MII-Initiative

MII Erweiterungsmodul Seltene Erkrankungen

FamilyMemberHistory

Familienanamnese im Rahmen des MBDS-SE

Die Familienanamnese erfasst Verwandschaftsstatus, Geschlecht und relevante Krankheitsbilder, insofern sie für die Diagnostik von SE von Relevanz sind. Die Einschlusskriterien der Krankheitsbilder variieren dabei je nach (vermuteter oder bestätigter) Diagnose des Patienten. So kann es bei einigen metabolischen Erkrankungsbildern sinnvoll sein, die Familienanamnese von kardiovaskulären Erkrankungen zu erheben, während dies bei anderen Erkrankungen unerheblich ist.
Jedes Familienanamnese-Profil ist dabei einem Familienmitglied zugeordnet, wobei folgende Datenpunkte voeGeschlecht, Verwandschaftsgrad, Alter und Vitalstatus nach vor

geschlecht
Differential

idΣ0..1string
metaΣ0..1Meta
implicitRulesΣ ?!0..1uri
language0..1codeBinding
text0..1Narrative
contained0..*Resource
extensionI0..*Extension
modifierExtension?! I0..*Extension
identifierΣ0..*Identifier
instantiatesCanonicalΣ0..*canonical(PlanDefinition | Questionnaire | ActivityDefinition | Measure | OperationDefinition)
instantiatesUriΣ0..*uri
statusS Σ ?!1..1codeBinding
dataAbsentReasonΣ0..1CodeableConcept
patientS Σ I1..1MII-Reference(Patient)
dateS Σ0..1dateTime
nameΣ0..1string
id0..1string
extensionI0..*Extension
id0..1string
VerwandtschaftsgradS I0..1Extension(Coding)
VerwandtschaftsverhaeltnisS I0..1Extension(Coding)
FamiliareLinieS I0..1Extension(Coding)
systemΣ0..1uriPattern
versionΣ0..1string
codeΣ0..1code
displayΣ0..1string
userSelectedΣ0..1boolean
v3-RoleCodeΣ0..1CodingBindingPattern
textΣ0..1string
sexS Σ0..1CodeableConceptBinding
bornDatedate
ageAgeAge
ageRangeRange
ageStringstring
estimatedAgeΣ I0..1boolean
deceasedBooleanboolean
deceasedAgeAge
deceasedRangeRange
deceasedDatedate
deceasedStringstring
id0..1string
extensionI0..*Extension
id0..1string
Mehrfachcodierungs-KennzeichenI0..1Extension(Coding)
SeitenlokalisationI0..1Extension(Coding)
DiagnosesicherheitI0..1Extension(Coding)
systemS Σ1..1uriFixed ValuePattern
versionS Σ1..1string
codeS Σ I1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
extensionI0..*Extension
systemS Σ1..1uriFixed ValuePattern
versionΣ1..1string
codeS Σ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
extensionI0..*Extension
systemS Σ1..1uriPattern
versionΣ0..1string
codeS Σ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
extensionI0..*Extension
systemS Σ1..1uriPattern
versionΣ0..1string
codeS Σ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
textΣ0..1string
reasonReferenceS Σ0..*Reference(Condition | Observation | AllergyIntolerance | QuestionnaireResponse | DiagnosticReport | DocumentReference)
note0..*Annotation
id0..1string
extensionI0..*Extension
modifierExtensionΣ ?! I0..*Extension
id0..1string
extensionI0..*Extension
id0..1string
Mehrfachcodierungs-KennzeichenI0..1Extension(Coding)
SeitenlokalisationI0..1Extension(Coding)
DiagnosesicherheitI0..1Extension(Coding)
systemS Σ1..1uriFixed ValuePattern
versionS Σ1..1string
codeS Σ I1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
extensionI0..*Extension
systemS Σ1..1uriFixed ValuePattern
versionΣ1..1string
codeS Σ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
extensionI0..*Extension
systemS Σ1..1uriPattern
versionΣ0..1string
codeS Σ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
extensionI0..*Extension
systemS Σ1..1uriPattern
versionΣ0..1string
codeS Σ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
textΣ0..1string
outcome0..1CodeableConcept
contributedToDeath0..1boolean
onsetAgeAge
onsetRangeRange
onsetPeriodPeriod
onsetStringstring
note0..*Annotation


Snapshot

idΣ0..1string
metaΣ0..1Meta
implicitRulesΣ ?!0..1uri
language0..1codeBinding
text0..1Narrative
contained0..*Resource
extensionI0..*Extension
modifierExtension?! I0..*Extension
identifierΣ0..*Identifier
instantiatesCanonicalΣ0..*canonical(PlanDefinition | Questionnaire | ActivityDefinition | Measure | OperationDefinition)
instantiatesUriΣ0..*uri
statusS Σ ?!1..1codeBinding
dataAbsentReasonΣ0..1CodeableConcept
patientS Σ I1..1MII-Reference(Patient)
dateS Σ0..1dateTime
nameΣ0..1string
id0..1string
extensionI0..*Extension
id0..1string
VerwandtschaftsgradS I0..1Extension(Coding)
VerwandtschaftsverhaeltnisS I0..1Extension(Coding)
FamiliareLinieS I0..1Extension(Coding)
systemΣ0..1uriPattern
versionΣ0..1string
codeΣ0..1code
displayΣ0..1string
userSelectedΣ0..1boolean
v3-RoleCodeΣ0..1CodingBindingPattern
textΣ0..1string
sexS Σ0..1CodeableConceptBinding
bornDatedate
ageAgeAge
ageRangeRange
ageStringstring
estimatedAgeΣ I0..1boolean
deceasedBooleanboolean
deceasedAgeAge
deceasedRangeRange
deceasedDatedate
deceasedStringstring
id0..1string
extensionI0..*Extension
id0..1string
Mehrfachcodierungs-KennzeichenI0..1Extension(Coding)
SeitenlokalisationI0..1Extension(Coding)
DiagnosesicherheitI0..1Extension(Coding)
systemS Σ1..1uriFixed ValuePattern
versionS Σ1..1string
codeS Σ I1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
extensionI0..*Extension
systemS Σ1..1uriFixed ValuePattern
versionΣ1..1string
codeS Σ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
extensionI0..*Extension
systemS Σ1..1uriPattern
versionΣ0..1string
codeS Σ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
extensionI0..*Extension
systemS Σ1..1uriPattern
versionΣ0..1string
codeS Σ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
textΣ0..1string
reasonReferenceS Σ0..*Reference(Condition | Observation | AllergyIntolerance | QuestionnaireResponse | DiagnosticReport | DocumentReference)
note0..*Annotation
id0..1string
extensionI0..*Extension
modifierExtensionΣ ?! I0..*Extension
id0..1string
extensionI0..*Extension
id0..1string
Mehrfachcodierungs-KennzeichenI0..1Extension(Coding)
SeitenlokalisationI0..1Extension(Coding)
DiagnosesicherheitI0..1Extension(Coding)
systemS Σ1..1uriFixed ValuePattern
versionS Σ1..1string
codeS Σ I1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
extensionI0..*Extension
systemS Σ1..1uriFixed ValuePattern
versionΣ1..1string
codeS Σ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
extensionI0..*Extension
systemS Σ1..1uriPattern
versionΣ0..1string
codeS Σ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
extensionI0..*Extension
systemS Σ1..1uriPattern
versionΣ0..1string
codeS Σ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
textΣ0..1string
outcome0..1CodeableConcept
contributedToDeath0..1boolean
onsetAgeAge
onsetRangeRange
onsetPeriodPeriod
onsetStringstring
note0..*Annotation


Beispiele

{
    "resourceType": "FamilyMemberHistory",
    "id": "ExampleHistoryAnamnesis",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/familienanamnese"
        ]
    },
    "relationship": {
        "coding":  [
            {
                "system": "http://snomed.info/sct",
                "code": "65656005",
                "display": "Natural Mother (person)"
            }
        ]
    },
    "status": "completed",
    "patient": {
        "reference": "Patient/example"
    },
    "reasonCode":  [
        {
            "coding":  [
                {
                    "code": "666",
                    "system": "http://www.orpha.net"
                }
            ]
        }
    ],
    "sex": {
        "coding":  [
            {
                "code": "female"
            }
        ]
    },
    "bornDate": "1954",
    "deceasedDate": "2004",
    "condition":  [
        {
            "code": {
                "coding":  [
                    {
                        "code": "H35.8",
                        "system": "http://fhir.de/CodeSystem/bfarm/icd-10-gm",
                        "version": "2004"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "code": "E11.X",
                        "system": "http://fhir.de/CodeSystem/bfarm/icd-10-gm",
                        "version": "2004"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "code": "I21.2",
                        "system": "http://fhir.de/CodeSystem/bfarm/icd-10-gm",
                        "version": "2004"
                    }
                ]
            },
            "contributedToDeath": true
        }
    ]
}