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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],
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"display" : "Diagnostic Implication"
}
]
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-molgen-patient-brca1"
},
"effectiveDateTime" : "2022-11-01",
"performer" : [
{
🔗 "reference" : "Practitioner/mii-exa-molgen-practitioner-lab"
}
],
"derivedFrom" : [
{
🔗 "reference" : "Observation/mii-exa-molgen-variante-brca1"
}
],
"component" : [
{
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"valueString" : "Nachweis heterozygoter Sequenzveränderung, die zum Funktionsverlust führt"
},
{
"code" : {
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{
"system" : "http://loinc.org",
"code" : "53037-8",
"display" : "Genetic variation clinical significance [Imp]"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA6668-3",
"display" : "Pathogenic"
}
]
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "81259-4"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0003002",
"display" : "Breast carcinoma"
},
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0100615",
"display" : "Ovarian neoplasm"
}
]
}
},
{
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"system" : "http://loinc.org",
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}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs",
"code" : "2-star",
"display" : "2 star"
}
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},
"request" : {
"method" : "PUT",
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}
]
}