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699346009: Hereditary cancer-predisposing syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2983926014 Hereditary neoplastic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2988878014 Hereditary cancer-predisposing syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2988939011 Hereditary cancer-predisposing syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

141 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary cancer-predisposing syndrome Is a Hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Costello syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Dyskeratosis congenita Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Beckwith-Wiedemann syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Familial multiple tumor syndrome Is a False Hereditary cancer-predisposing syndrome Inferred relationship Some
Von Hippel-Lindau syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Multiple endocrine neoplasia, type 2 Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Familial cancer of breast Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Xeroderma pigmentosum Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Nephroblastoma Is a False Hereditary cancer-predisposing syndrome Inferred relationship Some
Sotos' syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Fanconi's anemia Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Microcephaly, normal intelligence and immunodeficiency Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Familial multiple polyposis syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Simpson-Golabi-Behmel syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Drash syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Li-Fraumeni syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Bannayan syndrome Is a False Hereditary cancer-predisposing syndrome Inferred relationship Some
Cockayne syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Noonan's syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
HNPCC - hereditary nonpolyposis colon cancer Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Multiple endocrine neoplasia, type 1 Is a False Hereditary cancer-predisposing syndrome Inferred relationship Some
Arteriohepatic dysplasia Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Ataxia-telangiectasia syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Aase syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Rubinstein-Taybi syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Polyostotic fibrous dysplasia of bone Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Schinzel-Giedion syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Werner syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Tuberous sclerosis syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Congenital neutropenia Is a False Hereditary cancer-predisposing syndrome Inferred relationship Some
Mosaic variegated aneuploidy syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Emberger syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Ataxia-telangiectasia-like disorder (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Neurofibramatosis 3 Is a False Hereditary cancer-predisposing syndrome Inferred relationship Some
Neurofibromatosis 2 Is a False Hereditary cancer-predisposing syndrome Inferred relationship Some
Neurofibromatosis 1 Is a False Hereditary cancer-predisposing syndrome Inferred relationship Some
Schöpf-Schulz-Passarge syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Megalencephaly capillary malformation Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Familial nonpolyposis colorectal cancer Is a False Hereditary cancer-predisposing syndrome Inferred relationship Some
Aicardi's syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Common variable agammaglobulinemia Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Langerhans cell histiocytosis - Hashimoto-Pritzker type (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Rothmund-Thomson syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Wiskott-Aldrich syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Tyrosinemia type I (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Hereditary keratoacanthoma (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Hereditary diffuse carcinoma of stomach (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Melanoma and neural system tumour syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Lynch syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Rombo syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Perlman syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
N syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Dianzani autoimmune lymphoproliferative disease (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
RAS-associated autoimmune leukoproliferative disease (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Ligase 4 syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Hereditary papillary renal cell carcinoma (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
PTEN hamartoma tumor syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Constitutional mismatch repair deficiency syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Familial renal cell carcinoma (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Hereditary primary clear cell renal cell carcinoma (disorder) Is a False Hereditary cancer-predisposing syndrome Inferred relationship Some
BAP1 tumor predisposition syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Autosomal recessive lymphoproliferative disease (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Gastric adenocarcinoma and proximal polyposis of stomach (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
LMNA-related cardiocutaneous progeria syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Oligodontia and cancer predisposition syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Rhabdoid tumour predisposition syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
X-linked severe congenital neutropenia (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Shwachman syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Kostmann syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Autosomal dominant severe congenital neutropaenia Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
B-K mole (nevus) syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Follicular atrophoderma and basal cell epitheliomata Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Multiple self-healing epithelioma of Ferguson-Smith Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
DICER1 syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Multiple endocrine neoplasia, type 2b Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Neurofibromatosis syndrome Is a False Hereditary cancer-predisposing syndrome Inferred relationship Some
Gorlin syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Hereditary mixed polyposis syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Peutz-Jeghers syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Autoimmune lymphoproliferative syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Proteus syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Hereditary leiomyomatosis and renal cell carcinoma (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
DDX41-related hematologic malignancy predisposition syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Combined immunodeficiency due to CARMIL2 deficiency Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Combined immunodeficiency due to ITK deficiency Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Combined immunodeficiency due to CD70 deficiency (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Progeroid features, hepatocellular carcinoma predisposition syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
Hereditary malignant neuroendocrine neoplasm of small intestine Is a False Hereditary cancer-predisposing syndrome Inferred relationship Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Some
At increased risk of hereditary cancer-predisposing syndrome (finding) Has realization (attribute) True Hereditary cancer-predisposing syndrome Inferred relationship Some 2

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