Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abdominal discomfort
Very frequent (80-99%)HP:0002027
Dyschezia
Very frequent (80-99%)HP:0002019
Facial angiofibromas
Very frequent (80-99%)HP:0009720
Gastrointestinal haemorrhage
Very frequent (80-99%)HP:0002239
Glioblastoma
Very frequent (80-99%)HP:0012174
Intestinal malabsorption
Very frequent (80-99%)HP:0002024
Skin cancer (non-melanoma)
Very frequent (80-99%)HP:0008069
Tiredness
Very frequent (80-99%)HP:0012378
Weight loss
Very frequent (80-99%)HP:0001824
Behavioural/Psychiatric abnormality
Frequent (30-79%)HP:0000708
Central hypotonia
Frequent (30-79%)HP:0001252
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Colon cancer
Frequent (30-79%)HP:0003003
Depression
Frequent (30-79%)HP:0000716
Epilepsy
Frequent (30-79%)HP:0001250
Excessive, persistent worry and fear
Frequent (30-79%)HP:0000739
Hypertonia
Frequent (30-79%)HP:0001276
Irritable mood
Frequent (30-79%)HP:0000737
Migraine headache
Frequent (30-79%)HP:0002076
Nausea and vomiting
Frequent (30-79%)HP:0002017
Pseudotumor cerebri
Frequent (30-79%)HP:0002516
Rectal tumour
Frequent (30-79%)HP:0100743
Stomach tumor
Frequent (30-79%)HP:0006753
Abnormal vocalization
Occasional (5-29%)HP:0002167
Agnosia
Occasional (5-29%)HP:0010524
Agraphia
Occasional (5-29%)HP:0010526
Amaurosis fugax
Occasional (5-29%)HP:0100576
Basal cell carcinoma
Occasional (5-29%)HP:0002671
Benign neoplasm of the CNS
Occasional (5-29%)HP:0100835
Blood tumor
Occasional (5-29%)HP:0004377
Quick Facts
- SNOMED CT
- 315058005
- UMLS CUI
- C1333990
- Fully Specified Name
- Hereditary nonpolyposis colon cancer (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.