loading...| Preferred Name |
马凡综合征 / Marfan syndrome |
| Definitions |
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. |
| ID |
http://purl.bmicc.cn/ontology/ICD11CN/LD28.01 |
| 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. |
| hasDbXref | |
| label |
马凡综合征 / Marfan syndrome |
| mappingRelation | |
| notation |
LD28.01 |
| prefixIRI |
ICD11CN:LD28.01 |
| prefLabel |
马凡综合征 / Marfan syndrome |
| subClassOf |