Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Breast carcinoma
Very frequent (80-99%)HP:0003002
Colorectal polyps
Very frequent (80-99%)HP:0200063
Conjunctival hamartoma
Very frequent (80-99%)HP:0100780
Flat, discolored area of skin
Very frequent (80-99%)HP:0012733
Generalised hyperkeratosis
Very frequent (80-99%)HP:0005595
Keratoderma
Very frequent (80-99%)HP:0000982
Papilloma
Very frequent (80-99%)HP:0012740
Papules
Very frequent (80-99%)HP:0200034
Skin cancer (non-melanoma)
Very frequent (80-99%)HP:0008069
Thyroid goiter
Very frequent (80-99%)HP:0000853
Abnormal tissue mass
Frequent (30-79%)HP:0002664
Abnormality of the penis
Frequent (30-79%)HP:0000036
Ataxia
Frequent (30-79%)HP:0001251
Cavernous haemangioma
Frequent (30-79%)HP:0001048
Cognitive deficits
Frequent (30-79%)HP:0100543
Cognitive delay
Frequent (30-79%)HP:0001263
Facial angiofibromas
Frequent (30-79%)HP:0009720
Fatty lump
Frequent (30-79%)HP:0012032
Fibroma
Frequent (30-79%)HP:0010614
Gastrointestinal hamartoma
Frequent (30-79%)HP:0004390
Increased size of skull
Frequent (30-79%)HP:0000256
Lingua plicata
Frequent (30-79%)HP:0000221
Lingual hyperplasia
Frequent (30-79%)HP:0000158
Low intelligence
Frequent (30-79%)HP:0001249
Meningioma
Frequent (30-79%)HP:0002858
Mucosal telangiectasiae
Frequent (30-79%)HP:0100579
Noncancerous mole
Frequent (30-79%)HP:0000995
Subcutaneous nodule
Frequent (30-79%)HP:0001482
Thyroid disease
Frequent (30-79%)HP:0000820
Abnormality of the uterus
Occasional (5-29%)HP:0000130
Quick Facts
- SNOMED CT
- 58037000
- UMLS CUI
- C0018553
- Fully Specified Name
- Cowden 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.