Mucopolysaccharidosis type 1S

Preferred Label : Mucopolysaccharidosis type 1S;

ICD-11 definition : Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. The disease commonly manifests after the age of 5 years but are so mild that diagnosis is often not considered until adulthood.;

ICD-11 synonym : Mucopolysaccharidosis type 1, mild form; Scheie syndrome; MPS1S - [Mucopolysaccharidosis type 1S];

ICD-11 acronym : MPS1S;

Details

Origin ID

2128730057;

UMLS CUI

C0026708;

Automatic exact mappings (from CISMeF team)
- 40S Ribosomal Protein S27 [NCIt concept]
- IDUA wt Allele [NCIt concept]
- MPEG1 wt Allele [NCIt concept]
- RPS27 wt Allele [NCIt concept]
- alpha-L-iduronidase [ORDO Gene]
- ribosomal protein S27 [ORDO Gene]
Currated CISMeF NLP mapping
- Mucopolysaccharidosis V [MedDRA Preferred Term]
- Mucopolysaccharidosis type I-S (disorder) [SNOMED CT concept]
- Scheie Syndrome [NCIt concept]
- Scheie syndrome [DO Concept]
- Scheie syndrome [ORDO Disease]
- Scheie syndrome [OMIM Phenotype]
- Scheie syndrome [Disease (Nov.)]
- Scheie's syndrome [MedDRA LLT]
- mucopolysaccharidosis, mps-i-s [SNOMED Notion]
- scheie syndrome [MeSH concept]
See also inter- (CISMeF)
- Hurler-Scheie syndrome [MedDRA LLT]
- Hurler-Scheie syndrome [MeSH concept]
- Hurler-Scheie syndrome [ORDO Disease]
- Hurler-Scheie syndrome [Disease (Nov.)]
- Hurler-scheie syndrome [OMIM Phenotype]
- Mucopolysaccharidosis IH/S [MedDRA LLT]
- Mucopolysaccharidosis type I-H/S (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucopolysaccharidosis IS [MedDRA LLT]
- Mucopolysaccharidosis V [MedDRA Preferred Term]
- Mucopolysaccharidosis type I-S (disorder) [SNOMED CT concept]
- Scheie Syndrome [NCIt concept]
- Scheie syndrome [DO Concept]
- Scheie syndrome [OMIM Phenotype]
- Scheie syndrome [Disease (Nov.)]
- Scheie syndrome [ORDO Disease]
- Scheie's syndrome [MedDRA LLT]
- mucopolysaccharidosis, mps-i-s [SNOMED Notion]
- scheie syndrome [MeSH concept]
Validated automatic mappings to NTBT
- Mucopolysaccharidosis type 1 [ORDO Disease]
- mucopolysaccharidosis I [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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