Mucopolysaccharidosis type 2

ICD-11 code : 5C56.31;

Preferred Label : Mucopolysaccharidosis type 2;

ICD-11 definition : Mucopolysaccharidosis type 2 (MPS 2) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses. The clinical picture ranges from severe (the most frequent form) with early psychomotor regression, facial dysmorphism (macroglossia, constantly opened mouth, coarse features), hepatosplenomegaly, limited joint motion, carpal tunnel syndrome, dysostosis multiplex, small size, behavioural disorders and psychomotor regression leading to intellectual deficit, deafness, cardiac and respiratory disorders, and cutaneous signs, to mild (normal intelligence, milder dysmorphism and dysostoses).;

ICD-11 synonym : sulfoiduronidate sulfatase deficiency; Hunter syndrome; sulphoiduronidate sulphatase deficiency; iduronate 2-sulphatase deficiency; MPS2 - [mucopolysaccharidosis 2]; sulfo-iduronate sulfatase deficiency; iduronate sulfatase deficiency; mucopolysaccharidosis 2; Iduronate 2-sulfatase deficiency; iduronate sulphatase deficiency; sulpho-iduronate sulphatase deficiency;

ICD-11 acronym : MPS2;

ICD-11 inclusion : Hunter syndrome;

Details

Origin ID

1056274204;

UMLS CUI

C0026705;

Automatic exact mappings (from CISMeF team)
- iduronate 2-sulfatase [HGNC gene]
Currated CISMeF NLP mapping
- Hunter Syndrome [NCIt concept]
- Hunter syndrome [PASCAL descriptor]
- Hunter syndrome [Disease (Nov.)]
- Hunter's syndrome [MedDRA LLT]
- Mucopolysaccharidosis II [MedDRA Preferred Term]
- 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 [DO Concept]
- mucopolysaccharidosis II [MeSH concept]
- mucopolysaccharidosis ii [MeSH Descriptor]
- mucopolysaccharidosis, mps-ii [SNOMED Notion]
False automatic mappings
- Hunt's syndrome [MeSH concept]
- herpes zoster oticus [MeSH Descriptor]
- hunt's syndrome [MeSH Supplementary Concept]
ICD-10 Mapping
- Mucopolysaccharidosis, type II [ICD-10 Sub-category]
See also inter- (CISMeF)
- IDS wt Allele [NCIt concept]
- deficiency of iduronate-2-sulfatase [SNOMED Notion]
- iduronate 2-sulfatase [ORDO Gene]
- sulfoiduronate sulfatase deficiency [MeSH concept]
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 [ORDO Disease]
- Mucopolysaccharidosis type II (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type II [ICD-10 Sub-category]
- Mucopolysaccharidosis, type II [OMIM Phenotype]
- deficiency of iduronate-2-sulfatase [SNOMED Notion]
- mucopolysaccharidosis II [DO Concept]
- mucopolysaccharidosis II [MeSH concept]
- mucopolysaccharidosis ii [MeSH Descriptor]
- mucopolysaccharidosis, mps-ii [SNOMED Notion]

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