MII IG 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 in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Table of Contents

.. 0 Table of Contents
... 1 Home
... 2 Guidance
.... 2.1 Guidance for Implementers
.... 2.2 UML Diagrams
.... 2.3 Migration STU2 to STU3
... 3 Security and Privacy
... 4 Profiles
... 5 Extensions
... 6 Capability Statements
... 7 Search Parameters
... 8 Logical Models
... 9 Value Sets
... 10 Examples
... 11 Downloads
... 12 Changelog
... 13 Metadata Overview
... 14 Versioning
... 15 MII ImplementationGuide Resource
... 16 Translation Information
... 17 Artifacts Summary
.... 17.1 MII CPS MolGen CapabilityStatement
.... 17.2 mii-sp-molgen-diagnostic-report-genomic-study
.... 17.3 mii-sp-molgen-diagnostic-report-recommended-action
.... 17.4 mii-sp-molgen-genomic-study-analysis-device
.... 17.5 mii-sp-molgen-genomic-study-analysis-method
.... 17.6 mii-sp-molgen-genomic-study-analysis-regions-studied
.... 17.7 mii-sp-molgen-genomic-study-analysis-specimen
.... 17.8 MII LM MolGen LogicalModel
.... 17.9 MII PR MolGen Anforderung genetischer Test
.... 17.10 MII PR MolGen Diagnostische Implikation
.... 17.11 MII PR MolGen Empfohlene Folgemaßnahme
.... 17.12 MII PR MolGen Familienanamnese
.... 17.13 MII PR MolGen Genomic Study
.... 17.14 MII PR MolGen Genomic Study Analysis
.... 17.15 MII PR MolGen Genotyp
.... 17.16 MII PR MolGen Medikationsempfehlung
.... 17.17 MII PR MolGen Mikrosatelliteninstabilität
.... 17.18 MII PR MolGen Molekulare Konsequenz
.... 17.19 MII PR MolGen Molekularer Biomarker
.... 17.20 MII PR MolGen Molekulargenetischer Befundbericht
.... 17.21 MII PR MolGen Mutationslast
.... 17.22 MII PR MolGen Polygener Risiko Score
.... 17.23 MII PR MolGen Therapeutische Implikation
.... 17.24 MII PR MolGen Variante
.... 17.25 MII EX Mol Gen Verwandtschaftsgrad
.... 17.26 MII EX MolGen Empfohlene Maßnahme
.... 17.27 MII EX MolGen Familiare Linie
.... 17.28 MII EX MolGen RiskAssessment Einflussfaktor
.... 17.29 MII EX MolGen Verwandtschaftsverhaeltnis
.... 17.30 MII VS Mol Gen Verwandtschaftsgrad
.... 17.31 MII VS MolGen Familiäre Linie
.... 17.32 MII VS MolGen Family Member SNOMED
.... 17.33 MII VS MolGen Verwandtschaftsverhaeltnis
.... 17.34 Agilent SureSelect Human All Exon V7 Protocol
.... 17.35 Anforderung BRAF Genetische Testung
.... 17.36 Anforderung Molekulargenetische Diagnose eines Cornelia de Lange-Syndrom
.... 17.37 Anforderung Molekulargenetische Diagnose Familiäre Belastung für Brust- und Eierstockkrebs
.... 17.38 Anforderung Whole Exome Sequencing
.... 17.39 BED File for Target Regions
.... 17.40 Beispiel Mutationslast in Tumorprobe
.... 17.41 BRAF Empfohlene Folgemaßnahme
.... 17.42 BRAF Variante
.... 17.43 BRAF Variante Diagnostische Implikation
.... 17.44 BRAF Variante Medikationsempfehlung
.... 17.45 BRAF Variante Molekulare Konsequenz
.... 17.46 BRAF Variante Therapeutische Implikation
.... 17.47 CNV SMO Diagnostische Implikation
.... 17.48 CNV SMO Molekulare Konsequenz
.... 17.49 Comprehensive WES Bundle with Full Technical Documentation
.... 17.50 Comprehensive WES Report with Full Technical Documentation
.... 17.51 Comprehensive Whole Exome Sequencing Study
.... 17.52 Coverage Plot
.... 17.53 Diagnostic Implication for KMT2A Variant
.... 17.54 Diagnostische Implikation BRCA1 Variante
.... 17.55 DNA Library
.... 17.56 EDTA Blood Sample
.... 17.57 Empfohlene Folgemaßnahme bei BRCA1 Variante
.... 17.58 Family History - Father with Type 2 Diabetes
.... 17.59 Family History - Mother with Myocardial Infarction
.... 17.60 Family History - Sister with Retinal Disorder
.... 17.61 FASTQ Sequencing Files
.... 17.62 FFPE-Tumorgewebe (NSCLC) fuer TSO500
.... 17.63 Genomic Study Analysis BRAF
.... 17.64 Genomic Study Analysis Cornelia de Lange Panel
.... 17.65 Genomic Study Analysis TruRisk Panel v3
.... 17.66 Genomic Study Cornelia de Lange Panel
.... 17.67 Genomic Study TruRisk Panel v3
.... 17.68 Genomic Study TSO500 NSCLC
.... 17.69 Genotyp BRAF
.... 17.70 Genotyp BRCA1
.... 17.71 Genotyp NIPBL
.... 17.72 Illumina NovaSeq 6000 Sequencer
.... 17.73 Ion Chef System
.... 17.74 KMT2A Pathogenic Variant from WES
.... 17.75 mii-exa-befund-bundle-1-braf
.... 17.76 mii-exa-befund-bundle-befund-2-nipbl-clinical
.... 17.77 mii-exa-befund-bundle-befund-fgfr2-fusion
.... 17.78 mii-exa-befund-bundle-befund-srcc
.... 17.79 mii-exa-molgen-anforderung-fgfr2-fusion
.... 17.80 mii-exa-molgen-anforderung-srcc
.... 17.81 mii-exa-molgen-befundbericht-fgfr2-fusion
.... 17.82 mii-exa-molgen-befundbericht-srcc
.... 17.83 mii-exa-molgen-bundle-befund-2-nipbl
.... 17.84 mii-exa-molgen-bundle-befund-2-nipbl-condition-lab
.... 17.85 mii-exa-molgen-bundle-fam-his-breast-ovar-can
.... 17.86 mii-exa-molgen-chargeitem-ebm-21
.... 17.87 mii-exa-molgen-chargeitem-ebm-22
.... 17.88 mii-exa-molgen-chargeitem-ebm-23
.... 17.89 mii-exa-molgen-chargeitem-ebm-24
.... 17.90 mii-exa-molgen-condition-nipbl-clinical
.... 17.91 mii-exa-molgen-device-sequencer
.... 17.92 mii-exa-molgen-device-sequencer-2
.... 17.93 mii-exa-molgen-device-sequencer-nextseq
.... 17.94 mii-exa-molgen-diagnostische-implikation-fgfr2-fusion
.... 17.95 mii-exa-molgen-diagnostische-implikation-srcc-ctnna1
.... 17.96 mii-exa-molgen-family-member-history-1
.... 17.97 mii-exa-molgen-family-member-history-2
.... 17.98 mii-exa-molgen-family-member-history-srcc
.... 17.99 mii-exa-molgen-medikationsempfehlung-fgfr2-fusion
.... 17.100 mii-exa-molgen-patient
.... 17.101 mii-exa-molgen-patient-2
.... 17.102 mii-exa-molgen-patient-brca1
.... 17.103 mii-exa-molgen-patient-fgfr2-fusion
.... 17.104 mii-exa-molgen-patient-srcc
.... 17.105 mii-exa-molgen-phenotypic-feature-1
.... 17.106 mii-exa-molgen-phenotypic-feature-2
.... 17.107 mii-exa-molgen-phenotypic-feature-3
.... 17.108 mii-exa-molgen-phenotypic-feature-4
.... 17.109 mii-exa-molgen-practitioner-lab
.... 17.110 mii-exa-molgen-practitioner-physician
.... 17.111 mii-exa-molgen-specimen-1
.... 17.112 mii-exa-molgen-specimen-2
.... 17.113 mii-exa-molgen-specimen-brca1
.... 17.114 mii-exa-molgen-specimen-srcc
.... 17.115 mii-exa-molgen-specimen-srcc-2
.... 17.116 mii-exa-molgen-therapeutische-implikation-fgfr2-fusion
.... 17.117 mii-exa-molgen-variante-srcc-ctnna1
.... 17.118 Mikrosatelliteninstabilität
.... 17.119 Molekulare Konsequenz BRCA1 Variante
.... 17.120 Molekulargentischer Befund 1: BRAF mutiert colorektales Adenokarzinom
.... 17.121 Molekulargentischer Befund 1: BRAF mutiert colorektales Adenokarzinom
.... 17.122 Molekulargentischer Befund 2: Molekulargenetische Diagnose eines Cornelia de Lange-Syndrom autosomal dominanter Erbgang
.... 17.123 Molekulargentischer Befund 3: Tumorboard Genfusion
.... 17.124 Molekulargentischer Befund Familiäre Belastung für Brust- und Eierstockkrebs
.... 17.125 NIPBL Variante
.... 17.126 NIPBL Variante Diagnostische Implikation
.... 17.127 NIPBL Variante Molekulare Konsequenz
.... 17.128 Ordering Practitioner
.... 17.129 Polygener Risiko Score BRCA1 Variante
.... 17.130 TruSight Oncology 500 v2 Panel (DeviceDefinition)
.... 17.131 TSO500 Library Preparation
.... 17.132 TSO500 Sequencing on NovaSeq 6000
.... 17.133 TSO500 v2 Kit Lot 20240518
.... 17.134 Variante BRCA1
.... 17.135 Variante FGFR2-DBP Fusion
.... 17.136 Variante SMO CNV
.... 17.137 WES Bioinformatics Analysis
.... 17.138 WES Library Preparation Analysis
.... 17.139 WES Sequencing Analysis
.... 17.140 mii-param-molgen-manifest