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
| Active Stand: 2026-09-15 |
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<div xml:lang="de" lang="de"><hr/><p><b>German</b></p><hr/><p class="res-header-id"><b>Generated Narrative: ValueSet mii-vs-onko-praedispositionssyndrome-orpha</b></p><a name="de-mii-vs-onko-praedispositionssyndrome-orpha"> </a><a name="de-hcmii-vs-onko-praedispositionssyndrome-orpha"> </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-shareablevalueset.html">Shareable ValueSet</a>, <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>, <a href="http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-crmi-computablevalueset.html">CRMI Computable ValueSet</a></p></div><ul><li>Include these codes as defined in <code>http://www.orpha.net</code><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>100</td><td>Ataxia-telangiectasia</td></tr><tr><td>116</td><td>Beckwith-Wiedemann syndrome</td></tr><tr><td>125</td><td>Bloom syndrome</td></tr><tr><td>97297</td><td>Bohring-Opitz syndrome</td></tr><tr><td>363972</td><td>Noonan syndrome-like disorder with juvenile myelomonocytic leukemia</td></tr><tr><td>319465</td><td>Inherited acute myeloid leukemia</td></tr><tr><td>626</td><td>Large/giant congenital melanocytic nevus</td></tr><tr><td>252202</td><td>Constitutional mismatch repair deficiency syndrome</td></tr><tr><td>3071</td><td>Costello syndrome</td></tr><tr><td>1553</td><td>Curry-Jones syndrome</td></tr><tr><td>124</td><td>Diamond-Blackfan anemia</td></tr><tr><td>284343</td><td>DICER1 tumor-predisposition syndrome</td></tr><tr><td>870</td><td>Down syndrome</td></tr><tr><td>733</td><td>Familial adenomatous polyposis</td></tr><tr><td>84</td><td>Fanconi anemia</td></tr><tr><td>404476</td><td>Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome</td></tr><tr><td>377</td><td>Gorlin syndrome</td></tr><tr><td>29072</td><td>Hereditary pheochromocytoma-paraganglioma</td></tr><tr><td>357027</td><td>Hereditary retinoblastoma</td></tr><tr><td>2929</td><td>Juvenile polyposis syndrome</td></tr><tr><td>524</td><td>Li-Fraumeni syndrome</td></tr><tr><td>144</td><td>Lynch syndrome</td></tr><tr><td>634461</td><td>Mosaic neurofibromatosis type 1</td></tr><tr><td>1052</td><td>Mosaic variegated aneuploidy syndrome</td></tr><tr><td>2576</td><td>Mulibrey nanism</td></tr><tr><td>652</td><td>Multiple endocrine neoplasia type 1</td></tr><tr><td>247698</td><td>Multiple endocrine neoplasia type 2A</td></tr><tr><td>247709</td><td>Multiple endocrine neoplasia type 2B</td></tr><tr><td>636</td><td>Neurofibromatosis type 1</td></tr><tr><td>647</td><td>Nijmegen breakage syndrome</td></tr><tr><td>648</td><td>Noonan syndrome</td></tr><tr><td>296</td><td>Ollier disease</td></tr><tr><td>163634</td><td>Maffucci syndrome</td></tr><tr><td>2780</td><td>Osteopathia striata-cranial sclerosis syndrome</td></tr><tr><td>324299</td><td>Multiple paragangliomas associated with polycythemia</td></tr><tr><td>2849</td><td>Perlman syndrome</td></tr><tr><td>2869</td><td>Peutz-Jeghers syndrome</td></tr><tr><td>661</td><td>Congenital central hypoventilation syndrome</td></tr><tr><td>530313</td><td>PIK3CA-related overgrowth syndrome</td></tr><tr><td>306498</td><td>PTEN hamartoma tumor syndrome</td></tr><tr><td>231108</td><td>Rhabdoid tumor predisposition syndrome</td></tr><tr><td>2909</td><td>Rothmund-Thomson syndrome</td></tr><tr><td>71290</td><td>Familial platelet disorder with associated myeloid malignancy</td></tr><tr><td>494433</td><td>MIRAGE syndrome</td></tr><tr><td>2585</td><td>Ataxia-pancytopenia syndrome</td></tr><tr><td>42738</td><td>Severe congenital neutropenia</td></tr><tr><td>373</td><td>Simpson-Golabi-Behmel syndrome</td></tr><tr><td>821</td><td>Sotos syndrome</td></tr><tr><td>1775</td><td>Dyskeratosis congenita</td></tr><tr><td>3380</td><td>Trisomy 18 syndrome</td></tr><tr><td>805</td><td>Tuberous sclerosis complex</td></tr><tr><td>892</td><td>Von Hippel-Lindau disease</td></tr><tr><td>893</td><td>WAGR syndrome</td></tr><tr><td>3447</td><td>Weaver syndrome</td></tr><tr><td>910</td><td>Xeroderma pigmentosum</td></tr></table></li></ul></div>
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