ICD-11 classes
20 Developmental anomalies
Structural developmental anomalies primarily affecting one...
Structural developmental anomalies of the circulatory system
LA90 — Structural developmental anomalies of the peripheral...
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 #16675
- Primary lymphoedema #16697
- Cystic or dysplastic kidney disease #19654
- 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