ICD-11 code : LD28.01;
Preferred Label : Marfan syndrome;
ICD-11 definition : Marfan syndrome is a systemic disease of connective tissue characterized by a variable
combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.
Cardiovascular involvement is characterized 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.;
ICD-11 synonym : Marfan disease;
Origin ID : 236564145;
UMLS CUI : C0024796;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- ICD-10 Mapping
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
Marfan syndrome is a systemic disease of connective tissue characterized by a variable
combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.
Cardiovascular involvement is characterized 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.
