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Hamartoma Syndrome, Multiple (CUI C0018553) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0018553

NCI Thesaurus Code: C3076  (see NCI Thesaurus info)

Semantic Type: Neoplastic Process

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.

GARD Definition: Cowden syndrome is an inherited condition that is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. It is considered part of the PTEN Hamartoma Tumor Syndrome spectrum which also includes Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome. People affected by Cowden syndrome are also at an increased risk of developing certain types of cancer, such as breast, thyroid and endometrial (lining of the uterus) cancer. Most cases are caused by changes (mutations) in the PTEN gene and are inherited in an autosomal dominant manner. Management typically includes high-risk screening for associated tumors and/or prophylactic surgeries. - this information is from GARD/ORDR/NCATS.

NCI-GLOSS Definition: 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.

MSH 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.

Synonyms & Abbreviations: (see Synonym Details)
CD
Cowden disease
COWDEN DIS
Cowden syndrome (disorder)
COWDEN SYNDROME 1
Cowden syndrome
Cowden's disease
Cowden's Syndrome
Cowdens Disease
COWDENS DIS
Cowdens Syndrome
CS
CWS1
Hamartoma Syndrome, Multiple [Disease/Finding]
Hamartoma Syndrome, Multiple
Hamartoma Syndromes, Multiple
MHAM
Multiple Hamartoma Syndromes
Multiple hamartoma syndrome
PTEN Hamartoma Syndrome

External Source Codes: 
NCI Thesaurus Code C3076 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CTRP NCI
CTV3ID X50H3 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_FIRST_PUBLISHED 2008-07-23 PDQ
DATE_LAST_MODIFIED 2011-12-01 PDQ
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 17959 GARD
DISEASE_IDENTIFIER_ID 17960 GARD
DISEASE_IDENTIFIER_ID 17961 GARD
DISEASE_IDENTIFIER_ID 17962 GARD
DISEASE_IDENTIFIER_ID 17963 GARD
DISEASE_IDENTIFIER_ID 17964 GARD
DX 19910101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,0,q,2,3,.,3,1, OMIM
GENESYMBOL CWS1 OMIM
GENESYMBOL GLM2 OMIM
GENESYMBOL MMAC1 OMIM
GENESYMBOL PTEN OMIM
HAS_GARD_PAGE true GARD
HN 91(87); was see under NEOPLASMS, MULTIPLE PRIMARY 1987-90 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19860623 MSH
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. NDFRT
MESH_DUI D006223 NDFRT
MESH_NAME Hamartoma Syndrome, Multiple NDFRT
MESH_UI M0009775 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C04.445.435 MSH
MN C04.651.435 MSH
MN C04.700.435 MSH
MN C16.320.700.435 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NCI_THESAURUS_CODE C3076 PDQ
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001406 NDFRT
ORIG_STY Genetic condition PDQ
ORIG_STY Neoplasm diagnosis PDQ
PM 91; was see under NEOPLASMS, MULTIPLE PRIMARY 1987-90 MSH
PRIMARY_PATH 10051906$10003842$10008804$10010331$Cowden's disease$Autosomal chromosomal abnormalities$Chromosomal abnormalities and abnormal gene carriers$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/1 GARD
RXAUI 3135995 RXNORM
RXAUI 3135996 RXNORM
RXAUI 3170928 RXNORM
RXAUI 3170929 RXNORM
RXAUI 3200079 RXNORM
RXAUI 3287015 RXNORM
RXAUI 3605660 RXNORM
RXCUI 1022340 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 58037000 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q85.8 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q85.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q85.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q85.8 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X50H3 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T018875 MSH
TERMUI T018876 MSH
TERMUI T018877 MSH
TERMUI T018878 MSH
TERMUI T681637 MSH
TERMUI T769474 MSH
TH GHR (2014) MSH
TH NLM (1987) MSH
TH NLM (2008) MSH
TH NLM (2011) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0018553

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