MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
This page is part of the MII Implementation Guide Seltene Erkrankungen (v2027.0.0-ballot: 2027 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions
| Official URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance | Version: 2027.0.0-ballot | |||
| Active as of 2026-09-14 | Computable Name: MII_EX_Seltene_Penetrance | |||
Extension to capture the penetrance of genetic variants associated with a rare disease
Context of Use
This extension may be used on the following element(s)
Condition
FamilyMemberHistory.condition
Usage info
Usages:
You can also check for usages in the FHIR IG Statistics
Description of Profiles, Differentials, Snapshots, and their representations.
| Name | Flags | Card. | Type | Description & Constraints Filter:   |
|---|---|---|---|---|
  Extension |
0..* | Extension | MII EX SE Penetrance | |
  extension |
0..0 | Extension | ||
| url |
1..1 | uri | "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance" | |
  Slices for value[x] |
0..1 | Value of extension Slice: Unordered, Open by type:$this | ||
   valueCodeableConcept |
CodeableConcept | |||
| valueQuantity |
Quantity | |||
 value[x]:valueCodeableConcept |
0..1 | CodeableConcept | Qualitative penetrance description Binding: MII VS SE Penetrance (extensible) | |
 value[x]:valueQuantity |
0..1 | Quantity | Quantitative penetrance percentage | |
 unit |
0..1 | string | Unit representation Required Pattern: % | |
| system |
0..1 | uri | System that defines coded unit form Required Pattern: http://unitsofmeasure.org | |
 code |
0..1 | code | Coded form of the unit Required Pattern: % | |
| Documentation for this format | ||||
| Path | Status | Usage | ValueSet | Version | Source |
| Extension.value[x]:valueCodeableConcept | Base | extensible | MII VS SE Penetrance | 📦2027.0.0-ballot | This IG |
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
 Extension |
0..* | Extension | MII EX SE Penetrance | |
 id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..0 | Extension Slice: Unordered, Open by value:url | ||
| url |
1..1 | uri | "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance" | |
| Slices for value[x] |
0..1 | Value of extension Slice: Unordered, Closed by type:$this | ||
| valueCodeableConcept |
CodeableConcept | |||
| valueQuantity |
Quantity | |||
| value[x]:valueCodeableConcept |
0..1 | CodeableConcept | Qualitative penetrance description Binding: MII VS SE Penetrance (extensible) | |
| value[x]:valueQuantity |
0..1 | Quantity | Quantitative penetrance percentage | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| value |
Σ | 0..1 | decimal | Numerical value (with implicit precision) |
| comparator |
?!Σ | 0..1 | code | < | <= | >= | > - how to understand the value Binding: QuantityComparator (required): How the Quantity should be understood and represented. |
| unit |
Σ | 0..1 | string | Unit representation Required Pattern: % |
| system |
ΣC | 0..1 | uri | System that defines coded unit form Required Pattern: http://unitsofmeasure.org |
| code |
Σ | 0..1 | code | Coded form of the unit Required Pattern: % |
| Documentation for this format | ||||
| Path | Status | Usage | ValueSet | Version | Source |
| Extension.value[x]:valueCodeableConcept | Base | extensible | MII VS SE Penetrance | 📦2027.0.0-ballot | This IG |
| Extension.value[x]:valueQuantity.comparator | Base | required | QuantityComparator | 📍4.0.1 | FHIR Std. |
| Id | Grade | Path(s) | Description | Expression |
| 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()
|
Differential ViewDifferential View
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| Extension |
0..* | Extension | MII EX SE Penetrance | |
| extension |
0..0 | Extension | ||
| url |
1..1 | uri | "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance" | |
| Slices for value[x] |
0..1 | Value of extension Slice: Unordered, Open by type:$this | ||
| valueCodeableConcept |
CodeableConcept | |||
| valueQuantity |
Quantity | |||
| value[x]:valueCodeableConcept |
0..1 | CodeableConcept | Qualitative penetrance description Binding: MII VS SE Penetrance (extensible) | |
| value[x]:valueQuantity |
0..1 | Quantity | Quantitative penetrance percentage | |
| unit |
0..1 | string | Unit representation Required Pattern: % | |
| system |
0..1 | uri | System that defines coded unit form Required Pattern: http://unitsofmeasure.org | |
| code |
0..1 | code | Coded form of the unit Required Pattern: % | |
| Documentation for this format | ||||
| Path | Status | Usage | ValueSet | Version | Source |
| Extension.value[x]:valueCodeableConcept | Base | extensible | MII VS SE Penetrance | 📦2027.0.0-ballot | This IG |
Snapshot View
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| Extension |
0..* | Extension | MII EX SE Penetrance | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..0 | Extension Slice: Unordered, Open by value:url | ||
| url |
1..1 | uri | "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance" | |
| Slices for value[x] |
0..1 | Value of extension Slice: Unordered, Closed by type:$this | ||
| valueCodeableConcept |
CodeableConcept | |||
| valueQuantity |
Quantity | |||
| value[x]:valueCodeableConcept |
0..1 | CodeableConcept | Qualitative penetrance description Binding: MII VS SE Penetrance (extensible) | |
| value[x]:valueQuantity |
0..1 | Quantity | Quantitative penetrance percentage | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| value |
Σ | 0..1 | decimal | Numerical value (with implicit precision) |
| comparator |
?!Σ | 0..1 | code | < | <= | >= | > - how to understand the value Binding: QuantityComparator (required): How the Quantity should be understood and represented. |
| unit |
Σ | 0..1 | string | Unit representation Required Pattern: % |
| system |
ΣC | 0..1 | uri | System that defines coded unit form Required Pattern: http://unitsofmeasure.org |
| code |
Σ | 0..1 | code | Coded form of the unit Required Pattern: % |
| Documentation for this format | ||||
| Path | Status | Usage | ValueSet | Version | Source |
| Extension.value[x]:valueCodeableConcept | Base | extensible | MII VS SE Penetrance | 📦2027.0.0-ballot | This IG |
| Extension.value[x]:valueQuantity.comparator | Base | required | QuantityComparator | 📍4.0.1 | FHIR Std. |
| Id | Grade | Path(s) | Description | Expression |
| 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()
|
Other representations of profile: CSV, Excel, Schematron