Terminology Service for NFDI4Health
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Peutz-Jeghers syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0008280

Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies. [ ]

Term info

Label

Peutz-Jeghers syndrome

Synonyms
  • Jeghers-Peutz syndrome
  • PJS
  • Peutz Jeghers colon polyp
  • Peutz's syndrome
  • Peutz-Jeghers polyp of small intestine
  • Peutz-Jeghers small bowel hamartoma
  • Peutz-Jeghers syndrome
  • colonic hamartomatous polyp
  • gastric Peutz-Jeghers polyp
  • hamartomatous intestinal polyposis
  • polyps and spots syndrome
database cross reference
Subsets

gard_rare, ordo_disease, clingen

closeMatch

http://identifiers.org/meddra/10034764

exactMatch

http://identifiers.org/snomedct/54411001, http://identifiers.org/mesh/D010580, https://omim.org/entry/175200, http://purl.obolibrary.org/obo/DOID_3852, http://purl.obolibrary.org/obo/NCIT_C3324, http://purl.obolibrary.org/obo/Orphanet_2869, http://linkedlifedata.com/resource/umls/id/C0031269

has related synonym

polyps-and-Spots syndrome, polyposis, hamartomatous intestinal, Peutz Jeghers polyposis, lentiginosis, perioral, periorificial lentiginosis syndrome

id

MONDO:0008280

narrowMatch

https://icd.codes/icd10cm/Q85.8

see also

https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome