Mucopolysaccharidosis, type I

Preferred Label : Mucopolysaccharidosis, type I;

Diag associé à un acte (%) : 19.2;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

E760;

UMLS CUI

C0023786;

Automatic exact mappings (from CISMeF team)
- Hurler-Scheie syndrome [MeSH concept]
- Mucopolysaccharidosis type I [LOINC component]
- Scheie Syndrome [NCIt concept]
- alpha-L-iduronidase [HGNC gene]
- scheie syndrome [MeSH concept]
Currated CISMeF NLP mapping
- Alpha-L-iduronidase deficiency [MedDRA LLT]
- Mucopolysaccharidosis I [MedDRA Preferred Term]
- Mucopolysaccharidosis Type I [NCIt concept]
- Mucopolysaccharidosis type 1 [ORDO Disease]
- Mucopolysaccharidosis type 1 [ICD-11 Sub-sub category]
- Mucopolysaccharidosis type I (disorder) [SNOMED CT concept]
- alpha-L-Iduronidase deficiency [MeSH concept]
- mucopolysaccharidosis 1 [Disease (Nov.)]
- mucopolysaccharidosis I [MeSH Descriptor]
- mucopolysaccharidosis I [MeSH concept]
- mucopolysaccharidosis I [DO Concept]
- mucopolysaccharidosis, mps-i [SNOMED Notion]
DO Cross reference
- Scheie syndrome [DO Concept]
- mucopolysaccharidosis I [DO Concept]
Excluded by
- Osteochondrodysplasia with defects of growth of tubular bones and spine [ICD-10 category]
- Other disorders of carbohydrate metabolism [ICD-10 category]
Orphanet concepts
- Hurler syndrome [ORDO Disease]
- Hurler-Scheie syndrome [ORDO Disease]
- Mucopolysaccharidosis [ORDO Disease]
- Mucopolysaccharidosis type 1 [ORDO Disease]
- Scheie syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucopolysaccharidosis I [MedDRA Preferred Term]
- Mucopolysaccharidosis Type I [NCIt concept]
- Mucopolysaccharidosis type I [LOINC component]
- Mucopolysaccharidosis type I (disorder) [SNOMED CT concept]
- mucopolysaccharidosis 1 [Disease (Nov.)]
- mucopolysaccharidosis I [MeSH Descriptor]
- mucopolysaccharidosis I [MeSH concept]
- mucopolysaccharidosis I [DO Concept]
- mucopolysaccharidosis, mps-i [SNOMED Notion]
Validated automatic mappings to BTNT
- Hurler Syndrome [NCIt concept]
Validated automatic mappings to NTBT
- Hurler syndrome [ORDO Disease]
- Hurler-Scheie syndrome [ORDO Disease]
- Scheie syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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