MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
MII IG Kerndatensatz-Modul Seltene Erkrankungen - Downloaded Version 2027.0.0-ballot See the Directory of published versions
| Retired as of 2026-09-14 |
<ValueSet xmlns="http://hl7.org/fhir">
<id value="mii-vs-seltene-genetic-basis"/>
<meta>
<profile
value="http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-shareablevalueset"/>
<profile
value="http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-publishablevalueset"/>
</meta>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><p class="res-header-id"><b>Generated Narrative: ValueSet mii-vs-seltene-genetic-basis</b></p><a name="mii-vs-seltene-genetic-basis"> </a><a name="hcmii-vs-seltene-genetic-basis"> </a><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px"/><p style="margin-bottom: 0px">Profiles: <a href="http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-crmi-shareablevalueset.html">CRMI Shareable ValueSet</a>, <a href="http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-crmi-publishablevalueset.html">CRMI Publishable ValueSet</a></p></div><ul><li>Include these codes as defined in <a href="http://www.snomed.org/"><code>http://snomed.info/sct</code></a><span title="Version is not explicitly stated. No matching Code System found"> version Not Stated (use latest from terminology server)</span><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href="http://snomed.info/id/409709004">409709004</a></td><td>Chromosomal disorder</td></tr><tr><td><a href="http://snomed.info/id/264530000">264530000</a></td><td>Single gene disorder</td></tr><tr><td><a href="http://snomed.info/id/16402000">16402000</a></td><td>Mitochondrial disorder</td></tr><tr><td><a href="http://snomed.info/id/268298002">268298002</a></td><td>Polygenic disorder</td></tr><tr><td><a href="http://snomed.info/id/429962007">429962007</a></td><td>Disorder due to copy number variation</td></tr><tr><td><a href="http://snomed.info/id/718211000119104">718211000119104</a></td><td>Disorder due to trinucleotide repeat expansion</td></tr><tr><td><a href="http://snomed.info/id/416010008">416010008</a></td><td>Disorder due to uniparental disomy</td></tr><tr><td><a href="http://snomed.info/id/429252008">429252008</a></td><td>Disorder due to genomic imprinting</td></tr><tr><td><a href="http://snomed.info/id/363235000">363235000</a></td><td>Multifactorial disorder</td></tr></table></li></ul></div>
</text>
<extension
url="http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability">
<valueCode value="shareable"/>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability">
<valueCode value="publishable"/>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability">
<valueCode value="computable"/>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/artifact-versionPolicy">
<valueCodeableConcept>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/artifact-version-policy-codes"/>
<code value="package"/>
<display value="Package"/>
</coding>
</valueCodeableConcept>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/resource-approvalDate">
<valueDate value="2026-09-02"/>
</extension>
<extension url="http://hl7.org/fhir/StructureDefinition/artifact-topic">
<valueCodeableConcept>
<coding>
<system value="http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl"/>
<code value="C4873"/>
</coding>
</valueCodeableConcept>
</extension>
<extension url="http://hl7.org/fhir/StructureDefinition/artifact-author">
<valueContactDetail>
<telecom>
<system value="email"/>
<value value="thomas.debertshaeuser@charite.de"/>
</telecom>
</valueContactDetail>
</extension>
<extension url="http://hl7.org/fhir/StructureDefinition/artifact-editor">
<valueContactDetail>
<name value="Taskforce Core Data Set"/>
</valueContactDetail>
</extension>
<extension url="http://hl7.org/fhir/StructureDefinition/artifact-reviewer">
<valueContactDetail>
<name value="Interoperability Working Group"/>
<telecom>
<system value="url"/>
<value
value="https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"/>
</telecom>
</valueContactDetail>
</extension>
<extension url="http://hl7.org/fhir/StructureDefinition/artifact-reviewer">
<valueContactDetail>
<name value="National Steering Committee"/>
<telecom>
<system value="url"/>
<value
value="https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"/>
</telecom>
</valueContactDetail>
</extension>
<extension url="http://hl7.org/fhir/StructureDefinition/artifact-endorser">
<valueContactDetail>
<name value="Interoperability Working Group"/>
<telecom>
<system value="url"/>
<value
value="https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"/>
</telecom>
</valueContactDetail>
</extension>
<extension url="http://hl7.org/fhir/StructureDefinition/artifact-endorser">
<valueContactDetail>
<name value="National Steering Committee"/>
<telecom>
<system value="url"/>
<value
value="https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"/>
</telecom>
</valueContactDetail>
</extension>
<url
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-genetic-basis"/>
<version value="2027.0.0-ballot"/>
<name value="MII_VS_Seltene_GeneticBasis"/>
<title value="MII VS SE Genetic Basis (retired)"/>
<status value="retired"/>
<experimental value="false"/>
<date value="2026-09-14T22:11:28+00:00"/>
<publisher value="Medizininformatik Initiative"/>
<contact>
<name value="Medizininformatik Initiative"/>
<telecom>
<system value="url"/>
<value value="https://www.medizininformatik-initiative.de/"/>
</telecom>
</contact>
<description
value="RETIRED. Nicht verwenden. Acht der neun enthaltenen SNOMED-Codes bezeichnen etwas anderes als ihr Display behauptet oder existieren nicht; das ValueSet muss neu erstellt werden."/>
<jurisdiction>
<coding>
<system value="urn:iso:std:iso:3166"/>
<code value="DE"/>
<display value="Germany"/>
</coding>
</jurisdiction>
<compose>
<include>
<system value="http://snomed.info/sct"/>
<concept>
<code value="409709004"/>
<display value="Chromosomal disorder"/>
</concept>
<concept>
<code value="264530000"/>
<display value="Single gene disorder"/>
</concept>
<concept>
<code value="16402000"/>
<display value="Mitochondrial disorder"/>
</concept>
<concept>
<code value="268298002"/>
<display value="Polygenic disorder"/>
</concept>
<concept>
<code value="429962007"/>
<display value="Disorder due to copy number variation"/>
</concept>
<concept>
<code value="718211000119104"/>
<display value="Disorder due to trinucleotide repeat expansion"/>
</concept>
<concept>
<code value="416010008"/>
<display value="Disorder due to uniparental disomy"/>
</concept>
<concept>
<code value="429252008"/>
<display value="Disorder due to genomic imprinting"/>
</concept>
<concept>
<code value="363235000"/>
<display value="Multifactorial disorder"/>
</concept>
</include>
</compose>
</ValueSet>