| Package | hl7.eu.fhir.pcsp |
| Resource Type | ValueSet |
| Id | vs-orpha-predisposition-eu-pcsp |
| 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 | 2025-08-02T17:28:17+00:00 |
| Name | OrphaHereditaryPredisposition |
| Title | Hereditary Predispositions (Orphacode) |
| Realm | eu |
| Authority | hl7 |
| Description | Hereditary Predispositions (Orphacode) |
| StructureDefinition | |
| Observation-predisposition-eu-pcsp | Observation: Hereditary Predisposition |
| CodeSystem | |
| v3-NullFlavor | NullFlavor |
Note: links and images are rebased to the (stated) source
Generated Narrative: ValueSet vs-orpha-predisposition-eu-pcsp
This value set includes codes based on the following rules:
FHIRhttps://www.orpha.net| Code | Display |
| 84 | Fanconi anemia |
| 100 | Ataxia telangiectasia |
| 109 | Bannayan-Riley-Ruvalcaba syndrome |
| 116 | Beckwith-Wiedemann syndrome |
| 122 | Birt-Hogg-Dube´ syndrome |
| 125 | Bloom syndrome |
| 144 | Lynch Syndrome |
| 145 | Hereditary breast and ovarian cancer syndrome |
| 201 | Cowden Syndrome |
| 321 | Multiple osteochondromas |
| 347 | Frasier syndrome |
| 373 | Simpson-Golabi-Behmel syndrome |
| 377 | Gorlin syndrome |
| 500 | LEOPARD syndrome |
| 523 | Hereditary leiomyomatosis and renal cell cancer |
| 524 | Li-Fraumeni Syndrome |
| 587 | Muir Torre syndrome |
| 618 | Familial Melanoma |
| 637 | Neurofibromatosis type 2 |
| 647 | Nijmegen breakage syndrome |
| 648 | Noonan syndrome |
| 652 | Multiple endocrine neoplasia type 1 |
| 653 | Multiple endocrine neoplasia type 2 |
| 654 | Nephroblastoma |
| 660 | Omphalocele |
| 676 | Hereditary chronic pancreatitis |
| 733 | Familial adenomatous polyposis |
| 744 | Proteus syndrome |
| 805 | Tuberous sclerosis complex |
| 811 | Shwachman-Diamond syndrome |
| 821 | Sotos syndrome |
| 870 | Down syndrome |
| 881 | Turner syndrome |
| 892 | von Hippel-Lindau syndrome |
| 893 | WAGR syndrome |
| 902 | Werner syndrome |
| 906 | Wiskott-Aldrich syndrome |
| 910 | Xeroderma pigmentosum |
| 1331 | Familial prostate cancer |
| 1340 | Cardio-Facio-Cutaneous (CFC) syndrome |
| 1359 | Carney Complex |
| 1572 | Common variable immune deficiency |
| 1915 | Fetal alcohol syndrome |
| 2128 | Isolated Hemihypertrophy |
| 2346 | Angioosteohypertrophic syndrome |
| 2442 | X-linked lymphoproliferative syndrome |
| 2678 | Neurofibromatosis type 6 |
| 2869 | Peutz-Jeghers syndrome |
| 2909 | Rothmund Thomson syndrome |
| 2929 | Juvenile polyposis syndrome |
| 3261 | Autoimmune lymphoproliferative syndrome |
| 26106 | Hereditary diffuse gastric cancer |
| 29072 | Hereditary pheochromocytoma-paraganglioma |
| 44890 | Gastrointestinal stromal tumor |
| 47044 | Hereditary papillary renal cancer syndrome |
| 77828 | Genetic obesity |
| 93460 | Overgrowth syndrome |
| 97286 | Carney-Stratakis Syndrome |
| 99817 | Non-polyposis Turcot syndrome |
| 99818 | Turcot Syndrome with polyposis |
| 101088 | X-linked hyper-IgM syndrome |
| 141145 | Hemifacial hyperplasia |
| 156207 | Macroglossia |
| 220460 | Attenuated familial adenomatous polyposis |
| 231040 | Noonan syndrome with multiple lentigines |
| 231108 | Familial rhabdoid tumor |
| 251347 | Ataxia-telangiectasia-like disorder |
| 295049 | Upper limb Hypertrophy |
| 295051 | Lower limb hypertrophy |
| 319487 | Familial follicular or papillary thyroid cancer |
| 331223 | Hyper IgE Syndrome (HIES) |
| 357027 | Hereditary retinoblastoma |
| 363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion |
| 404560 | Familial atypical multiple mole melanoma syndrome |
| 423776 | Hereditary gastric cancer |
| 443909 | Hereditary nonpolyposis colon cancer |
| 458830 | Rare capillary malformation with associated anomalies |
http://terminology.hl7.org/CodeSystem/v3-NullFlavor| Code | Display | Definition |
| OTH | Other | **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. |
{
"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": "0.2.0",
"name": "OrphaHereditaryPredisposition",
"title": "Hereditary Predispositions (Orphacode)",
"status": "draft",
"experimental": false,
"date": "2025-08-02T17:28:17+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/"
}
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}
],
"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"
}
]
}
]
}
}