| lipochondrodystrophy | <syndrome> Mucopolysaccharidosis in which there is a deficiency of alpha-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance. See: mucolipidosis. Synonym: dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis. (05 Mar 2000) |
|---|
| lipochondrodystrophy |
Hurler's syndrome: hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation
출처: wordnet.princeton.edu/perl/webwn
|
|---|
| lipochondrodystrophy | hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|