MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
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
Language: de
Bundle mii-exa-seltene-bundle-marfan-complete of type transaction
Entry 1 - fullUrl = urn:uuid:546740dd-771d-41e4-a2a5-e8d6a2b5c505
Resource Patient:
Language: de
Anonymous Patient Male, DoB: 2005-01-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#MRF-2024-001)
Request:
POST Patient
Entry 2 - fullUrl = urn:uuid:12b18efe-aae8-4039-9e2c-466ee0cb0ce0
Resource Condition:
Language: de
Profile: MII PR SE Clinical Diagnosis version: 2027.0.0-ballot
Condition Asserted Date: 2024-12-10
clinicalStatus: Active
verificationStatus: Provisional
category: Encounter Diagnosis
code: Verdacht auf Marfan-Syndrom
recordedDate: 2024-12-10
note:
Verdacht auf Marfan-Syndrom aufgrund klinischer Präsentation
Request:
POST Condition
Entry 3 - fullUrl = urn:uuid:6842a03b-9adc-4cb7-9126-85d317203e7b
Resource Condition:
Language: de
Profile: MII PR SE Clinical Diagnosis version: 2027.0.0-ballot
Condition Asserted Date: 2024-12-15
clinicalStatus: Active
verificationStatus: Confirmed
category: Encounter Diagnosis
code: Marfan-Syndrom
recordedDate: 2024-12-15
evidence
evidence
evidence
evidence
evidence
evidence
evidence
evidence
evidence
evidence
evidence
evidence
note:
Marfan-Syndrom klinisch diagnostiziert basierend auf kardialen Befunden, Skelettmerkmalen und ophthalmologischer Manifestation
Request:
POST Condition
Entry 4 - fullUrl = urn:uuid:23bd27f8-f2b5-4bc9-8fa3-078c26bc64a2
Resource Condition:
Language: de
Profile: MII PR SE Genetic Diagnosis version: 2027.0.0-ballot
Condition Asserted Date: 2024-12-20
clinicalStatus: Active
verificationStatus: Confirmed
category: Genetic disease
code: Marfan-Syndrom - genetisch bestätigt
recordedDate: 2024-12-20
evidence
evidence
note:
FBN1-Mutation c.3217G>A (p.Gly1073Arg) nachgewiesen, krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose.
Request:
POST Condition
Entry 5 - fullUrl = urn:uuid:f584ef12-6225-4e71-9186-68528f68e07d
Resource Condition:
Language: de
Profile: MII PR SE Clinical Diagnosis version: 2027.0.0-ballot
Condition Asserted Date: 2024-10-15
clinicalStatus: Resolved
verificationStatus: Confirmed
category: Encounter Diagnosis
code: Katarakt bilateral
abatement: 2024-11-12
recordedDate: 2024-10-15
evidence
evidence
note:
Katarakt bilateral, operativ versorgt
Request:
POST Condition
Entry 6 - fullUrl = urn:uuid:72fa4681-014d-4caa-86a3-97cea92766f4
Resource Observation:
Language: de
status: Final
category: Vital Signs
code: Body height
effective: 2024-12-15
value: 213 cm (Details: UCUM codecm = 'cm')
interpretation: High
bodySite: Entire body as a whole
Components
Code Value[x] Tall stature Pathologischer Hochwuchs >99. Perzentile
Request:
POST Observation
Entry 7 - fullUrl = urn:uuid:9dfa4ddc-723f-4c65-b86d-1a88304e77fe
Resource Observation:
Language: de
status: Final
category: Exam
code: Leg length discrepancy
effective: 2024-12-15
value: Left
interpretation: Abnormal
bodySite: Lower leg structure
Components
Code Value[x] Lower limb asymmetry Rechtes Bein verkürzt
Request:
POST Observation
Entry 8 - fullUrl = urn:uuid:b5f66545-2f6e-450c-a92e-8e9d2626e003
Resource Observation:
Language: de
status: Final
category: Exam
code: Thoraxschmerzen
effective: 2024-12-15
value: Present
interpretation: Abnormal
Request:
POST Observation
Entry 9 - fullUrl = urn:uuid:ce25223c-45fe-4a87-ba1b-e120cba24e94
Resource Observation:
Language: de
status: Final
category: Exam
code: Katarakt bilateral
effective: 2024-10-15
value: Bilateral
interpretation: Abnormal
bodySite: Eye structure
Request:
POST Observation
Entry 10 - fullUrl = urn:uuid:a482bf38-9c7a-4295-a0f2-a38c1d15aae7
Resource Observation:
Language: de
status: Final
category: Imaging
code: Aortenwurzeldilatation
effective: 2024-12-15
value: 48 mm (Details: UCUM codemm = 'mm')
interpretation: High
ReferenceRanges
High Text 40 mm Normwert <40mm
Request:
POST Observation
Entry 11 - fullUrl = urn:uuid:7b78bb46-817f-4786-84f8-0805b1580192
Resource Observation:
Language: de
status: Final
category: Imaging
code: Aortenklappeninsuffizienz
effective: 2024-12-15
value: Aortenklappeninsuffizienz Grad II
interpretation: Abnormal
Request:
POST Observation
Entry 12 - fullUrl = urn:uuid:a933aaca-920c-4d29-be34-1d38c60b8bc9
Resource Observation:
Language: de
status: Final
category: Imaging
code: Mitralklappeninsuffizienz
effective: 2024-12-15
value: Mitralklappeninsuffizienz Grad I
interpretation: Abnormal
Request:
POST Observation
Entry 13 - fullUrl = urn:uuid:b769b1ea-3ec2-4b35-86d2-9a0ca128e1e6
Resource Observation:
Language: de
status: Final
category: Laboratory
code: Genetic analysis master panel
effective: 2024-12-20
value: Positive
interpretation: Positive
note:
Pathogene FBN1-Mutation, krankheitsursächlich für Marfan-Syndrom
component
code: Gene studied [ID]
value: FBN1
component
code: DNA change (c.HGVS)
value: c.3217G>A
component
code: Amino acid change (pHGVS)
value: p.Gly1073Arg
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
Request:
POST Observation
Entry 14 - fullUrl = urn:uuid:b4d84fa0-2c48-4613-ba4f-05b75d83c3c9
Resource Observation:
Language: de
status: Final
category: Imaging
code: Aorta root Diameter by US 2D
effective: 2024-12-15
value: 48 mm (Details: UCUM codemm = 'mm')
interpretation: High
method: Echocardiography
Request:
POST Observation
Entry 15 - fullUrl = urn:uuid:796c77be-100b-4935-b738-ef8d6175d668
Resource Observation:
Language: de
status: Final
category: Imaging
code: Aortic valve Regurgitation degree by US.doppler
effective: 2024-12-15
value: Grad II
interpretation: Abnormal
method: Echocardiography
Request:
POST Observation
Entry 16 - fullUrl = urn:uuid:c9a2b002-1177-4c4e-82c0-a8d32983da28
Resource Observation:
Language: de
status: Final
category: Imaging
code: Mitral valve Regurgitation degree by US.doppler
effective: 2024-12-15
value: Grad I
interpretation: Abnormal
method: Echocardiography
Request:
POST Observation
Entry 17 - fullUrl = urn:uuid:7aa4841a-ee1c-462f-86c7-00a2705d42f4
Resource Procedure:
Language: de
status: Completed
category: Surgical procedure
code: Phakoemulsifikation mit IOL-Implantation
outcome: Erfolgreiche Linsenimplantation ohne Komplikationen
note:
Komplikationslose Phakoemulsifikation beider Augen mit Implantation monofokaler Intraokularlinsen
Request:
POST Procedure
Entry 18 - fullUrl = urn:uuid:853a938b-bc21-4757-98cc-c33554ea26af
Resource Procedure:
Language: de
status: Preparation
category: Surgical procedure
code: Aortenwurzelersatz (David-Operation)
note:
Geplante klappensparende Aortenwurzelersatz-Operation nach David bei progredienter Aortenwurzeldilatation
Request:
POST Procedure
Entry 19 - fullUrl = urn:uuid:8fb04be6-9930-4aec-8a5f-4ef9b904ae51
Resource MedicationStatement:
Language: de
status: active
status: recorded
effective: 2024-12-15
note:
Zur Progressionshemmung der Aortenwurzeldilatation bei Marfan-Syndrom
dosage
text: 50mg einmal täglich
timing: Once per 1 day
route: Oral route
DoseAndRates
Dose[x] 50 mg (Details: UCUM codemg = 'mg')
Request:
POST MedicationStatement
Entry 20 - fullUrl = urn:uuid:35d41288-207b-4be7-967a-d92e295d1c75
Resource ClinicalImpression:
Language: de
Profile: MII Profile SE Clinical Impression version: 2027.0.0-ballot
status: Completed
effective: 2024-12-15
date: 2024-12-15
problem:
summary: 19-jähriger Patient mit Z.n. Katarakt-OP im ZSE vorstellig. Kardiologische Mitbeurteilung zeigt: Aortenwurzeldilatation (48mm), AKI Grad II, MKI Grad I. Skelettale Merkmale (Hochwuchs 2,13m, Beinlängendifferenz) bestätigen Marfan-Syndrom. Klinische und genetische Diagnose gesichert.
finding
finding
finding
finding
finding
finding
finding
prognosisCodeableConcept: Guarded prognosis
note: ,
Katarakt in jungem Alter war Anlass für ZSE-Konsultation. Marfan-Syndrom klinisch und genetisch (FBN1-Mutation) bestätigt. OP-Indikation für Aortenwurzelersatz durch Kardiologie gestellt. Medikamentöse Therapie mit Losartan eingeleitet.
Multidisziplinäre Betreuung im ZSE etabliert. Regelmäßige kardiologische Kontrollen alle 6 Monate. Genetische Beratung für Familienplanung empfohlen.
Request:
POST ClinicalImpression
Entry 21 - fullUrl = urn:uuid:258f0a21-4c6e-473d-87e9-36a5bf01bb1a
Resource Encounter:
Language: de
status: completed
class: ambulatory
type: Ophthalmic examination and evaluation
Diagnoses
Condition Use No display for Encounter.diagnosis.condition (reference: ->Condition Katarakt, nicht näher bezeichnet) Admission diagnosis
Request:
POST Encounter
Entry 22 - fullUrl = urn:uuid:70504d04-a6f0-4aa8-bd20-9b475b94438c
Resource Encounter:
Language: de
status: completed
class: short stay
type: Admission to surgical department
Diagnoses
Condition Use No display for Encounter.diagnosis.condition (reference: ->Condition Katarakt, nicht näher bezeichnet) Chief complaint
Request:
POST Encounter
Entry 23 - fullUrl = urn:uuid:c90d7e24-a787-4d1b-b402-36b64362cc13
Resource Encounter:
Language: de
status: completed
class: ambulatory
type: Seen in cardiac clinic (finding)
Diagnoses
Condition Use No display for Encounter.diagnosis.condition (reference: ->Condition Marfan syndrome) Admission diagnosis
Request:
POST Encounter
Entry 24 - fullUrl = urn:uuid:1ec76c96-9e7d-403a-9ea5-1f2eaea6ef28
Resource Encounter:
Language: de
status: Planned
class: inpatient encounter
type: Admission to cardiology department
Diagnoses
Condition Use No display for Encounter.diagnosis.condition (reference: ->Condition Marfan syndrome) Chief complaint
Request:
POST Encounter