Hurler-Scheie syndrome

Orpha code: 93476OMIM code: 607015

Definicja

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

Disease data
Klasyfikacja

Clinical subtype

Synonimy
MPS1H/S
MPS1H/S
MPSIH/S
Mukopolisacharydoza typu 1H/S
Mukopolisacharydoza typu IH/S
MPSIH/S
Mucopolysaccharidosis type 1H/S
Mucopolysaccharidosis type IH/S
Kod ORPHA
93476
Kod OMIM
607015
Kod ICD10
E76.0
Kod ICD11
-

No additional description.

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