MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 -
Germany
MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 -
Germany
MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht - Downloaded Version 2027.0.0-ballot.1 See the Directory of published versions
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"div" : "<div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: Procedure mii-exa-molgen-genomic-study-analysis-cornelia-de-lange</b></p><a name=\"mii-exa-molgen-genomic-study-analysis-cornelia-de-lange\"> </a><a name=\"hcmii-exa-molgen-genomic-study-analysis-cornelia-de-lange\"> </a><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\"/><p style=\"margin-bottom: 0px\">Profiles: <a href=\"StructureDefinition-mii-pr-molgen-genomic-study-analysis.html\">MII PR MolGen Genomic Study Analysis</a>, <a href=\"https://simplifier.net/resolve?scope=de.basisprofil.r4@1.6.0&canonical=https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1\">https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1</a></p></div><p><b>Genomic Study Analysis Specimen</b>: <a href=\"Specimen-mii-exa-molgen-specimen-2.html\">Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_02; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2021-11-24</a></p><blockquote><p><b>Genomic Study Analysis Device</b></p><ul><li>device: <a href=\"Device-mii-exa-molgen-device-sequencer-2.html\">Device: status = active; manufacturer = Illumina</a></li></ul></blockquote><p><b>Genomic Study Analysis Method Type</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">Sequencing</span></p><blockquote><p><b>Genomic Study Analysis Regions</b></p><ul><li>description: Cornelia de Lange Panel: Alle kodierenden Exons der Gene NIPBL, HDAC8, RAD21, SMC1A, SMC3, TP63</li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:28862}\">NIPBL</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:13315}\">HDAC8</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:9811}\">RAD21</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:11111}\">SMC1A</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:2468}\">SMC3</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:15979}\">TP63</span></li></ul></blockquote><p><b>status</b>: Completed</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-molgen-patient-2.html\">Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number\u00a0(use:\u00a0usual,\u00a0))</a></p></div>"
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