MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 -
Germany
MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 -
Germany
This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions
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🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/anforderung-genetischer-test|2027.0.0-ballot.1"
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"div" : "<div xml:lang=\"de\" lang=\"de\"><hr/><p><b>German</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: ServiceRequest mii-exa-molgen-anforderung-2</b></p><a name=\"de-mii-exa-molgen-anforderung-2\"> </a><a name=\"de-hcmii-exa-molgen-anforderung-2\"> </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\">Profile: <a href=\"StructureDefinition-mii-pr-molgen-anforderung-genetischer-test.html\">MII PR MolGen Anforderung genetischer Test</a> version: 2027.0.0-ballot.1</p></div><p><b>identifier</b>: <code>https://www.charite.de/fhir/auftragsnummern</code>/gen_test_02</p><p><b>status</b>: Active</p><p><b>intent</b>: Order</p><p><b>category</b>: <span title=\"Codes:{http://snomed.info/sct 108252007}\">Laboratory procedure (procedure)</span></p><p><b>code</b>: <span title=\"Codes:{http://snomed.info/sct 405825005}, {http://loinc.org 40428-5}, {http://www.genenames.org/geneId HGNC:28862}\">Molekulargenetische Diagnose eines Cornelia de Lange-Syndrom (MIM122470),autosomal dominanter Erbgang</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-molgen-patient-2.html\">Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Krankenaktennummer\u00a0(use:\u00a0usual,\u00a0))</a></p><p><b>authoredOn</b>: 2022-03-16</p><p><b>requester</b>: <a href=\"Practitioner-mii-exa-molgen-practitioner-physician.html\">Practitioner Dr. Linda Rubens(official)</a></p><p><b>reasonCode</b>: <span title=\"Codes:{http://snomed.info/sct 395507008}\">Premature infant (finding)</span>, <span title=\"Codes:{http://snomed.info/sct 276610007}, {http://human-phenotype-ontology.org HP:0001518}\">Low birth weight infant (disorder)</span>, <span title=\"Codes:{http://snomed.info/sct 431265009}, {http://human-phenotype-ontology.org HP:0000252}\">Fetal microcephaly (disorder)</span>, <span title=\"Codes:{http://snomed.info/sct 137511000119103}, {http://human-phenotype-ontology.org HP:0003560}\">Carrier of muscular dystrophy (finding)</span>, <span title=\"Codes:{http://human-phenotype-ontology.org HP:0000527}\">Long eyelashes</span></p><p><b>reasonReference</b>: </p><ul><li><a href=\"Observation-mii-exa-molgen-phenotypic-feature-1.html\">Observation Long eyelashes</a></li><li><a href=\"Observation-mii-exa-molgen-phenotypic-feature-2.html\">Observation Small for gestational age</a></li><li><a href=\"Observation-mii-exa-molgen-phenotypic-feature-3.html\">Observation Microcephaly</a></li><li><a href=\"Observation-mii-exa-molgen-phenotypic-feature-4.html\">Observation Muscular dystrophy</a></li></ul><p><b>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></div>"
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"text" : "Molekulargenetische Diagnose eines Cornelia de Lange-Syndrom (MIM122470),autosomal dominanter Erbgang"
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🔗 "reference" : "Observation/mii-exa-molgen-phenotypic-feature-3"
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