ICD-11 classes
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2D — Phakomatoses or hamartoneoplastic syndromes
LD2D.2 — Tuberous sclerosis
ICD-11 LD2D.2 — Tuberous sclerosis
A disease caused by a dominant mutation of 9q34 (TSC1) or 16p13 (TSC2). This disease may present with facial angiofibromas, Koenen tumours, fibrous plaques on the forehead and scalp, renal angiomyolipomas, subependymal nodules, multiple cortical tuber or retinal hamartoma, epilepsy, or mental retardation.
It includes 1 item.
- Bourneville disease
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere:
- Inherited cancer-predisposing syndromes #2829
- Genetic hamartoneoplastic syndromes affecting the skin #16081
- Cystic or dysplastic kidney disease #19654
- Genetic hamartoneoplastic syndromes affecting the skin #23341
- Conditions with disorders of intellectual development as a relevant clinical feature #23735
The diagnosis is included in 1 another class.
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (LD2F.1Y)