Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Behavioral changes
Very frequent (80-99%)HP:0000708
Cortical dysplasia
Very frequent (80-99%)HP:0002539
Cortical tubers
Very frequent (80-99%)HP:0009717
Epilepsy
Very frequent (80-99%)HP:0001250
Generalized abnormality of skin
Very frequent (80-99%)HP:0011354
Hypomelanotic macule
Very frequent (80-99%)HP:0009719
Renal anomalies
Very frequent (80-99%)HP:0000077
Subependymal nodules
Very frequent (80-99%)HP:0009716
Abnormal social interactions
Frequent (30-79%)HP:0012433
Aggression
Frequent (30-79%)HP:0000718
Angiofibromas
Frequent (30-79%)HP:0010615
ASD
Frequent (30-79%)HP:0000729
Autism
Frequent (30-79%)HP:0000717
Autoagression
Frequent (30-79%)HP:0100716
Chorioretinal hypopigmentation
Frequent (30-79%)HP:0040030
Confetti-like hypopigmented macules
Frequent (30-79%)HP:0007449
Depression
Frequent (30-79%)HP:0000716
Focal seizures
Frequent (30-79%)HP:0007359
Hyperactive behaviour
Frequent (30-79%)HP:0000752
Impulsivity
Frequent (30-79%)HP:0100710
Infantile spasms
Frequent (30-79%)HP:0012469
Lymphangioleiomyomatosis
Frequent (30-79%)HP:0012798
Mental-retardation
Frequent (30-79%)HP:0001249
Neurodevelopmental delay
Frequent (30-79%)HP:0012758
Progressive renal failure
Frequent (30-79%)HP:0012622
Prolonged seizure
Frequent (30-79%)HP:0002133
Renal cyst
Frequent (30-79%)HP:0000107
Repetitive compulsive behaviour
Frequent (30-79%)HP:0008762
Retinal hamartoma
Frequent (30-79%)HP:0009594
Shagreen patch
Frequent (30-79%)HP:0009721
Related Conditions
Pulmonary tuberous sclerosis(child)
Ash leaf spot, tuberous sclerosis(child)
Fibrous skin tumor of tuberous sclerosis(child)
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis(child)
Neuroectodermal dysplasia(parent)
Encephalomyeloneuropathy(parent)
Hereditary neoplastic syndrome(parent)
Hereditary disorder of nervous system(parent)
Hereditary disorder of the integument(parent)
Autosomal dominant hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 7199000
- UMLS CUI
- C0041341
- Fully Specified Name
- Tuberous sclerosis 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.