deficiency of iduronate-2-sulfatase

Preferred Label : deficiency of iduronate-2-sulfatase;

Details

Origin ID

D6-74516;

UMLS CUI

C0026705;

Automatic exact mappings (from CISMeF team)
- Mucopolysaccharidosis type 2, severe form [ORDO Disease]
Currated CISMeF NLP mapping
- Mucopolysaccharidosis type 2 [ORDO Disease]
- Mucopolysaccharidosis type II (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type II [OMIM Phenotype]
- mucopolysaccharidosis ii [MeSH Descriptor]
- sulfoiduronate sulfatase deficiency [MeSH concept]
ICD-10 exact mapping(s)
- Other sphingolipidosis [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Mucopolysaccharidosis type 2, attenuated form [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Lysosomal disease with hypertrophic cardiomyopathy [ORDO Disease]
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- Mucopolysaccharidosis with skin involvement [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Syndromic neurometabolic disease with X-linked intellectual disability [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- iduronate 2-sulfatase [SNOMED Notion]
See also inter- (CISMeF)
- Mucopolysaccharidosis type 2 [ICD-11 Sub-sub category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hunter Syndrome [NCIt concept]
- Hunter syndrome [Disease (Nov.)]
- Hunter syndrome [PASCAL descriptor]
- Hunter's syndrome [MedDRA LLT]
- Mucopolysaccharidosis II [MedDRA Preferred Term]
- Mucopolysaccharidosis type 2 [ICD-11 Sub-sub category]
- Mucopolysaccharidosis type 2 [ORDO Disease]
- Mucopolysaccharidosis type II (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type II [OMIM Phenotype]
- Mucopolysaccharidosis, type II [ICD-10 Sub-category]
- Mucopolysaccharidosis, type II [ICD-10 Sub-category (who)]
- mucopolysaccharidosis II [MeSH concept]
- mucopolysaccharidosis II [DO Concept]
- mucopolysaccharidosis ii [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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