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

## CodeSystem: OrphaNet

Official URL: https://www.orpha.net | Version: 1.0.0
Active as of 2026-01-16 | Computable Name: OrphaNet

Orphanet selected codes

This Code system is referenced in the content logical definition of the following value sets:

- OrphaHereditaryPredisposition

This case-sensitive code system `https://www.orpha.net` provides a fragment that includes following codes:

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