PanCareSurPass Project HL7 FHIR Implementation Guide
0.1.0 - trial-use 150

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: Hereditary Predispositions (Orphacode) - TTL Representation

Active as of 2023-01-26

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:ValueSet;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "vs-orpha-predisposition-eu-pcsp"]; # 
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "extensions" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This value set includes codes based on the following rules:</p><ul><li>Include these codes as defined in <code>https://www.orpha.net</code><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>84</td><td>Fanconi anemia</td></tr><tr><td>100</td><td>Ataxia telangiectasia</td></tr><tr><td>109</td><td>Bannayan-Riley-Ruvalcaba syndrome</td></tr><tr><td>116</td><td>Beckwith-Wiedemann syndrome</td></tr><tr><td>122</td><td>Birt-Hogg-DubeĀ“ syndrome</td></tr><tr><td>125</td><td>Bloom syndrome</td></tr><tr><td>144</td><td>Lynch  Syndrome</td></tr><tr><td>145</td><td>Hereditary breast and ovarian cancer syndrome</td></tr><tr><td>201</td><td>Cowden Syndrome</td></tr><tr><td>321</td><td>Multiple osteochondromas</td></tr><tr><td>347</td><td>Frasier syndrome</td></tr><tr><td>373</td><td>Simpson-Golabi-Behmel syndrome</td></tr><tr><td>377</td><td>Gorlin syndrome</td></tr><tr><td>500</td><td>LEOPARD syndrome</td></tr><tr><td>523</td><td>Hereditary leiomyomatosis and renal cell cancer</td></tr><tr><td>524</td><td>Li-Fraumeni Syndrome</td></tr><tr><td>587</td><td>Muir Torre syndrome</td></tr><tr><td>618</td><td>Familial Melanoma</td></tr><tr><td>637</td><td>Neurofibromatosis type 2</td></tr><tr><td>647</td><td>Nijmegen breakage syndrome</td></tr><tr><td>648</td><td>Noonan syndrome</td></tr><tr><td>652</td><td>Multiple endocrine neoplasia type 1</td></tr><tr><td>653</td><td>Multiple endocrine neoplasia type 2</td></tr><tr><td>654</td><td>Nephroblastoma</td></tr><tr><td>660</td><td>Omphalocele</td></tr><tr><td>676</td><td>Hereditary chronic pancreatitis</td></tr><tr><td>733</td><td>Familial adenomatous polyposis</td></tr><tr><td>744</td><td>Proteus syndrome</td></tr><tr><td>805</td><td>Tuberous sclerosis complex</td></tr><tr><td>811</td><td>Shwachman-Diamond syndrome</td></tr><tr><td>821</td><td>Sotos syndrome</td></tr><tr><td>870</td><td>Down syndrome</td></tr><tr><td>881</td><td>Turner syndrome</td></tr><tr><td>892</td><td>von Hippel-Lindau syndrome</td></tr><tr><td>893</td><td>WAGR syndrome</td></tr><tr><td>902</td><td>Werner syndrome</td></tr><tr><td>906</td><td>Wiskott-Aldrich syndrome</td></tr><tr><td>910</td><td>Xeroderma pigmentosum</td></tr><tr><td>1331</td><td>Familial prostate cancer</td></tr><tr><td>1340</td><td>Cardio-Facio-Cutaneous (CFC) syndrome</td></tr><tr><td>1359</td><td>Carney Complex</td></tr><tr><td>1572</td><td>Common variable immune deficiency</td></tr><tr><td>1915</td><td>Fetal alcohol syndrome</td></tr><tr><td>2128</td><td>Isolated Hemihypertrophy</td></tr><tr><td>2346</td><td>Angioosteohypertrophic syndrome</td></tr><tr><td>2442</td><td>X-linked lymphoproliferative syndrome</td></tr><tr><td>2678</td><td>Neurofibromatosis type 6</td></tr><tr><td>2869</td><td>Peutz-Jeghers syndrome</td></tr><tr><td>2909</td><td>Rothmund Thomson syndrome</td></tr><tr><td>2929</td><td>Juvenile polyposis syndrome</td></tr><tr><td>3261</td><td>Autoimmune lymphoproliferative syndrome</td></tr><tr><td>26106</td><td>Hereditary diffuse gastric cancer</td></tr><tr><td>29072</td><td>Hereditary pheochromocytoma-paraganglioma</td></tr><tr><td>44890</td><td>Gastrointestinal stromal tumor</td></tr><tr><td>47044</td><td>Hereditary papillary renal cancer syndrome</td></tr><tr><td>77828</td><td>Genetic obesity</td></tr><tr><td>93460</td><td>Overgrowth syndrome</td></tr><tr><td>97286</td><td>Carney-Stratakis Syndrome</td></tr><tr><td>99817</td><td>Non-polyposis Turcot syndrome</td></tr><tr><td>99818</td><td>Turcot Syndrome with polyposis</td></tr><tr><td>101088</td><td>X-linked hyper-IgM syndrome</td></tr><tr><td>141145</td><td>Hemifacial hyperplasia</td></tr><tr><td>156207</td><td>Macroglossia</td></tr><tr><td>220460</td><td>Attenuated familial adenomatous polyposis</td></tr><tr><td>231040</td><td>Noonan syndrome with multiple lentigines</td></tr><tr><td>231108</td><td>Familial rhabdoid tumor</td></tr><tr><td>251347</td><td>Ataxia-telangiectasia-like disorder</td></tr><tr><td>295049</td><td>Upper limb Hypertrophy</td></tr><tr><td>295051</td><td>Lower limb hypertrophy</td></tr><tr><td>319487</td><td>Familial follicular or papillary thyroid cancer</td></tr><tr><td>331223</td><td>Hyper IgE Syndrome (HIES)</td></tr><tr><td>357027</td><td>Hereditary retinoblastoma</td></tr><tr><td>363700</td><td>Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion</td></tr><tr><td>404560</td><td>Familial atypical multiple mole melanoma syndrome</td></tr><tr><td>423776</td><td>Hereditary gastric cancer</td></tr><tr><td>443909</td><td>Hereditary nonpolyposis colon cancer</td></tr><tr><td>458830</td><td>Rare capillary malformation with associated anomalies</td></tr></table></li><li>Include these codes as defined in <a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-v3-NullFlavor.html\"><code>http://terminology.hl7.org/CodeSystem/v3-NullFlavor</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td><a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-v3-NullFlavor.html#v3-NullFlavor-OTH\">OTH</a></td><td>Other</td><td>**Description:**The actual value is not a member of the set of permitted data values in the constrained value domain of a variable. (e.g., concept not provided by required code system).<br/><br/>**Usage Notes**: This flavor and its specializations are most commonly used with the CD datatype and its flavors. However, it may apply to \\*any\\* datatype where the constraints of the type are tighter than can be conveyed. For example, a PQ that is for a true measured amount whose units are not supported in UCUM, a need to convey a REAL when the type has been constrained to INT, etc.<br/><br/>With coded datatypes, this null flavor may only be used if the vocabulary binding has a coding strength of CNE. By definition, all local codes and original text are part of the value set if the coding strength is CWE.</td></tr></table></li></ul></div>"
  ]; # 
  fhir:ValueSet.url [ fhir:value "http://hl7.eu/fhir/ig/pcsp/ValueSet/vs-orpha-predisposition-eu-pcsp"]; # 
  fhir:ValueSet.version [ fhir:value "0.1.0"]; # 
  fhir:ValueSet.name [ fhir:value "OrphaHereditaryPredisposition"]; # 
  fhir:ValueSet.title [ fhir:value "Hereditary Predispositions (Orphacode)"]; # 
  fhir:ValueSet.status [ fhir:value "active"]; # 
  fhir:ValueSet.experimental [ fhir:value "false"^^xsd:boolean]; # 
  fhir:ValueSet.date [ fhir:value "2023-01-26T09:50:21+01:00"^^xsd:dateTime]; # 
  fhir:ValueSet.publisher [ fhir:value "PanCareSurPass Project"]; # 
  fhir:ValueSet.contact [
     fhir:index 0;
     fhir:ContactDetail.name [ fhir:value "PanCareSurPass Project" ];
     fhir:ContactDetail.telecom [
       fhir:index 0;
       fhir:ContactPoint.system [ fhir:value "url" ];
       fhir:ContactPoint.value [ fhir:value "https://www.pancaresurpass.eu/" ]     ]
  ], [
     fhir:index 1;
     fhir:ContactDetail.name [ fhir:value "PanCareSurPass Project" ];
     fhir:ContactDetail.telecom [
       fhir:index 0;
       fhir:ContactPoint.system [ fhir:value "url" ];
       fhir:ContactPoint.value [ fhir:value "https://www.pancaresurpass.eu/" ]     ]
  ]; # 
  fhir:ValueSet.description [ fhir:value "Hereditary Predispositions (Orphacode)"]; # 
  fhir:ValueSet.jurisdiction [
     fhir:index 0;
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://unstats.un.org/unsd/methods/m49/m49.htm" ];
       fhir:Coding.code [ fhir:value "150" ];
       fhir:Coding.display [ fhir:value "Europe" ]     ]
  ]; # 
  fhir:ValueSet.compose [
     fhir:ValueSet.compose.include [
       fhir:index 0;
       fhir:ValueSet.compose.include.system [ fhir:value "https://www.orpha.net" ];
       fhir:ValueSet.compose.include.concept [
         fhir:index 0;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "84" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Fanconi anemia" ]       ], [
         fhir:index 1;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "100" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Ataxia telangiectasia" ]       ], [
         fhir:index 2;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "109" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Bannayan-Riley-Ruvalcaba syndrome" ]       ], [
         fhir:index 3;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "116" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Beckwith-Wiedemann syndrome" ]       ], [
         fhir:index 4;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "122" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Birt-Hogg-DubeĀ“ syndrome" ]       ], [
         fhir:index 5;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "125" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Bloom syndrome" ]       ], [
         fhir:index 6;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "144" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Lynch  Syndrome" ]       ], [
         fhir:index 7;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "145" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Hereditary breast and ovarian cancer syndrome" ]       ], [
         fhir:index 8;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "201" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Cowden Syndrome" ]       ], [
         fhir:index 9;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "321" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Multiple osteochondromas" ]       ], [
         fhir:index 10;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "347" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Frasier syndrome" ]       ], [
         fhir:index 11;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "373" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Simpson-Golabi-Behmel syndrome" ]       ], [
         fhir:index 12;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "377" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Gorlin syndrome" ]       ], [
         fhir:index 13;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "500" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "LEOPARD syndrome" ]       ], [
         fhir:index 14;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "523" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Hereditary leiomyomatosis and renal cell cancer" ]       ], [
         fhir:index 15;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "524" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Li-Fraumeni Syndrome" ]       ], [
         fhir:index 16;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "587" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Muir Torre syndrome" ]       ], [
         fhir:index 17;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "618" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Familial Melanoma" ]       ], [
         fhir:index 18;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "637" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Neurofibromatosis type 2" ]       ], [
         fhir:index 19;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "647" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Nijmegen breakage syndrome" ]       ], [
         fhir:index 20;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "648" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Noonan syndrome" ]       ], [
         fhir:index 21;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "652" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Multiple endocrine neoplasia type 1" ]       ], [
         fhir:index 22;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "653" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Multiple endocrine neoplasia type 2" ]       ], [
         fhir:index 23;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "654" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Nephroblastoma" ]       ], [
         fhir:index 24;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "660" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Omphalocele" ]       ], [
         fhir:index 25;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "676" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Hereditary chronic pancreatitis" ]       ], [
         fhir:index 26;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "733" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Familial adenomatous polyposis" ]       ], [
         fhir:index 27;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "744" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Proteus syndrome" ]       ], [
         fhir:index 28;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "805" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Tuberous sclerosis complex" ]       ], [
         fhir:index 29;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "811" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Shwachman-Diamond syndrome" ]       ], [
         fhir:index 30;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "821" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Sotos syndrome" ]       ], [
         fhir:index 31;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "870" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Down syndrome" ]       ], [
         fhir:index 32;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "881" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Turner syndrome" ]       ], [
         fhir:index 33;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "892" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "von Hippel-Lindau syndrome" ]       ], [
         fhir:index 34;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "893" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "WAGR syndrome" ]       ], [
         fhir:index 35;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "902" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Werner syndrome" ]       ], [
         fhir:index 36;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "906" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Wiskott-Aldrich syndrome" ]       ], [
         fhir:index 37;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "910" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Xeroderma pigmentosum" ]       ], [
         fhir:index 38;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "1331" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Familial prostate cancer" ]       ], [
         fhir:index 39;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "1340" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Cardio-Facio-Cutaneous (CFC) syndrome" ]       ], [
         fhir:index 40;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "1359" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Carney Complex" ]       ], [
         fhir:index 41;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "1572" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Common variable immune deficiency" ]       ], [
         fhir:index 42;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "1915" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Fetal alcohol syndrome" ]       ], [
         fhir:index 43;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "2128" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Isolated Hemihypertrophy" ]       ], [
         fhir:index 44;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "2346" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Angioosteohypertrophic syndrome" ]       ], [
         fhir:index 45;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "2442" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "X-linked lymphoproliferative syndrome" ]       ], [
         fhir:index 46;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "2678" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Neurofibromatosis type 6" ]       ], [
         fhir:index 47;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "2869" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Peutz-Jeghers syndrome" ]       ], [
         fhir:index 48;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "2909" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Rothmund Thomson syndrome" ]       ], [
         fhir:index 49;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "2929" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Juvenile polyposis syndrome" ]       ], [
         fhir:index 50;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "3261" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Autoimmune lymphoproliferative syndrome" ]       ], [
         fhir:index 51;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "26106" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Hereditary diffuse gastric cancer" ]       ], [
         fhir:index 52;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "29072" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Hereditary pheochromocytoma-paraganglioma" ]       ], [
         fhir:index 53;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "44890" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Gastrointestinal stromal tumor" ]       ], [
         fhir:index 54;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "47044" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Hereditary papillary renal cancer syndrome" ]       ], [
         fhir:index 55;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "77828" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Genetic obesity" ]       ], [
         fhir:index 56;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "93460" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Overgrowth syndrome" ]       ], [
         fhir:index 57;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "97286" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Carney-Stratakis Syndrome" ]       ], [
         fhir:index 58;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "99817" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Non-polyposis Turcot syndrome" ]       ], [
         fhir:index 59;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "99818" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Turcot Syndrome with polyposis" ]       ], [
         fhir:index 60;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "101088" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "X-linked hyper-IgM syndrome" ]       ], [
         fhir:index 61;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "141145" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Hemifacial hyperplasia" ]       ], [
         fhir:index 62;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "156207" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Macroglossia" ]       ], [
         fhir:index 63;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "220460" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Attenuated familial adenomatous polyposis" ]       ], [
         fhir:index 64;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "231040" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Noonan syndrome with multiple lentigines" ]       ], [
         fhir:index 65;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "231108" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Familial rhabdoid tumor" ]       ], [
         fhir:index 66;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "251347" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Ataxia-telangiectasia-like disorder" ]       ], [
         fhir:index 67;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "295049" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Upper limb Hypertrophy" ]       ], [
         fhir:index 68;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "295051" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Lower limb hypertrophy" ]       ], [
         fhir:index 69;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "319487" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Familial follicular or papillary thyroid cancer" ]       ], [
         fhir:index 70;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "331223" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Hyper IgE Syndrome (HIES)" ]       ], [
         fhir:index 71;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "357027" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Hereditary retinoblastoma" ]       ], [
         fhir:index 72;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "363700" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion" ]       ], [
         fhir:index 73;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "404560" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Familial atypical multiple mole melanoma syndrome" ]       ], [
         fhir:index 74;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "423776" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Hereditary gastric cancer" ]       ], [
         fhir:index 75;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "443909" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Hereditary nonpolyposis colon cancer" ]       ], [
         fhir:index 76;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "458830" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Rare capillary malformation with associated anomalies" ]       ]     ], [
       fhir:index 1;
       fhir:ValueSet.compose.include.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-NullFlavor" ];
       fhir:ValueSet.compose.include.concept [
         fhir:index 0;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "OTH" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Other" ]       ]     ]
  ]. # 

# - ontology header ------------------------------------------------------------

 a owl:Ontology;
  owl:imports fhir:fhir.ttl.