{ "resourceType" : "Bundle", "id" : "mii-exa-seltene-bundle-sma-complete", "language" : "en", "type" : "transaction", "timestamp" : "2024-08-12T14:00:00Z", "entry" : [{ "fullUrl" : "urn:uuid:6830d99e-9bbe-48ed-8927-ff28eadc42e0", "resource" : { "resourceType" : "Patient", "id" : "mii-exa-seltene-patient-sma-001", "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: Patient mii-exa-seltene-patient-sma-001

Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

" }, "identifier" : [{ "system" : "https://www.medizininformatik-initiative.de/fhir/sid/patient-id", "value" : "SMA-2024-001" }], "gender" : "female", "birthDate" : "2024-07-01" }, "request" : { "method" : "POST", "url" : "Patient" } }, { "fullUrl" : "urn:uuid:117180a6-0392-47c5-8841-aa5b57d0e47e", "resource" : { "resourceType" : "Condition", "id" : "mii-exa-seltene-condition-sma-suspected", "meta" : { "profile" : ["https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis|2027.0.0-ballot"] }, "language" : "en", "text" : { "status" : "extensions", "div" : "

English

Generated Narrative: Condition mii-exa-seltene-condition-sma-suspected

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

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

encounter: Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Neonatal screening (procedure); period = 2024-07-18 --> 2024-07-18; reasonCode =

recordedDate: 2024-07-18

Evidences

-CodeDetail
*Positives NeugeborenenscreeningObservation Spinal muscular atrophy newborn screening panel

note:

Verdacht beim Neugeborenenscreening gestellt - SMN1 Exon 7 nicht nachweisbar

\n
" }, "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/condition-assertedDate", "valueDateTime" : "2024-07-18" }], "clinicalStatus" : { "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/condition-clinical", "code" : "active" }] }, "verificationStatus" : { "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/condition-ver-status", "code" : "unconfirmed" }] }, "category" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/condition-category", "code" : "encounter-diagnosis" }] }], "code" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "64383006", "display" : "Werdnig-Hoffmann disease" }, { "system" : "http://human-phenotype-ontology.org", "code" : "HP:0007373", "display" : "Motor neuron atrophy" }], "text" : "Verdacht auf Spinale Muskelatrophie" }, "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "encounter" : { "reference" : "Encounter/mii-exa-seltene-encounter-screening-001" }, "recordedDate" : "2024-07-18", "evidence" : [{ "code" : [{ "text" : "Positives Neugeborenenscreening" }], "detail" : [{ "reference" : "Observation/mii-exa-seltene-observation-sma-screening" }] }], "note" : [{ "text" : "Verdacht beim Neugeborenenscreening gestellt - SMN1 Exon 7 nicht nachweisbar" }] }, "request" : { "method" : "POST", "url" : "Condition" } }, { "fullUrl" : "urn:uuid:7041e5af-feab-4650-af1b-e2051ba0a95a", "resource" : { "resourceType" : "Condition", "id" : "mii-exa-seltene-condition-sma-clinical", "meta" : { "profile" : ["https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis|2027.0.0-ballot"] }, "language" : "en", "text" : { "status" : "extensions", "div" : "

English

Generated Narrative: Condition mii-exa-seltene-condition-sma-clinical

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]

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

encounter: Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Follow-up encounter; period = 2024-07-22 --> 2024-07-22

onset: 2024-07-01

recordedDate: 2024-07-22

Evidences

-CodeDetail
*Klinische PräsentationObservation Troponin T.cardiac [Mass/volume] in Serum or Plasma

note:

Klinische Diagnose basierend auf typischer Präsentation: Neonatale Hypotonie, fehlende Muskeleigenreflexe, erhöhtes Troponin

\n
" }, "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/condition-assertedDate", "valueDateTime" : "2024-07-22" }], "clinicalStatus" : { "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/condition-clinical", "code" : "active" }] }, "verificationStatus" : { "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/condition-ver-status", "code" : "confirmed" }] }, "category" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/condition-category", "code" : "encounter-diagnosis" }] }], "code" : { "coding" : [{ "system" : "http://fhir.de/CodeSystem/bfarm/icd-10-gm", "version" : "2024", "code" : "G12.0", "display" : "Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]" }, { "system" : "http://snomed.info/sct", "code" : "64383006", "display" : "Werdnig-Hoffmann disease" }, { "system" : "http://www.orpha.net", "code" : "83330", "display" : "Proximal spinal muscular atrophy type 1" }, { "system" : "http://human-phenotype-ontology.org", "code" : "HP:0007373", "display" : "Motor neuron atrophy" }] }, "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "encounter" : { "reference" : "Encounter/mii-exa-seltene-encounter-ambulant-001" }, "onsetDateTime" : "2024-07-01", "recordedDate" : "2024-07-22", "evidence" : [{ "code" : [{ "text" : "Klinische Präsentation" }], "detail" : [{ "reference" : "Observation/mii-exa-seltene-observation-troponin-001" }] }], "note" : [{ "text" : "Klinische Diagnose basierend auf typischer Präsentation: Neonatale Hypotonie, fehlende Muskeleigenreflexe, erhöhtes Troponin" }] }, "request" : { "method" : "POST", "url" : "Condition" } }, { "fullUrl" : "urn:uuid:9596df71-0f1b-495f-bf1c-16708dc952bf", "resource" : { "resourceType" : "Condition", "id" : "mii-exa-seltene-condition-sma-genetic", "meta" : { "profile" : ["https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-diagnosis|2027.0.0-ballot"] }, "language" : "en", "text" : { "status" : "extensions", "div" : "

English

Generated Narrative: Condition mii-exa-seltene-condition-sma-genetic

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

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

onset: 2024-07-01

recordedDate: 2024-07-26

evidence

code: Genetic finding

detail:

evidence

code: Genetic test

detail: Diagnostic Report for 'Genetic analysis report' for '->Max Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)'

note:

0 Kopien des SMN1-Gens, 2 Kopien des SMN2-Gens - krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose.

\n
" }, "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/condition-assertedDate", "valueDateTime" : "2024-07-26" }], "clinicalStatus" : { "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/condition-clinical", "code" : "active" }] }, "verificationStatus" : { "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/condition-ver-status", "code" : "confirmed" }] }, "category" : [{ "coding" : [{ "system" : "http://snomed.info/sct", "code" : "782964007", "display" : "Genetic disease" }] }], "code" : { "coding" : [{ "system" : "http://omim.org", "version" : "2024", "code" : "253300", "display" : "Spinal muscular atrophy, type I" }, { "system" : "http://snomed.info/sct", "code" : "64383006", "display" : "Werdnig-Hoffmann disease" }, { "system" : "http://www.orpha.net", "code" : "83330", "display" : "Proximal spinal muscular atrophy type 1" }] }, "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "onsetDateTime" : "2024-07-01", "recordedDate" : "2024-07-26", "evidence" : [{ "code" : [{ "coding" : [{ "system" : "http://snomed.info/sct", "code" : "106221001", "display" : "Genetic finding" }] }], "detail" : [{ "reference" : "Observation/mii-exa-seltene-variant-smn1-001" }, { "reference" : "Observation/mii-exa-seltene-variant-smn2-001" }] }, { "code" : [{ "coding" : [{ "system" : "http://snomed.info/sct", "code" : "405824009", "display" : "Genetic test" }] }], "detail" : [{ "reference" : "DiagnosticReport/mii-exa-seltene-molgen-diagnostic-implication-sma" }] }], "note" : [{ "text" : "0 Kopien des SMN1-Gens, 2 Kopien des SMN2-Gens - krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose." }] }, "request" : { "method" : "POST", "url" : "Condition" } }, { "fullUrl" : "urn:uuid:00e23000-f21c-470d-8f71-1942f0f72efe", "resource" : { "resourceType" : "FamilyMemberHistory", "id" : "mii-exa-seltene-family-history-001", "meta" : { "profile" : ["https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-familienanamnese|2027.0.0-ballot"] }, "language" : "en", "text" : { "status" : "extensions", "div" : "

English

Generated Narrative: FamilyMemberHistory mii-exa-seltene-family-history-001

Profile: MII PR SE Familienanamnese version: 2027.0.0-ballot

MII EX SE Von SE betroffen: Unknown

status: Completed

patient: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

date: 2024-07-22

relationship: Great grandmother

Conditions

-Code
*Unbekannte Muskelerkrankung
" }, "extension" : [{ "url" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-von-se-betroffen", "valueCodeableConcept" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "261665006", "display" : "Unknown" }] } }], "status" : "completed", "patient" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "date" : "2024-07-22", "relationship" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "78652007", "display" : "Great grandmother" }] }, "condition" : [{ "code" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "129565002", "display" : "Disorder of muscle" }], "text" : "Unbekannte Muskelerkrankung" } }] }, "request" : { "method" : "POST", "url" : "FamilyMemberHistory" } }, { "fullUrl" : "urn:uuid:07ff35a6-561b-4a3b-bfc0-be528e6ab5a4", "resource" : { "resourceType" : "Observation", "id" : "mii-exa-seltene-observation-sma-screening", "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: Observation mii-exa-seltene-observation-sma-screening

status: Final

category: Laboratory

code: Spinal muscular atrophy newborn screening panel

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

effective: 2024-07-18

value: Detected

interpretation: Abnormal

note:

Positives SMA-Screening. Konfirmatorische Diagnostik empfohlen.

\n

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

" }, "status" : "final", "category" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/observation-category", "code" : "laboratory" }] }], "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "92005-8", "display" : "Spinal muscular atrophy newborn screening panel" }] }, "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "effectiveDateTime" : "2024-07-18", "valueCodeableConcept" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "260373001", "display" : "Detected" }] }, "interpretation" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation", "code" : "A", "display" : "Abnormal" }] }], "note" : [{ "text" : "Positives SMA-Screening. Konfirmatorische Diagnostik empfohlen." }], "component" : [{ "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "92004-1", "display" : "Spinal muscular atrophy newborn screen interpretation" }] }, "valueCodeableConcept" : { "text" : "Hinweis auf SMA - SMN1 Exon 7 Deletion nachgewiesen" } }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "92002-5", "display" : "SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection" }] }, "valueQuantity" : { "value" : 0, "unit" : "Ct", "system" : "http://unitsofmeasure.org", "code" : "1" }, "interpretation" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation", "code" : "A", "display" : "Abnormal" }] }] }] }, "request" : { "method" : "POST", "url" : "Observation" } }, { "fullUrl" : "urn:uuid:89231fbc-2218-499e-b3f5-c11368975c6e", "resource" : { "resourceType" : "Observation", "id" : "mii-exa-seltene-variant-smn1-001", "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: Observation mii-exa-seltene-variant-smn1-001

status: Final

category: Laboratory

code: Genetic analysis master panel

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

effective: 2024-07-26

value: Positive

interpretation: Positive

note:

Homozygote Deletion des SMN1-Gens, krankheitsursächlich für SMA

\n

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

" }, "status" : "final", "category" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/observation-category", "code" : "laboratory" }] }], "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "55233-1", "display" : "Genetic analysis master panel" }] }, "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "effectiveDateTime" : "2024-07-26", "valueCodeableConcept" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "10828004", "display" : "Positive" }] }, "interpretation" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation", "code" : "POS", "display" : "Positive" }] }], "note" : [{ "text" : "Homozygote Deletion des SMN1-Gens, krankheitsursächlich für SMA" }], "component" : [{ "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "48018-6", "display" : "Gene studied [ID]" }] }, "valueCodeableConcept" : { "coding" : [{ "system" : "http://www.genenames.org/geneId", "code" : "HGNC:11117", "display" : "SMN1" }] } }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "62374-4", "display" : "Human reference sequence assembly version" }] }, "valueCodeableConcept" : { "text" : "GRCh38" } }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "53034-5", "display" : "Allelic state" }] }, "valueCodeableConcept" : { "coding" : [{ "system" : "http://loinc.org", "code" : "LA6705-3", "display" : "Homozygous" }] } }, { "code" : { "text" : "Copy Number" }, "valueQuantity" : { "value" : 0, "unit" : "copies" } }] }, "request" : { "method" : "POST", "url" : "Observation" } }, { "fullUrl" : "urn:uuid:3325c12d-0646-433e-8e46-042168eccf92", "resource" : { "resourceType" : "Observation", "id" : "mii-exa-seltene-variant-smn2-001", "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: Observation mii-exa-seltene-variant-smn2-001

status: Final

category: Laboratory

code: Genetic analysis master panel

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

effective: 2024-07-26

note:

2 Kopien des SMN2-Gens, Modifikator des Phänotyps

\n

component

code: Gene studied [ID]

value: SMN2

component

code: Copy Number

value: 2 copies

" }, "status" : "final", "category" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/observation-category", "code" : "laboratory" }] }], "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "55233-1", "display" : "Genetic analysis master panel" }] }, "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "effectiveDateTime" : "2024-07-26", "note" : [{ "text" : "2 Kopien des SMN2-Gens, Modifikator des Phänotyps" }], "component" : [{ "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "48018-6", "display" : "Gene studied [ID]" }] }, "valueCodeableConcept" : { "coding" : [{ "system" : "http://www.genenames.org/geneId", "code" : "HGNC:11118", "display" : "SMN2" }] } }, { "code" : { "text" : "Copy Number" }, "valueQuantity" : { "value" : 2, "unit" : "copies" } }] }, "request" : { "method" : "POST", "url" : "Observation" } }, { "fullUrl" : "urn:uuid:127dc51a-19ad-44ff-bf75-b1804d232109", "resource" : { "resourceType" : "Procedure", "id" : "mii-exa-seltene-procedure-gentherapy-001", "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: Procedure mii-exa-seltene-procedure-gentherapy-001

status: Completed

category: Therapeutic procedure

code: Gentherapie mit Onasemnogene abeparvovec (Zolgensma)

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

performed: 2024-07-29

reasonReference: Condition Spinal muscular atrophy, type I

note:

Gentherapeutikum ohne Komplikationen verabreicht, vorherige Gabe von Prednisolon

\n
" }, "status" : "completed", "category" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "277132007", "display" : "Therapeutic procedure" }] }, "code" : { "coding" : [{ "system" : "http://fdasis.nlm.nih.gov", "code" : "MLU3LU3EVV", "display" : "ONASEMNOGENE ABEPARVOVEC" }, { "system" : "http://snomed.info/sct", "code" : "788110002", "display" : "Onasemnogene abeparvovec" }], "text" : "Gentherapie mit Onasemnogene abeparvovec (Zolgensma)" }, "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "performedDateTime" : "2024-07-29", "reasonReference" : [{ "reference" : "Condition/mii-exa-seltene-condition-sma-genetic" }], "note" : [{ "text" : "Gentherapeutikum ohne Komplikationen verabreicht, vorherige Gabe von Prednisolon" }] }, "request" : { "method" : "POST", "url" : "Procedure" } }, { "fullUrl" : "urn:uuid:ccdcbdd3-8153-4ef2-8d76-1ee0f681328b", "resource" : { "resourceType" : "Observation", "id" : "mii-exa-seltene-observation-alt-001", "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: Observation mii-exa-seltene-observation-alt-001

status: Final

category: Laboratory

code: Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

effective: 2024-07-29

interpretation: Normal

note:

Normwertig post-therapeutisch

\n
" }, "status" : "final", "category" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/observation-category", "code" : "laboratory" }] }], "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "1742-6", "display" : "Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma" }] }, "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "effectiveDateTime" : "2024-07-29", "interpretation" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation", "code" : "N", "display" : "Normal" }] }], "note" : [{ "text" : "Normwertig post-therapeutisch" }] }, "request" : { "method" : "POST", "url" : "Observation" } }, { "fullUrl" : "urn:uuid:bb92ee35-b577-42a8-bf9a-b51cbe5debae", "resource" : { "resourceType" : "Observation", "id" : "mii-exa-seltene-observation-ast-001", "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: Observation mii-exa-seltene-observation-ast-001

status: Final

category: Laboratory

code: Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

effective: 2024-07-29

interpretation: Normal

note:

Normwertig post-therapeutisch

\n
" }, "status" : "final", "category" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/observation-category", "code" : "laboratory" }] }], "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "1920-8", "display" : "Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma" }] }, "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "effectiveDateTime" : "2024-07-29", "interpretation" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation", "code" : "N", "display" : "Normal" }] }], "note" : [{ "text" : "Normwertig post-therapeutisch" }] }, "request" : { "method" : "POST", "url" : "Observation" } }, { "fullUrl" : "urn:uuid:38b52a28-bfa6-451f-8dad-9d0b8a8466bc", "resource" : { "resourceType" : "Observation", "id" : "mii-exa-seltene-observation-plt-001", "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: Observation mii-exa-seltene-observation-plt-001

status: Final

category: Laboratory

code: Platelets [#/volume] in Blood by Automated count

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

effective: 2024-07-29

interpretation: Normal

note:

Normwertig post-therapeutisch

\n
" }, "status" : "final", "category" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/observation-category", "code" : "laboratory" }] }], "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "777-3", "display" : "Platelets [#/volume] in Blood by Automated count" }] }, "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "effectiveDateTime" : "2024-07-29", "interpretation" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation", "code" : "N", "display" : "Normal" }] }], "note" : [{ "text" : "Normwertig post-therapeutisch" }] }, "request" : { "method" : "POST", "url" : "Observation" } }, { "fullUrl" : "urn:uuid:ab5b69cf-4eae-4aa3-8ce4-5b5eb1a4a46a", "resource" : { "resourceType" : "Observation", "id" : "mii-exa-seltene-observation-troponin-001", "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: Observation mii-exa-seltene-observation-troponin-001

status: Final

category: Laboratory

code: Troponin T.cardiac [Mass/volume] in Serum or Plasma

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

effective: 2024-07-22

value: 92 ng/L (Details: UCUM codeng/L = 'ng/L')

interpretation: High

" }, "status" : "final", "category" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/observation-category", "code" : "laboratory" }] }], "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "6598-7", "display" : "Troponin T.cardiac [Mass/volume] in Serum or Plasma" }] }, "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "effectiveDateTime" : "2024-07-22", "valueQuantity" : { "value" : 92, "unit" : "ng/L", "system" : "http://unitsofmeasure.org", "code" : "ng/L" }, "interpretation" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation", "code" : "H", "display" : "High" }] }] }, "request" : { "method" : "POST", "url" : "Observation" } }, { "fullUrl" : "urn:uuid:23b8775e-4704-4037-930e-68d1628cf0b8", "resource" : { "resourceType" : "Observation", "id" : "mii-exa-seltene-observation-troponin-002", "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: Observation mii-exa-seltene-observation-troponin-002

status: Final

category: Laboratory

code: Troponin T.cardiac [Mass/volume] in Serum or Plasma

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

effective: 2024-07-28

value: 58 ng/L (Details: UCUM codeng/L = 'ng/L')

interpretation: High

" }, "status" : "final", "category" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/observation-category", "code" : "laboratory" }] }], "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "6598-7", "display" : "Troponin T.cardiac [Mass/volume] in Serum or Plasma" }] }, "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "effectiveDateTime" : "2024-07-28", "valueQuantity" : { "value" : 58, "unit" : "ng/L", "system" : "http://unitsofmeasure.org", "code" : "ng/L" }, "interpretation" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation", "code" : "H", "display" : "High" }] }] }, "request" : { "method" : "POST", "url" : "Observation" } }, { "fullUrl" : "urn:uuid:7d919637-556d-441d-8145-706eb3543fa3", "resource" : { "resourceType" : "Observation", "id" : "mii-exa-seltene-observation-troponin-003", "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: Observation mii-exa-seltene-observation-troponin-003

status: Final

category: Laboratory

code: Troponin T.cardiac [Mass/volume] in Serum or Plasma

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

effective: 2024-08-01

value: 57 ng/L (Details: UCUM codeng/L = 'ng/L')

interpretation: High

" }, "status" : "final", "category" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/observation-category", "code" : "laboratory" }] }], "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "6598-7", "display" : "Troponin T.cardiac [Mass/volume] in Serum or Plasma" }] }, "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "effectiveDateTime" : "2024-08-01", "valueQuantity" : { "value" : 57, "unit" : "ng/L", "system" : "http://unitsofmeasure.org", "code" : "ng/L" }, "interpretation" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation", "code" : "H", "display" : "High" }] }] }, "request" : { "method" : "POST", "url" : "Observation" } }, { "fullUrl" : "urn:uuid:0ccc9861-03d4-403b-a650-a9f24d64a615", "resource" : { "resourceType" : "Observation", "id" : "mii-exa-seltene-observation-troponin-004", "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: Observation mii-exa-seltene-observation-troponin-004

status: Final

category: Laboratory

code: Troponin T.cardiac [Mass/volume] in Serum or Plasma

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

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

\n
" }, "status" : "final", "category" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/observation-category", "code" : "laboratory" }] }], "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "6598-7", "display" : "Troponin T.cardiac [Mass/volume] in Serum or Plasma" }] }, "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "effectiveDateTime" : "2024-08-12", "valueQuantity" : { "value" : 106, "unit" : "ng/L", "system" : "http://unitsofmeasure.org", "code" : "ng/L" }, "interpretation" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation", "code" : "H", "display" : "High" }] }], "note" : [{ "text" : "Troponin T weiter erhöht, bereits prä-therapeutisch erhöht" }] }, "request" : { "method" : "POST", "url" : "Observation" } }, { "fullUrl" : "urn:uuid:81c1e902-ea19-4d32-adbf-3ee234509cf6", "resource" : { "resourceType" : "ClinicalImpression", "id" : "mii-exa-seltene-clinical-impression-erstvorstellung", "meta" : { "profile" : ["https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-impression|2027.0.0-ballot"] }, "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: ClinicalImpression mii-exa-seltene-clinical-impression-erstvorstellung

Profile: MII Profile SE Clinical Impression version: 2027.0.0-ballot

status: Completed

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

encounter: Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Follow-up encounter; period = 2024-07-22 --> 2024-07-22

effective: 2024-07-22

date: 2024-07-22

problem: Condition Werdnig-Hoffmann disease

investigation

code: Familienanamnese

item: FamilyMemberHistory: extension = Unknown; status = completed; date = 2024-07-22; relationship = Great grandmother

investigation

code: Labordiagnostik

item: Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma

summary: Neugeborenes mit V.a. SMA aus Neugeborenenscreening. Familienanamnese zeigt unklare Muskelerkrankung der Urgroßmutter. Troponin T bereits erhöht (92 ng/l).

finding

itemReference: Condition Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]

finding

itemReference: Condition Spinal muscular atrophy, type I

finding

itemCodeableConcept: Troponin above reference range

itemReference: Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma

prognosisCodeableConcept: Guarded prognosis

note: ,

Klinische Untersuchung gemäß SMA-Diagnoseprotokoll. Blutentnahme für Genetik veranlasst.

\n

Klinisches Bild vereinbar mit SMA Typ 1. Molekulargenetische Bestätigung ausstehend. Eltern über Therapieoptionen informiert.

\n
" }, "status" : "completed", "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "encounter" : { "reference" : "Encounter/mii-exa-seltene-encounter-ambulant-001" }, "effectiveDateTime" : "2024-07-22", "date" : "2024-07-22", "problem" : [{ "reference" : "Condition/mii-exa-seltene-condition-sma-suspected" }], "investigation" : [{ "code" : { "text" : "Familienanamnese" }, "item" : [{ "reference" : "FamilyMemberHistory/mii-exa-seltene-family-history-001" }] }, { "code" : { "text" : "Labordiagnostik" }, "item" : [{ "reference" : "Observation/mii-exa-seltene-observation-troponin-001" }] }], "summary" : "Neugeborenes mit V.a. SMA aus Neugeborenenscreening. Familienanamnese zeigt unklare Muskelerkrankung der Urgroßmutter. Troponin T bereits erhöht (92 ng/l).", "finding" : [{ "itemReference" : { "reference" : "Condition/mii-exa-seltene-condition-sma-clinical" } }, { "itemReference" : { "reference" : "Condition/mii-exa-seltene-condition-sma-genetic" } }, { "itemCodeableConcept" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "1363512008", "display" : "Troponin above reference range" }] }, "itemReference" : { "reference" : "Observation/mii-exa-seltene-observation-troponin-001" } }], "prognosisCodeableConcept" : [{ "coding" : [{ "system" : "http://snomed.info/sct", "code" : "67334001", "display" : "Guarded prognosis" }] }], "note" : [{ "text" : "Klinische Untersuchung gemäß SMA-Diagnoseprotokoll. Blutentnahme für Genetik veranlasst." }, { "text" : "Klinisches Bild vereinbar mit SMA Typ 1. Molekulargenetische Bestätigung ausstehend. Eltern über Therapieoptionen informiert." }] }, "request" : { "method" : "POST", "url" : "ClinicalImpression" } }, { "fullUrl" : "urn:uuid:b764f4a2-50c0-4624-ad49-8eb9405aaf9d", "resource" : { "resourceType" : "ClinicalImpression", "id" : "mii-exa-seltene-clinical-impression-nachsorge", "meta" : { "profile" : ["https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-impression|2027.0.0-ballot"] }, "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: ClinicalImpression mii-exa-seltene-clinical-impression-nachsorge

Profile: MII Profile SE Clinical Impression version: 2027.0.0-ballot

status: Completed

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

encounter: Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Follow-up encounter; period = 2024-08-12 --> 2024-08-12

effective: 2024-08-12

date: 2024-08-12

previous: ClinicalImpression: status = completed; effective[x] = 2024-07-22; date = 2024-07-22; summary = Neugeborenes mit V.a. SMA aus Neugeborenenscreening. Familienanamnese zeigt unklare Muskelerkrankung der Urgroßmutter. Troponin T bereits erhöht (92 ng/l).; 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.

problem:

summary: Erste Nachsorge 14 Tage nach Gentherapie. Klinisch stabil. Troponin T weiter erhöht (106 ng/l), war jedoch bereits prätherapeutisch erhöht.

finding

itemCodeableConcept: Troponin above reference range

itemReference: Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma

basis: Troponin-Verlauf: 22.07: 92 ng/l, 28.07: 58 ng/l, 01.08: 57 ng/l, 12.08: 106 ng/l

finding

itemCodeableConcept: Alanine aminotransferase level within reference range

basis: ALT normwertig

finding

itemCodeableConcept: Aspartate aminotransferase/serum glutamic oxaloacetic transaminase level within reference range

basis: AST normwertig

finding

itemCodeableConcept: Platelet count normal

basis: Thrombozytenzahl normwertig

prognosisCodeableConcept: Guarded prognosis

note: ,

Standardisierte Nachsorgeuntersuchung nach Gentherapie gemäß Zentrumsprotokoll

\n

Troponin-Erhöhung präexistent, nicht therapieassoziiert. Gentherapie gut vertragen. Weiterführung der Prednisolon-Therapie. Nächste Kontrolle in 4 Wochen.

\n
" }, "status" : "completed", "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "encounter" : { "reference" : "Encounter/mii-exa-seltene-encounter-nachsorge-001" }, "effectiveDateTime" : "2024-08-12", "date" : "2024-08-12", "previous" : { "reference" : "ClinicalImpression/mii-exa-seltene-clinical-impression-erstvorstellung" }, "problem" : [{ "reference" : "Condition/mii-exa-seltene-condition-sma-clinical" }, { "reference" : "Condition/mii-exa-seltene-condition-sma-genetic" }], "summary" : "Erste Nachsorge 14 Tage nach Gentherapie. Klinisch stabil. Troponin T weiter erhöht (106 ng/l), war jedoch bereits prätherapeutisch erhöht.", "finding" : [{ "itemCodeableConcept" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "1363512008", "display" : "Troponin above reference range" }] }, "itemReference" : { "reference" : "Observation/mii-exa-seltene-observation-troponin-004" }, "basis" : "Troponin-Verlauf: 22.07: 92 ng/l, 28.07: 58 ng/l, 01.08: 57 ng/l, 12.08: 106 ng/l" }, { "itemCodeableConcept" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "166645004", "display" : "Alanine aminotransferase level within reference range" }] }, "basis" : "ALT normwertig" }, { "itemCodeableConcept" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "166667003", "display" : "Aspartate aminotransferase/serum glutamic oxaloacetic transaminase level within reference range" }] }, "basis" : "AST normwertig" }, { "itemCodeableConcept" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "165555003", "display" : "Platelet count normal" }] }, "basis" : "Thrombozytenzahl normwertig" }], "prognosisCodeableConcept" : [{ "coding" : [{ "system" : "http://snomed.info/sct", "code" : "67334001", "display" : "Guarded prognosis" }] }], "note" : [{ "text" : "Standardisierte Nachsorgeuntersuchung nach Gentherapie gemäß Zentrumsprotokoll" }, { "text" : "Troponin-Erhöhung präexistent, nicht therapieassoziiert. Gentherapie gut vertragen. Weiterführung der Prednisolon-Therapie. Nächste Kontrolle in 4 Wochen." }] }, "request" : { "method" : "POST", "url" : "ClinicalImpression" } }, { "fullUrl" : "urn:uuid:8320638f-eca2-4586-b173-bd0c49d9ae9d", "resource" : { "resourceType" : "Encounter", "id" : "mii-exa-seltene-encounter-screening-001", "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: Encounter mii-exa-seltene-encounter-screening-001

status: Finished

class: ActCode: AMB (ambulatory)

type: Neonatal screening (procedure)

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

period: 2024-07-18 --> 2024-07-18

reasonCode: Neugeborenenscreening

" }, "status" : "finished", "class" : { "system" : "http://terminology.hl7.org/CodeSystem/v3-ActCode", "code" : "AMB", "display" : "ambulatory" }, "type" : [{ "coding" : [{ "system" : "http://snomed.info/sct", "code" : "60151004", "display" : "Neonatal screening (procedure)" }] }], "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "period" : { "start" : "2024-07-18", "end" : "2024-07-18" }, "reasonCode" : [{ "text" : "Neugeborenenscreening" }] }, "request" : { "method" : "POST", "url" : "Encounter" } }, { "fullUrl" : "urn:uuid:98afd481-d1d6-4c2e-9d1c-51c651964e5f", "resource" : { "resourceType" : "Encounter", "id" : "mii-exa-seltene-encounter-ambulant-001", "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: Encounter mii-exa-seltene-encounter-ambulant-001

status: Finished

class: ActCode: AMB (ambulatory)

type: Follow-up encounter

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

period: 2024-07-22 --> 2024-07-22

Diagnoses

-ConditionUse
*Condition Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]Admission diagnosis
" }, "status" : "finished", "class" : { "system" : "http://terminology.hl7.org/CodeSystem/v3-ActCode", "code" : "AMB", "display" : "ambulatory" }, "type" : [{ "coding" : [{ "system" : "http://snomed.info/sct", "code" : "390906007", "display" : "Follow-up encounter" }] }], "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "period" : { "start" : "2024-07-22", "end" : "2024-07-22" }, "diagnosis" : [{ "condition" : { "reference" : "Condition/mii-exa-seltene-condition-sma-clinical" }, "use" : { "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/diagnosis-role", "code" : "AD", "display" : "Admission diagnosis" }] } }] }, "request" : { "method" : "POST", "url" : "Encounter" } }, { "fullUrl" : "urn:uuid:bdb5bd40-064b-4b79-aab6-8d9cc9db4873", "resource" : { "resourceType" : "Encounter", "id" : "mii-exa-seltene-encounter-stationaer-001", "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: Encounter mii-exa-seltene-encounter-stationaer-001

status: Finished

class: ActCode: IMP (inpatient encounter)

type: Hospital admission

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

period: 2024-07-29 --> 2024-07-30

Diagnoses

-ConditionUse
*Condition Spinal muscular atrophy, type IChief complaint
" }, "status" : "finished", "class" : { "system" : "http://terminology.hl7.org/CodeSystem/v3-ActCode", "code" : "IMP", "display" : "inpatient encounter" }, "type" : [{ "coding" : [{ "system" : "http://snomed.info/sct", "code" : "32485007", "display" : "Hospital admission" }] }], "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "period" : { "start" : "2024-07-29", "end" : "2024-07-30" }, "diagnosis" : [{ "condition" : { "reference" : "Condition/mii-exa-seltene-condition-sma-genetic" }, "use" : { "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/diagnosis-role", "code" : "CC", "display" : "Chief complaint" }] } }] }, "request" : { "method" : "POST", "url" : "Encounter" } }, { "fullUrl" : "urn:uuid:f8e29cb1-a8a9-4d56-ac0e-65fca096f860", "resource" : { "resourceType" : "Encounter", "id" : "mii-exa-seltene-encounter-nachsorge-001", "language" : "en", "text" : { "status" : "generated", "div" : "

English

Generated Narrative: Encounter mii-exa-seltene-encounter-nachsorge-001

status: Finished

class: ActCode: AMB (ambulatory)

type: Follow-up encounter

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

period: 2024-08-12 --> 2024-08-12

Diagnoses

-Condition
*Condition Spinal muscular atrophy, type I
" }, "status" : "finished", "class" : { "system" : "http://terminology.hl7.org/CodeSystem/v3-ActCode", "code" : "AMB", "display" : "ambulatory" }, "type" : [{ "coding" : [{ "system" : "http://snomed.info/sct", "code" : "390906007", "display" : "Follow-up encounter" }] }], "subject" : { "reference" : "Patient/mii-exa-seltene-patient-sma-001" }, "period" : { "start" : "2024-08-12", "end" : "2024-08-12" }, "diagnosis" : [{ "condition" : { "reference" : "Condition/mii-exa-seltene-condition-sma-genetic" } }] }, "request" : { "method" : "POST", "url" : "Encounter" } }] }