hamartoma syndrome, multiple

Preferred Label : hamartoma syndrome, multiple;

MeSH definition : A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.;

MeSH synonym : cowden's disease; multiple hamartoma syndrome; cowden disease; cowden syndrome; cowdens disease; cowden's syndrome; cowdens syndrome; hamartoma syndromes, multiple; multiple hamartoma syndromes;

CISMeF synonym : disease, cowden; disease, cowden's; disease, Lhermitte-Duclos; syndrome, Bannayan-Riley-Ruvalcaba; syndrome, Bannayan-Zonana; syndrome, cowden; syndrome, cowden's; syndrome, multiple hamartoma; syndrome, Myhre-Riley-Smith; syndrome, Riley-Smith; syndrome, ruvalcaba; syndrome, Ruvalcaba-Myhre-Smith; syndromes, multiple hamartoma;

Related MeSH term : Lhermitte-Duclos disease; Bannayan-Riley-Ruvalcaba Syndrome; PTEN hamartoma tumor syndrome; Lhermitte Duclos Disease; Dysplastic Gangliocytoma of Cerebellum; Cerebellum Dysplastic Gangliocytoma; Cerebellum Dysplastic Gangliocytomas; Dysplastic Gangliocytoma of the Cerebellum; Bannayan Riley Ruvalcaba Syndrome; Macrocephaly, Multiple Lipomas, and Hemangiomata; Macrocephaly, Pseudopapilledema, and Multiple Hemangiomas; Ruvalcaba-Myhre Syndrome; Myhre-Riley-Smith Syndrome; Myhre Riley Smith Syndrome; Riley-Smith Syndrome; Riley Smith Syndrome; Ruvalcaba-Myhre-Smith Syndrome; Ruvalcaba Myhre Smith Syndrome; Bannayan-Ruvalcaba-Riley Syndrome; Bannayan-Zonana Syndrome; Bannayan Zonana Syndrome; Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata;

Wikipedia link : https://en.wikipedia.org/wiki/Cowden's disease;

Details

Origin ID

D006223;

UMLS CUI

C0018553;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Bannayan syndrome (disorder) [SNOMED CT concept]
- Bannayan-Riley-Ruvalcaba Syndrome [NCIt concept]
- Bannayan-Riley-Ruvalcaba syndrome [PASCAL descriptor]
- Bannayan-Riley-Ruvalcaba syndrome [DO Concept]
- Bannayan-Riley-Ruvalcaba syndrome [ICD-11 More detail]
- Bannayan-Riley-Ruvalcaba syndrome [MedDRA Preferred Term]
- Bannayan-Riley-Ruvalcaba syndrome [ORDO Disease]
- Bannayan-riley-ruvalcaba syndrome [OMIM Phenotype]
- Dysplastic Cerebellar Gangliocytoma [NCIt concept]
- Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos) [ICD-11 Extension code]
- Dysplastic gangliocytoma of the cerebellum [HPO term]
- Lhermitte-Duclos disease [PASCAL descriptor]
- Lhermitte-Duclos disease (disorder) [SNOMED CT concept]
- Ruvalcaba syndrome [ORDO Disease]
- Ruvalcaba syndrome [OMIM Phenotype]
- Ruvalcaba-Myhre syndrome (disorder) [SNOMED CT concept]
- dysplastic gangliocytoma of cerebellum [Radlex concept]
- riley-smith syndrome [SNOMED Notion]
- ruvalcaba syndrome [SNOMED Notion]
- ruvalcaba-myhre syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Cowden Syndrome [NCIt concept]
- 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]
- PTEN hamartoma tumor syndrome [ORDO Disease]
- PTEN hamartoma tumor syndrome (disorder) [SNOMED CT concept]
- cowden syndrome [SNOMED Notion]
- multiple hamartoma syndrome [Disease (Nov.)]
DO Cross reference
- Bannayan-Riley-Ruvalcaba syndrome [DO Concept]
- Cowden syndrome [DO Concept]
False automatic mappings
- Lhermitte-Duclos disease [ORDO Disease]
- Riley-Smith syndrome (disorder) [SNOMED CT concept]
- Ruvalcaba syndrome (disorder) [SNOMED CT concept]
Manual NTBT mappings (CISMeF)
- Cerebellar malformation [ORDO Disease]
- Genetic skin tumor or hamartoma [ORDO Disease]
- Malformation syndrome with hamartosis [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Overgrowth syndrome [ORDO Disease]
- Palpebral piliary tumor [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Rare genetic gynecological and obstetrical diseases [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare malignant breast tumor [ORDO Disease]
- Rare skin tumor or hamartoma [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Syndrome with a central nervous system malformation as a major feature [ORDO Disease]
ORDO relation(s)
- Cowden syndrome [ORDO Disease]
Record concept(s)
- Bannayan-Riley-Ruvalcaba Syndrome [MeSH concept]
- Lhermitte-Duclos disease [MeSH concept]
- PTEN hamartoma tumor syndrome [MeSH concept]
- hamartoma syndrome, multiple [MeSH concept]
Related MeSH Supplementary Concept(s)
- Cowden-Like syndrome [MeSH Supplementary Concept]
- basal cell carcinoma, multiple [MeSH Supplementary Concept]
- cerebellar granule cell hypertrophy and megalencephaly [MeSH Supplementary Concept]
- cerebelloparenchymal disorder VI [MeSH Supplementary Concept]
- graham boyle troxell syndrome [MeSH Supplementary Concept]
- heart defect, tongue hamartoma and polysyndactyly [MeSH Supplementary Concept]
- pten hamartoma tumor syndrome with granular cell tumor [MeSH Supplementary Concept]
- sacral hemangiomas multiple congenital abnormalities [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Dysplastic cerebellar gangliocytoma [ICD-11 More detail]
- Phosphatase and tensin homolog [OMIM gene]
- Ruvalcaba Myhre Smith syndrome [Disease (Nov.)]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Cowden Syndrome [NCIt 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]
- multiple hamartoma syndrome [Disease (Nov.)]
Validated automatic mappings to BTNT
- Cowden syndrome 1 [OMIM Phenotype]
- PTEN Hamartoma Tumor Syndrome [NCIt concept]
- PTEN hamartoma tumor syndrome [DO Concept]

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