Hunter Syndrome

Preferred Label : Hunter Syndrome;

NCIt synonyms : Mucopolysaccharidosis Type II;

NCIt definition : An X-linked, inherited lysosomal storage disease caused by the deficiency of the enzyme iduronate sulfatase that is responsible for the degradation of mucopolysaccharides. It nearly always affects males and is characterized by the accumulation of mucopolysaccharides in various organs, resulting in mental dysfunction, enlarged abdomen, hearing loss, obstructive airway disease, heart disease, and hepatosplenomegaly.;

Details

Origin ID

C61260;

UMLS CUI

C0026705;

Automatic exact mappings (from CISMeF team)
- Hunt's syndrome [MeSH concept]
- herpes zoster oticus [MeSH Descriptor]
- hunt's syndrome [MeSH Supplementary Concept]
- iduronate 2-sulfatase [ORDO Gene]
- iduronate 2-sulfatase [HGNC gene]
Currated CISMeF NLP mapping
- 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 2 [ICD-11 Sub-sub category]
- Mucopolysaccharidosis type II (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type II [ICD-10 Sub-category (who)]
- Mucopolysaccharidosis, type II [OMIM Phenotype]
- Mucopolysaccharidosis, type II [ICD-10 Sub-category]
- mucopolysaccharidosis II [MeSH concept]
- mucopolysaccharidosis II [DO Concept]
- mucopolysaccharidosis ii [MeSH Descriptor]
- mucopolysaccharidosis, mps-ii [SNOMED Notion]
- sulfoiduronate sulfatase deficiency [MeSH concept]
DO Cross reference
- mucopolysaccharidosis II [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hunter syndrome [PASCAL descriptor]
- Hunter syndrome [Disease (Nov.)]
- 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 [ICD-10 Sub-category]
- Mucopolysaccharidosis, type II [OMIM Phenotype]
- Mucopolysaccharidosis, type II [ICD-10 Sub-category (who)]
- deficiency of iduronate-2-sulfatase [SNOMED Notion]
- mucopolysaccharidosis II [DO Concept]
- mucopolysaccharidosis II [MeSH concept]
- mucopolysaccharidosis ii [MeSH Descriptor]
- mucopolysaccharidosis, mps-ii [SNOMED Notion]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- IDS Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- IDS Gene [NCIt concept]
- IDS wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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