mucopolysaccharidosis, mps-i-s

Preferred Label : mucopolysaccharidosis, mps-i-s;

Details

Origin ID

D6-70114;

UMLS CUI

C0026708;

Automatic exact mappings (from CISMeF team)
- Mucopolysaccharidosis type I (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis type II (disorder) [SNOMED CT concept]
- Sanfilippo syndrome (disorder) [SNOMED CT concept]
- mucopolysaccharidosis I [DO Concept]
Currated CISMeF NLP mapping
- Mucopolysaccharidosis V [MedDRA Preferred Term]
- Mucopolysaccharidosis type 1S [ICD-11 More detail]
- Mucopolysaccharidosis type I-S (disorder) [SNOMED CT concept]
- Scheie Syndrome [NCIt concept]
- Scheie syndrome [DO Concept]
- Scheie syndrome [Disease (Nov.)]
- Scheie syndrome [ORDO Disease]
- Scheie syndrome [OMIM Phenotype]
- Scheie's syndrome [MedDRA LLT]
- scheie syndrome [MeSH concept]
ICD-10 exact mapping(s)
- Mucopolysaccharidosis, type I [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- l-iduronidase [SNOMED Notion]
SNOMED CT concept
- Mucopolysaccharidosis type I-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 1S [ICD-11 More detail]
- Mucopolysaccharidosis type I-S (disorder) [SNOMED CT concept]
- Scheie Syndrome [NCIt concept]
- Scheie syndrome [OMIM Phenotype]
- Scheie syndrome [ORDO Disease]
- Scheie syndrome [Disease (Nov.)]
- Scheie syndrome [DO Concept]
- Scheie's syndrome [MedDRA LLT]
- scheie syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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