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Peutz-Jeghers Syndrome (CUI C0031269) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0031269

NCI Thesaurus Code: C3324  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An inherited condition characterized by generalized hamartomatous multiple polyposis of the intestinal tract. Transmitted in an autosomal dominant fashion, Peutz-Jeghers syndrome consistently involves the jejunum and is associated with melanin spots of the lips, buccal mucosa, and fingers. This syndrome is associated with abnormalities of chromosome 19. Also known as Jeghers-Peutz syndrome and Peutz's syndrome.

GARD Definition: Peutz-Jeghers syndrome (PJS) is an inherited condition that is associated with an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). PJS is caused by changes (mutations) in the STK11 gene and is inherited in an autosomal dominant manner. Management typically includes high-risk screening for associated polyps and cancers. - this information is from GARD/ORDR/NCATS.

NCI-GLOSS Definition: A genetic disorder in which polyps form in the intestine and dark spots appear on the mouth and fingers. Having Peutz-Jeghers syndrome increases the risk of developing gastrointestinal and many other types of cancer.

MSH Definition: A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.

Synonyms & Abbreviations: (see Synonym Details)
Hamartomatous Intestinal Polyposes
Hamartomatous intestinal polyposis
Intestinal Polyposes, Hamartomatous
Intestinal Polyposis, Hamartomatous
INTESTINAL POLYPOSIS-CUTANEOUS PIGMENTATION SYNDROME
Jeghers-Peutz Syndrome
Lentiginoses, Perioral
Lentiginosis, perioral
Perioral Lentiginoses
Perioral Lentiginosis
Periorificial Lentiginosis Syndromes
Periorificial lentiginosis syndrome
Peutz Jegher's Syndrome
Peutz Jeghers polyposis
Peutz Jeghers syndrome
Peutz's Syndrome
Peutz-Jegher Syndrome
Peutz-Jegher's Syndrome
Peutz-Jeghers Polyposis
Peutz-Jeghers syndrome (disorder)
Peutz-Jeghers Syndrome [Disease/Finding]
PEUTZ-JEGHERS SYNDROME
PJS - Peutz-Jehgers syndrome
PJS
Polyposes, Hamartomatous Intestinal
Polyposis, hamartomatous intestinal
POLYPOSIS, INTESTINAL, II
Polyposis, Peutz-Jeghers
Polyps and spots syndrome
Polyps-and-Spots Syndromes
Polyps-and-spots syndrome
Syndrome, Periorificial Lentiginosis
Syndrome, Peutz-Jegher's
Syndrome, Peutz-Jeghers
Syndrome, Polyps-and-Spots
Syndromes, Periorificial Lentiginosis
Syndromes, Polyps-and-Spots

External Source Codes: 
NCI Thesaurus Code C3324 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL 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
CTV3ID PK60. SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2015-01-15T00:03:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DID 0944-7801 CSP
DID 1248-3971 CSP
DID 2010-0179 CSP
DISEASE_IDENTIFIER_ID 32221 GARD
DISEASE_IDENTIFIER_ID 32222 GARD
DISEASE_IDENTIFIER_ID 32223 GARD
DISEASE_IDENTIFIER_ID 32224 GARD
DISEASE_IDENTIFIER_ID 5353 GARD
DISEASE_IDENTIFIER_ID 5354 GARD
DISEASE_IDENTIFIER_ID 5355 GARD
DISEASE_IDENTIFIER_ID 5356 GARD
DISEASE_IDENTIFIER_ID 5357 GARD
DISEASE_IDENTIFIER_ID 5358 GARD
DX 19650101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,9,p,1,3,.,3, OMIM
GENESYMBOL LKB1 OMIM
GENESYMBOL PJS OMIM
GENESYMBOL STK11 OMIM
HAS_GARD_PAGE true GARD
HN 65; was see under POLYPI (now POLYPS) 1963-64 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Synonym Modified GARD
LAST_REVIEW_DATE 2009-01-23T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits. NDFRT
MESH_DUI D010580 NDFRT
MESH_NAME Peutz-Jeghers Syndrome NDFRT
MESH_UI M0016441 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20160701 MSH
MN C04.700.705 MSH
MN C06.405.469.578.750 MSH
MN C16.320.700.705 MSH
MN C17.800.621.430.530.550.625 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000002382 NDFRT
PM 65; was see under POLYPI (now POLYPS) 1963-64 MSH
PRIMARY_PATH 10034764$10022646$10018018$10010331$Peutz-Jeghers syndrome$Intestinal disorders congenital$Gastrointestinal tract disorders congenital$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/7378/peutz-jeghers-syndrome/resources/1 GARD
RXAUI 3188618 RXNORM
RXAUI 3219554 RXNORM
RXAUI 3219555 RXNORM
RXAUI 3219556 RXNORM
RXAUI 3222350 RXNORM
RXAUI 3222370 RXNORM
RXAUI 3606204 RXNORM
RXAUI 3606211 RXNORM
RXCUI 1022937 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_STATUS I MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 54411001 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~PK60. 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 T031234 MSH
TERMUI T031235 MSH
TERMUI T031236 MSH
TERMUI T530204 MSH
TERMUI T530205 MSH
TERMUI T769777 MSH
TERMUI T769778 MSH
TH GHR (2014) MSH
TH NLM (1965) MSH
TH NLM (1993) MSH
TH NLM (2004) 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=C0031269

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