Hereditary cancer-predisposing syndrome 699346009 SNOMED CT code SNOMED code 699346009 name Hereditary cancer-predisposing syndrome status active date introduced 2014-01-31 fully specified name(s) Hereditary cancer-predisposing syndrome (disorder) synonyms Hereditary neoplastic syndrome Hereditary cancer-predisposing syndrome parents Hereditary disease 32895009 children Aase syndrome 71988008 Aicardi's syndrome 80651009 Arteriohepatic dysplasia 31742004 Ataxia-telangiectasia syndrome 68504005 Ataxia-telangiectasia-like disorder 700058006 Autoimmune lymphoproliferative syndrome 702444009 Autoimmune lymphoproliferative syndrome with recurrent viral infection 722290008 Autosomal dominant severe congenital neutropenia 770947009 Autosomal recessive lymphoproliferative disease 771309000 B-K mole (nevus) syndrome 254819008 BAP1 tumor predisposition syndrome 765057007 Beckwith-Wiedemann syndrome 81780002 Birt Hogg Dubé syndrome 1263460007 Carney Stratakis syndrome 722377004 Cockayne syndrome 21086008 Combined immunodeficiency due to CARMIL2 deficiency 1186712009 Combined immunodeficiency due to CD70 deficiency 1186715006 Combined immunodeficiency due to ITK deficiency 1186714005 Combined immunodeficiency due to OX40 deficiency 766879006 Common variable agammaglobulinemia 23238000 Constitutional mismatch repair deficiency syndrome 764946008 Costello syndrome 309776008 DDX41-related hematologic malignancy predisposition syndrome 1172625004 Dianzani autoimmune lymphoproliferative disease 721093000 Diaphyseal medullary stenosis with bone malignancy 389216001 DICER1 syndrome 702411003 Drash syndrome 236385009 Dyskeratosis congenita 74911008 Emberger syndrome 700057001 Familial cancer of breast 254843006 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome 782823001 Familial multinodular goiter syndrome 1279836009 Familial multiple polyposis syndrome 72900001 Familial nonpolyposis colorectal cancer 700064004 removed: 2015-01-31 Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome 716657000 Familial platelet syndrome with predisposition to acute myelogenous leukemia 725034002 Familial renal cell carcinoma 717736007 Fanconi's anemia 30575002 Follicular atrophoderma and basal cell epitheliomata 254820002 Gastric adenocarcinoma and proximal polyposis of stomach 771474005 Gorlin syndrome 69408002 Hereditary diffuse carcinoma of stomach 716859000 Hereditary keratoacanthoma 716774008 Hereditary leiomyomatosis and renal cell carcinoma 1162799008 Hereditary malignant neuroendocrine neoplasm of small intestine 1222643003 Hereditary mixed polyposis syndrome 787410005 Hereditary papillary renal cell carcinoma 715561008 HNPCC - hereditary nonpolyposis colon cancer 315058005 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation 766707003 Kostmann syndrome 770942003 Langerhans cell histiocytosis - Hashimoto-Pritzker type 404160007 Li-Fraumeni syndrome 428850001 LIG4 syndrome 724177005 LMNA-related cardiocutaneous progeria syndrome 773426004 Lynch syndrome 716318002 Megalencephaly capillary malformation 700063005 Melanoma and neural system tumor syndrome 717968005 Microcephaly, normal intelligence and immunodeficiency 234638009 MITF-related melanoma and renal cell carcinoma predisposition syndrome 770896003 Mosaic variegated aneuploidy syndrome 700056005 Multiple endocrine neoplasia, type 1 30664006 Multiple endocrine neoplasia, type 2 61808009 Multiple endocrine neoplasia, type 3 61530001 Multiple self-healing epithelioma of Ferguson-Smith 254659009 N syndrome 723410002 Neurofibramatosis 3 700059003 removed: 2015-01-31 Neurofibromatosis 1 700061007 removed: 2014-07-31 Neurofibromatosis 2 700060008 removed: 2015-01-31 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia 783143001 Noonan's syndrome 205824006 Oligodontia and cancer predisposition syndrome 773345007 Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome 722202006 Perlman syndrome 722231005 Peutz-Jeghers syndrome 54411001 Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome 1230005002 Polyostotic fibrous dysplasia of bone 36517007 Progeroid features, hepatocellular carcinoma predisposition syndrome 1216939003 Proteus syndrome 23150001 PTEN hamartoma tumor syndrome 722859001 RAS-associated autoimmune leukoproliferative disease 723508002 Rhabdoid tumor predisposition syndrome 772130002 Rombo syndrome 721904001 Rothmund-Thomson syndrome 69093006 Rubinstein-Taybi syndrome 45582004 Schinzel-Giedion syndrome 18899000 Schöpf-Schulz-Passarge syndrome 700062000 Shwachman syndrome 89454001 Simpson-Golabi-Behmel syndrome 439143004 Sotos' syndrome 75968004 Tuberous sclerosis syndrome 7199000 Tyrosinemia type I 410056006 Von Hippel-Lindau syndrome 46659004 Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome 1186725001 Werner syndrome 51626007 Wiskott-Aldrich syndrome 36070007 X-linked severe congenital neutropenia 718882006 Xeroderma pigmentosum 44600005 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 782964007 32895009 699346009 ancestors sorted most to least specific
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