5C56.30 Mucopolysaccharidosis type 1
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome (57% of cases) being the most severe, Scheie syndrome (20% of cases) the mildest and Hurler-Scheie syndrome (23% of cases) giving an intermediate phenotype.
synonyms
- Mucopolysaccharidosis type 1
- Alpha-L-iduronidase deficiency
- l-iduronidase deficiency
- Lipochondrodystrophy
- dysostosis multiplex
- dysostosis multiplex syndrome
- Gargoylism
- MPS1 - [Mucopolysaccharidosis type 1]
- Mucopolysaccharidosis type 1H
- Hurler syndrome
- Mucopolysaccharidosis type 1, severe form
- MPS1H - [Mucopolysaccharidosis type 1H]
- Mucopolysaccharidosis type 1H/S
- Hurler-Scheie syndrome
- Mucopolysaccharidosis type 1, intermediate form
- MPS1H/S - [Mucopolysaccharidosis type 1H/S]
- Mucopolysaccharidosis type 1S
- Scheie syndrome
- Mucopolysaccharidosis type 1, mild form
- MPS1S - [Mucopolysaccharidosis type 1S]
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