mucopolysaccharidosis ii

Preferred Label : mucopolysaccharidosis ii;

MeSH definition : Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.;

MeSH synonym : gargoylism, hunter syndrome; hunter syndrome gargoylism; Mucopolysaccharidosis Type 2; hunter's syndrome; hunter syndrome; hunters syndrome; syndrome, hunter's; mucopolysaccharidosis 2; mucopolysaccharidosis type II; syndrome, hunter;

CISMeF synonym : hunter syndrome gargoylisms; gargoylisms, hunter syndrome; 2, Mucopolysaccharidosis Type; 2s, Mucopolysaccharidosis Type; deficiencies, iduronate 2-Sulfatase; deficiencies, iduronate sulfatase; deficiencies, sulfoiduronate sulfatase; iduronate 2-Sulfatase deficiencies; iduronate sulfatase deficiencies; iis, mucopolysaccharidosis; mucopolysaccharidosis iis; Mucopolysaccharidosis Type 2s; sulfatase deficiencies, iduronate; sulfatase deficiencies, sulfoiduronate; sulfatase deficiency, iduronate; sulfatase deficiency, sulfoiduronate; sulfoiduronate sulfatase deficiencies; Type 2, Mucopolysaccharidosis; Type 2s, Mucopolysaccharidosis;

Related MeSH term : sulfoiduronate sulfatase deficiency; Deficiency, Sulfoiduronate Sulfatase; Iduronate 2-Sulfatase Deficiency; Deficiency, Iduronate 2-Sulfatase; Iduronate 2 Sulfatase Deficiency; I2S Deficiency; Deficiency, I2S; Iduronate Sulfatase Deficiency; Deficiency, Iduronate Sulfatase;

MeSH annotation : DF: MPS II;

Wikipedia link : https://en.wikipedia.org/wiki/Iduronate 2-sulfatase deficiency;

Details

Origin ID

D016532;

UMLS CUI

C0026705;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Mucopolysaccharidosis [PASCAL descriptor]
- Mucopolysaccharidosis [ACR pathology]
- Mucopolysaccharidosis [ACR pathology]
- Mucopolysaccharidosis [NCIt concept]
- Scheie mucopolysaccharidosis [PASCAL descriptor]
- iduronate 2-sulfatase [ORDO Gene]
- iduronate 2-sulfatase [HGNC gene]
- mucopolysaccharidosis [Radlex concept]
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 [ICD-11 Sub-sub category]
- Mucopolysaccharidosis type 2 [ORDO Disease]
- Mucopolysaccharidosis type II (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type II [ICD-10 Sub-category (who)]
- Mucopolysaccharidosis, type II [ICD-10 Sub-category]
- Mucopolysaccharidosis, type II [OMIM Phenotype]
- deficiency of iduronate-2-sulfatase [SNOMED Notion]
- mucopolysaccharidosis II [DO Concept]
- mucopolysaccharidosis, mps-ii [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis II [DO Concept]
False automatic mappings
- Mucopolysaccharidosis I [MedDRA Preferred Term]
- Mucopolysaccharidosis III [MedDRA Preferred Term]
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]
MeSH Descriptor(s) used for indexing
- iduronate sulfatase [MeSH Descriptor]
ORDO relation(s)
- Mucopolysaccharidosis type 2 [ORDO Disease]
Record concept(s)
- mucopolysaccharidosis II [MeSH concept]
- sulfoiduronate sulfatase deficiency [MeSH concept]
See also
- iduronate sulfatase [MeSH Descriptor]
- mucopolysaccharidosis I [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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 [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 (who)]
- Mucopolysaccharidosis, type II [ICD-10 Sub-category]
- deficiency of iduronate-2-sulfatase [SNOMED Notion]
- mucopolysaccharidosis II [DO Concept]
- mucopolysaccharidosis, mps-ii [SNOMED Notion]
Validated automatic mappings to NTBT
- Mucopolysaccharidosis [ORDO Disease]
- Mucopolysaccharidosis [MedDRA Preferred Term]
- Mucopolysaccharidosis (disorder) [SNOMED CT concept]
- mucopolysaccharidosis, nos [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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