ICD-11 classes
14 Diseases of the skin
Skin disorders involving specific cutaneous structures
Disorders of cutaneous blood and lymphatic vessels
Malformations involving cutaneous lymphatic vessels
LA90.1 — Lymphatic malformations
BD93.0 — Primary lymphoedema
LD2F.15 — Noonan syndrome

ICD-11 LD2F.15 — Noonan syndrome

Noonan Syndrome is characterised by short stature, facial dysmorphism and congenital heart defects. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasia. The syndrome is transmitted as an autosomal dominant trait.

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.

The diagnosis is coded elsewhere:

• Inherited cancer-predisposing syndromes #2829
• Congenital aplastic anaemia #2968
• Primary lymphoedema #11642
• Primary lymphoedema #11664
• Primary lymphoedema #12174
• Primary lymphoedema #16697
• Cystic or dysplastic kidney disease #19654
• Primary lymphoedema #22708
• Primary lymphoedema #23223
• Syndromes with multiple structural anomalies, not of environmental origin #23437
• Conditions with disorders of intellectual development as a relevant clinical feature #23735