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: en
Bundle mii-exa-seltene-bundle-sma-complete of type transaction
Entry 1 - fullUrl = urn:uuid:6830d99e-9bbe-48ed-8927-ff28eadc42e0
Resource Patient:
Language: en
Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)
Request:
POST Patient
Entry 2 - fullUrl = urn:uuid:117180a6-0392-47c5-8841-aa5b57d0e47e
Resource Condition:
Language: en
Profile: MII PR SE Clinical Diagnosis version: 2027.0.0-ballot
Condition Asserted Date: 2024-07-18
clinicalStatus: Active
verificationStatus: Unconfirmed
category: Encounter Diagnosis
code: Verdacht auf Spinale Muskelatrophie
recordedDate: 2024-07-18
evidence
evidence
note:
Verdacht beim Neugeborenenscreening gestellt - SMN1 Exon 7 nicht nachweisbar
Request:
POST Condition
Entry 3 - fullUrl = urn:uuid:7041e5af-feab-4650-af1b-e2051ba0a95a
Resource Condition:
Language: en
Profile: MII PR SE Clinical Diagnosis version: 2027.0.0-ballot
Condition Asserted Date: 2024-07-22
clinicalStatus: Active
verificationStatus: Confirmed
category: Encounter Diagnosis
code: Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]
onset: 2024-07-01
recordedDate: 2024-07-22
evidence
evidence
note:
Klinische Diagnose basierend auf typischer Präsentation: Neonatale Hypotonie, fehlende Muskeleigenreflexe, erhöhtes Troponin
Request:
POST Condition
Entry 4 - fullUrl = urn:uuid:9596df71-0f1b-495f-bf1c-16708dc952bf
Resource Condition:
Language: en
Profile: MII PR SE Genetic Diagnosis version: 2027.0.0-ballot
Condition Asserted Date: 2024-07-26
clinicalStatus: Active
verificationStatus: Confirmed
category: Genetic disease
code: Spinal muscular atrophy, type I
onset: 2024-07-01
recordedDate: 2024-07-26
evidence
evidence
evidence
evidence
evidence
note:
0 Kopien des SMN1-Gens, 2 Kopien des SMN2-Gens - krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose.
Request:
POST Condition
Entry 5 - fullUrl = urn:uuid:00e23000-f21c-470d-8f71-1942f0f72efe
Resource FamilyMemberHistory:
Language: en
Profile: MII PR SE Familienanamnese version: 2027.0.0-ballot
MII EX SE Von SE betroffen: Unknown
status: Completed
date: 2024-07-22
relationship: Great grandmother
Conditions
Code Unbekannte Muskelerkrankung
Request:
POST FamilyMemberHistory
Entry 6 - fullUrl = urn:uuid:07ff35a6-561b-4a3b-bfc0-be528e6ab5a4
Resource Observation:
Language: en
status: Final
category: Laboratory
code: Spinal muscular atrophy newborn screening panel
effective: 2024-07-18
value: Detected
interpretation: Abnormal
note:
Positives SMA-Screening. Konfirmatorische Diagnostik empfohlen.
component
code: Spinal muscular atrophy newborn screen interpretation
value: Hinweis auf SMA - SMN1 Exon 7 Deletion nachgewiesen
component
code: SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection
value: 0 Ct (Details: UCUM code1 = '1')
interpretation: Abnormal
Request:
POST Observation
Entry 7 - fullUrl = urn:uuid:89231fbc-2218-499e-b3f5-c11368975c6e
Resource Observation:
Language: en
status: Final
category: Laboratory
code: Genetic analysis master panel
effective: 2024-07-26
value: Positive
interpretation: Positive
note:
Homozygote Deletion des SMN1-Gens, krankheitsursächlich für SMA
component
code: Gene studied [ID]
value: SMN1
component
code: Human reference sequence assembly version
value: GRCh38
component
code: Allelic state
value: Homozygous
component
code: Copy Number
value: 0 copies
Request:
POST Observation
Entry 8 - fullUrl = urn:uuid:3325c12d-0646-433e-8e46-042168eccf92
Resource Observation:
Language: en
status: Final
category: Laboratory
code: Genetic analysis master panel
effective: 2024-07-26
note:
2 Kopien des SMN2-Gens, Modifikator des Phänotyps
component
code: Gene studied [ID]
value: SMN2
component
code: Copy Number
value: 2 copies
Request:
POST Observation
Entry 9 - fullUrl = urn:uuid:127dc51a-19ad-44ff-bf75-b1804d232109
Resource Procedure:
Language: en
status: Completed
category: Therapeutic procedure
code: Gentherapie mit Onasemnogene abeparvovec (Zolgensma)
note:
Gentherapeutikum ohne Komplikationen verabreicht, vorherige Gabe von Prednisolon
Request:
POST Procedure
Entry 10 - fullUrl = urn:uuid:ccdcbdd3-8153-4ef2-8d76-1ee0f681328b
Resource Observation:
Language: en
status: Final
category: Laboratory
code: Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma
effective: 2024-07-29
interpretation: Normal
note:
Normwertig post-therapeutisch
Request:
POST Observation
Entry 11 - fullUrl = urn:uuid:bb92ee35-b577-42a8-bf9a-b51cbe5debae
Resource Observation:
Language: en
status: Final
category: Laboratory
code: Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma
effective: 2024-07-29
interpretation: Normal
note:
Normwertig post-therapeutisch
Request:
POST Observation
Entry 12 - fullUrl = urn:uuid:38b52a28-bfa6-451f-8dad-9d0b8a8466bc
Resource Observation:
Language: en
status: Final
category: Laboratory
code: Platelets [#/volume] in Blood by Automated count
effective: 2024-07-29
interpretation: Normal
note:
Normwertig post-therapeutisch
Request:
POST Observation
Entry 13 - fullUrl = urn:uuid:ab5b69cf-4eae-4aa3-8ce4-5b5eb1a4a46a
Resource Observation:
Language: en
status: Final
category: Laboratory
code: Troponin T.cardiac [Mass/volume] in Serum or Plasma
effective: 2024-07-22
value: 92 ng/L (Details: UCUM codeng/L = 'ng/L')
interpretation: High
Request:
POST Observation
Entry 14 - fullUrl = urn:uuid:23b8775e-4704-4037-930e-68d1628cf0b8
Resource Observation:
Language: en
status: Final
category: Laboratory
code: Troponin T.cardiac [Mass/volume] in Serum or Plasma
effective: 2024-07-28
value: 58 ng/L (Details: UCUM codeng/L = 'ng/L')
interpretation: High
Request:
POST Observation
Entry 15 - fullUrl = urn:uuid:7d919637-556d-441d-8145-706eb3543fa3
Resource Observation:
Language: en
status: Final
category: Laboratory
code: Troponin T.cardiac [Mass/volume] in Serum or Plasma
effective: 2024-08-01
value: 57 ng/L (Details: UCUM codeng/L = 'ng/L')
interpretation: High
Request:
POST Observation
Entry 16 - fullUrl = urn:uuid:0ccc9861-03d4-403b-a650-a9f24d64a615
Resource Observation:
Language: en
status: Final
category: Laboratory
code: Troponin T.cardiac [Mass/volume] in Serum or Plasma
effective: 2024-08-12
value: 106 ng/L (Details: UCUM codeng/L = 'ng/L')
interpretation: High
note:
Troponin T weiter erhöht, bereits prä-therapeutisch erhöht
Request:
POST Observation
Entry 17 - fullUrl = urn:uuid:81c1e902-ea19-4d32-adbf-3ee234509cf6
Resource ClinicalImpression:
Language: en
Profile: MII Profile SE Clinical Impression version: 2027.0.0-ballot
status: Completed
effective: 2024-07-22
date: 2024-07-22
problem: Condition Werdnig-Hoffmann disease
summary: Neugeborenes mit V.a. SMA aus Neugeborenenscreening. Familienanamnese zeigt unklare Muskelerkrankung der Urgroßmutter. Troponin T bereits erhöht (92 ng/l).
finding
finding
finding
prognosisCodeableConcept: Guarded prognosis
note: ,
Klinische Untersuchung gemäß SMA-Diagnoseprotokoll. Blutentnahme für Genetik veranlasst.
Klinisches Bild vereinbar mit SMA Typ 1. Molekulargenetische Bestätigung ausstehend. Eltern über Therapieoptionen informiert.
Request:
POST ClinicalImpression
Entry 18 - fullUrl = urn:uuid:b764f4a2-50c0-4624-ad49-8eb9405aaf9d
Resource ClinicalImpression:
Language: en
Profile: MII Profile SE Clinical Impression version: 2027.0.0-ballot
status: Completed
effective: 2024-08-12
date: 2024-08-12
problem:
- Condition Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]
- Condition Spinal muscular atrophy, type I
summary: Erste Nachsorge 14 Tage nach Gentherapie. Klinisch stabil. Troponin T weiter erhöht (106 ng/l), war jedoch bereits prätherapeutisch erhöht.
finding
basis: Troponin-Verlauf: 22.07: 92 ng/l, 28.07: 58 ng/l, 01.08: 57 ng/l, 12.08: 106 ng/l
finding
basis: ALT normwertig
finding
basis: AST normwertig
finding
basis: Thrombozytenzahl normwertig
prognosisCodeableConcept: Guarded prognosis
note: ,
Standardisierte Nachsorgeuntersuchung nach Gentherapie gemäß Zentrumsprotokoll
Troponin-Erhöhung präexistent, nicht therapieassoziiert. Gentherapie gut vertragen. Weiterführung der Prednisolon-Therapie. Nächste Kontrolle in 4 Wochen.
Request:
POST ClinicalImpression
Entry 19 - fullUrl = urn:uuid:8320638f-eca2-4586-b173-bd0c49d9ae9d
Resource Encounter:
Language: en
status: completed
class: ambulatory
type: Neonatal screening (procedure)
Request:
POST Encounter
Entry 20 - fullUrl = urn:uuid:98afd481-d1d6-4c2e-9d1c-51c651964e5f
Resource Encounter:
Language: en
status: completed
class: ambulatory
type: Follow-up encounter
Diagnoses
Condition Use No display for Encounter.diagnosis.condition (reference: ->Condition Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]) Admission diagnosis
Request:
POST Encounter
Entry 21 - fullUrl = urn:uuid:bdb5bd40-064b-4b79-aab6-8d9cc9db4873
Resource Encounter:
Language: en
status: completed
class: inpatient encounter
type: Hospital admission
Diagnoses
Condition Use No display for Encounter.diagnosis.condition (reference: ->Condition Spinal muscular atrophy, type I) Chief complaint
Request:
POST Encounter
Entry 22 - fullUrl = urn:uuid:f8e29cb1-a8a9-4d56-ac0e-65fca096f860
Resource Encounter:
Language: en
status: completed
class: ambulatory
type: Follow-up encounter
Diagnoses
Condition No display for Encounter.diagnosis.condition (reference: ->Condition Spinal muscular atrophy, type I)
Request:
POST Encounter