This page is part of the FHIR Specification (v4.5.0: R5 Preview #3). 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 another TPMT SNP data that support a haplotype observation (id = "example-TPMT-two")
<?xml version="1.0" encoding="UTF-8"?> <MolecularSequence xmlns="http://hl7.org/fhir"> <id value="example-TPMT-two"/> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p> <b> Generated Narrative</b> </p> <p> <b> id</b> : example-TPMT-two</p> <p> <b> type</b> : dna</p> <p> <b> coordinateSystem</b> : 1</p> <p> <b> patient</b> : <a> Generated Summary: id: example; Medical record number: 12345 (USUAL); active; Peter James Chalmers (OFFICIAL), Jim , Peter James Windsor (MAIDEN); -unknown-(HOME), ph: (03) 5555 6473(WORK), ph: (03) 3410 5613(MOBILE), ph: (03) 5555 8834(OLD); gender: male; birthDate: 1974-12-25; </a> </p> <h3> ReferenceSeqs</h3> <table> <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> <span> NT_007592.15</span> </td> <td> watson</td> <td> 18130918</td> <td> 18143955</td> </tr> </table> <h3> Variants</h3> <table> <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> 18131012</td> <td> 18131012</td> <td> T</td> <td> C</td> </tr> </table> <p> <b> observedSeq</b> : T-C-T-C-G-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="18131012"/> <end value="18131012"/> <observedAllele value="T"/> <referenceAllele value="C"/> </variant> <observedSeq value="T-C-T-C-G-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.