FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.seltene |
| Resource Type | ValueSet |
| Id | ValueSet-mii-vs-seltene-hpo-inheritance-pattern.json |
| FHIR Version | R4 |
| Source | https://medizininformatik-initiative.github.io/kerndatensatzmodul-seltene-erkrankungen/2027.0.0-ballot/ValueSet-mii-vs-seltene-hpo-inheritance-pattern.html |
| URL | https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-inheritance-pattern |
| Version | 2027.0.0-ballot |
| Status | active |
| Date | 2026-09-14T21:59:44+00:00 |
| Name | MII_VS_Seltene_HPOInheritancePattern |
| Title | MII VS SE HPO Inheritance Pattern |
| Realm | de |
| Description | Value set containing HPO terms for modes of inheritance |
No resources found
| CodeSystem | ||
| hl7.terminology.r4b#6.0.2 | human-phenotype-ontology.org | Human Phenotype Ontology |
Note: links and images are rebased to the (stated) source
English
Generated Narrative: ValueSet mii-vs-seltene-hpo-inheritance-pattern
Profiles: CRMI Shareable ValueSet, CRMI Publishable ValueSet
This value set includes codes based on the following rules:
http://human-phenotype-ontology.org version Not Stated (use latest from terminology server) where concept is-a HP:0000005 (Mode of inheritance)http://human-phenotype-ontology.org version Not Stated (use latest from terminology server)| Code | Display |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001417 | X-linked inheritance |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001423 | X-linked dominant inheritance |
| HP:0001427 | Mitochondrial inheritance |
| HP:0001428 | Typified by somatic mosaicism |
| HP:0003745 | Sporadic |
| HP:0010983 | Oligogenic inheritance |
| HP:0010982 | Polygenic inheritance |
| HP:0001426 | Non-Mendelian inheritance |
| HP:0012275 | Autosomal dominant inheritance with maternal imprinting |
| HP:0012274 | Autosomal dominant inheritance with paternal imprinting |
German
Generated Narrative: ValueSet mii-vs-seltene-hpo-inheritance-pattern
Profiles: CRMI Shareable ValueSet, CRMI Publishable ValueSet
This value set includes codes based on the following rules:
http://human-phenotype-ontology.org version Not Stated (use latest from terminology server) where concept is-a HP:0000005 (Mode of inheritance)http://human-phenotype-ontology.org version Not Stated (use latest from terminology server)| Code | Display |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001417 | X-linked inheritance |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001423 | X-linked dominant inheritance |
| HP:0001427 | Mitochondrial inheritance |
| HP:0001428 | Typified by somatic mosaicism |
| HP:0003745 | Sporadic |
| HP:0010983 | Oligogenic inheritance |
| HP:0010982 | Polygenic inheritance |
| HP:0001426 | Non-Mendelian inheritance |
| HP:0012275 | Autosomal dominant inheritance with maternal imprinting |
| HP:0012274 | Autosomal dominant inheritance with paternal imprinting |
{
"resourceType": "ValueSet",
"id": "mii-vs-seltene-hpo-inheritance-pattern",
"meta": {
"profile": [
"http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-shareablevalueset",
"http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-publishablevalueset"
]
},
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
"valueCode": "shareable"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
"valueCode": "publishable"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
"valueCode": "computable"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-versionPolicy",
"valueCodeableConcept": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/artifact-version-policy-codes",
"code": "package",
"display": "Package"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/resource-approvalDate",
"valueDate": "2026-09-02"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-topic",
"valueCodeableConcept": {
"coding": [
{
"system": "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl",
"code": "C4873"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-author",
"valueContactDetail": {
"telecom": [
{
"system": "email",
"value": "thomas.debertshaeuser@charite.de"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-editor",
"valueContactDetail": {
"name": "Taskforce Core Data Set"
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-reviewer",
"valueContactDetail": {
"name": "Interoperability Working Group",
"telecom": [
{
"system": "url",
"value": "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-reviewer",
"valueContactDetail": {
"name": "National Steering Committee",
"telecom": [
{
"system": "url",
"value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
"valueContactDetail": {
"name": "Interoperability Working Group",
"telecom": [
{
"system": "url",
"value": "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
"valueContactDetail": {
"name": "National Steering Committee",
"telecom": [
{
"system": "url",
"value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"
}
]
}
}
],
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-inheritance-pattern",
"version": "2027.0.0-ballot",
"name": "MII_VS_Seltene_HPOInheritancePattern",
"title": "MII VS SE HPO Inheritance Pattern",
"status": "active",
"experimental": false,
"date": "2026-09-14T21:59:44+00:00",
"publisher": "Medizininformatik Initiative",
"_publisher": {
"extension": [
{
"extension": [
{
"url": "lang",
"valueCode": "de"
},
{
"url": "content",
"valueString": "Medizininformatik Initiative"
}
],
"url": "http://hl7.org/fhir/StructureDefinition/translation"
}
]
},
"contact": [
{
"name": "Medizininformatik Initiative",
"telecom": [
{
"system": "url",
"value": "https://www.medizininformatik-initiative.de/"
}
]
}
],
"description": "Value set containing HPO terms for modes of inheritance",
"jurisdiction": [
{
"coding": [
{
"system": "urn:iso:std:iso:3166",
"code": "DE",
"display": "Germany"
}
]
}
],
"compose": {
"include": [
{
"system": "http://human-phenotype-ontology.org",
"filter": [
{
"property": "concept",
"op": "is-a",
"value": "HP:0000005"
}
]
},
{
"system": "http://human-phenotype-ontology.org",
"concept": [
{
"code": "HP:0000006",
"display": "Autosomal dominant inheritance"
},
{
"code": "HP:0000007",
"display": "Autosomal recessive inheritance"
},
{
"code": "HP:0001417",
"display": "X-linked inheritance"
},
{
"code": "HP:0001419",
"display": "X-linked recessive inheritance"
},
{
"code": "HP:0001423",
"display": "X-linked dominant inheritance"
},
{
"code": "HP:0001427",
"display": "Mitochondrial inheritance"
},
{
"code": "HP:0001428",
"display": "Typified by somatic mosaicism"
},
{
"code": "HP:0003745",
"display": "Sporadic"
},
{
"code": "HP:0010983",
"display": "Oligogenic inheritance"
},
{
"code": "HP:0010982",
"display": "Polygenic inheritance"
},
{
"code": "HP:0001426",
"display": "Non-Mendelian inheritance"
},
{
"code": "HP:0012275",
"display": "Autosomal dominant inheritance with maternal imprinting"
},
{
"code": "HP:0012274",
"display": "Autosomal dominant inheritance with paternal imprinting"
}
]
}
]
}
}