Mucopolysaccharidosis type 1H/S

Preferred Label : Mucopolysaccharidosis type 1H/S;

ICD-11 definition : Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.;

ICD-11 synonym : MPS1H/S - [Mucopolysaccharidosis type 1H/S]; Mucopolysaccharidosis type 1, intermediate form; Hurler-Scheie syndrome;

ICD-11 acronym : MPS1H/S;

Details

Origin ID

1362195023;

UMLS CUI

C0086431;

Currated CISMeF NLP mapping
- Hurler-Scheie Syndrome [NCIt concept]
- Hurler-Scheie syndrome [ORDO Disease]
- Hurler-Scheie syndrome [MedDRA LLT]
- Hurler-Scheie syndrome [MeSH concept]
- Hurler-Scheie syndrome [Disease (Nov.)]
- Hurler-scheie syndrome [OMIM Phenotype]
- Mucopolysaccharidosis IH/S [MedDRA LLT]
- Mucopolysaccharidosis type I-H/S (disorder) [SNOMED CT concept]
- mucopolysaccharidosis Ih/s [DO Concept]
- mucopolysaccharidosis, mps-i-h/s [SNOMED Notion]
See also inter- (CISMeF)
- Scheie Syndrome [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hurler-Scheie Syndrome [NCIt concept]
- Hurler-Scheie syndrome [MedDRA LLT]
- Hurler-Scheie syndrome [MeSH concept]
- Hurler-Scheie syndrome [ORDO Disease]
- Hurler-scheie syndrome [OMIM Phenotype]
- Mucopolysaccharidosis IH/S [MedDRA LLT]
- Mucopolysaccharidosis type I-H/S (disorder) [SNOMED CT concept]
- mucopolysaccharidosis Ih/s [DO Concept]
- mucopolysaccharidosis, mps-i-h/s [SNOMED Notion]
Validated automatic mappings to NTBT
- mucopolysaccharidosis I [DO Concept]
- mucopolysaccharidosis I [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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