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 2024-12-11 |
{
"resourceType" : "ValueSet",
"id" : "vs-orpha-predisposition-eu-pcsp",
"text" : {
"status" : "extensions",
"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/6.1.0/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/6.1.0/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>"
},
"url" : "http://hl7.eu/fhir/ig/pcsp/ValueSet/vs-orpha-predisposition-eu-pcsp",
"version" : "0.2.0",
"name" : "OrphaHereditaryPredisposition",
"title" : "Hereditary Predispositions (Orphacode)",
"status" : "draft",
"experimental" : false,
"date" : "2024-12-11T15:09:45+00:00",
"publisher" : "PanCareSurPass Project",
"contact" : [
{
"name" : "PanCareSurPass Project",
"telecom" : [
{
"system" : "url",
"value" : "https://www.pancaresurpass.eu/"
}
]
},
{
"name" : "PanCareSurPass Project",
"telecom" : [
{
"system" : "url",
"value" : "https://www.pancaresurpass.eu/"
}
]
}
],
"description" : "Hereditary Predispositions (Orphacode)",
"jurisdiction" : [
{
"coding" : [
{
"system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code" : "150",
"display" : "Europe"
}
]
}
],
"compose" : {
"include" : [
{
"system" : "https://www.orpha.net",
"concept" : [
{
"code" : "84",
"display" : "Fanconi anemia"
},
{
"code" : "100",
"display" : "Ataxia telangiectasia"
},
{
"code" : "109",
"display" : "Bannayan-Riley-Ruvalcaba syndrome"
},
{
"code" : "116",
"display" : "Beckwith-Wiedemann syndrome"
},
{
"code" : "122",
"display" : "Birt-Hogg-Dube´ syndrome"
},
{
"code" : "125",
"display" : "Bloom syndrome"
},
{
"code" : "144",
"display" : "Lynch Syndrome"
},
{
"code" : "145",
"display" : "Hereditary breast and ovarian cancer syndrome"
},
{
"code" : "201",
"display" : "Cowden Syndrome"
},
{
"code" : "321",
"display" : "Multiple osteochondromas"
},
{
"code" : "347",
"display" : "Frasier syndrome"
},
{
"code" : "373",
"display" : "Simpson-Golabi-Behmel syndrome"
},
{
"code" : "377",
"display" : "Gorlin syndrome"
},
{
"code" : "500",
"display" : "LEOPARD syndrome"
},
{
"code" : "523",
"display" : "Hereditary leiomyomatosis and renal cell cancer"
},
{
"code" : "524",
"display" : "Li-Fraumeni Syndrome"
},
{
"code" : "587",
"display" : "Muir Torre syndrome"
},
{
"code" : "618",
"display" : "Familial Melanoma"
},
{
"code" : "637",
"display" : "Neurofibromatosis type 2"
},
{
"code" : "647",
"display" : "Nijmegen breakage syndrome"
},
{
"code" : "648",
"display" : "Noonan syndrome"
},
{
"code" : "652",
"display" : "Multiple endocrine neoplasia type 1"
},
{
"code" : "653",
"display" : "Multiple endocrine neoplasia type 2"
},
{
"code" : "654",
"display" : "Nephroblastoma"
},
{
"code" : "660",
"display" : "Omphalocele"
},
{
"code" : "676",
"display" : "Hereditary chronic pancreatitis"
},
{
"code" : "733",
"display" : "Familial adenomatous polyposis"
},
{
"code" : "744",
"display" : "Proteus syndrome"
},
{
"code" : "805",
"display" : "Tuberous sclerosis complex"
},
{
"code" : "811",
"display" : "Shwachman-Diamond syndrome"
},
{
"code" : "821",
"display" : "Sotos syndrome"
},
{
"code" : "870",
"display" : "Down syndrome"
},
{
"code" : "881",
"display" : "Turner syndrome"
},
{
"code" : "892",
"display" : "von Hippel-Lindau syndrome"
},
{
"code" : "893",
"display" : "WAGR syndrome"
},
{
"code" : "902",
"display" : "Werner syndrome"
},
{
"code" : "906",
"display" : "Wiskott-Aldrich syndrome"
},
{
"code" : "910",
"display" : "Xeroderma pigmentosum"
},
{
"code" : "1331",
"display" : "Familial prostate cancer"
},
{
"code" : "1340",
"display" : "Cardio-Facio-Cutaneous (CFC) syndrome"
},
{
"code" : "1359",
"display" : "Carney Complex"
},
{
"code" : "1572",
"display" : "Common variable immune deficiency"
},
{
"code" : "1915",
"display" : "Fetal alcohol syndrome"
},
{
"code" : "2128",
"display" : "Isolated Hemihypertrophy"
},
{
"code" : "2346",
"display" : "Angioosteohypertrophic syndrome"
},
{
"code" : "2442",
"display" : "X-linked lymphoproliferative syndrome"
},
{
"code" : "2678",
"display" : "Neurofibromatosis type 6"
},
{
"code" : "2869",
"display" : "Peutz-Jeghers syndrome"
},
{
"code" : "2909",
"display" : "Rothmund Thomson syndrome"
},
{
"code" : "2929",
"display" : "Juvenile polyposis syndrome"
},
{
"code" : "3261",
"display" : "Autoimmune lymphoproliferative syndrome"
},
{
"code" : "26106",
"display" : "Hereditary diffuse gastric cancer"
},
{
"code" : "29072",
"display" : "Hereditary pheochromocytoma-paraganglioma"
},
{
"code" : "44890",
"display" : "Gastrointestinal stromal tumor"
},
{
"code" : "47044",
"display" : "Hereditary papillary renal cancer syndrome"
},
{
"code" : "77828",
"display" : "Genetic obesity"
},
{
"code" : "93460",
"display" : "Overgrowth syndrome"
},
{
"code" : "97286",
"display" : "Carney-Stratakis Syndrome"
},
{
"code" : "99817",
"display" : "Non-polyposis Turcot syndrome"
},
{
"code" : "99818",
"display" : "Turcot Syndrome with polyposis"
},
{
"code" : "101088",
"display" : "X-linked hyper-IgM syndrome"
},
{
"code" : "141145",
"display" : "Hemifacial hyperplasia"
},
{
"code" : "156207",
"display" : "Macroglossia"
},
{
"code" : "220460",
"display" : "Attenuated familial adenomatous polyposis"
},
{
"code" : "231040",
"display" : "Noonan syndrome with multiple lentigines"
},
{
"code" : "231108",
"display" : "Familial rhabdoid tumor"
},
{
"code" : "251347",
"display" : "Ataxia-telangiectasia-like disorder"
},
{
"code" : "295049",
"display" : "Upper limb Hypertrophy"
},
{
"code" : "295051",
"display" : "Lower limb hypertrophy"
},
{
"code" : "319487",
"display" : "Familial follicular or papillary thyroid cancer"
},
{
"code" : "331223",
"display" : "Hyper IgE Syndrome (HIES)"
},
{
"code" : "357027",
"display" : "Hereditary retinoblastoma"
},
{
"code" : "363700",
"display" : "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion"
},
{
"code" : "404560",
"display" : "Familial atypical multiple mole melanoma syndrome"
},
{
"code" : "423776",
"display" : "Hereditary gastric cancer"
},
{
"code" : "443909",
"display" : "Hereditary nonpolyposis colon cancer"
},
{
"code" : "458830",
"display" : "Rare capillary malformation with associated anomalies"
}
]
},
{
"system" : "http://terminology.hl7.org/CodeSystem/v3-NullFlavor",
"concept" : [
{
"code" : "OTH",
"display" : "Other"
}
]
}
]
}
}
IG © 2021+ PanCareSurPass Project. Package hl7.eu.fhir.pcsp#0.2.0 based on FHIR 4.0.1. Generated 2024-12-11
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.
