MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 -
Germany
MII Implementierungsleitfaden 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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🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/diagnostische-implikation|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: Observation mii-exa-molgen-diagnostische-implikation-2</b></p><a name=\"de-mii-exa-molgen-diagnostische-implikation-2\"> </a><a name=\"de-hcmii-exa-molgen-diagnostische-implikation-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\">Profiles: <a href=\"StructureDefinition-mii-pr-molgen-diagnostische-implikation.html\">MII PR MolGen Diagnostische Implikation</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-diagnostic-implication.html\">Diagnostic Implication</a> version: 3.0.0</p></div><p><b>Related artifact</b>: No display for RelatedArtifact (type: citation; citation: Richards et al., Genet Med. 2015; 17:405-24; url: https://doi.org/10.1038/gim.2015.30)</p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetik</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</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>effective</b>: 2022-03-16</p><p><b>performer</b>: <a href=\"Practitioner-mii-exa-molgen-practitioner-lab.html\">Practitioner Dr. Daniel Schmidt(official)</a></p><p><b>derivedFrom</b>: <a href=\"Observation-mii-exa-molgen-variante-2.html\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs conclusion-string}\">Conclusion Text</span></p><p><b>value</b>: Nachweis einer pathogenen Variante im NIPBL-Gen in heterozygoter Form.</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6668-3}\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs condition-inheritance}\">Condition Inheritance</span></p><p><b>value</b>: <span title=\"Codes:{http://human-phenotype-ontology.org HP:0000006}\">Autosomal dominant inheritance</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 40354009}\">De Lange syndrome (disorder)</span></p></blockquote></div>"
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