BRCA1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome

Preferred Label : BRCA1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome;

NCIt synonyms : Hereditary Breast/Ovarian Cancer (BRCA1, BRCA2); Hereditary Breast and Ovarian Cancer; Familial Breast/Ovarian Cancer (BRCA1, BRCA2); Familial Breast and Ovarian Cancer Syndrome; Hereditary Breast and Ovarian Cancer Syndrome;

NCIt related terms : Breast and Ovarian Cancer; Hereditary Breast and Ovarian Syndrome; Breast and Ovarian Cancer Syndrome;

NCIt definition : An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.;

Details

Origin ID

C8493;

UMLS CUI

C0677776;

Automatic exact mappings (from CISMeF team)
- BRCA1/2-associated hereditary breast and ovarian cancer syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Hereditary breast and ovarian cancer syndrome [ICD-11 Category]
- Hereditary breast and ovarian cancer syndrome [ORDO Disease]
- Hereditary breast and ovarian cancer syndrome (disorder) [SNOMED CT concept]
- hereditary breast and ovarian cancer syndrome [Disease (Nov.)]
- hereditary breast and ovarian cancer syndrome [MeSH Descriptor]
- hereditary breast and ovarian cancer syndrome [MeSH concept]
- hereditary breast ovarian cancer syndrome [DO Concept]
DO Cross reference
- hereditary breast ovarian cancer syndrome [DO Concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary breast and ovarian cancer syndrome [ORDO Disease]
- Hereditary breast and ovarian cancer syndrome [ICD-11 Category]
- Hereditary breast and ovarian cancer syndrome (disorder) [SNOMED CT concept]
- hereditary breast and ovarian cancer syndrome [MeSH concept]
- hereditary breast and ovarian cancer syndrome [MeSH Descriptor]
- hereditary breast and ovarian cancer syndrome [Disease (Nov.)]
- hereditary breast ovarian cancer syndrome [DO Concept]
associated_with_malfunction_of_gene_product
- Breast Cancer Type 1 Susceptibility Protein [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- EWS Authorized Value Terminology [NCIt concept]
- EWS Medical History Table [NCIt concept]
- Operational Ontology for Radiation Oncology Prostate Cancer Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- Deleterious BRCA Gene Mutation [NCIt concept]
disease_may_have_associated_disease
- Female Breast Carcinoma [NCIt concept]
- Ovarian Carcinoma [NCIt concept]
related_to_genetic_biomarker
- BRCA1 Gene [NCIt concept]
- BRCA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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