PanCareSurPass Project HL7 FHIR Implementation Guide
1.0.0 - release 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 1.0.0 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

ValueSet: Hereditary Predispositions (Orphacode)

Official URL: http://hl7.eu/fhir/ig/pcsp/ValueSet/vs-orpha-predisposition-eu-pcsp Version: 1.0.0
Active as of 2025-10-16 Computable Name: OrphaHereditaryPredisposition

Hereditary Predispositions (Orphacode)

References

Logical Definition (CLD)

This value set includes codes based on the following rules:

  • Include these codes as defined in https://www.orpha.net version 📦1.0.0
    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 version 📦3.0.0
    CodeDisplayDefinition
    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.

 

Expansion

This value set contains 78 concepts

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


Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code