This page is part of the FHIR Specification (v4.3.0: R4B - STU). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R4 R3
Clinical Genomics Work Group | Maturity Level: N/A | Standards Status: Informative | Compartments: Patient |
Raw XML (canonical form + also see XML Format Specification)
Example of a TPMT SNP data that support a haplotype observation (id = "example-TPMT-one")
<?xml version="1.0" encoding="UTF-8"?> <MolecularSequence xmlns="http://hl7.org/fhir"> <id value="example-TPMT-one"/> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p> <b> Generated Narrative</b> </p> <div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px">Resource "example-TPMT-one" </p> </div> <p> <b> type</b> : dna</p> <p> <b> coordinateSystem</b> : 1</p> <p> <b> patient</b> : <a href="patient-example.html">Patient/example</a> "Peter CHALMERS"</p> <h3> ReferenceSeqs</h3> <table class="grid"><tr> <td> -</td> <td> <b> ReferenceSeqId</b> </td> <td> <b> Strand</b> </td> <td> <b> WindowStart</b> </td> <td> <b> WindowEnd</b> </td> </tr> <tr> <td> *</td> <td> NT_007592.15 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (nuccore#NT_007592.15)</span> </td> <td> watson</td> <td> 18130918</td> <td> 18143955</td> </tr> </table> <h3> Variants</h3> <table class="grid"><tr> <td> -</td> <td> <b> Start</b> </td> <td> <b> End</b> </td> <td> <b> ObservedAllele</b> </td> <td> <b> ReferenceAllele</b> </td> </tr> <tr> <td> *</td> <td> 18139214</td> <td> 18139214</td> <td> A</td> <td> G</td> </tr> </table> <p> <b> observedSeq</b> : T-C-C-C-A-C-C-C</p> </div> </text> <type value="dna"/> <coordinateSystem value="1"/> <patient> <reference value="Patient/example"/> </patient> <referenceSeq> <referenceSeqId> <coding> <system value="http://www.ncbi.nlm.nih.gov/nuccore"/> <code value="NT_007592.15"/> </coding> </referenceSeqId> <strand value="watson"/> <windowStart value="18130918"/> <windowEnd value="18143955"/> </referenceSeq> <variant> <start value="18139214"/> <end value="18139214"/> <observedAllele value="A"/> <referenceAllele value="G"/> </variant> <observedSeq value="T-C-C-C-A-C-C-C"/> </MolecularSequence>
Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.