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Resource ValueSet/FHIR Server from package hl7.eu.fhir.pcsp#current (63 ms)

Package hl7.eu.fhir.pcsp
Type ValueSet
Id Id
FHIR Version R4
Source http://hl7.eu/fhir/ig/pcsp/https://build.fhir.org/ig/hl7-eu/pcsp/ValueSet-vs-orpha-predisposition-eu-pcsp.html
Url http://hl7.eu/fhir/ig/pcsp/ValueSet/vs-orpha-predisposition-eu-pcsp
Version 0.2.0
Status draft
Date 2024-05-27T14:19:02+00:00
Name OrphaHereditaryPredisposition
Title Hereditary Predispositions (Orphacode)
Experimental False
Realm eu
Authority hl7
Description Hereditary Predispositions (Orphacode)

Resources that use this resource

StructureDefinition
Observation-predisposition-eu-pcsp Observation: Hereditary Predisposition

Resources that this resource uses

CodeSystem
http://terminology.hl7.org/CodeSystem/v3-NullFlavor NullFlavor


Narrative

Note: links and images are rebased to the (stated) source

This value set includes codes based on the following rules:

  • Include these codes as defined in https://www.orpha.net
    CodeDisplay
    84Fanconi anemia
    100Ataxia telangiectasia
    109Bannayan-Riley-Ruvalcaba syndrome
    116Beckwith-Wiedemann syndrome
    122Birt-Hogg-Dube´ syndrome
    125Bloom syndrome
    144Lynch Syndrome
    145Hereditary breast and ovarian cancer syndrome
    201Cowden Syndrome
    321Multiple osteochondromas
    347Frasier syndrome
    373Simpson-Golabi-Behmel syndrome
    377Gorlin syndrome
    500LEOPARD syndrome
    523Hereditary leiomyomatosis and renal cell cancer
    524Li-Fraumeni Syndrome
    587Muir Torre syndrome
    618Familial Melanoma
    637Neurofibromatosis type 2
    647Nijmegen breakage syndrome
    648Noonan syndrome
    652Multiple endocrine neoplasia type 1
    653Multiple endocrine neoplasia type 2
    654Nephroblastoma
    660Omphalocele
    676Hereditary chronic pancreatitis
    733Familial adenomatous polyposis
    744Proteus syndrome
    805Tuberous sclerosis complex
    811Shwachman-Diamond syndrome
    821Sotos syndrome
    870Down syndrome
    881Turner syndrome
    892von Hippel-Lindau syndrome
    893WAGR syndrome
    902Werner syndrome
    906Wiskott-Aldrich syndrome
    910Xeroderma pigmentosum
    1331Familial prostate cancer
    1340Cardio-Facio-Cutaneous (CFC) syndrome
    1359Carney Complex
    1572Common variable immune deficiency
    1915Fetal alcohol syndrome
    2128Isolated Hemihypertrophy
    2346Angioosteohypertrophic syndrome
    2442X-linked lymphoproliferative syndrome
    2678Neurofibromatosis type 6
    2869Peutz-Jeghers syndrome
    2909Rothmund Thomson syndrome
    2929Juvenile polyposis syndrome
    3261Autoimmune lymphoproliferative syndrome
    26106Hereditary diffuse gastric cancer
    29072Hereditary pheochromocytoma-paraganglioma
    44890Gastrointestinal stromal tumor
    47044Hereditary papillary renal cancer syndrome
    77828Genetic obesity
    93460Overgrowth syndrome
    97286Carney-Stratakis Syndrome
    99817Non-polyposis Turcot syndrome
    99818Turcot Syndrome with polyposis
    101088X-linked hyper-IgM syndrome
    141145Hemifacial hyperplasia
    156207Macroglossia
    220460Attenuated familial adenomatous polyposis
    231040Noonan syndrome with multiple lentigines
    231108Familial rhabdoid tumor
    251347Ataxia-telangiectasia-like disorder
    295049Upper limb Hypertrophy
    295051Lower limb hypertrophy
    319487Familial follicular or papillary thyroid cancer
    331223Hyper IgE Syndrome (HIES)
    357027Hereditary retinoblastoma
    363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
    404560Familial atypical multiple mole melanoma syndrome
    423776Hereditary gastric cancer
    443909Hereditary nonpolyposis colon cancer
    458830Rare capillary malformation with associated anomalies
  • Include these codes as defined in http://terminology.hl7.org/CodeSystem/v3-NullFlavor
    CodeDisplayDefinition
    OTHOther**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).

    **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.

    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.

Source

{
  "resourceType" : "ValueSet",
  "id" : "vs-orpha-predisposition-eu-pcsp",
  "text" : {
    "status" : "extensions",
    "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-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/5.5.0/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/5.5.0/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" : "2024-05-27T14:19:02+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"
          }
        ]
      }
    ]
  }
}

XIG built as of ??metadata-date??. Found ??metadata-resources?? resources in ??metadata-packages?? packages.