Cowden Syndrome

Preferred Label : Cowden Syndrome;

NCIt synonyms : Cowden's Disease; Ruvalcaba-Myhre-Smith Syndrome;

NCIt related terms : multiple hamartoma syndrome; Cowden disease;

NCIt definition : An autosomal dominant hereditary syndrome characterized by a variety of hamartomas and neoplasms including verrucous skin lesions, fibromas of the oral cavity, facial trichilemmomas, hamartomatous colonic polyps, thyroid neoplasms, breast cancer, and dysplastic gangliocytomas of the cerebellum.;

Alternative definition : NCI-GLOSS: An inherited disorder marked by the formation of many noncancerous growths called hamartomas. These growths occur in the skin, breast, thyroid, colon, intestines, and inside of the mouth. Patients with Cowden syndrome are at increased risk of certain types of cancer, including breast and thyroid.;

Codes from synonyms : CDR0000641941; CDR0000641943; CDR0000641942;

Details

Origin ID

C3076;

UMLS CUI

C0018553;

Automatic exact mappings (from CISMeF team)
- Bannayan-Riley-Ruvalcaba syndrome [DO Concept]
Currated CISMeF NLP mapping
- Cowden disease [OMIM phenotypic series]
- Cowden syndrome [PASCAL descriptor]
- Cowden syndrome [DO Concept]
- Cowden syndrome [ICD-11 More detail]
- Cowden syndrome [ORDO Disease]
- Cowden syndrome [MedDRA LLT]
- Cowden syndrome (disorder) [SNOMED CT concept]
- Cowden's disease [MedDRA Preferred Term]
- Multiple hamartoma syndrome [MedDRA LLT]
- cowden syndrome [SNOMED Notion]
- hamartoma syndrome, multiple [MeSH Descriptor]
- hamartoma syndrome, multiple [MeSH concept]
- multiple hamartoma syndrome [Disease (Nov.)]
DO Cross reference
- Cowden syndrome [DO Concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Cowden syndrome [ORDO Disease]
- Cowden syndrome [MedDRA LLT]
- Cowden syndrome (disorder) [SNOMED CT concept]
- Cowden syndrome 1 [OMIM Phenotype]
- Cowden's disease [MedDRA Preferred Term]
- Multiple hamartoma syndrome [MedDRA LLT]
- cowden syndrome [SNOMED Notion]
- hamartoma syndrome, multiple [MeSH concept]
- hamartoma syndrome, multiple [MeSH Descriptor]
- multiple hamartoma syndrome [Disease (Nov.)]
Validated automatic mappings to BTNT
- Cowden syndrome 1 [OMIM Phenotype]
associated_with_malfunction_of_gene_product
- Bone Morphogenetic Protein Receptor Type-1A [NCIt concept]
- Phosphatidylinositol 3,4,5-Trisphosphate 3-Phosphatase and Dual-Specificity Protein Phosphatase PTEN [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
disease_has_associated_disease
- Hamartoma [NCIt concept]
disease_has_associated_gene
- BMPR1A Gene [NCIt concept]
- BMPR1A wt Allele [NCIt concept]
- MIR19A Gene [NCIt concept]
- MIR19A wt Allele [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- PTEN Gene Mutation [NCIt concept]
disease_mapped_to_gene
- PTEN Gene [NCIt concept]
disease_may_have_associated_disease
- Breast Carcinoma [NCIt concept]
- Breast Fibrocystic Change [NCIt concept]
- Colorectal Cowden-Associated Polyp [NCIt concept]
- Differentiated Thyroid Gland Carcinoma [NCIt concept]
- Dysplastic Cerebellar Gangliocytoma [NCIt concept]
- Endometrial Carcinoma [NCIt concept]
- Fibroma [NCIt concept]
- Gastric Hamartomatous Polyp [NCIt concept]
- Lipoma [NCIt concept]
- Macrocephaly [NCIt concept]
- Polyposis [NCIt concept]
- Thyroid Gland Follicular Adenoma [NCIt concept]
- Trichilemmoma [NCIt concept]
- Uterine Corpus Leiomyoma [NCIt concept]
- Vascular Disorder [NCIt concept]
related_to_genetic_biomarker
- PTEN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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