ICD-11 MMS

20 Developmental anomalies

Multiple developmental anomalies or syndromes  (LD20-LD2Z)

LD2F Syndromes with multiple structural anomalies, without predominant body system involvement

LD2F.1 Syndromes with multiple structural anomalies, not of environmental origin

LD2F.15 Noonan syndrome

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01


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.

synonyms

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