PanCareSurPass Project HL7 FHIR Implementation Guide
0.2.0 - CI Build
150
PanCareSurPass Project HL7 FHIR Implementation Guide
0.2.0 - CI Build
150
PanCareSurPass Project HL7 FHIR Implementation Guide, published by PanCareSurPass Project. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-eu/pcsp/ and changes regularly. See the Directory of published versions
| Draft as of 2024-09-11 |
@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:id [ fhir:v "vs-orpha-predisposition-eu-pcsp"] ; #
fhir:text [
fhir:status [ fhir:v "extensions" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet vs-orpha-predisposition-eu-pcsp</b></p><a name=\"vs-orpha-predisposition-eu-pcsp\"> </a><a name=\"hcvs-orpha-predisposition-eu-pcsp\"> </a><a name=\"vs-orpha-predisposition-eu-pcsp-en-US\"> </a><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-Dube´ 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/6.0.2/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/6.0.2/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:url [ fhir:v "http://hl7.eu/fhir/ig/pcsp/ValueSet/vs-orpha-predisposition-eu-pcsp"^^xsd:anyURI] ; #
fhir:version [ fhir:v "0.2.0"] ; #
fhir:name [ fhir:v "OrphaHereditaryPredisposition"] ; #
fhir:title [ fhir:v "Hereditary Predispositions (Orphacode)"] ; #
fhir:status [ fhir:v "draft"] ; #
fhir:experimental [ fhir:v "false"^^xsd:boolean] ; #
fhir:date [ fhir:v "2024-09-11T13:25:13+00:00"^^xsd:dateTime] ; #
fhir:publisher [ fhir:v "PanCareSurPass Project"] ; #
fhir:contact ( [
fhir:name [ fhir:v "PanCareSurPass Project" ] ;
( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://www.pancaresurpass.eu/" ] ] )
] [
fhir:name [ fhir:v "PanCareSurPass Project" ] ;
( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://www.pancaresurpass.eu/" ] ] )
] ) ; #
fhir:description [ fhir:v "Hereditary Predispositions (Orphacode)"] ; #
fhir:jurisdiction ( [
( fhir:coding [
fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ] ;
fhir:code [ fhir:v "150" ] ;
fhir:display [ fhir:v "Europe" ] ] )
] ) ; #
fhir:compose [
( fhir:include [
fhir:system [ fhir:v "https://www.orpha.net"^^xsd:anyURI ] ;
( fhir:concept [
fhir:code [ fhir:v "84" ] ;
fhir:display [ fhir:v "Fanconi anemia" ] ] [
fhir:code [ fhir:v "100" ] ;
fhir:display [ fhir:v "Ataxia telangiectasia" ] ] [
fhir:code [ fhir:v "109" ] ;
fhir:display [ fhir:v "Bannayan-Riley-Ruvalcaba syndrome" ] ] [
fhir:code [ fhir:v "116" ] ;
fhir:display [ fhir:v "Beckwith-Wiedemann syndrome" ] ] [
fhir:code [ fhir:v "122" ] ;
fhir:display [ fhir:v "Birt-Hogg-Dube´ syndrome" ] ] [
fhir:code [ fhir:v "125" ] ;
fhir:display [ fhir:v "Bloom syndrome" ] ] [
fhir:code [ fhir:v "144" ] ;
fhir:display [ fhir:v "Lynch Syndrome" ] ] [
fhir:code [ fhir:v "145" ] ;
fhir:display [ fhir:v "Hereditary breast and ovarian cancer syndrome" ] ] [
fhir:code [ fhir:v "201" ] ;
fhir:display [ fhir:v "Cowden Syndrome" ] ] [
fhir:code [ fhir:v "321" ] ;
fhir:display [ fhir:v "Multiple osteochondromas" ] ] [
fhir:code [ fhir:v "347" ] ;
fhir:display [ fhir:v "Frasier syndrome" ] ] [
fhir:code [ fhir:v "373" ] ;
fhir:display [ fhir:v "Simpson-Golabi-Behmel syndrome" ] ] [
fhir:code [ fhir:v "377" ] ;
fhir:display [ fhir:v "Gorlin syndrome" ] ] [
fhir:code [ fhir:v "500" ] ;
fhir:display [ fhir:v "LEOPARD syndrome" ] ] [
fhir:code [ fhir:v "523" ] ;
fhir:display [ fhir:v "Hereditary leiomyomatosis and renal cell cancer" ] ] [
fhir:code [ fhir:v "524" ] ;
fhir:display [ fhir:v "Li-Fraumeni Syndrome" ] ] [
fhir:code [ fhir:v "587" ] ;
fhir:display [ fhir:v "Muir Torre syndrome" ] ] [
fhir:code [ fhir:v "618" ] ;
fhir:display [ fhir:v "Familial Melanoma" ] ] [
fhir:code [ fhir:v "637" ] ;
fhir:display [ fhir:v "Neurofibromatosis type 2" ] ] [
fhir:code [ fhir:v "647" ] ;
fhir:display [ fhir:v "Nijmegen breakage syndrome" ] ] [
fhir:code [ fhir:v "648" ] ;
fhir:display [ fhir:v "Noonan syndrome" ] ] [
fhir:code [ fhir:v "652" ] ;
fhir:display [ fhir:v "Multiple endocrine neoplasia type 1" ] ] [
fhir:code [ fhir:v "653" ] ;
fhir:display [ fhir:v "Multiple endocrine neoplasia type 2" ] ] [
fhir:code [ fhir:v "654" ] ;
fhir:display [ fhir:v "Nephroblastoma" ] ] [
fhir:code [ fhir:v "660" ] ;
fhir:display [ fhir:v "Omphalocele" ] ] [
fhir:code [ fhir:v "676" ] ;
fhir:display [ fhir:v "Hereditary chronic pancreatitis" ] ] [
fhir:code [ fhir:v "733" ] ;
fhir:display [ fhir:v "Familial adenomatous polyposis" ] ] [
fhir:code [ fhir:v "744" ] ;
fhir:display [ fhir:v "Proteus syndrome" ] ] [
fhir:code [ fhir:v "805" ] ;
fhir:display [ fhir:v "Tuberous sclerosis complex" ] ] [
fhir:code [ fhir:v "811" ] ;
fhir:display [ fhir:v "Shwachman-Diamond syndrome" ] ] [
fhir:code [ fhir:v "821" ] ;
fhir:display [ fhir:v "Sotos syndrome" ] ] [
fhir:code [ fhir:v "870" ] ;
fhir:display [ fhir:v "Down syndrome" ] ] [
fhir:code [ fhir:v "881" ] ;
fhir:display [ fhir:v "Turner syndrome" ] ] [
fhir:code [ fhir:v "892" ] ;
fhir:display [ fhir:v "von Hippel-Lindau syndrome" ] ] [
fhir:code [ fhir:v "893" ] ;
fhir:display [ fhir:v "WAGR syndrome" ] ] [
fhir:code [ fhir:v "902" ] ;
fhir:display [ fhir:v "Werner syndrome" ] ] [
fhir:code [ fhir:v "906" ] ;
fhir:display [ fhir:v "Wiskott-Aldrich syndrome" ] ] [
fhir:code [ fhir:v "910" ] ;
fhir:display [ fhir:v "Xeroderma pigmentosum" ] ] [
fhir:code [ fhir:v "1331" ] ;
fhir:display [ fhir:v "Familial prostate cancer" ] ] [
fhir:code [ fhir:v "1340" ] ;
fhir:display [ fhir:v "Cardio-Facio-Cutaneous (CFC) syndrome" ] ] [
fhir:code [ fhir:v "1359" ] ;
fhir:display [ fhir:v "Carney Complex" ] ] [
fhir:code [ fhir:v "1572" ] ;
fhir:display [ fhir:v "Common variable immune deficiency" ] ] [
fhir:code [ fhir:v "1915" ] ;
fhir:display [ fhir:v "Fetal alcohol syndrome" ] ] [
fhir:code [ fhir:v "2128" ] ;
fhir:display [ fhir:v "Isolated Hemihypertrophy" ] ] [
fhir:code [ fhir:v "2346" ] ;
fhir:display [ fhir:v "Angioosteohypertrophic syndrome" ] ] [
fhir:code [ fhir:v "2442" ] ;
fhir:display [ fhir:v "X-linked lymphoproliferative syndrome" ] ] [
fhir:code [ fhir:v "2678" ] ;
fhir:display [ fhir:v "Neurofibromatosis type 6" ] ] [
fhir:code [ fhir:v "2869" ] ;
fhir:display [ fhir:v "Peutz-Jeghers syndrome" ] ] [
fhir:code [ fhir:v "2909" ] ;
fhir:display [ fhir:v "Rothmund Thomson syndrome" ] ] [
fhir:code [ fhir:v "2929" ] ;
fhir:display [ fhir:v "Juvenile polyposis syndrome" ] ] [
fhir:code [ fhir:v "3261" ] ;
fhir:display [ fhir:v "Autoimmune lymphoproliferative syndrome" ] ] [
fhir:code [ fhir:v "26106" ] ;
fhir:display [ fhir:v "Hereditary diffuse gastric cancer" ] ] [
fhir:code [ fhir:v "29072" ] ;
fhir:display [ fhir:v "Hereditary pheochromocytoma-paraganglioma" ] ] [
fhir:code [ fhir:v "44890" ] ;
fhir:display [ fhir:v "Gastrointestinal stromal tumor" ] ] [
fhir:code [ fhir:v "47044" ] ;
fhir:display [ fhir:v "Hereditary papillary renal cancer syndrome" ] ] [
fhir:code [ fhir:v "77828" ] ;
fhir:display [ fhir:v "Genetic obesity" ] ] [
fhir:code [ fhir:v "93460" ] ;
fhir:display [ fhir:v "Overgrowth syndrome" ] ] [
fhir:code [ fhir:v "97286" ] ;
fhir:display [ fhir:v "Carney-Stratakis Syndrome" ] ] [
fhir:code [ fhir:v "99817" ] ;
fhir:display [ fhir:v "Non-polyposis Turcot syndrome" ] ] [
fhir:code [ fhir:v "99818" ] ;
fhir:display [ fhir:v "Turcot Syndrome with polyposis" ] ] [
fhir:code [ fhir:v "101088" ] ;
fhir:display [ fhir:v "X-linked hyper-IgM syndrome" ] ] [
fhir:code [ fhir:v "141145" ] ;
fhir:display [ fhir:v "Hemifacial hyperplasia" ] ] [
fhir:code [ fhir:v "156207" ] ;
fhir:display [ fhir:v "Macroglossia" ] ] [
fhir:code [ fhir:v "220460" ] ;
fhir:display [ fhir:v "Attenuated familial adenomatous polyposis" ] ] [
fhir:code [ fhir:v "231040" ] ;
fhir:display [ fhir:v "Noonan syndrome with multiple lentigines" ] ] [
fhir:code [ fhir:v "231108" ] ;
fhir:display [ fhir:v "Familial rhabdoid tumor" ] ] [
fhir:code [ fhir:v "251347" ] ;
fhir:display [ fhir:v "Ataxia-telangiectasia-like disorder" ] ] [
fhir:code [ fhir:v "295049" ] ;
fhir:display [ fhir:v "Upper limb Hypertrophy" ] ] [
fhir:code [ fhir:v "295051" ] ;
fhir:display [ fhir:v "Lower limb hypertrophy" ] ] [
fhir:code [ fhir:v "319487" ] ;
fhir:display [ fhir:v "Familial follicular or papillary thyroid cancer" ] ] [
fhir:code [ fhir:v "331223" ] ;
fhir:display [ fhir:v "Hyper IgE Syndrome (HIES)" ] ] [
fhir:code [ fhir:v "357027" ] ;
fhir:display [ fhir:v "Hereditary retinoblastoma" ] ] [
fhir:code [ fhir:v "363700" ] ;
fhir:display [ fhir:v "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion" ] ] [
fhir:code [ fhir:v "404560" ] ;
fhir:display [ fhir:v "Familial atypical multiple mole melanoma syndrome" ] ] [
fhir:code [ fhir:v "423776" ] ;
fhir:display [ fhir:v "Hereditary gastric cancer" ] ] [
fhir:code [ fhir:v "443909" ] ;
fhir:display [ fhir:v "Hereditary nonpolyposis colon cancer" ] ] [
fhir:code [ fhir:v "458830" ] ;
fhir:display [ fhir:v "Rare capillary malformation with associated anomalies" ] ] ) ] [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v3-NullFlavor"^^xsd:anyURI ] ;
( fhir:concept [
fhir:code [ fhir:v "OTH" ] ;
fhir:display [ fhir:v "Other" ] ] ) ] )
] . #
IG © 2021+ PanCareSurPass Project. Package hl7.eu.fhir.pcsp#0.2.0 based on FHIR 4.0.1. Generated 2024-09-11
Links: Table of Contents |
QA Report
The PanCareSurPass Research and Innovation Action has received funding from the European Union's Horizon 2020
research and innovation programme under grant agreement No. 899999.
