Mucopolysaccharidosis Type I

Preferred Label : Mucopolysaccharidosis Type I;

NCIt synonyms : Mucopolysaccharidosis I; MPS I;

NCIt definition : The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).;

Details

Origin ID

C85053;

UMLS CUI

C0023786;

Automatic exact mappings (from CISMeF team)
- Hurler syndrome [PASCAL descriptor]
- Hurler syndrome [Radlex concept]
- Mucopolysaccharidosis type I [LOINC component]
- alpha-L-iduronidase [HGNC gene]
- alpha-L-iduronidase [ORDO Gene]
Currated CISMeF NLP mapping
- Mucopolysaccharidosis I [MedDRA Preferred Term]
- Mucopolysaccharidosis type 1 [ORDO Disease]
- Mucopolysaccharidosis type 1 [ICD-11 Sub-sub category]
- Mucopolysaccharidosis type I (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type I [ICD-10 Sub-category]
- Mucopolysaccharidosis, type I [ICD-10 Sub-category (who)]
- alpha-L-Iduronidase deficiency [MeSH concept]
- mucopolysaccharidosis 1 [Disease (Nov.)]
- mucopolysaccharidosis I [DO Concept]
- mucopolysaccharidosis I [MeSH Descriptor]
- mucopolysaccharidosis I [MeSH concept]
- mucopolysaccharidosis, mps-i [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis I [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucopolysaccharidosis I [MedDRA Preferred Term]
- Mucopolysaccharidosis type I [LOINC component]
- Mucopolysaccharidosis type I (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type I [ICD-10 Sub-category]
- Mucopolysaccharidosis, type I [ICD-10 Sub-category (who)]
- mucopolysaccharidosis 1 [Disease (Nov.)]
- mucopolysaccharidosis I [DO Concept]
- mucopolysaccharidosis I [MeSH concept]
- mucopolysaccharidosis I [MeSH Descriptor]
- mucopolysaccharidosis, mps-i [SNOMED Notion]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- IDUA Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- IDUA Gene [NCIt concept]
- IDUA wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients