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.

Synonyms: MPSIH/S Mucopolysaccharidosis type IH/S MPS1H/S Mucopolysaccharidosis type 1H/S

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Term information

database cross reference
  • ICD-10:E76.0 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
  • MedDRA:10056916 (E (Exact mapping: the two concepts are equivalent))
  • OMIM:607015 (E (Exact mapping: the two concepts are equivalent))
  • UMLS:C0086431 (E (Exact mapping: the two concepts are equivalent))
  • ICD-10:E76.0 (Attributed (The ICD10 code is attributed by Orphanet))
hasDbXref

MedDRA:10056916
UMLS:C0086431
OMIM:607015
ICD-10:E76.0

notation

ORPHA:93476