Hurler-Scheie Syndrome

Preferred Label : Hurler-Scheie Syndrome;

NCIt synonyms : MPS I H-S;

NCIt definition : An autosomal recessive disorder representing the intermediate form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include short stature, cloudy cornea, umbilical hernia, joint stiffening, hepatosplenomegaly, and mental retardation.;

Details

Origin ID

C122782;

UMLS CUI

C0086431;

Currated CISMeF NLP mapping
- 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 1H/S [ICD-11 More detail]
- Mucopolysaccharidosis type I-H/S (disorder) [SNOMED CT concept]
- mucopolysaccharidosis Ih/s [DO Concept]
- mucopolysaccharidosis, mps-i-h/s [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis Ih/s [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hurler-Scheie syndrome [ORDO Disease]
- Hurler-Scheie syndrome [MedDRA LLT]
- Hurler-Scheie syndrome [MeSH concept]
- Hurler-scheie syndrome [OMIM Phenotype]
- Mucopolysaccharidosis IH/S [MedDRA LLT]
- Mucopolysaccharidosis type 1H/S [ICD-11 More detail]
- 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]
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) :

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