Scheie Syndrome

Preferred Label : Scheie Syndrome;

NCIt synonyms : MPS I S;

NCIt definition : An autosomal recessive disorder representing the milder form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include broad mouth with full lips, cloudy cornea which may lead to blindness, stiff joints, and hirsutism.;

Details

Origin ID

C61265;

UMLS CUI

C0026708;

Automatic exact mappings (from CISMeF team)
- Mucopolysaccharidosis, type I [ICD-10 Sub-category]
- Mucopolysaccharidosis, type I [ICD-10 Sub-category (who)]
- mucopolysaccharidosis I [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hurler-Scheie syndrome [ORDO Disease]
- Hurler-Scheie syndrome [Disease (Nov.)]
- Hurler-Scheie syndrome [MeSH concept]
- Hurler-Scheie syndrome [MedDRA LLT]
- Hurler-scheie syndrome [OMIM Phenotype]
- Mucopolysaccharidosis IH/S [MedDRA LLT]
- Mucopolysaccharidosis V [MedDRA Preferred Term]
- Mucopolysaccharidosis type 1S [ICD-11 More detail]
- Mucopolysaccharidosis type I-H/S (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis type I-S (disorder) [SNOMED CT concept]
- Scheie syndrome [DO Concept]
- Scheie syndrome [Disease (Nov.)]
- Scheie syndrome [OMIM Phenotype]
- Scheie syndrome [ORDO Disease]
- Scheie's syndrome [MedDRA LLT]
- mucopolysaccharidosis, mps-i-s [SNOMED Notion]
- scheie syndrome [MeSH concept]
See also inter- (CISMeF)
- Mucopolysaccharidosis type 1H/S [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucopolysaccharidosis IS [MedDRA LLT]
- Mucopolysaccharidosis V [MedDRA Preferred Term]
- Mucopolysaccharidosis type 1S [ICD-11 More detail]
- Mucopolysaccharidosis type I-S (disorder) [SNOMED CT concept]
- Scheie syndrome [OMIM Phenotype]
- Scheie syndrome [ORDO Disease]
- Scheie syndrome [DO Concept]
- Scheie syndrome [Disease (Nov.)]
- Scheie's syndrome [MedDRA LLT]
- mucopolysaccharidosis, mps-i-s [SNOMED Notion]
- scheie syndrome [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- IDUA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients