MII IG Kerndatensatz-Modul Onkologie
2027.0.0-ballot.1 -
Germany
MII IG Kerndatensatz-Modul Onkologie
2027.0.0-ballot.1 -
Germany
This page is part of the MII IG Kerndatensatz-Modul Onkologie (v2027.0.0-ballot.1: Release) 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-onko/ValueSet/mii-vs-onko-praedispositionssyndrome-orpha | Version: 2027.0.0-ballot.1 | |||
| Active Stand: 2026-09-15 | Maschinenlesbarer Name: MII_VS_Onko_Praedispositionssyndrome_ORPHA | |||
Krebsprädispositionssyndrome der §65c-Liste (Manual Plus, Krebsprädispositionssyndrom und -gen) als Orphanet-Codes. Begleitartefakt ohne Profil-Binding (Andockung an die genetischen Profile folgt mit dem Konzept für genetische Marker); 15 genspezifische Prädispositionen der Quell-Liste haben kein Orphanet-Konzept und sind über das Gen-ValueSet mii-vs-onko-praedispositionsgene-hgnc adressierbar. Projektseitige Code-Auflösung ohne Gewähr; fachliche Prüfung vor Produktivnutzung erforderlich.
References
This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)
Profiles: Shareable ValueSet, CRMI Shareable ValueSet, CRMI Publishable ValueSet, CRMI Computable ValueSet
http://www.orpha.net version Not Stated (use latest from terminology server)| Code | Display |
| 100 | Ataxia-telangiectasia |
| 116 | Beckwith-Wiedemann syndrome |
| 125 | Bloom syndrome |
| 97297 | Bohring-Opitz syndrome |
| 363972 | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia |
| 319465 | Inherited acute myeloid leukemia |
| 626 | Large/giant congenital melanocytic nevus |
| 252202 | Constitutional mismatch repair deficiency syndrome |
| 3071 | Costello syndrome |
| 1553 | Curry-Jones syndrome |
| 124 | Diamond-Blackfan anemia |
| 284343 | DICER1 tumor-predisposition syndrome |
| 870 | Down syndrome |
| 733 | Familial adenomatous polyposis |
| 84 | Fanconi anemia |
| 404476 | Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome |
| 377 | Gorlin syndrome |
| 29072 | Hereditary pheochromocytoma-paraganglioma |
| 357027 | Hereditary retinoblastoma |
| 2929 | Juvenile polyposis syndrome |
| 524 | Li-Fraumeni syndrome |
| 144 | Lynch syndrome |
| 634461 | Mosaic neurofibromatosis type 1 |
| 1052 | Mosaic variegated aneuploidy syndrome |
| 2576 | Mulibrey nanism |
| 652 | Multiple endocrine neoplasia type 1 |
| 247698 | Multiple endocrine neoplasia type 2A |
| 247709 | Multiple endocrine neoplasia type 2B |
| 636 | Neurofibromatosis type 1 |
| 647 | Nijmegen breakage syndrome |
| 648 | Noonan syndrome |
| 296 | Ollier disease |
| 163634 | Maffucci syndrome |
| 2780 | Osteopathia striata-cranial sclerosis syndrome |
| 324299 | Multiple paragangliomas associated with polycythemia |
| 2849 | Perlman syndrome |
| 2869 | Peutz-Jeghers syndrome |
| 661 | Congenital central hypoventilation syndrome |
| 530313 | PIK3CA-related overgrowth syndrome |
| 306498 | PTEN hamartoma tumor syndrome |
| 231108 | Rhabdoid tumor predisposition syndrome |
| 2909 | Rothmund-Thomson syndrome |
| 71290 | Familial platelet disorder with associated myeloid malignancy |
| 494433 | MIRAGE syndrome |
| 2585 | Ataxia-pancytopenia syndrome |
| 42738 | Severe congenital neutropenia |
| 373 | Simpson-Golabi-Behmel syndrome |
| 821 | Sotos syndrome |
| 1775 | Dyskeratosis congenita |
| 3380 | Trisomy 18 syndrome |
| 805 | Tuberous sclerosis complex |
| 892 | Von Hippel-Lindau disease |
| 893 | WAGR syndrome |
| 3447 | Weaver syndrome |
| 910 | Xeroderma pigmentosum |
Expansion from 127.0.0.1 based on codesystem www.orpha.net version 2025
This value set contains 55 concepts