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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
2983926014 Hereditary neoplastic syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
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

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 Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Costello syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Dyskeratosis congenita Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Beckwith-Wiedemann syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Familial multiple tumor syndrome Is a False Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Multiple endocrine neoplasia, type 2 Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Familial cancer of breast (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Nephroblastoma (disorder) Is a False Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Sotos' syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Fanconi's anemia Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, normal intelligence and immunodeficiency Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Familial multiple polyposis syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Simpson-Golabi-Behmel syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Drash syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Li-Fraumeni syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Bannayan syndrome Is a False Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Cockayne syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Noonan's syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nonpolyposis colon cancer (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Multiple endocrine neoplasia, type 1 Is a False Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Arteriohepatic dysplasia Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Aase syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Rubinstein-Taybi syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Polyostotic fibrous dysplasia of bone Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Werner syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Tuberous sclerosis syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Congenital neutropenia Is a False Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic variegated aneuploidy syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Emberger syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia-like disorder (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibramatosis 3 Is a False Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis 2 Is a False Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis 1 Is a False Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Schöpf-Schulz-Passarge syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Megalencephaly capillary malformation Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Familial nonpolyposis colorectal cancer Is a False Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Aicardi's syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Common variable agammaglobulinaemia Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Langerhans cell histiocytosis - Hashimoto-Pritzker type (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Rothmund-Thomson syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Wiskott-Aldrich syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Tyrosinaemia type I Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare inherited skin cancer syndrome characterised by the coexistence of features typical of both multiple self-healing squamous epithelioma and generalised eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well. Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors. Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Lynch syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Rombo syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Perlman syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
N syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly. Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
RAS-associated autoimmune leukoproliferative disease (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare familial renal cancer syndrome characterized by a predisposition for developing bilateral and multifocal classic type papillary renal cell carcinomas (formerly known as type 1 papillary renal cell carcinoma until the 2022 WHO classification of renal tumors). Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
PTEN hamartoma tumour syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Constitutional mismatch repair deficiency syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Familial renal cell carcinoma (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary primary clear cell renal cell carcinoma (disorder) Is a False Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
BAP1 tumour predisposition syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to OX40 deficiency (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive lymphoproliferative disease (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Gastric adenocarcinoma and proximal polyposis of stomach Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
LMNA-related cardiocutaneous progeria syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Oligodontia and cancer predisposition syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Rhabdoid tumour predisposition syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
X-linked severe congenital neutropenia (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Shwachman syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Kostmann syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant severe congenital neutropaenia Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic polymalformative syndrome with increased risk of developing cancer, with characteristics of a Noonan-like phenotype, including typical dysmorphic facial features (such as high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent occurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity and hypotonia may also be associated. Caused by heterozygous mutation in the CBL gene. Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
B-K mole (nevus) syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Follicular atrophoderma and basal cell epitheliomata Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Multiple self-healing epithelioma of Ferguson-Smith (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
DICER1 syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Multiple endocrine neoplasia, type 2b (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis syndrome Is a False Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Gorlin syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary mixed polyposis syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Peutz-Jeghers syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Autoimmune lymphoproliferative syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Proteus syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary leiomyomatosis and renal cell carcinoma Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
DDX41-related haematologic malignancy predisposition syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare immune dysregulation disease with immunodeficiency characterised by infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal, and viral infections with involvement of the skin, lower respiratory tract, and gastrointestinal tract, eczema, allergies, and inflammatory bowel disease, among others. EBV-related smooth muscle tumours have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells. Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis. Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder) Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare inherited cancer-predisposing syndrome characterised by early-onset hepatocellular carcinoma, genomic instability, and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts, and premature hair greying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes, and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly, and pes planus have also been reported. Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Hereditärer neuroendokriner Tumor des Dünndarms Is a False Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept)
At increased risk of hereditary cancer-predisposing syndrome (finding) Has realization (attribute) True Hereditary cancer-predisposing syndrome Inferred relationship Existential restriction modifier (core metadata concept) 2

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