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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
1084151000241111 syndrome familial avec prédisposition aux cancers fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1084161000241114 syndrome néoplasique héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1085501000241118 syndrome héréditaire de prédisposition aux cancers fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

142 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 True 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 3 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 (disorder) Is a True 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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