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
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
This value set includes codes based on the following rules:
https://www.orpha.net
version 📦1.0.0Code | 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
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 performed internally based on:
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 |