| 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 | 2024-09-05T08:18:13+00:00 |
| Name | OrphaHereditaryPredisposition |
| Title | Hereditary Predispositions (Orphacode) |
| Experimental | False |
| Realm | eu |
| Authority | hl7 |
| Description | Hereditary Predispositions (Orphacode) |
| StructureDefinition | |
Observation-predisposition-eu-pcsp  | Observation: Hereditary Predisposition |
| CodeSystem | |
| http://terminology.hl7.org/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" : "<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>"
},
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"version" : "0.2.0",
"name" : "OrphaHereditaryPredisposition",
"title" : "Hereditary Predispositions (Orphacode)",
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"date" : "2024-09-05T08:18:13+00:00",
"publisher" : "PanCareSurPass Project",
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"description" : "Hereditary Predispositions (Orphacode)",
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"system" : "https://www.orpha.net",
"concept" : [
{
"code" : "84",
"display" : "Fanconi anemia"
},
{
"code" : "100",
"display" : "Ataxia telangiectasia"
},
{
"code" : "109",
"display" : "Bannayan-Riley-Ruvalcaba syndrome"
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{
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"code" : "201",
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{
"code" : "321",
"display" : "Multiple osteochondromas"
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{
"code" : "347",
"display" : "Frasier syndrome"
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{
"code" : "373",
"display" : "Simpson-Golabi-Behmel syndrome"
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{
"code" : "377",
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{
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"display" : "Li-Fraumeni Syndrome"
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{
"code" : "587",
"display" : "Muir Torre syndrome"
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{
"code" : "618",
"display" : "Familial Melanoma"
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{
"code" : "637",
"display" : "Neurofibromatosis type 2"
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{
"code" : "647",
"display" : "Nijmegen breakage syndrome"
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{
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"display" : "Noonan syndrome"
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{
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"display" : "Multiple endocrine neoplasia type 1"
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{
"code" : "653",
"display" : "Multiple endocrine neoplasia type 2"
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{
"code" : "654",
"display" : "Nephroblastoma"
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{
"code" : "660",
"display" : "Omphalocele"
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{
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"display" : "Hereditary chronic pancreatitis"
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{
"code" : "733",
"display" : "Familial adenomatous polyposis"
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{
"code" : "744",
"display" : "Proteus syndrome"
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{
"code" : "805",
"display" : "Tuberous sclerosis complex"
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{
"code" : "811",
"display" : "Shwachman-Diamond syndrome"
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{
"code" : "821",
"display" : "Sotos syndrome"
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{
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"display" : "Down syndrome"
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{
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"display" : "Turner syndrome"
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{
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{
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"display" : "WAGR syndrome"
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{
"code" : "902",
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{
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"display" : "Wiskott-Aldrich syndrome"
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{
"code" : "910",
"display" : "Xeroderma pigmentosum"
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{
"code" : "1331",
"display" : "Familial prostate cancer"
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{
"code" : "1340",
"display" : "Cardio-Facio-Cutaneous (CFC) syndrome"
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{
"code" : "1359",
"display" : "Carney Complex"
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{
"code" : "1572",
"display" : "Common variable immune deficiency"
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{
"code" : "1915",
"display" : "Fetal alcohol syndrome"
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{
"code" : "2128",
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{
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"display" : "Angioosteohypertrophic syndrome"
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{
"code" : "2442",
"display" : "X-linked lymphoproliferative syndrome"
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{
"code" : "2678",
"display" : "Neurofibromatosis type 6"
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{
"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"
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{
"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"
}
]
},
{
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{
"code" : "OTH",
"display" : "Other"
}
]
}
]
}
}
XIG built as of ??metadata-date??. Found ??metadata-resources?? resources in ??metadata-packages?? packages.