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Generated Narrative: ValueSet mii-vs-onko-praedispositionssyndrome-orpha

  • Include these codes as defined in http://www.orpha.net version Not Stated (use latest from terminology server)
    CodeDisplay
    100Ataxia-telangiectasia
    116Beckwith-Wiedemann syndrome
    125Bloom syndrome
    97297Bohring-Opitz syndrome
    363972Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
    319465Inherited acute myeloid leukemia
    626Large/giant congenital melanocytic nevus
    252202Constitutional mismatch repair deficiency syndrome
    3071Costello syndrome
    1553Curry-Jones syndrome
    124Diamond-Blackfan anemia
    284343DICER1 tumor-predisposition syndrome
    870Down syndrome
    733Familial adenomatous polyposis
    84Fanconi anemia
    404476Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
    377Gorlin syndrome
    29072Hereditary pheochromocytoma-paraganglioma
    357027Hereditary retinoblastoma
    2929Juvenile polyposis syndrome
    524Li-Fraumeni syndrome
    144Lynch syndrome
    634461Mosaic neurofibromatosis type 1
    1052Mosaic variegated aneuploidy syndrome
    2576Mulibrey nanism
    652Multiple endocrine neoplasia type 1
    247698Multiple endocrine neoplasia type 2A
    247709Multiple endocrine neoplasia type 2B
    636Neurofibromatosis type 1
    647Nijmegen breakage syndrome
    648Noonan syndrome
    296Ollier disease
    163634Maffucci syndrome
    2780Osteopathia striata-cranial sclerosis syndrome
    324299Multiple paragangliomas associated with polycythemia
    2849Perlman syndrome
    2869Peutz-Jeghers syndrome
    661Congenital central hypoventilation syndrome
    530313PIK3CA-related overgrowth syndrome
    306498PTEN hamartoma tumor syndrome
    231108Rhabdoid tumor predisposition syndrome
    2909Rothmund-Thomson syndrome
    71290Familial platelet disorder with associated myeloid malignancy
    494433MIRAGE syndrome
    2585Ataxia-pancytopenia syndrome
    42738Severe congenital neutropenia
    373Simpson-Golabi-Behmel syndrome
    821Sotos syndrome
    1775Dyskeratosis congenita
    3380Trisomy 18 syndrome
    805Tuberous sclerosis complex
    892Von Hippel-Lindau disease
    893WAGR syndrome
    3447Weaver syndrome
    910Xeroderma pigmentosum
 <status value="active"/> <experimental value="false"/> <date value="2026-09-15T07:11:34+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="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."/> <jurisdiction> <coding> <system value="urn:iso:std:iso:3166"/> <code value="DE"/> <display value="Germany"/> </coding> </jurisdiction> <compose> <include> <system value="http://www.orpha.net"/> <concept> <code value="100"/> <display value="Ataxia-telangiectasia"/> </concept> <concept> <code value="116"/> <display value="Beckwith-Wiedemann syndrome"/> </concept> <concept> <code value="125"/> <display value="Bloom syndrome"/> </concept> <concept> <code value="97297"/> <display value="Bohring-Opitz syndrome"/> </concept> <concept> <code value="363972"/> <display value="Noonan syndrome-like disorder with juvenile myelomonocytic leukemia"/> </concept> <concept> <code value="319465"/> <display value="Inherited acute myeloid leukemia"/> </concept> <concept> <code value="626"/> <display value="Large/giant congenital melanocytic nevus"/> </concept> <concept> <code value="252202"/> <display value="Constitutional mismatch repair deficiency syndrome"/> </concept> <concept> <code value="3071"/> <display value="Costello syndrome"/> </concept> <concept> <code value="1553"/> <display value="Curry-Jones syndrome"/> </concept> <concept> <code value="124"/> <display value="Diamond-Blackfan anemia"/> </concept> <concept> <code value="284343"/> <display value="DICER1 tumor-predisposition syndrome"/> </concept> <concept> <code value="870"/> <display value="Down syndrome"/> </concept> <concept> <code value="733"/> <display value="Familial adenomatous polyposis"/> </concept> <concept> <code value="84"/> <display value="Fanconi anemia"/> </concept> <concept> <code value="404476"/> <display value="Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome"/> </concept> <concept> <code value="377"/> <display value="Gorlin syndrome"/> </concept> <concept> <code value="29072"/> <display value="Hereditary pheochromocytoma-paraganglioma"/> </concept> <concept> <code value="357027"/> <display value="Hereditary retinoblastoma"/> </concept> <concept> <code value="2929"/> <display value="Juvenile polyposis syndrome"/> </concept> <concept> <code value="524"/> <display value="Li-Fraumeni syndrome"/> </concept> <concept> <code value="144"/> <display value="Lynch syndrome"/> </concept> <concept> <code value="634461"/> <display value="Mosaic neurofibromatosis type 1"/> </concept> <concept> <code value="1052"/> <display value="Mosaic variegated aneuploidy syndrome"/> </concept> <concept> <code value="2576"/> <display value="Mulibrey nanism"/> </concept> <concept> <code value="652"/> <display value="Multiple endocrine neoplasia type 1"/> </concept> <concept> <code value="247698"/> <display value="Multiple endocrine neoplasia type 2A"/> </concept> <concept> <code value="247709"/> <display value="Multiple endocrine neoplasia type 2B"/> </concept> <concept> <code value="636"/> <display value="Neurofibromatosis type 1"/> </concept> <concept> <code value="647"/> <display value="Nijmegen breakage syndrome"/> </concept> <concept> <code value="648"/> <display value="Noonan syndrome"/> </concept> <concept> <code value="296"/> <display value="Ollier disease"/> </concept> <concept> <code value="163634"/> <display value="Maffucci syndrome"/> </concept> <concept> <code value="2780"/> <display value="Osteopathia striata-cranial sclerosis syndrome"/> </concept> <concept> <code value="324299"/> <display value="Multiple paragangliomas associated with polycythemia"/> </concept> <concept> <code value="2849"/> <display value="Perlman syndrome"/> </concept> <concept> <code value="2869"/> <display value="Peutz-Jeghers syndrome"/> </concept> <concept> <code value="661"/> <display value="Congenital central hypoventilation syndrome"/> </concept> <concept> <code value="530313"/> <display value="PIK3CA-related overgrowth syndrome"/> </concept> <concept> <code value="306498"/> <display value="PTEN hamartoma tumor syndrome"/> </concept> <concept> <code value="231108"/> <display value="Rhabdoid tumor predisposition syndrome"/> </concept> <concept> <code value="2909"/> <display value="Rothmund-Thomson syndrome"/> </concept> <concept> <code value="71290"/> <display value="Familial platelet disorder with associated myeloid malignancy"/> </concept> <concept> <code value="494433"/> <display value="MIRAGE syndrome"/> </concept> <concept> <code value="2585"/> <display value="Ataxia-pancytopenia syndrome"/> </concept> <concept> <code value="42738"/> <display value="Severe congenital neutropenia"/> </concept> <concept> <code value="373"/> <display value="Simpson-Golabi-Behmel syndrome"/> </concept> <concept> <code value="821"/> <display value="Sotos syndrome"/> </concept> <concept> <code value="1775"/> <display value="Dyskeratosis congenita"/> </concept> <concept> <code value="3380"/> <display value="Trisomy 18 syndrome"/> </concept> <concept> <code value="805"/> <display value="Tuberous sclerosis complex"/> </concept> <concept> <code value="892"/> <display value="Von Hippel-Lindau disease"/> </concept> <concept> <code value="893"/> <display value="WAGR syndrome"/> </concept> <concept> <code value="3447"/> <display value="Weaver syndrome"/> </concept> <concept> <code value="910"/> <display value="Xeroderma pigmentosum"/> </concept> </include> </compose> </ValueSet>