MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot - Germany

This page is part of the MII Implementation Guide Seltene Erkrankungen (v2027.0.0-ballot: 2027 Ballot 1) 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

Resource Profile: MII PR SE Genetic Diagnosis - Mappings

Active as of 2026-09-14

Mappings for the mii-pr-seltene-genetic-diagnosis resource profile.

Mappings to Structures in this Implementation Guide

NameMapping FHIR zu Seltene Erkrankungen Logical Modeldoco
.. Condition
anamneseUndDiagnostik.genetischeDiagnose
Genetische Diagnose
... id
... meta
.... id
.... extension
.... versionId
.... lastUpdated
.... source
.... profile
.... security
.... tag
... implicitRules
... text
... contained
... Slices for extension
.... extension:ReferenzPrimaerdiagnose
..... id
..... extension
..... url
..... value[x]
.... extension:Feststellungsdatum
..... id
..... extension
..... url
..... value[x]
anamneseUndDiagnostik.genetischeDiagnose.feststellungsdatumGenDia
Feststellungsdatum genetische SE-Diagnose
.... extension:penetrance
anamneseUndDiagnostik.genDiaFehlendePenetranz
Genetische Diagnose mit fehlender Penetranz
... modifierExtension
... identifier
... clinicalStatus
.... id
.... extension
.... coding
..... id
..... extension
..... system
..... version
..... code
..... display
..... userSelected
.... text
... verificationStatus
.... id
.... extension
.... coding
..... id
..... extension
..... system
..... version
..... code
..... display
..... userSelected
.... text
... category
... severity
... code
.... id
.... extension
.... Slices for coding
..... coding:icd10-gm
anamneseUndDiagnostik.genetischeDiagnose
ICD-10-GM Diagnose
...... id
...... Slices for extension
...... Slices for extension
....... extension:Mehrfachcodierungs-Kennzeichen
........ id
........ extension
........ url
........ value[x]
......... id
......... extension
......... system
......... version
......... code
......... display
......... userSelected
....... extension:Seitenlokalisation
........ id
........ extension
........ url
........ value[x]
......... id
......... extension
......... system
......... version
......... code
......... display
......... userSelected
....... extension:Diagnosesicherheit
........ id
........ extension
........ url
........ value[x]
......... id
......... extension
......... system
......... version
......... code
......... display
......... userSelected
...... system
...... version
...... code
...... display
...... userSelected
..... coding:alpha-id
...... id
...... extension
...... system
...... version
...... code
...... display
...... userSelected
..... coding:sct
...... id
...... extension
...... system
...... version
...... code
...... display
...... userSelected
..... coding:orphanet
anamneseUndDiagnostik.genetischeDiagnose
Orpha-Code Diagnose
...... id
...... extension
...... system
...... version
...... code
...... display
...... userSelected
..... coding:omim
anamneseUndDiagnostik.genetischeDiagnose.omimCode
OMIM-Code der Erkrankung
...... id
...... extension
...... system
...... version
...... code
...... display
...... userSelected
.... text
... bodySite
.... id
.... Slices for extension
..... extension:bodySite
.... Slices for coding
..... coding:snomed-ct
...... id
...... extension
...... system
...... version
...... code
...... display
...... userSelected
.... text
... subject
persoenlicheInfosIndexpatient
Patient/Indexpatient
.... id
.... extension
.... reference
.... type
.... identifier
.... display
... encounter
anamneseUndDiagnostik.untersuchungsdatum
Untersuchungsdatum
.... id
.... extension
.... reference
.... type
.... identifier
.... display
... Slices for onset[x]
anamneseUndDiagnostik.genetischeDiagnose.alterGenDia
Alter/Zeitpunkt bei genetischer SE-Diagnose
.... onset[x]:onsetDateTime
anamneseUndDiagnostik.genetischeDiagnose.feststellungsdatumGenDia
Feststellungsdatum genetische SE-Diagnose
.... onset[x]:onsetAge
..... id
..... Slices for extension
..... Slices for extension
...... extension:Lebensphase-Beginn
....... id
....... extension
....... url
....... value[x]
........ id
........ extension
........ coding
......... id
......... extension
......... system
......... version
......... code
......... display
......... userSelected
........ text
..... value
..... comparator
..... unit
..... system
..... code
... Slices for abatement[x]
.... abatement[x]:abatementDateTime
.... abatement[x]:abatementAge
..... id
..... Slices for extension
..... Slices for extension
...... extension:Lebensphase-Ende
....... id
....... extension
....... url
....... value[x]
........ id
........ extension
........ coding
......... id
......... extension
......... system
......... version
......... code
......... display
......... userSelected
........ text
..... value
..... comparator
..... unit
..... system
..... code
... recordedDate
... recorder
... asserter
... stage
.... id
.... extension
.... modifierExtension
.... summary
.... assessment
.... type
... evidence
.... id
.... extension
.... modifierExtension
.... code
anamneseUndDiagnostik.methodeDiagnosestellung
Methode der Diagnosestellung
..... id
..... extension
..... Slices for coding
...... coding:geneticEvidence
..... text
.... detail
Verweis auf MolGen Variante/DiagnostischeImplikation
Genetische Befunde
... note

doco Documentation for this format

Mappings to other Structures

No Mappings Found

Other Mappings

NameWorkflow PatternSNOMED CT Concept Domain BindingHL7 v2 MappingFiveWs Pattern MappingSNOMED CT Attribute Bindingdoco
.. Condition
Event
246090004 |Associated finding| = ( ( < 404684003 |Clinical finding| MINUS ( << 420134006 |Propensity to adverse reactions| OR << 473010000 |Hypersensitivity condition| OR << 79899007 |Drug interaction| OR << 69449002 |Drug action| OR << 441742003 |Evaluation finding| OR << 307824009 |Administrative status| OR << 385356007 |Tumor stage finding|)) OR < 272379006 |Event|)
PPR message
... id
... meta
.... id
.... extension
.... versionId
.... lastUpdated
.... source
.... profile
.... security
.... tag
... implicitRules
... text
... contained
... Slices for extension
.... extension:ReferenzPrimaerdiagnose
..... id
..... extension
..... url
..... value[x]
.... extension:Feststellungsdatum
..... id
..... extension
..... url
..... value[x]
.... extension:penetrance
... modifierExtension
... identifier
Event.identifier
FiveWs.identifier
... clinicalStatus
Event.status
< 303105007 |Disease phases|
PRB-14
FiveWs.status
.... id
.... extension
.... coding
  • C*E.1-8
  • C*E.10-22
..... id
..... extension
..... system
C*E.3
..... version
C*E.7
..... code
C*E.1
..... display
C*E.2 - but note this is not well followed
..... userSelected
Sometimes implied by being first
.... text
C*E.9. But note many systems use C*E.2 for this
... verificationStatus
Event.status
< 410514004 |Finding context value|
PRB-13
FiveWs.status
408729009
.... id
.... extension
.... coding
  • C*E.1-8
  • C*E.10-22
..... id
..... extension
..... system
C*E.3
..... version
C*E.7
..... code
C*E.1
..... display
C*E.2 - but note this is not well followed
..... userSelected
Sometimes implied by being first
.... text
C*E.9. But note many systems use C*E.2 for this
... category
< 404684003 |Clinical finding|
'problem' if from PRB-3. 'diagnosis' if from DG1 segment in PV1 message
FiveWs.class
... severity
< 272141005 |Severities|
PRB-26 / ABS-3
FiveWs.grade
246112005
... code
Event.code
code 246090004 |Associated finding| (< 404684003 |Clinical finding| MINUS << 420134006 |Propensity to adverse reactions| MINUS << 473010000 |Hypersensitivity condition| MINUS << 79899007 |Drug interaction| MINUS << 69449002 |Drug action| MINUS << 441742003 |Evaluation finding| MINUS << 307824009 |Administrative status| MINUS << 385356007 |Tumor stage finding|) OR < 413350009 |Finding with explicit context| OR < 272379006 |Event|
PRB-3
FiveWs.what[x]
246090004
.... id
.... extension
.... Slices for coding
  • C*E.1-8
  • C*E.10-22
..... coding:icd10-gm
  • C*E.1-8
  • C*E.10-22
...... id
...... Slices for extension
...... Slices for extension
....... extension:Mehrfachcodierungs-Kennzeichen
........ id
........ extension
........ url
........ value[x]
......... id
......... extension
......... system
C*E.3
......... version
C*E.7
......... code
C*E.1
......... display
C*E.2 - but note this is not well followed
......... userSelected
Sometimes implied by being first
....... extension:Seitenlokalisation
........ id
........ extension
........ url
........ value[x]
......... id
......... extension
......... system
C*E.3
......... version
C*E.7
......... code
C*E.1
......... display
C*E.2 - but note this is not well followed
......... userSelected
Sometimes implied by being first
....... extension:Diagnosesicherheit
........ id
........ extension
........ url
........ value[x]
......... id
......... extension
......... system
C*E.3
......... version
C*E.7
......... code
C*E.1
......... display
C*E.2 - but note this is not well followed
......... userSelected
Sometimes implied by being first
...... system
C*E.3
...... version
C*E.7
...... code
C*E.1
...... display
C*E.2 - but note this is not well followed
...... userSelected
Sometimes implied by being first
..... coding:alpha-id
  • C*E.1-8
  • C*E.10-22
...... id
...... extension
...... system
C*E.3
...... version
C*E.7
...... code
C*E.1
...... display
C*E.2 - but note this is not well followed
...... userSelected
Sometimes implied by being first
..... coding:sct
  • C*E.1-8
  • C*E.10-22
...... id
...... extension
...... system
C*E.3
...... version
C*E.7
...... code
C*E.1
...... display
C*E.2 - but note this is not well followed
...... userSelected
Sometimes implied by being first
..... coding:orphanet
  • C*E.1-8
  • C*E.10-22
...... id
...... extension
...... system
C*E.3
...... version
C*E.7
...... code
C*E.1
...... display
C*E.2 - but note this is not well followed
...... userSelected
Sometimes implied by being first
..... coding:omim
  • C*E.1-8
  • C*E.10-22
...... id
...... extension
...... system
C*E.3
...... version
C*E.7
...... code
C*E.1
...... display
C*E.2 - but note this is not well followed
...... userSelected
Sometimes implied by being first
.... text
C*E.9. But note many systems use C*E.2 for this
... bodySite
< 442083009 |Anatomical or acquired body structure|
363698007
.... id
.... Slices for extension
..... extension:bodySite
.... Slices for coding
  • C*E.1-8
  • C*E.10-22
..... coding:snomed-ct
  • C*E.1-8
  • C*E.10-22
...... id
...... extension
...... system
C*E.3
...... version
C*E.7
...... code
C*E.1
...... display
C*E.2 - but note this is not well followed
...... userSelected
Sometimes implied by being first
.... text
C*E.9. But note many systems use C*E.2 for this
... subject
Event.subject
PID-3
FiveWs.subject
.... id
.... extension
.... reference
.... type
.... identifier
.... display
... encounter
Event.context
PV1-19 (+PV1-54)
FiveWs.context
.... id
.... extension
.... reference
.... type
.... identifier
.... display
... Slices for onset[x]
Event.occurrence[x]
PRB-16
FiveWs.init
.... onset[x]:onsetDateTime
Event.occurrence[x]
PRB-16
FiveWs.init
.... onset[x]:onsetAge
Event.occurrence[x]
PRB-16
FiveWs.init
..... id
..... Slices for extension
..... Slices for extension
...... extension:Lebensphase-Beginn
....... id
....... extension
....... url
....... value[x]
........ id
........ extension
........ coding
  • C*E.1-8
  • C*E.10-22
......... id
......... extension
......... system
C*E.3
......... version
C*E.7
......... code
C*E.1
......... display
C*E.2 - but note this is not well followed
......... userSelected
Sometimes implied by being first
........ text
C*E.9. But note many systems use C*E.2 for this
..... value
SN.2 / CQ - N/A
..... comparator
SN.1 / CQ.1
..... unit
(see OBX.6 etc.) / CQ.2
..... system
(see OBX.6 etc.) / CQ.2
..... code
(see OBX.6 etc.) / CQ.2
... Slices for abatement[x]
FiveWs.done[x]
.... abatement[x]:abatementDateTime
FiveWs.done[x]
.... abatement[x]:abatementAge
FiveWs.done[x]
..... id
..... Slices for extension
..... Slices for extension
...... extension:Lebensphase-Ende
....... id
....... extension
....... url
....... value[x]
........ id
........ extension
........ coding
  • C*E.1-8
  • C*E.10-22
......... id
......... extension
......... system
C*E.3
......... version
C*E.7
......... code
C*E.1
......... display
C*E.2 - but note this is not well followed
......... userSelected
Sometimes implied by being first
........ text
C*E.9. But note many systems use C*E.2 for this
..... value
SN.2 / CQ - N/A
..... comparator
SN.1 / CQ.1
..... unit
(see OBX.6 etc.) / CQ.2
..... system
(see OBX.6 etc.) / CQ.2
..... code
(see OBX.6 etc.) / CQ.2
... recordedDate
REL-11
FiveWs.recorded
... recorder
FiveWs.author
... asserter
REL-7.1 identifier + REL-7.12 type code
FiveWs.source
... stage
.... id
.... extension
.... modifierExtension
.... summary
< 254291000 |Staging and scales|
PRB-14
.... assessment
.... type
... evidence
.... id
.... extension
.... modifierExtension
.... code
Event.reasonCode
< 404684003 |Clinical finding|
FiveWs.why[x]
..... id
..... extension
..... Slices for coding
  • C*E.1-8
  • C*E.10-22
...... coding:geneticEvidence
  • C*E.1-8
  • C*E.10-22
..... text
C*E.9. But note many systems use C*E.2 for this
.... detail
FiveWs.why[x]
... note
Event.note
NTE child of PRB

doco Documentation for this format