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FHIR IG Statistics: ValueSet/vs-orpha-predisposition-eu-pcsp

Packagehl7.eu.fhir.pcsp
TypeValueSet
Idvs-orpha-predisposition-eu-pcsp
FHIR VersionR4
Sourcehttp://hl7.eu/fhir/ig/pcsp/http://hl7.eu/fhir/ig/pcsp/0.1.0/ValueSet-vs-orpha-predisposition-eu-pcsp.html
URLhttp://hl7.eu/fhir/ig/pcsp/ValueSet/vs-orpha-predisposition-eu-pcsp
Version0.1.0
Statusactive
Date2023-01-26T09:50:21+01:00
NameOrphaHereditaryPredisposition
TitleHereditary Predispositions (Orphacode)
Realmeu
Authorityhl7
DescriptionHereditary Predispositions (Orphacode)

Resources that use this resource

StructureDefinition
Observation-predisposition-eu-pcspObservation: Hereditary Predisposition

Resources that this resource uses

CodeSystem
v3-NullFlavorNullFlavor
v3-NullFlavorNullFlavor

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": "<!-- snip (see above) -->"
  },
  "url": "http://hl7.eu/fhir/ig/pcsp/ValueSet/vs-orpha-predisposition-eu-pcsp",
  "version": "0.1.0",
  "name": "OrphaHereditaryPredisposition",
  "title": "Hereditary Predispositions (Orphacode)",
  "status": "active",
  "experimental": false,
  "date": "2023-01-26T09:50:21+01:00",
  "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"
          }
        ]
      }
    ]
  }
}