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Packagede.medizininformatikinitiative.kerndatensatz.seltene
Resource TypeValueSet
IdValueSet-mii-vs-seltene-hpo-inheritance-pattern.json
FHIR VersionR4
Sourcehttps://medizininformatik-initiative.github.io/kerndatensatzmodul-seltene-erkrankungen/2027.0.0-ballot/ValueSet-mii-vs-seltene-hpo-inheritance-pattern.html
URLhttps://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-inheritance-pattern
Version2027.0.0-ballot
Statusactive
Date2026-09-14T21:59:44+00:00
NameMII_VS_Seltene_HPOInheritancePattern
TitleMII VS SE HPO Inheritance Pattern
Realmde
DescriptionValue set containing HPO terms for modes of inheritance

Resources that use this resource

No resources found


Resources that this resource uses

CodeSystem
hl7.terminology.r4b#6.0.2human-phenotype-ontology.orgHuman Phenotype Ontology

Narrative

Note: links and images are rebased to the (stated) source


English


Generated Narrative: ValueSet mii-vs-seltene-hpo-inheritance-pattern

This value set includes codes based on the following rules:

  • Include codes fromhttp://human-phenotype-ontology.org version Not Stated (use latest from terminology server) where concept is-a HP:0000005 (Mode of inheritance)
  • Include these codes as defined in http://human-phenotype-ontology.org version Not Stated (use latest from terminology server)
    CodeDisplay
    HP:0000006Autosomal dominant inheritance
    HP:0000007Autosomal recessive inheritance
    HP:0001417X-linked inheritance
    HP:0001419X-linked recessive inheritance
    HP:0001423X-linked dominant inheritance
    HP:0001427Mitochondrial inheritance
    HP:0001428Typified by somatic mosaicism
    HP:0003745Sporadic
    HP:0010983Oligogenic inheritance
    HP:0010982Polygenic inheritance
    HP:0001426Non-Mendelian inheritance
    HP:0012275Autosomal dominant inheritance with maternal imprinting
    HP:0012274Autosomal dominant inheritance with paternal imprinting

German


Generated Narrative: ValueSet mii-vs-seltene-hpo-inheritance-pattern

This value set includes codes based on the following rules:

  • Include codes fromhttp://human-phenotype-ontology.org version Not Stated (use latest from terminology server) where concept is-a HP:0000005 (Mode of inheritance)
  • Include these codes as defined in http://human-phenotype-ontology.org version Not Stated (use latest from terminology server)
    CodeDisplay
    HP:0000006Autosomal dominant inheritance
    HP:0000007Autosomal recessive inheritance
    HP:0001417X-linked inheritance
    HP:0001419X-linked recessive inheritance
    HP:0001423X-linked dominant inheritance
    HP:0001427Mitochondrial inheritance
    HP:0001428Typified by somatic mosaicism
    HP:0003745Sporadic
    HP:0010983Oligogenic inheritance
    HP:0010982Polygenic inheritance
    HP:0001426Non-Mendelian inheritance
    HP:0012275Autosomal dominant inheritance with maternal imprinting
    HP:0012274Autosomal dominant inheritance with paternal imprinting

Source1

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  "resourceType": "ValueSet",
  "id": "mii-vs-seltene-hpo-inheritance-pattern",
  "meta": {
    "profile": [
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      "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-publishablevalueset"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
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  "extension": [
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      "url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
      "valueCode": "shareable"
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      "valueCode": "publishable"
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      "valueCodeableConcept": {
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            "code": "package",
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    },
    {
      "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"
          }
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    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-author",
      "valueContactDetail": {
        "telecom": [
          {
            "system": "email",
            "value": "thomas.debertshaeuser@charite.de"
          }
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      }
    },
    {
      "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": [
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            "system": "url",
            "value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"
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    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
      "valueContactDetail": {
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            "value": "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"
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    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
      "valueContactDetail": {
        "name": "National Steering Committee",
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  ],
  "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"
      }
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  },
  "contact": [
    {
      "name": "Medizininformatik Initiative",
      "telecom": [
        {
          "system": "url",
          "value": "https://www.medizininformatik-initiative.de/"
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      ]
    }
  ],
  "description": "Value set containing HPO terms for modes of inheritance",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "urn:iso:std:iso:3166",
          "code": "DE",
          "display": "Germany"
        }
      ]
    }
  ],
  "compose": {
    "include": [
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        "system": "http://human-phenotype-ontology.org",
        "filter": [
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            "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"
          }
        ]
      }
    ]
  }
}