Peutz-Jeghers syndrome

Term ID

DOID:3852

Synonyms

• Colonic hamartomatous polyp
• gastric Peutz-Jeghers polyp
• Peutz Jeghers colon polyp
• Peutz Jeghers polyp
• Peutz-Jeghers polyp of small Intestine
• peutz-jeghers small bowel hamartoma

Definition

An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13. (2)

References

• GARD:7378
• ICD10CM:Q85.89
• MESH:D010580
• NCI:C3324
• NCI:C4733
• NCI:C7755
• OMIM:175200
• ORDO:2869
• SNOMEDCT_US_2023_03_01:157029009
• SNOMEDCT_US_2023_03_01:277161008
• SNOMEDCT_US_2023_03_01:53633000
• UMLS_CUI:C0031269
• UMLS_CUI:C0265323
• UMLS_CUI:C0456487

Ontology

Human Disease   ( DOID:3852 )