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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:
| 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
