This profile describes the family history in the context of rare diseases. It enables the structured recording of diseases in family members, with a particular focus on genetic and hereditary components of rare diseases.

Important: A separate FamilyMemberHistory resource is created for each family member. A family member can have several diseases, all of which are documented in the same resource under condition. To document the death of the index patient due to a rare disease, a FamilyMemberHistory resource with relationship.coding[snomed] = 116154003 | Patient | can also be created (see section "For the index patient" below).

Clinical relevance

The family history is of particular importance in rare diseases, as many of these diseases have a genetic component. Structured recording enables:

• Identification of familial clustering
• Assessment of the inheritance pattern
• Risk stratification for relatives
• Planning of genetic counseling and testing

Death due to a rare disease

Whether a disease contributed to death is documented via the standard FHIR element FamilyMemberHistory.condition.contributedToDeath. This boolean element is MustSupport and enables a clear association between a specific disease and the death.

For family members

Document the death of a family member due to a rare disease as follows:

• relationship: family relationship (e.g. father, mother, sibling)
• deceased[x]: time or age of death
• condition.code: the rare disease with ICD-10-GM, ORPHAcodes or SNOMED CT
• condition.contributedToDeath = true: indication that this disease contributed to death

For the index patient

The FamilyMemberHistory profile can also be used to document the death of the index patient due to a rare disease:

• relationship.coding[snomed]: set to 116154003 | Patient | (available in the MolGen ValueSet)
• patient: reference to the index patient
• deceased[x]: time or age of death of the patient
• condition.code: the rare disease that led to death
• condition.contributedToDeath = true

This modeling enables uniform documentation of deaths due to rare diseases for family members and the patient, without having to extend the Patient profile.

Example

{
  "resourceType": "FamilyMemberHistory",
  "status": "completed",
  "patient": {"reference": "Patient/example"},
  "relationship": {
    "coding": [{
      "system": "http://snomed.info/sct",
      "code": "72705000",
      "display": "Mother"
    }]
  },
  "deceasedAge": {"value": 52, "unit": "a", "system": "http://unitsofmeasure.org"},
  "condition": [{
    "code": {
      "coding": [{
        "system": "http://www.orpha.net",
        "code": "558",
        "display": "Marfan-Syndrom"
      }]
    },
    "contributedToDeath": true
  }]
}

MONDO coding (secondary harmonization ontology)

Note: MONDO is a secondary harmonization ontology and not a primary diagnostic target. The primary coding of the family disease uses ICD-10-GM, Alpha-ID, SNOMED CT or ORPHAcodes. MONDO codes can optionally be added in condition.code.coding[mondo].

MONDO (Monarch Disease Ontology) harmonizes different classifications and enables integration with international standards such as Phenopackets and GA4GH. Further information can be found under Terminologies.

Mapping of the logical data model to FHIR

The following mapping shows the family history elements from the logical data model for rare diseases:

Assignment to FHIR elements

The elements of the logical data model are mapped to the FamilyMemberHistory profile as follows:

Search parameters are declared module-wide in the CapabilityStatement — machine-readable and complete there, rather than repeated by hand per profile.

Example instances are linked in the "Examples" section of the profile page.

• Key Elements Table
• Differential Table
• Snapshot Table
• Statistics/References
• All

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
FamilyMemberHistory	C	0..*	MII_PR_MolGen_Familienanamnese	Information about patient's relatives, relevant for patient Constraints: fhs-1, fhs-2
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
Slices for extension		1..*	Extension	Extension Slice: Unordered, Open by value:url
extension:vonSEBetroffen	S	1..1	CodeableConcept	Gibt an, ob das Familienmitglied von der gleichen seltenen Erkrankung betroffen ist URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-von-se-betroffen Binding: Von SE betroffen Value Set (required)
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
status	?!SΣ	1..1	code	Status Binding: FamilyHistoryStatus (required): A code that identifies the status of the family history record.
patient	SΣ	1..1	Reference(Patient)	Patient
date	SΣ	0..1	dateTime	Datum
relationship	SΣ	1..1	CodeableConcept	Verwandtschaftsbeziehung Binding: FamilyMember (example): The nature of the relationship between the patient and the related person being described in the family member history.
Slices for coding	Σ	1..*	Coding	Code defined by a terminology system Slice: Unordered, Open by pattern:$this
coding:snomed	Σ	1..1	Coding	Code defined by a terminology system Binding: MII VS MolGen Family Member SNOMED (extensible) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://snomed.info/sct
version		0..1	string	Version of the system - if relevant
code		0..1	code	Symbol in syntax defined by the system
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
Slices for extension				Content/Rules for all slices
extension:Verwandtschaftsgrad	S	0..1	Coding	Verwandtschaftsgrad URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-verwandtschaftsgrad Binding: MII VS Mol Gen Verwandtschaftsgrad (required)
extension:Verwandtschaftsverhaeltnis	S	0..1	Coding	Verwandtschaftsverhältnis URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-verwandtschaftsverhaeltnis Binding: MII VS MolGen Verwandtschaftsverhaeltnis (extensible)
extension:FamiliareLinie	S	0..1	Coding	Familiäre Linie URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-familiare-linie Binding: MII VS MolGen Familiäre Linie (required)
coding:v3-RoleCode	Σ	0..1	Coding	Code defined by a terminology system Binding: PersonalRelationshipRoleType (extensible) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/v3-RoleCode
version		0..1	string	Version of the system - if relevant
code		0..1	code	Symbol in syntax defined by the system
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
sex	SΣ	0..1	CodeableConcept	Geschlecht Binding: AdministrativeGender (extensible): Codes describing the sex assigned at birth as documented on the birth registration.
born[x]	SC	0..1		(approximate) date of birth
bornPeriod			Period
bornDate			date
bornString			string
age[x]	SΣC	0..1		(approximate) age
ageAge			Age
ageRange			Range
ageString			string
Slices for deceased[x]	SΣ	0..1		Dead? How old/when? Slice: Unordered, Open by type:$this
deceasedBoolean			boolean
deceasedAge			Age
deceasedRange			Range
deceasedDate			date
deceasedString			string
deceased[x]:deceasedBoolean	Σ	0..1	boolean	Dead? How old/when?
deceased[x]:deceasedDate	Σ	0..1	date	Dead? How old/when?
deceased[x]:deceasedAge	Σ	0..1	Age	Dead? How old/when?
reasonCode	SΣ	0..*	CodeableConcept	Grund der Erhebung Binding: SNOMEDCTClinicalFindings (example): Codes indicating why the family member history was done.
Slices for coding	SΣ	1..*	Coding	Kodierung Slice: Unordered, Open by pattern:$this
coding:icd10-gm	SΣ	0..1	Coding	ICD-10-GM Kodierung Binding: MII VS Diagnose ICD-10-GM (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
system	SΣ	1..1	uri	System Fixed Value: http://fhir.de/CodeSystem/bfarm/icd-10-gm
version	SΣ	1..1	string	Version
code	SΣ	1..1	code	Code
coding:alpha-id	SΣ	0..1	Coding	Alpha-ID Kodierung Binding: MII VS Diagnose Alpha-ID (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
version		0..1	string	Version of the system - if relevant
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
system	SΣ	1..1	uri	System Fixed Value: http://fhir.de/CodeSystem/bfarm/alpha-id
code	SΣ	1..1	code	Code
coding:sct	SΣ	0..1	Coding	SNOMED CT Kodierung Binding: MII VS Diagnose Diagnose-Codes SNOMED (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
version		0..1	string	Version of the system - if relevant
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
system	SΣ	1..1	uri	System Fixed Value: http://snomed.info/sct
code	SΣ	1..1	code	Code
coding:orphanet	SΣ	0..1	Coding	Orphanet Kodierung Binding: MII VS Diagnose Orphanet (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
version		0..1	string	Version of the system - if relevant
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
system	SΣ	1..1	uri	System Fixed Value: http://www.orpha.net
code	SΣ	1..1	code	Code
reasonReference	SΣ	0..*	Reference(Condition | Observation | AllergyIntolerance | QuestionnaireResponse | DiagnosticReport | DocumentReference)	Referenz zum Grund
condition	S	0..*	BackboneElement	Erkrankung
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension:penetrance	S	0..1	CodeableConcept	Penetranz der genetischen Variante beim Familienmitglied URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance Binding: MII VS SE Penetrance (extensible)
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	S	1..1	CodeableConcept	Erkrankungscode Binding: Condition/Problem/DiagnosisCodes (example): Identification of the Condition or diagnosis.
Slices for coding	SΣ	1..*	Coding	Kodierung Slice: Unordered, Open by pattern:$this
coding:icd10-gm	SΣ	0..1	CodingICD10GM	ICD-10-GM Kodierung Binding: MII VS Diagnose ICD-10-GM (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
Slices for extension				Content/Rules for all slices
extension:Mehrfachcodierungs-Kennzeichen		0..1	Coding	Optional Extensions Element URL: http://fhir.de/StructureDefinition/icd-10-gm-mehrfachcodierungs-kennzeichen Binding: Mehrfachkodierungs-Kennzeichen ICD10GM ValueSet (required)
extension:Seitenlokalisation		0..1	Coding	Optional Extensions Element URL: http://fhir.de/StructureDefinition/seitenlokalisation Binding: KBV_VS_SFHIR_ICD_SEITENLOKALISATION (required)
extension:Diagnosesicherheit		0..1	Coding	Optional Extensions Element URL: http://fhir.de/StructureDefinition/icd-10-gm-diagnosesicherheit Binding: KBV_VS_SFHIR_ICD_DIAGNOSESICHERHEIT (required)
system	SΣ	1..1	uri	System Fixed Value: http://fhir.de/CodeSystem/bfarm/icd-10-gm
version	SΣ	1..1	string	Version
code	SΣC	1..1	code	Code Constraints: icd-regex Example Einfacher ICD-Code: F17.4
coding:alpha-id	SΣ	0..1	CodingAlphaID	Alpha-ID Kodierung Binding: MII VS Diagnose Alpha-ID (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
system	SΣ	1..1	uri	System Fixed Value: http://fhir.de/CodeSystem/bfarm/alpha-id
version	Σ	1..1	string	Die Jahresversion von Alpha-ID. Angegeben wird immer die vierstellige Jahreszahl (z.B. "2017")
code	SΣ	1..1	code	Code
coding:sct	SΣ	0..1	Coding	SNOMED CT Kodierung Binding: MII VS Diagnose Diagnose-Codes SNOMED (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
version		0..1	string	Version of the system - if relevant
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
system	SΣ	1..1	uri	System Fixed Value: http://snomed.info/sct
code	SΣ	1..1	code	Code
coding:orphanet	SΣ	0..1	Coding	Orphanet Kodierung Binding: MII VS Diagnose Orphanet (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
version		0..1	string	Version of the system - if relevant
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
system	SΣ	1..1	uri	System Fixed Value: http://www.orpha.net
code	SΣ	1..1	code	Code
coding:mondo	SΣ	0..1	Coding	MONDO Code für die Erkrankung Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
version		0..1	string	Version of the system - if relevant
userSelected		0..1	boolean	If this coding was chosen directly by the user
system	Σ	1..1	uri	Identity of the terminology system Fixed Value: http://purl.obolibrary.org/obo/mondo.owl
code	Σ	1..1	code	Symbol in syntax defined by the system
display	SΣ	0..1	string	Representation defined by the system
contributedToDeath	S	0..1	boolean	Tod durch diese Erkrankung
Slices for onset[x]	S	0..1		When condition first manifested Slice: Unordered, Open by type:$this
onsetAge			Age
onsetRange			Range
onsetPeriod			Period
onsetString			string
onset[x]:onsetAge		0..1	Age	When condition first manifested
Documentation for this format

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
FamilyMemberHistory.​status	Base	required	FamilyHistoryStatus	📍4.0.1	FHIR Std.
FamilyMemberHistory.​relationship	Base	example	FamilyMember	📦3.0.0	THO v7.3
FamilyMemberHistory.​relationship.coding:snomed	Base	extensible	MII VS MolGen Family Member SNOMED	📦2027.0.0-ballot.1	MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht v2027.0
FamilyMemberHistory.​relationship.coding:v3-RoleCode	Base	extensible	PersonalRelationshipRoleType	📦3.0.0	THO v7.3
FamilyMemberHistory.​sex	Base	extensible	AdministrativeGender	📍4.0.1	FHIR Std.
FamilyMemberHistory.​reasonCode	Base	example	SNOMED CT Clinical Findings	📍4.0.1	FHIR Std.
FamilyMemberHistory.​reasonCode.coding:icd10-gm	Base	required	MII VS Diagnose ICD-10-GM	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​reasonCode.coding:alpha-id	Base	required	MII VS Diagnose Alpha-ID	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​reasonCode.coding:sct	Base	required	MII VS Diagnose Diagnose-Codes SNOMED	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​reasonCode.coding:orphanet	Base	required	MII VS Diagnose Orphanet	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.code	Base	example	Condition/Problem/Diagnosis Codes	📍4.0.1	FHIR Std.
FamilyMemberHistory.​condition.code.coding:icd10-gm	Base	required	MII VS Diagnose ICD-10-GM	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.code.coding:alpha-id	Base	required	MII VS Diagnose Alpha-ID	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.code.coding:sct	Base	required	MII VS Diagnose Diagnose-Codes SNOMED	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.code.coding:orphanet	Base	required	MII VS Diagnose Orphanet	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0

Constraints

Id	Grade	Path(s)	Description	Expression
dom-2	error	FamilyMemberHistory	If the resource is contained in another resource, it SHALL NOT contain nested Resources	contained.contained.empty()
dom-3	error	FamilyMemberHistory	If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource	contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4	error	FamilyMemberHistory	If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated	contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5	error	FamilyMemberHistory	If a resource is contained in another resource, it SHALL NOT have a security label	contained.meta.security.empty()
dom-6	best practice	FamilyMemberHistory	A resource should have narrative for robust management	text.`div`.exists()
ele-1	error	**ALL** elements	All FHIR elements must have a @value or children	hasValue() or (children().count() > id.count())
ext-1	error	**ALL** extensions	Must have either extensions or value[x], not both	extension.exists() != value.exists()
fhs-1	error	FamilyMemberHistory	Can have age[x] or born[x], but not both	age.empty() or born.empty()
fhs-2	error	FamilyMemberHistory	Can only have estimatedAge if age[x] is present	age.exists() or estimatedAge.empty()
icd-regex	warning	FamilyMemberHistory.condition.code.coding:icd10-gm.code	In code sind nur gültige ICD-10-Codes ohne Zusätze erlaubt	matches('^[A-Z][0-9][A-Z0-9](\\.?[A-Z0-9]{0,4})?$')

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
FamilyMemberHistory		0..*	MII_PR_MolGen_Familienanamnese	Information about patient's relatives, relevant for patient
Slices for extension		1..*	Extension	Extension Slice: Unordered, Open by value:url
extension:vonSEBetroffen	S	1..1	CodeableConcept	Gibt an, ob das Familienmitglied von der gleichen seltenen Erkrankung betroffen ist URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-von-se-betroffen Binding: Von SE betroffen Value Set (required)
patient		1..1	Reference(Patient)	Patient
date		0..1	dateTime	Datum
relationship		1..1	CodeableConcept	Verwandtschaftsbeziehung
sex		0..1	CodeableConcept	Geschlecht
born[x]	S	0..1	Period, date, string	(approximate) date of birth
age[x]	S	0..1	Age, Range, string	(approximate) age
Slices for deceased[x]	S	0..1	boolean, Age, Range, date, string	Dead? How old/when? Slice: Unordered, Open by type:$this
deceased[x]:deceasedBoolean		0..1	boolean	Dead? How old/when?
deceased[x]:deceasedDate		0..1	date	Dead? How old/when?
deceased[x]:deceasedAge		0..1	Age	Dead? How old/when?
reasonCode		0..*	CodeableConcept	Grund der Erhebung
condition
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension:penetrance	S	0..1	CodeableConcept	Penetranz der genetischen Variante beim Familienmitglied URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance Binding: MII VS SE Penetrance (extensible)
code
Slices for coding				Content/Rules for all slices
coding:icd10-gm		0..1	CodingICD10GM	ICD-10-GM Kodierung
coding:sct		0..1	Coding	SNOMED CT Kodierung
coding:orphanet		0..1	Coding	Orphanet Kodierung
coding:mondo	S	0..1	Coding	MONDO Code für die Erkrankung Required Pattern: At least the following
system		1..1	uri	Identity of the terminology system Fixed Value: http://purl.obolibrary.org/obo/mondo.owl
code		1..1	code	Symbol in syntax defined by the system
display	S	0..1	string	Representation defined by the system
contributedToDeath	S	0..1	boolean	Tod durch diese Erkrankung
Slices for onset[x]	S	0..1	Age, Range, Period, string	When condition first manifested Slice: Unordered, Open by type:$this
onset[x]:onsetAge		0..1	Age	When condition first manifested
Documentation for this format

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
FamilyMemberHistory	C	0..*	MII_PR_MolGen_Familienanamnese	Information about patient's relatives, relevant for patient Constraints: fhs-1, fhs-2
id	Σ	0..1	id	Logical id of this artifact
meta	Σ	0..1	Meta	Metadata about the resource
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
text		0..1	Narrative	Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements
contained		0..*	Resource	Contained, inline Resources
Slices for extension		1..*	Extension	Extension Slice: Unordered, Open by value:url
extension:vonSEBetroffen	S	1..1	CodeableConcept	Gibt an, ob das Familienmitglied von der gleichen seltenen Erkrankung betroffen ist URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-von-se-betroffen Binding: Von SE betroffen Value Set (required)
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
identifier	Σ	0..*	Identifier	External Id(s) for this record
instantiatesCanonical	Σ	0..*	canonical(PlanDefinition | Questionnaire | ActivityDefinition | Measure | OperationDefinition)	Instantiates FHIR protocol or definition
instantiatesUri	Σ	0..*	uri	Instantiates external protocol or definition
status	?!SΣ	1..1	code	Status Binding: FamilyHistoryStatus (required): A code that identifies the status of the family history record.
dataAbsentReason	Σ	0..1	CodeableConcept	subject-unknown | withheld | unable-to-obtain | deferred Binding: FamilyHistoryAbsentReason (example): Codes describing the reason why a family member's history is not available.
patient	SΣ	1..1	Reference(Patient)	Patient
date	SΣ	0..1	dateTime	Datum
name	Σ	0..1	string	The family member described
relationship	SΣ	1..1	CodeableConcept	Verwandtschaftsbeziehung Binding: FamilyMember (example): The nature of the relationship between the patient and the related person being described in the family member history.
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
Slices for coding	Σ	1..*	Coding	Code defined by a terminology system Slice: Unordered, Open by pattern:$this
coding:snomed	Σ	1..1	Coding	Code defined by a terminology system Binding: MII VS MolGen Family Member SNOMED (extensible) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
Slices for extension				Content/Rules for all slices
extension:Verwandtschaftsgrad	S	0..1	Coding	Verwandtschaftsgrad URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-verwandtschaftsgrad Binding: MII VS Mol Gen Verwandtschaftsgrad (required)
extension:Verwandtschaftsverhaeltnis	S	0..1	Coding	Verwandtschaftsverhältnis URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-verwandtschaftsverhaeltnis Binding: MII VS MolGen Verwandtschaftsverhaeltnis (extensible)
extension:FamiliareLinie	S	0..1	Coding	Familiäre Linie URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-familiare-linie Binding: MII VS MolGen Familiäre Linie (required)
system	Σ	0..1	uri	Identity of the terminology system Fixed Value: http://snomed.info/sct
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
coding:v3-RoleCode	Σ	0..1	Coding	Code defined by a terminology system Binding: PersonalRelationshipRoleType (extensible) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/v3-RoleCode
version		0..1	string	Version of the system - if relevant
code		0..1	code	Symbol in syntax defined by the system
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
sex	SΣ	0..1	CodeableConcept	Geschlecht Binding: AdministrativeGender (extensible): Codes describing the sex assigned at birth as documented on the birth registration.
born[x]	SC	0..1		(approximate) date of birth
bornPeriod			Period
bornDate			date
bornString			string
age[x]	SΣC	0..1		(approximate) age
ageAge			Age
ageRange			Range
ageString			string
estimatedAge	ΣC	0..1	boolean	Age is estimated?
Slices for deceased[x]	SΣ	0..1		Dead? How old/when? Slice: Unordered, Open by type:$this
deceasedBoolean			boolean
deceasedAge			Age
deceasedRange			Range
deceasedDate			date
deceasedString			string
deceased[x]:deceasedBoolean	Σ	0..1	boolean	Dead? How old/when?
deceased[x]:deceasedDate	Σ	0..1	date	Dead? How old/when?
deceased[x]:deceasedAge	Σ	0..1	Age	Dead? How old/when?
reasonCode	SΣ	0..*	CodeableConcept	Grund der Erhebung Binding: SNOMEDCTClinicalFindings (example): Codes indicating why the family member history was done.
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
Slices for coding	SΣ	1..*	Coding	Kodierung Slice: Unordered, Open by pattern:$this
coding:icd10-gm	SΣ	0..1	Coding	ICD-10-GM Kodierung Binding: MII VS Diagnose ICD-10-GM (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	SΣ	1..1	uri	System Fixed Value: http://fhir.de/CodeSystem/bfarm/icd-10-gm
version	SΣ	1..1	string	Version
code	SΣ	1..1	code	Code
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
coding:alpha-id	SΣ	0..1	Coding	Alpha-ID Kodierung Binding: MII VS Diagnose Alpha-ID (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	SΣ	1..1	uri	System Fixed Value: http://fhir.de/CodeSystem/bfarm/alpha-id
version	Σ	0..1	string	Version of the system - if relevant
code	SΣ	1..1	code	Code
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
coding:sct	SΣ	0..1	Coding	SNOMED CT Kodierung Binding: MII VS Diagnose Diagnose-Codes SNOMED (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	SΣ	1..1	uri	System Fixed Value: http://snomed.info/sct
version	Σ	0..1	string	Version of the system - if relevant
code	SΣ	1..1	code	Code
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
coding:orphanet	SΣ	0..1	Coding	Orphanet Kodierung Binding: MII VS Diagnose Orphanet (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	SΣ	1..1	uri	System Fixed Value: http://www.orpha.net
version	Σ	0..1	string	Version of the system - if relevant
code	SΣ	1..1	code	Code
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
reasonReference	SΣ	0..*	Reference(Condition | Observation | AllergyIntolerance | QuestionnaireResponse | DiagnosticReport | DocumentReference)	Referenz zum Grund
note		0..*	Annotation	General note about related person
condition	S	0..*	BackboneElement	Erkrankung
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension:penetrance	S	0..1	CodeableConcept	Penetranz der genetischen Variante beim Familienmitglied URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance Binding: MII VS SE Penetrance (extensible)
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	S	1..1	CodeableConcept	Erkrankungscode Binding: Condition/Problem/DiagnosisCodes (example): Identification of the Condition or diagnosis.
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
Slices for coding	SΣ	1..*	Coding	Kodierung Slice: Unordered, Open by pattern:$this
coding:icd10-gm	SΣ	0..1	CodingICD10GM	ICD-10-GM Kodierung Binding: MII VS Diagnose ICD-10-GM (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
Slices for extension				Content/Rules for all slices
extension:Mehrfachcodierungs-Kennzeichen		0..1	Coding	Optional Extensions Element URL: http://fhir.de/StructureDefinition/icd-10-gm-mehrfachcodierungs-kennzeichen Binding: Mehrfachkodierungs-Kennzeichen ICD10GM ValueSet (required)
extension:Seitenlokalisation		0..1	Coding	Optional Extensions Element URL: http://fhir.de/StructureDefinition/seitenlokalisation Binding: KBV_VS_SFHIR_ICD_SEITENLOKALISATION (required)
extension:Diagnosesicherheit		0..1	Coding	Optional Extensions Element URL: http://fhir.de/StructureDefinition/icd-10-gm-diagnosesicherheit Binding: KBV_VS_SFHIR_ICD_DIAGNOSESICHERHEIT (required)
system	SΣ	1..1	uri	System Fixed Value: http://fhir.de/CodeSystem/bfarm/icd-10-gm
version	SΣ	1..1	string	Version
code	SΣC	1..1	code	Code Constraints: icd-regex Example Einfacher ICD-Code: F17.4
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
coding:alpha-id	SΣ	0..1	CodingAlphaID	Alpha-ID Kodierung Binding: MII VS Diagnose Alpha-ID (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	SΣ	1..1	uri	System Fixed Value: http://fhir.de/CodeSystem/bfarm/alpha-id
version	Σ	1..1	string	Die Jahresversion von Alpha-ID. Angegeben wird immer die vierstellige Jahreszahl (z.B. "2017")
code	SΣ	1..1	code	Code
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
coding:sct	SΣ	0..1	Coding	SNOMED CT Kodierung Binding: MII VS Diagnose Diagnose-Codes SNOMED (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	SΣ	1..1	uri	System Fixed Value: http://snomed.info/sct
version	Σ	0..1	string	Version of the system - if relevant
code	SΣ	1..1	code	Code
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
coding:orphanet	SΣ	0..1	Coding	Orphanet Kodierung Binding: MII VS Diagnose Orphanet (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	SΣ	1..1	uri	System Fixed Value: http://www.orpha.net
version	Σ	0..1	string	Version of the system - if relevant
code	SΣ	1..1	code	Code
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
coding:mondo	SΣ	0..1	Coding	MONDO Code für die Erkrankung Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	1..1	uri	Identity of the terminology system Fixed Value: http://purl.obolibrary.org/obo/mondo.owl
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	1..1	code	Symbol in syntax defined by the system
display	SΣ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
outcome		0..1	CodeableConcept	deceased | permanent disability | etc. Binding: ConditionOutcomeCodes (example): The result of the condition for the patient; e.g. death, permanent disability, temporary disability, etc.
contributedToDeath	S	0..1	boolean	Tod durch diese Erkrankung
Slices for onset[x]	S	0..1		When condition first manifested Slice: Unordered, Open by type:$this
onsetAge			Age
onsetRange			Range
onsetPeriod			Period
onsetString			string
onset[x]:onsetAge		0..1	Age	When condition first manifested
note		0..*	Annotation	Extra information about condition
Documentation for this format

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
FamilyMemberHistory.​language	Base	preferred	Common Languages	📍4.0.1	FHIR Std.
FamilyMemberHistory.​status	Base	required	FamilyHistoryStatus	📍4.0.1	FHIR Std.
FamilyMemberHistory.​dataAbsentReason	Base	example	FamilyHistoryAbsentReason	📍4.0.1	FHIR Std.
FamilyMemberHistory.​relationship	Base	example	FamilyMember	📦3.0.0	THO v7.3
FamilyMemberHistory.​relationship.coding:snomed	Base	extensible	MII VS MolGen Family Member SNOMED	📦2027.0.0-ballot.1	MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht v2027.0
FamilyMemberHistory.​relationship.coding:v3-RoleCode	Base	extensible	PersonalRelationshipRoleType	📦3.0.0	THO v7.3
FamilyMemberHistory.​sex	Base	extensible	AdministrativeGender	📍4.0.1	FHIR Std.
FamilyMemberHistory.​reasonCode	Base	example	SNOMED CT Clinical Findings	📍4.0.1	FHIR Std.
FamilyMemberHistory.​reasonCode.coding:icd10-gm	Base	required	MII VS Diagnose ICD-10-GM	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​reasonCode.coding:alpha-id	Base	required	MII VS Diagnose Alpha-ID	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​reasonCode.coding:sct	Base	required	MII VS Diagnose Diagnose-Codes SNOMED	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​reasonCode.coding:orphanet	Base	required	MII VS Diagnose Orphanet	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.code	Base	example	Condition/Problem/Diagnosis Codes	📍4.0.1	FHIR Std.
FamilyMemberHistory.​condition.code.coding:icd10-gm	Base	required	MII VS Diagnose ICD-10-GM	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.code.coding:alpha-id	Base	required	MII VS Diagnose Alpha-ID	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.code.coding:sct	Base	required	MII VS Diagnose Diagnose-Codes SNOMED	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.code.coding:orphanet	Base	required	MII VS Diagnose Orphanet	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.outcome	Base	example	Condition Outcome Codes	📍4.0.1	FHIR Std.

Constraints

Id	Grade	Path(s)	Description	Expression
dom-2	error	FamilyMemberHistory	If the resource is contained in another resource, it SHALL NOT contain nested Resources	contained.contained.empty()
dom-3	error	FamilyMemberHistory	If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource	contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4	error	FamilyMemberHistory	If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated	contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5	error	FamilyMemberHistory	If a resource is contained in another resource, it SHALL NOT have a security label	contained.meta.security.empty()
dom-6	best practice	FamilyMemberHistory	A resource should have narrative for robust management	text.`div`.exists()
ele-1	error	**ALL** elements	All FHIR elements must have a @value or children	hasValue() or (children().count() > id.count())
ext-1	error	**ALL** extensions	Must have either extensions or value[x], not both	extension.exists() != value.exists()
fhs-1	error	FamilyMemberHistory	Can have age[x] or born[x], but not both	age.empty() or born.empty()
fhs-2	error	FamilyMemberHistory	Can only have estimatedAge if age[x] is present	age.exists() or estimatedAge.empty()
icd-regex	warning	FamilyMemberHistory.condition.code.coding:icd10-gm.code	In code sind nur gültige ICD-10-Codes ohne Zusätze erlaubt	matches('^[A-Z][0-9][A-Z0-9](\\.?[A-Z0-9]{0,4})?$')

Key Elements View

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
FamilyMemberHistory	C	0..*	MII_PR_MolGen_Familienanamnese	Information about patient's relatives, relevant for patient Constraints: fhs-1, fhs-2
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
Slices for extension		1..*	Extension	Extension Slice: Unordered, Open by value:url
extension:vonSEBetroffen	S	1..1	CodeableConcept	Gibt an, ob das Familienmitglied von der gleichen seltenen Erkrankung betroffen ist URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-von-se-betroffen Binding: Von SE betroffen Value Set (required)
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
status	?!SΣ	1..1	code	Status Binding: FamilyHistoryStatus (required): A code that identifies the status of the family history record.
patient	SΣ	1..1	Reference(Patient)	Patient
date	SΣ	0..1	dateTime	Datum
relationship	SΣ	1..1	CodeableConcept	Verwandtschaftsbeziehung Binding: FamilyMember (example): The nature of the relationship between the patient and the related person being described in the family member history.
Slices for coding	Σ	1..*	Coding	Code defined by a terminology system Slice: Unordered, Open by pattern:$this
coding:snomed	Σ	1..1	Coding	Code defined by a terminology system Binding: MII VS MolGen Family Member SNOMED (extensible) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://snomed.info/sct
version		0..1	string	Version of the system - if relevant
code		0..1	code	Symbol in syntax defined by the system
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
Slices for extension				Content/Rules for all slices
extension:Verwandtschaftsgrad	S	0..1	Coding	Verwandtschaftsgrad URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-verwandtschaftsgrad Binding: MII VS Mol Gen Verwandtschaftsgrad (required)
extension:Verwandtschaftsverhaeltnis	S	0..1	Coding	Verwandtschaftsverhältnis URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-verwandtschaftsverhaeltnis Binding: MII VS MolGen Verwandtschaftsverhaeltnis (extensible)
extension:FamiliareLinie	S	0..1	Coding	Familiäre Linie URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-familiare-linie Binding: MII VS MolGen Familiäre Linie (required)
coding:v3-RoleCode	Σ	0..1	Coding	Code defined by a terminology system Binding: PersonalRelationshipRoleType (extensible) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/v3-RoleCode
version		0..1	string	Version of the system - if relevant
code		0..1	code	Symbol in syntax defined by the system
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
sex	SΣ	0..1	CodeableConcept	Geschlecht Binding: AdministrativeGender (extensible): Codes describing the sex assigned at birth as documented on the birth registration.
born[x]	SC	0..1		(approximate) date of birth
bornPeriod			Period
bornDate			date
bornString			string
age[x]	SΣC	0..1		(approximate) age
ageAge			Age
ageRange			Range
ageString			string
Slices for deceased[x]	SΣ	0..1		Dead? How old/when? Slice: Unordered, Open by type:$this
deceasedBoolean			boolean
deceasedAge			Age
deceasedRange			Range
deceasedDate			date
deceasedString			string
deceased[x]:deceasedBoolean	Σ	0..1	boolean	Dead? How old/when?
deceased[x]:deceasedDate	Σ	0..1	date	Dead? How old/when?
deceased[x]:deceasedAge	Σ	0..1	Age	Dead? How old/when?
reasonCode	SΣ	0..*	CodeableConcept	Grund der Erhebung Binding: SNOMEDCTClinicalFindings (example): Codes indicating why the family member history was done.
Slices for coding	SΣ	1..*	Coding	Kodierung Slice: Unordered, Open by pattern:$this
coding:icd10-gm	SΣ	0..1	Coding	ICD-10-GM Kodierung Binding: MII VS Diagnose ICD-10-GM (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
system	SΣ	1..1	uri	System Fixed Value: http://fhir.de/CodeSystem/bfarm/icd-10-gm
version	SΣ	1..1	string	Version
code	SΣ	1..1	code	Code
coding:alpha-id	SΣ	0..1	Coding	Alpha-ID Kodierung Binding: MII VS Diagnose Alpha-ID (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
version		0..1	string	Version of the system - if relevant
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
system	SΣ	1..1	uri	System Fixed Value: http://fhir.de/CodeSystem/bfarm/alpha-id
code	SΣ	1..1	code	Code
coding:sct	SΣ	0..1	Coding	SNOMED CT Kodierung Binding: MII VS Diagnose Diagnose-Codes SNOMED (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
version		0..1	string	Version of the system - if relevant
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
system	SΣ	1..1	uri	System Fixed Value: http://snomed.info/sct
code	SΣ	1..1	code	Code
coding:orphanet	SΣ	0..1	Coding	Orphanet Kodierung Binding: MII VS Diagnose Orphanet (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
version		0..1	string	Version of the system - if relevant
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
system	SΣ	1..1	uri	System Fixed Value: http://www.orpha.net
code	SΣ	1..1	code	Code
reasonReference	SΣ	0..*	Reference(Condition | Observation | AllergyIntolerance | QuestionnaireResponse | DiagnosticReport | DocumentReference)	Referenz zum Grund
condition	S	0..*	BackboneElement	Erkrankung
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension:penetrance	S	0..1	CodeableConcept	Penetranz der genetischen Variante beim Familienmitglied URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance Binding: MII VS SE Penetrance (extensible)
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	S	1..1	CodeableConcept	Erkrankungscode Binding: Condition/Problem/DiagnosisCodes (example): Identification of the Condition or diagnosis.
Slices for coding	SΣ	1..*	Coding	Kodierung Slice: Unordered, Open by pattern:$this
coding:icd10-gm	SΣ	0..1	CodingICD10GM	ICD-10-GM Kodierung Binding: MII VS Diagnose ICD-10-GM (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
Slices for extension				Content/Rules for all slices
extension:Mehrfachcodierungs-Kennzeichen		0..1	Coding	Optional Extensions Element URL: http://fhir.de/StructureDefinition/icd-10-gm-mehrfachcodierungs-kennzeichen Binding: Mehrfachkodierungs-Kennzeichen ICD10GM ValueSet (required)
extension:Seitenlokalisation		0..1	Coding	Optional Extensions Element URL: http://fhir.de/StructureDefinition/seitenlokalisation Binding: KBV_VS_SFHIR_ICD_SEITENLOKALISATION (required)
extension:Diagnosesicherheit		0..1	Coding	Optional Extensions Element URL: http://fhir.de/StructureDefinition/icd-10-gm-diagnosesicherheit Binding: KBV_VS_SFHIR_ICD_DIAGNOSESICHERHEIT (required)
system	SΣ	1..1	uri	System Fixed Value: http://fhir.de/CodeSystem/bfarm/icd-10-gm
version	SΣ	1..1	string	Version
code	SΣC	1..1	code	Code Constraints: icd-regex Example Einfacher ICD-Code: F17.4
coding:alpha-id	SΣ	0..1	CodingAlphaID	Alpha-ID Kodierung Binding: MII VS Diagnose Alpha-ID (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
system	SΣ	1..1	uri	System Fixed Value: http://fhir.de/CodeSystem/bfarm/alpha-id
version	Σ	1..1	string	Die Jahresversion von Alpha-ID. Angegeben wird immer die vierstellige Jahreszahl (z.B. "2017")
code	SΣ	1..1	code	Code
coding:sct	SΣ	0..1	Coding	SNOMED CT Kodierung Binding: MII VS Diagnose Diagnose-Codes SNOMED (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
version		0..1	string	Version of the system - if relevant
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
system	SΣ	1..1	uri	System Fixed Value: http://snomed.info/sct
code	SΣ	1..1	code	Code
coding:orphanet	SΣ	0..1	Coding	Orphanet Kodierung Binding: MII VS Diagnose Orphanet (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
version		0..1	string	Version of the system - if relevant
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
system	SΣ	1..1	uri	System Fixed Value: http://www.orpha.net
code	SΣ	1..1	code	Code
coding:mondo	SΣ	0..1	Coding	MONDO Code für die Erkrankung Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
version		0..1	string	Version of the system - if relevant
userSelected		0..1	boolean	If this coding was chosen directly by the user
system	Σ	1..1	uri	Identity of the terminology system Fixed Value: http://purl.obolibrary.org/obo/mondo.owl
code	Σ	1..1	code	Symbol in syntax defined by the system
display	SΣ	0..1	string	Representation defined by the system
contributedToDeath	S	0..1	boolean	Tod durch diese Erkrankung
Slices for onset[x]	S	0..1		When condition first manifested Slice: Unordered, Open by type:$this
onsetAge			Age
onsetRange			Range
onsetPeriod			Period
onsetString			string
onset[x]:onsetAge		0..1	Age	When condition first manifested
Documentation for this format

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
FamilyMemberHistory.​status	Base	required	FamilyHistoryStatus	📍4.0.1	FHIR Std.
FamilyMemberHistory.​relationship	Base	example	FamilyMember	📦3.0.0	THO v7.3
FamilyMemberHistory.​relationship.coding:snomed	Base	extensible	MII VS MolGen Family Member SNOMED	📦2027.0.0-ballot.1	MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht v2027.0
FamilyMemberHistory.​relationship.coding:v3-RoleCode	Base	extensible	PersonalRelationshipRoleType	📦3.0.0	THO v7.3
FamilyMemberHistory.​sex	Base	extensible	AdministrativeGender	📍4.0.1	FHIR Std.
FamilyMemberHistory.​reasonCode	Base	example	SNOMED CT Clinical Findings	📍4.0.1	FHIR Std.
FamilyMemberHistory.​reasonCode.coding:icd10-gm	Base	required	MII VS Diagnose ICD-10-GM	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​reasonCode.coding:alpha-id	Base	required	MII VS Diagnose Alpha-ID	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​reasonCode.coding:sct	Base	required	MII VS Diagnose Diagnose-Codes SNOMED	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​reasonCode.coding:orphanet	Base	required	MII VS Diagnose Orphanet	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.code	Base	example	Condition/Problem/Diagnosis Codes	📍4.0.1	FHIR Std.
FamilyMemberHistory.​condition.code.coding:icd10-gm	Base	required	MII VS Diagnose ICD-10-GM	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.code.coding:alpha-id	Base	required	MII VS Diagnose Alpha-ID	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.code.coding:sct	Base	required	MII VS Diagnose Diagnose-Codes SNOMED	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.code.coding:orphanet	Base	required	MII VS Diagnose Orphanet	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0

Constraints

Id	Grade	Path(s)	Description	Expression
dom-2	error	FamilyMemberHistory	If the resource is contained in another resource, it SHALL NOT contain nested Resources	contained.contained.empty()
dom-3	error	FamilyMemberHistory	If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource	contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4	error	FamilyMemberHistory	If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated	contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5	error	FamilyMemberHistory	If a resource is contained in another resource, it SHALL NOT have a security label	contained.meta.security.empty()
dom-6	best practice	FamilyMemberHistory	A resource should have narrative for robust management	text.`div`.exists()
ele-1	error	**ALL** elements	All FHIR elements must have a @value or children	hasValue() or (children().count() > id.count())
ext-1	error	**ALL** extensions	Must have either extensions or value[x], not both	extension.exists() != value.exists()
fhs-1	error	FamilyMemberHistory	Can have age[x] or born[x], but not both	age.empty() or born.empty()
fhs-2	error	FamilyMemberHistory	Can only have estimatedAge if age[x] is present	age.exists() or estimatedAge.empty()
icd-regex	warning	FamilyMemberHistory.condition.code.coding:icd10-gm.code	In code sind nur gültige ICD-10-Codes ohne Zusätze erlaubt	matches('^[A-Z][0-9][A-Z0-9](\\.?[A-Z0-9]{0,4})?$')

Differential View

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
FamilyMemberHistory		0..*	MII_PR_MolGen_Familienanamnese	Information about patient's relatives, relevant for patient
Slices for extension		1..*	Extension	Extension Slice: Unordered, Open by value:url
extension:vonSEBetroffen	S	1..1	CodeableConcept	Gibt an, ob das Familienmitglied von der gleichen seltenen Erkrankung betroffen ist URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-von-se-betroffen Binding: Von SE betroffen Value Set (required)
patient		1..1	Reference(Patient)	Patient
date		0..1	dateTime	Datum
relationship		1..1	CodeableConcept	Verwandtschaftsbeziehung
sex		0..1	CodeableConcept	Geschlecht
born[x]	S	0..1	Period, date, string	(approximate) date of birth
age[x]	S	0..1	Age, Range, string	(approximate) age
Slices for deceased[x]	S	0..1	boolean, Age, Range, date, string	Dead? How old/when? Slice: Unordered, Open by type:$this
deceased[x]:deceasedBoolean		0..1	boolean	Dead? How old/when?
deceased[x]:deceasedDate		0..1	date	Dead? How old/when?
deceased[x]:deceasedAge		0..1	Age	Dead? How old/when?
reasonCode		0..*	CodeableConcept	Grund der Erhebung
condition
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension:penetrance	S	0..1	CodeableConcept	Penetranz der genetischen Variante beim Familienmitglied URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance Binding: MII VS SE Penetrance (extensible)
code
Slices for coding				Content/Rules for all slices
coding:icd10-gm		0..1	CodingICD10GM	ICD-10-GM Kodierung
coding:sct		0..1	Coding	SNOMED CT Kodierung
coding:orphanet		0..1	Coding	Orphanet Kodierung
coding:mondo	S	0..1	Coding	MONDO Code für die Erkrankung Required Pattern: At least the following
system		1..1	uri	Identity of the terminology system Fixed Value: http://purl.obolibrary.org/obo/mondo.owl
code		1..1	code	Symbol in syntax defined by the system
display	S	0..1	string	Representation defined by the system
contributedToDeath	S	0..1	boolean	Tod durch diese Erkrankung
Slices for onset[x]	S	0..1	Age, Range, Period, string	When condition first manifested Slice: Unordered, Open by type:$this
onset[x]:onsetAge		0..1	Age	When condition first manifested
Documentation for this format

Snapshot ViewView

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
FamilyMemberHistory	C	0..*	MII_PR_MolGen_Familienanamnese	Information about patient's relatives, relevant for patient Constraints: fhs-1, fhs-2
id	Σ	0..1	id	Logical id of this artifact
meta	Σ	0..1	Meta	Metadata about the resource
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
text		0..1	Narrative	Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements
contained		0..*	Resource	Contained, inline Resources
Slices for extension		1..*	Extension	Extension Slice: Unordered, Open by value:url
extension:vonSEBetroffen	S	1..1	CodeableConcept	Gibt an, ob das Familienmitglied von der gleichen seltenen Erkrankung betroffen ist URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-von-se-betroffen Binding: Von SE betroffen Value Set (required)
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
identifier	Σ	0..*	Identifier	External Id(s) for this record
instantiatesCanonical	Σ	0..*	canonical(PlanDefinition | Questionnaire | ActivityDefinition | Measure | OperationDefinition)	Instantiates FHIR protocol or definition
instantiatesUri	Σ	0..*	uri	Instantiates external protocol or definition
status	?!SΣ	1..1	code	Status Binding: FamilyHistoryStatus (required): A code that identifies the status of the family history record.
dataAbsentReason	Σ	0..1	CodeableConcept	subject-unknown | withheld | unable-to-obtain | deferred Binding: FamilyHistoryAbsentReason (example): Codes describing the reason why a family member's history is not available.
patient	SΣ	1..1	Reference(Patient)	Patient
date	SΣ	0..1	dateTime	Datum
name	Σ	0..1	string	The family member described
relationship	SΣ	1..1	CodeableConcept	Verwandtschaftsbeziehung Binding: FamilyMember (example): The nature of the relationship between the patient and the related person being described in the family member history.
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
Slices for coding	Σ	1..*	Coding	Code defined by a terminology system Slice: Unordered, Open by pattern:$this
coding:snomed	Σ	1..1	Coding	Code defined by a terminology system Binding: MII VS MolGen Family Member SNOMED (extensible) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
Slices for extension				Content/Rules for all slices
extension:Verwandtschaftsgrad	S	0..1	Coding	Verwandtschaftsgrad URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-verwandtschaftsgrad Binding: MII VS Mol Gen Verwandtschaftsgrad (required)
extension:Verwandtschaftsverhaeltnis	S	0..1	Coding	Verwandtschaftsverhältnis URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-verwandtschaftsverhaeltnis Binding: MII VS MolGen Verwandtschaftsverhaeltnis (extensible)
extension:FamiliareLinie	S	0..1	Coding	Familiäre Linie URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-familiare-linie Binding: MII VS MolGen Familiäre Linie (required)
system	Σ	0..1	uri	Identity of the terminology system Fixed Value: http://snomed.info/sct
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
coding:v3-RoleCode	Σ	0..1	Coding	Code defined by a terminology system Binding: PersonalRelationshipRoleType (extensible) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/v3-RoleCode
version		0..1	string	Version of the system - if relevant
code		0..1	code	Symbol in syntax defined by the system
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
sex	SΣ	0..1	CodeableConcept	Geschlecht Binding: AdministrativeGender (extensible): Codes describing the sex assigned at birth as documented on the birth registration.
born[x]	SC	0..1		(approximate) date of birth
bornPeriod			Period
bornDate			date
bornString			string
age[x]	SΣC	0..1		(approximate) age
ageAge			Age
ageRange			Range
ageString			string
estimatedAge	ΣC	0..1	boolean	Age is estimated?
Slices for deceased[x]	SΣ	0..1		Dead? How old/when? Slice: Unordered, Open by type:$this
deceasedBoolean			boolean
deceasedAge			Age
deceasedRange			Range
deceasedDate			date
deceasedString			string
deceased[x]:deceasedBoolean	Σ	0..1	boolean	Dead? How old/when?
deceased[x]:deceasedDate	Σ	0..1	date	Dead? How old/when?
deceased[x]:deceasedAge	Σ	0..1	Age	Dead? How old/when?
reasonCode	SΣ	0..*	CodeableConcept	Grund der Erhebung Binding: SNOMEDCTClinicalFindings (example): Codes indicating why the family member history was done.
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
Slices for coding	SΣ	1..*	Coding	Kodierung Slice: Unordered, Open by pattern:$this
coding:icd10-gm	SΣ	0..1	Coding	ICD-10-GM Kodierung Binding: MII VS Diagnose ICD-10-GM (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	SΣ	1..1	uri	System Fixed Value: http://fhir.de/CodeSystem/bfarm/icd-10-gm
version	SΣ	1..1	string	Version
code	SΣ	1..1	code	Code
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
coding:alpha-id	SΣ	0..1	Coding	Alpha-ID Kodierung Binding: MII VS Diagnose Alpha-ID (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	SΣ	1..1	uri	System Fixed Value: http://fhir.de/CodeSystem/bfarm/alpha-id
version	Σ	0..1	string	Version of the system - if relevant
code	SΣ	1..1	code	Code
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
coding:sct	SΣ	0..1	Coding	SNOMED CT Kodierung Binding: MII VS Diagnose Diagnose-Codes SNOMED (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	SΣ	1..1	uri	System Fixed Value: http://snomed.info/sct
version	Σ	0..1	string	Version of the system - if relevant
code	SΣ	1..1	code	Code
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
coding:orphanet	SΣ	0..1	Coding	Orphanet Kodierung Binding: MII VS Diagnose Orphanet (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	SΣ	1..1	uri	System Fixed Value: http://www.orpha.net
version	Σ	0..1	string	Version of the system - if relevant
code	SΣ	1..1	code	Code
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
reasonReference	SΣ	0..*	Reference(Condition | Observation | AllergyIntolerance | QuestionnaireResponse | DiagnosticReport | DocumentReference)	Referenz zum Grund
note		0..*	Annotation	General note about related person
condition	S	0..*	BackboneElement	Erkrankung
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension:penetrance	S	0..1	CodeableConcept	Penetranz der genetischen Variante beim Familienmitglied URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance Binding: MII VS SE Penetrance (extensible)
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	S	1..1	CodeableConcept	Erkrankungscode Binding: Condition/Problem/DiagnosisCodes (example): Identification of the Condition or diagnosis.
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
Slices for coding	SΣ	1..*	Coding	Kodierung Slice: Unordered, Open by pattern:$this
coding:icd10-gm	SΣ	0..1	CodingICD10GM	ICD-10-GM Kodierung Binding: MII VS Diagnose ICD-10-GM (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
Slices for extension				Content/Rules for all slices
extension:Mehrfachcodierungs-Kennzeichen		0..1	Coding	Optional Extensions Element URL: http://fhir.de/StructureDefinition/icd-10-gm-mehrfachcodierungs-kennzeichen Binding: Mehrfachkodierungs-Kennzeichen ICD10GM ValueSet (required)
extension:Seitenlokalisation		0..1	Coding	Optional Extensions Element URL: http://fhir.de/StructureDefinition/seitenlokalisation Binding: KBV_VS_SFHIR_ICD_SEITENLOKALISATION (required)
extension:Diagnosesicherheit		0..1	Coding	Optional Extensions Element URL: http://fhir.de/StructureDefinition/icd-10-gm-diagnosesicherheit Binding: KBV_VS_SFHIR_ICD_DIAGNOSESICHERHEIT (required)
system	SΣ	1..1	uri	System Fixed Value: http://fhir.de/CodeSystem/bfarm/icd-10-gm
version	SΣ	1..1	string	Version
code	SΣC	1..1	code	Code Constraints: icd-regex Example Einfacher ICD-Code: F17.4
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
coding:alpha-id	SΣ	0..1	CodingAlphaID	Alpha-ID Kodierung Binding: MII VS Diagnose Alpha-ID (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	SΣ	1..1	uri	System Fixed Value: http://fhir.de/CodeSystem/bfarm/alpha-id
version	Σ	1..1	string	Die Jahresversion von Alpha-ID. Angegeben wird immer die vierstellige Jahreszahl (z.B. "2017")
code	SΣ	1..1	code	Code
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
coding:sct	SΣ	0..1	Coding	SNOMED CT Kodierung Binding: MII VS Diagnose Diagnose-Codes SNOMED (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	SΣ	1..1	uri	System Fixed Value: http://snomed.info/sct
version	Σ	0..1	string	Version of the system - if relevant
code	SΣ	1..1	code	Code
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
coding:orphanet	SΣ	0..1	Coding	Orphanet Kodierung Binding: MII VS Diagnose Orphanet (required) Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	SΣ	1..1	uri	System Fixed Value: http://www.orpha.net
version	Σ	0..1	string	Version of the system - if relevant
code	SΣ	1..1	code	Code
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
coding:mondo	SΣ	0..1	Coding	MONDO Code für die Erkrankung Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	1..1	uri	Identity of the terminology system Fixed Value: http://purl.obolibrary.org/obo/mondo.owl
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	1..1	code	Symbol in syntax defined by the system
display	SΣ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
outcome		0..1	CodeableConcept	deceased | permanent disability | etc. Binding: ConditionOutcomeCodes (example): The result of the condition for the patient; e.g. death, permanent disability, temporary disability, etc.
contributedToDeath	S	0..1	boolean	Tod durch diese Erkrankung
Slices for onset[x]	S	0..1		When condition first manifested Slice: Unordered, Open by type:$this
onsetAge			Age
onsetRange			Range
onsetPeriod			Period
onsetString			string
onset[x]:onsetAge		0..1	Age	When condition first manifested
note		0..*	Annotation	Extra information about condition
Documentation for this format

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
FamilyMemberHistory.​language	Base	preferred	Common Languages	📍4.0.1	FHIR Std.
FamilyMemberHistory.​status	Base	required	FamilyHistoryStatus	📍4.0.1	FHIR Std.
FamilyMemberHistory.​dataAbsentReason	Base	example	FamilyHistoryAbsentReason	📍4.0.1	FHIR Std.
FamilyMemberHistory.​relationship	Base	example	FamilyMember	📦3.0.0	THO v7.3
FamilyMemberHistory.​relationship.coding:snomed	Base	extensible	MII VS MolGen Family Member SNOMED	📦2027.0.0-ballot.1	MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht v2027.0
FamilyMemberHistory.​relationship.coding:v3-RoleCode	Base	extensible	PersonalRelationshipRoleType	📦3.0.0	THO v7.3
FamilyMemberHistory.​sex	Base	extensible	AdministrativeGender	📍4.0.1	FHIR Std.
FamilyMemberHistory.​reasonCode	Base	example	SNOMED CT Clinical Findings	📍4.0.1	FHIR Std.
FamilyMemberHistory.​reasonCode.coding:icd10-gm	Base	required	MII VS Diagnose ICD-10-GM	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​reasonCode.coding:alpha-id	Base	required	MII VS Diagnose Alpha-ID	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​reasonCode.coding:sct	Base	required	MII VS Diagnose Diagnose-Codes SNOMED	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​reasonCode.coding:orphanet	Base	required	MII VS Diagnose Orphanet	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.code	Base	example	Condition/Problem/Diagnosis Codes	📍4.0.1	FHIR Std.
FamilyMemberHistory.​condition.code.coding:icd10-gm	Base	required	MII VS Diagnose ICD-10-GM	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.code.coding:alpha-id	Base	required	MII VS Diagnose Alpha-ID	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.code.coding:sct	Base	required	MII VS Diagnose Diagnose-Codes SNOMED	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.code.coding:orphanet	Base	required	MII VS Diagnose Orphanet	📦2027.0.0-ballot	MII Implementation Guide Core Dataset Base v2027.0
FamilyMemberHistory.​condition.outcome	Base	example	Condition Outcome Codes	📍4.0.1	FHIR Std.

Constraints

Id	Grade	Path(s)	Description	Expression
dom-2	error	FamilyMemberHistory	If the resource is contained in another resource, it SHALL NOT contain nested Resources	contained.contained.empty()
dom-3	error	FamilyMemberHistory	If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource	contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4	error	FamilyMemberHistory	If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated	contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5	error	FamilyMemberHistory	If a resource is contained in another resource, it SHALL NOT have a security label	contained.meta.security.empty()
dom-6	best practice	FamilyMemberHistory	A resource should have narrative for robust management	text.`div`.exists()
ele-1	error	**ALL** elements	All FHIR elements must have a @value or children	hasValue() or (children().count() > id.count())
ext-1	error	**ALL** extensions	Must have either extensions or value[x], not both	extension.exists() != value.exists()
fhs-1	error	FamilyMemberHistory	Can have age[x] or born[x], but not both	age.empty() or born.empty()
fhs-2	error	FamilyMemberHistory	Can only have estimatedAge if age[x] is present	age.exists() or estimatedAge.empty()
icd-regex	warning	FamilyMemberHistory.condition.code.coding:icd10-gm.code	In code sind nur gültige ICD-10-Codes ohne Zusätze erlaubt	matches('^[A-Z][0-9][A-Z0-9](\\.?[A-Z0-9]{0,4})?$')

Summary

Mandatory: 2 elements(2 nested mandatory elements)
Must-Support: 9 elements

Extensions

This structure refers to these extensions:

• https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-von-se-betroffen
• https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance

Slices

This structure defines the following Slices:

• The element 1 is sliced based on the value of FamilyMemberHistory.deceased[x]
• The element 1 is sliced based on the value of FamilyMemberHistory.condition.onset[x]