PanCareSurPass Project HL7 FHIR Implementation Guide
0.2.0 - CI Build 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 0.2.0 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: 0.2.0
Draft as of 2025-09-03 Computable Name: OrphaNet

Orphanet selected codes

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

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

CodeDisplay
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