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
{
"resourceType" : "Procedure",
"id" : "mii-exa-molgen-genomic-study-analysis-cornelia-de-lange",
"meta" : {
"profile" : [
🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-genomic-study-analysis",
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1"
]
},
"language" : "de",
"text" : {
"status" : "extensions",
"div" : "<div xml:lang=\"de\" lang=\"de\"><hr/><p><b>German</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=\"de-mii-exa-molgen-genomic-study-analysis-cornelia-de-lange\"> </a><a name=\"de-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 ( Krankenaktennummer\u00a0(use:\u00a0usual,\u00a0))</a></p></div>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen",
"valueReference" : {
🔗 "reference" : "Specimen/mii-exa-molgen-specimen-2"
}
},
{
"extension" : [
{
"url" : "device",
"valueReference" : {
🔗 "reference" : "Device/mii-exa-molgen-device-sequencer-2"
}
}
],
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
},
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA26398-0",
"display" : "Sequencing"
}
]
}
},
{
"extension" : [
{
"url" : "description",
"valueString" : "Cornelia de Lange Panel: Alle kodierenden Exons der Gene NIPBL, HDAC8, RAD21, SMC1A, SMC3, TP63"
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:28862",
"display" : "NIPBL"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:13315",
"display" : "HDAC8"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:9811",
"display" : "RAD21"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:11111",
"display" : "SMC1A"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:2468",
"display" : "SMC3"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:15979",
"display" : "TP63"
}
]
}
}
],
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
}
],
"status" : "completed",
"category" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-molgen-patient-2"
}
}