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