|
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 |