Hereditary cancer-predisposing syndrome (disorder)
| Code | 699346009 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20140131 |
32895009Hereditary disease
disorder
1367882008AXIN2-related attenuated familial adenomatous polyposis
disorder
71988008Aase syndrome
disorder
80651009Aicardi's syndrome
disorder
31742004Arteriohepatic dysplasia
disorder
68504005Ataxia-telangiectasia syndrome
disorder
700058006Ataxia-telangiectasia-like disorder
disorder
702444009Autoimmune lymphoproliferative syndrome
disorder
722290008Autoimmune lymphoproliferative syndrome with recurrent viral infection
disorder
771309000Autosomal recessive lymphoproliferative disease
disorder
254819008B-K mole (nevus) syndrome
disorder
765057007BAP1 tumour predisposition syndrome
disorder
81780002Beckwith-Wiedemann syndrome
disorder
1263460007Birt Hogg Dubé syndrome
disorder
722377004Carney Stratakis syndrome
disorder
21086008Cockayne syndrome
disorder
1186712009Combined immunodeficiency due to CARMIL2 deficiency
disorder
1186715006Combined immunodeficiency due to CD70 deficiency
disorder
1186714005Combined immunodeficiency due to ITK deficiency
disorder
766879006Combined immunodeficiency due to OX40 deficiency
disorder
23238000Common variable agammaglobulinaemia
disorder
764946008Constitutional mismatch repair deficiency syndrome
disorder
309776008Costello syndrome
disorder
1172625004DDX41-related haematologic malignancy predisposition syndrome
disorder
702411003DICER1 syndrome
disorder
721093000Dianzani autoimmune lymphoproliferative disease
disorder
389216001Diaphyseal medullary stenosis with bone malignancy
disorder
236385009Drash syndrome
disorder
74911008Dyskeratosis congenita
disorder
700057001Emberger syndrome
disorder
72900001Familial adenomatous polyposis
disorder
254843006Familial cancer of breast
disorder
782823001Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
disorder
1279836009Familial multinodular goitre syndrome
disorder
716657000Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome
disorder
725034002Familial platelet syndrome with predisposition to acute myelogenous leukaemia
disorder
717736007Familial renal cell carcinoma
disorder
30575002Fanconi's anaemia
disorder
254820002Follicular atrophoderma and basal cell epitheliomata
disorder
771474005Gastric adenocarcinoma and proximal polyposis of stomach
disorder
69408002Gorlin syndrome
disorder
315058005HNPCC - hereditary nonpolyposis colon cancer
disorder
716859000Hereditary diffuse carcinoma of stomach
disorder
716774008Hereditary keratoacanthoma
disorder
1162799008Hereditary leiomyomatosis and renal cell carcinoma
disorder
787410005Hereditary mixed polyposis syndrome
disorder
715561008Hereditary papillary renal cell carcinoma
disorder
1288023007Hereditary well-differentiated neuroendocrine tumour of small intestine
disorder
766707003Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation
disorder
1367660004Isolated familial medullary thyroid carcinoma
disorder
770942003Kostmann syndrome
disorder
724177005LIG4 syndrome
disorder
773426004LMNA-related cardiocutaneous progeria syndrome
disorder
404160007Langerhans cell histiocytosis - Hashimoto-Pritzker type
disorder
428850001Li-Fraumeni syndrome
disorder
716318002Lynch syndrome
disorder
770896003MITF-related melanoma and renal cell carcinoma predisposition syndrome
disorder
700063005Megalencephaly capillary malformation
disorder
717968005Melanoma and neural system tumour syndrome
disorder
234638009Microcephaly, normal intelligence and immunodeficiency
disorder
700056005Mosaic variegated aneuploidy syndrome
disorder
61808009Multiple endocrine neoplasia, type 2
disorder
61530001Multiple endocrine neoplasia, type 2b
disorder
254659009Multiple self-healing epithelioma of Ferguson-Smith
disorder
723410002N syndrome
disorder
783143001Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia
disorder
205824006Noonan's syndrome
disorder
722859001PTEN hamartoma tumour syndrome
disorder
111030006Palmoplantar keratoderma oesophageal carcinoma syndrome
disorder
722202006Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome
disorder
722231005Perlman syndrome
disorder
54411001Peutz-Jeghers syndrome
disorder
1230005002Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome
disorder
36517007Polyostotic fibrous dysplasia of bone
disorder
1216939003Progeroid features, hepatocellular carcinoma predisposition syndrome
disorder
23150001Proteus syndrome
disorder
723508002RAS-associated autoimmune leucoproliferative disease
disorder
772130002Rhabdoid tumour predisposition syndrome
disorder
721904001Rombo syndrome
disorder
69093006Rothmund-Thomson syndrome
disorder
45582004Rubinstein-Taybi syndrome
disorder
18899000Schinzel-Giedion syndrome
disorder
700062000Schöpf-Schulz-Passarge syndrome
disorder
89454001Shwachman syndrome
disorder
439143004Simpson-Golabi-Behmel syndrome
disorder
75968004Sotos' syndrome
disorder
7199000Tuberous sclerosis syndrome
disorder
410056006Tyrosinaemia type 1
disorder
46659004Von Hippel-Lindau syndrome
disorder
1186725001Warts, immunodeficiency, lymphoedema, anogenital dysplasia syndrome
disorder
51626007Werner syndrome
disorder
36070007Wiskott-Aldrich syndrome
disorder
718882006X-linked severe congenital neutropenia
disorder
44600005Xeroderma pigmentosum
disorder