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 2026-01-16 | Computable Name: OrphaHereditaryPredisposition

Hereditary Predispositions (Orphacode)

References

- Observation: Hereditary Predisposition

### 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

  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

- Include these codes as defined in `http://terminology.hl7.org/CodeSystem/v3-NullFlavor` version 📦3.0.0

  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.

### Expansion

Expansion performed internally based on:

- codesystem NullFlavor v3.0.0 (CodeSystem)
- codesystem OrphaNet v1.0.0 (CodeSystem)

This value set contains 78 concepts

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

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