Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Bloody diarrhea
Always present (100%)HP:0025085
Gastrointestinal hamartomatous polyps
Always present (100%)HP:0004390
Hyperpigmented macules
Always present (100%)HP:0001034
Intestinal bleeding
Always present (100%)HP:0002584
Intussusception
Always present (100%)HP:0002576
Labial melanotic freckle
Always present (100%)HP:0032454
Multiple gastric polyps
Always present (100%)HP:0004394
Oral melanotic macule
Always present (100%)HP:0032451
Abnormal colour of the oral mucosa
Very frequent (80-99%)HP:0100669
Abnormality of the gastrointestinal tract
Very frequent (80-99%)HP:0011024
Flat, discolored area of skin
Very frequent (80-99%)HP:0012733
GI carcinoma
Very frequent (80-99%)HP:0002672
Multiple lentigines
Very frequent (80-99%)HP:0001003
Gastrointestinal haemorrhage
Frequent (30-79%)HP:0002239
Abnormal tissue mass
Occasional (5-29%)HP:0002664
Abnormality of the gallbladder
Occasional (5-29%)HP:0005264
Abnormality of the respiratory system
Occasional (5-29%)HP:0002086
Abnormality of the ureter
Occasional (5-29%)HP:0000069
Bowel obstruction
Occasional (5-29%)HP:0005214
Breast carcinoma
Occasional (5-29%)HP:0003002
Cervix cancer
Occasional (5-29%)HP:0030079
Dark discoloration of nail
Occasional (5-29%)HP:0100644
Death of digestive organ tissue due to poor blood supply
Occasional (5-29%)HP:0005244
Enlarged ovaries with cysts
Occasional (5-29%)HP:0008675
Esophageal tumor
Occasional (5-29%)HP:0100751
Gastric cancer
Occasional (5-29%)HP:0012126
Low number of red blood cells or hemoglobin
Occasional (5-29%)HP:0001903
Lung tumor
Occasional (5-29%)HP:0100526
Multiple kidney cysts
Occasional (5-29%)HP:0005562
Nasal anomaly
Occasional (5-29%)HP:0000366
Related Conditions
Peutz-Jeghers polyps of small bowel(child)
Intestinal polyposis syndrome(parent)
Autosomal dominant hereditary disorder(parent)
Digestive system hereditary disorder(parent)
Neuroectodermal dysplasia(parent)
Congenital hamartoma(parent)
Hamartoma of intestine(parent)
Hereditary disorder of nervous system(parent)
Hereditary disorder of the integument(parent)
Lentiginosis(parent)
Congenital melanosis(parent)
Hereditary neoplastic syndrome(parent)
Disorder of digestive system specific to fetus OR newborn(parent)
Quick Facts
- SNOMED CT
- 54411001
- UMLS CUI
- C0031269
- Fully Specified Name
- Peutz-Jeghers syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.