ICD-11 classes
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD28 — Syndromes with connective tissue involvement as a major...
LD28.0 — Marfan syndrome or Marfan-related disorders
LD28.01 — Marfan syndrome

ICD-11 LD28.01 — Marfan syndrome

Marfan syndrome is a systemic disease of connective tissue characterised by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations. Cardiovascular involvement is characterised by 1) progressive dilation of the aorta accompanied by an increased risk of aortic dissection, which affects prognosis and 2) mitral insufficiency. Skeletal involvement is often the first sign of the disease and can include dolichostenomelia, large size, arachnodactyly, joint hypermobility, scoliotic deformations, acetabulum protrusion, thoracic deformity, dolichocephaly of the anteroposterior axis, micrognathism or malar hypoplasia. Ophthalmic involvement results in axile myopia, which can lead to retinal detachment and lens displacement.

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.

The diagnosis is coded elsewhere:

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