : "OBX.2, OBX.5, OBX.6"
},
{
"identity" : "rim",
"map" : "value"
},
{
"identity" : "sct-attr",
"map" : "363714003 |Interprets|"
}
]
},
{
"id" : "Observation.component:variant-confidence-status.dataAbsentReason",
"path" : "Observation.component.dataAbsentReason",
"short" : "Why the component result is missing",
"definition" : "Provides a reason why the expected value in the element Observation.component.value[x] is missing.",
"comment" : "\"Null\" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be \"detected\", \"not detected\", \"inconclusive\", or \"test not done\". \n\nThe alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code \"error\" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.",
"requirements" : "For many results it is necessary to handle exceptional values in measurements.",
"min" : 0,
"max" : "1",
"base" : {
"path" : "Observation.component.dataAbsentReason",
"min" : 0,
"max" : "1"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"condition" : [
"obs-6"
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationValueAbsentReason"
}
],
"strength" : "extensible",
"description" : "Codes specifying why the result (`Observation.value[x]`) is missing.",
"valueSet" : "http://hl7.org/fhir/ValueSet/data-absent-reason"
},
"mapping" : [
{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "value.nullFlavor"
}
]
},
{
"id" : "Observation.component:variant-confidence-status.interpretation",
"path" : "Observation.component.interpretation",
"short" : "High, low, normal, etc.",
"definition" : "A categorical assessment of an observation value. For example, high, low, normal.",
"comment" : "Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.",
"requirements" : "For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.",
"alias" : [
"Abnormal Flag"
],
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.interpretation",
"min" : 0,
"max" : "*"
},
"type" : [
{
"code" : "CodeableConcept"
}
],
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ObservationInterpretation"
}
],
"strength" : "extensible",
"description" : "Codes identifying interpretations of observations.",
"valueSet" : "http://hl7.org/fhir/ValueSet/observation-interpretation"
},
"mapping" : [
{
"identity" : "sct-concept",
"map" : "< 260245000 |Findings values|"
},
{
"identity" : "v2",
"map" : "OBX-8"
},
{
"identity" : "rim",
"map" : "interpretationCode"
},
{
"identity" : "sct-attr",
"map" : "363713009 |Has interpretation|"
}
]
},
{
"id" : "Observation.component:variant-confidence-status.referenceRange",
"path" : "Observation.component.referenceRange",
"short" : "Provides guide for interpretation of component result",
"definition" : "Guidance on how to interpret the value by comparison to a normal or recommended range.",
"comment" : "Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.",
"requirements" : "Knowing what values are considered \"normal\" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.",
"min" : 0,
"max" : "*",
"base" : {
"path" : "Observation.component.referenceRange",
"min" : 0,
"max" : "*"
},
"contentReference" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange",
"constraint" : [
{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier" : false,
"isSummary" : false,
"mapping" : [
{
"identity" : "v2",
"map" : "OBX.7"
},
{
"identity" : "rim",
"map" : "outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN]"
}
]
}
]
},
"differential" : {
"element" : [
{
"id" : "Observation",
"path" : "Observation"
},
{
"id" : "Observation.status",
"path" : "Observation.status",
"mustSupport" : true
},
{
"id" : "Observation.category",
"path" : "Observation.category",
"mustSupport" : true
},
{
"id" : "Observation.category:labCategory",
"path" : "Observation.category",
"sliceName" : "labCategory",
"patternCodeableConcept" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
}
},
{
"id" : "Observation.category:labCategory.coding",
"path" : "Observation.category.coding",
"max" : "1"
},
{
"id" : "Observation.code",
"path" : "Observation.code",
"mustSupport" : true
},
{
"id" : "Observation.subject",
"path" : "Observation.subject",
"type" : [
{
"code" : "Reference",
"targetProfile" : [
"http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-cancer-patient"
]
}
],
"mustSupport" : true
},
{
"id" : "Observation.effective[x]",
"path" : "Observation.effective[x]",
"slicing" : {
"discriminator" : [
{
"type" : "type",
"path" : "$this"
}
],
"ordered" : false,
"rules" : "open"
},
"mustSupport" : true
},
{
"id" : "Observation.effective[x]:effectiveDateTime",
"path" : "Observation.effective[x]",
"sliceName" : "effectiveDateTime",
"min" : 0,
"max" : "1",
"type" : [
{
"code" : "dateTime"
}
],
"mustSupport" : true
},
{
"id" : "Observation.value[x]",
"path" : "Observation.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.dataAbsentReason",
"path" : "Observation.dataAbsentReason",
"mustSupport" : true
},
{
"id" : "Observation.method",
"path" : "Observation.method",
"mustSupport" : true
},
{
"id" : "Observation.specimen",
"path" : "Observation.specimen",
"type" : [
{
"code" : "Reference",
"targetProfile" : [
"http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-human-specimen"
]
}
],
"mustSupport" : true
},
{
"id" : "Observation.referenceRange",
"path" : "Observation.referenceRange",
"short" : "Not used in this profile",
"definition" : "Not used in this profile"
},
{
"id" : "Observation.hasMember",
"path" : "Observation.hasMember",
"short" : "Not used in this profile",
"definition" : "Not used in this profile"
},
{
"id" : "Observation.component",
"path" : "Observation.component",
"mustSupport" : true
},
{
"id" : "Observation.component:gene-studied",
"path" : "Observation.component",
"sliceName" : "gene-studied",
"mustSupport" : true
},
{
"id" : "Observation.component:gene-studied.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:gene-studied.value[x]",
"path" : "Observation.component.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.component:cytogenetic-location",
"path" : "Observation.component",
"sliceName" : "cytogenetic-location",
"mustSupport" : true
},
{
"id" : "Observation.component:cytogenetic-location.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:cytogenetic-location.value[x]",
"path" : "Observation.component.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.component:genomic-hgvs",
"path" : "Observation.component",
"sliceName" : "genomic-hgvs",
"mustSupport" : true
},
{
"id" : "Observation.component:genomic-hgvs.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:genomic-hgvs.value[x]",
"path" : "Observation.component.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.component:cytogenomic-nomenclature",
"path" : "Observation.component",
"sliceName" : "cytogenomic-nomenclature",
"mustSupport" : true
},
{
"id" : "Observation.component:cytogenomic-nomenclature.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:cytogenomic-nomenclature.value[x]",
"path" : "Observation.component.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.component:coding-change-type",
"path" : "Observation.component",
"sliceName" : "coding-change-type",
"mustSupport" : true
},
{
"id" : "Observation.component:coding-change-type.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:coding-change-type.value[x]",
"path" : "Observation.component.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.component:genomic-source-class",
"path" : "Observation.component",
"sliceName" : "genomic-source-class",
"mustSupport" : true
},
{
"id" : "Observation.component:genomic-source-class.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:genomic-source-class.value[x]",
"path" : "Observation.component.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.component:sample-allelic-frequency",
"path" : "Observation.component",
"sliceName" : "sample-allelic-frequency",
"mustSupport" : true
},
{
"id" : "Observation.component:sample-allelic-frequency.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:sample-allelic-frequency.value[x]",
"path" : "Observation.component.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.component:allelic-state",
"path" : "Observation.component",
"sliceName" : "allelic-state",
"mustSupport" : true
},
{
"id" : "Observation.component:allelic-state.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:allelic-state.value[x]",
"path" : "Observation.component.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.component:variation-code",
"path" : "Observation.component",
"sliceName" : "variation-code",
"mustSupport" : true
},
{
"id" : "Observation.component:variation-code.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:variation-code.value[x]",
"path" : "Observation.component.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.component:protein-hgvs",
"path" : "Observation.component",
"sliceName" : "protein-hgvs",
"mustSupport" : true
},
{
"id" : "Observation.component:protein-hgvs.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:protein-hgvs.value[x]",
"path" : "Observation.component.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.component:amino-acid-change-type",
"path" : "Observation.component",
"sliceName" : "amino-acid-change-type",
"mustSupport" : true
},
{
"id" : "Observation.component:amino-acid-change-type.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:amino-acid-change-type.value[x]",
"path" : "Observation.component.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.component:molecular-consequence",
"path" : "Observation.component",
"sliceName" : "molecular-consequence",
"mustSupport" : true
},
{
"id" : "Observation.component:molecular-consequence.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:molecular-consequence.value[x]",
"path" : "Observation.component.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.component:copy-number",
"path" : "Observation.component",
"sliceName" : "copy-number",
"mustSupport" : true
},
{
"id" : "Observation.component:copy-number.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:copy-number.value[x]",
"path" : "Observation.component.value[x]",
"mustSupport" : true
}
]
}
}
XIG built as of ??metadata-date??. Found ??metadata-resources?? resources in ??metadata-packages?? packages.