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
| Offizielle URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-genetic-basis | Version: 2027.0.0-ballot | |||
| Retired Stand: 2026-09-14 | Maschinenlesbarer Name: MII_VS_Seltene_GeneticBasis | |||
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.
References
This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)
Profiles: CRMI Shareable ValueSet, CRMI Publishable ValueSet
http://snomed.info/sct version Not Stated (use latest from terminology server)| Code | Display |
| 409709004 | Chromosomal disorder |
| 264530000 | Single gene disorder |
| 16402000 | Mitochondrial disorder |
| 268298002 | Polygenic disorder |
| 429962007 | Disorder due to copy number variation |
| 718211000119104 | Disorder due to trinucleotide repeat expansion |
| 416010008 | Disorder due to uniparental disomy |
| 429252008 | Disorder due to genomic imprinting |
| 363235000 | Multifactorial disorder |
Expansions are not generated for retired value sets