mucopolysaccharidosis I

Preferred Label : mucopolysaccharidosis I;

MeSH definition : Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.; A group of autosomal recessive lysosomal storage disorders caused by mutations in the gene encoding the enzyme, alpha-L-iduronidase (IDUA), required for the degradation of heparan and dermatan sulfates. This leads to abnormal accumulation of these glycosaminoglycans in various tissues causing a wide range of clinical presentations including cognitive and musculoskeletal disorders.;

MeSH synonym : lipochondrodystrophies; lipochondrodystrophy; mucopolysaccharidosis 1; mucopolysaccharidosis type I;

CISMeF synonym : Hurler; Scheie; type I, mucopolysaccharidosis; type is, mucopolysaccharidosis; deficiencies, alpha-L-Iduronidase; deficiency, alpha-L-Iduronidase; disease, hurler; hurlers disease; hurlers syndrome; mucopolysaccharidosis type Ih/S; mucopolysaccharidosis type Ih/Ss; pfaundler hurler syndrome; syndrome, Hurler-Scheie; syndrome, Pfaundler-Hurler; syndrome, hurler; syndrome, scheie; type Ih/S, mucopolysaccharidosis; type Ih/Ss, mucopolysaccharidosis; mucopolysaccharidosis IS;

MeSH hyponym : syndromes, scheie; scheie syndrome; Hurler-Scheie syndrome; Scheie's Syndrome; Syndrome, Scheie's; Mucopolysaccharidosis Type Is; Mucopolysaccharidosis I-S; Mucopolysaccharidosis I S; Mucopolysaccharidosis V; Mucopolysaccharidosis 5; Hurler Scheie Syndrome; Mucopolysaccharidosis Type Ih S;

CISMeF hyponym : mps i h s; mps i h-s; mps i-s; mps i s;

Related MeSH term : hurler syndrome; alpha-L-Iduronidase deficiency; Hurler's Disease; Disease, Hurler's; Hurler's Syndrome; Syndrome, Hurler's; Gargoylism; Gargoylisms; Gargoylism, Hurler Syndrome; Hurler Syndrome Gargoylism; Mucopolysaccharidosis Type Ih; Mucopolysaccharidosis Type Ihs; Type Ih, Mucopolysaccharidosis; Type Ihs, Mucopolysaccharidosis; Hurler Disease; Pfaundler-Hurler Syndrome; alpha L Iduronidase Deficiency; alpha-L-Iduronidase Deficiencies;

MeSH annotation : DF: MPS I;

Wikipedia link : https://en.wikipedia.org/wiki/Mucopolysaccharidosis i;

Related CISMeF synonym : mps i h;

Details

Origin ID

D008059;

UMLS CUI

C0023786;

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)
- Hurler syndrome [PASCAL descriptor]
- Hurler syndrome [ORDO Disease]
- Hurler syndrome [Radlex concept]
- Hurler syndrome [OMIM Phenotype]
- Hurler's disease [MedDRA LLT]
- Hurler's syndrome [MedDRA LLT]
- Hurler-Scheie syndrome [ORDO Disease]
- Hurler-Scheie syndrome [MedDRA LLT]
- Hurler-scheie syndrome [OMIM Phenotype]
- IDUA wt Allele [NCIt concept]
- MPS I H [MedDRA LLT]
- Mucopolysaccharidosis [NCIt concept]
- Mucopolysaccharidosis [ORDO Disease]
- Mucopolysaccharidosis [MedDRA Preferred Term]
- Mucopolysaccharidosis [PASCAL descriptor]
- Mucopolysaccharidosis [ICD-9 code]
- Mucopolysaccharidosis [ACR pathology]
- Mucopolysaccharidosis [ACR pathology]
- Mucopolysaccharidosis (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis IH/S [MedDRA LLT]
- Mucopolysaccharidosis IS [MedDRA LLT]
- Mucopolysaccharidosis V [MedDRA Preferred Term]
- Mucopolysaccharidosis type I [LOINC component]
- Mucopolysaccharidosis type I-H (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis type I-H/S (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis type I-S (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type II [OMIM Phenotype]
- Scheie Syndrome [NCIt concept]
- Scheie mucopolysaccharidosis [PASCAL descriptor]
- Scheie syndrome [ORDO Disease]
- Scheie syndrome [DO Concept]
- Scheie syndrome [OMIM Phenotype]
- Scheie's syndrome [MedDRA LLT]
- Screaming syndrome [MedDRA LLT]
- Syndrome screaming [MedDRA LLT]
- alpha-L-iduronidase [HGNC gene]
- mucopolysaccharidosis [DO Concept]
- mucopolysaccharidosis [Radlex concept]
- mucopolysaccharidosis Ih [DO Concept]
- mucopolysaccharidosis, mps-i-h [SNOMED Notion]
Currated CISMeF NLP mapping
- Alpha-L-iduronidase deficiency [MedDRA LLT]
- Mucopolysaccharidosis I [MedDRA Preferred Term]
- Mucopolysaccharidosis Type I [NCIt concept]
- Mucopolysaccharidosis type 1 [ICD-11 Sub-sub category]
- Mucopolysaccharidosis type 1 [ORDO Disease]
- Mucopolysaccharidosis type I (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type I [ICD-10 Sub-category]
- Mucopolysaccharidosis, type I [ICD-10 Sub-category (who)]
- mucopolysaccharidosis 1 [Disease (Nov.)]
- mucopolysaccharidosis I [DO Concept]
- mucopolysaccharidosis, mps-i [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis I [DO Concept]
- mucopolysaccharidosis Ih [DO Concept]
- mucopolysaccharidosis Ih/s [DO Concept]
HPO term
- Dysostosis multiplex [HPO term]
Manual NTBT mappings (CISMeF)
- Eyebrow hypertrophy [ORDO Disease]
- Lysosomal disease with hypertrophic cardiomyopathy [ORDO Disease]
- Lysosomal disease with restrictive cardiomyopathy [ORDO Disease]
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- Metabolic disease with corneal opacity [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
ORDO relation(s)
- Mucopolysaccharidosis type 1 [ORDO Disease]
Record concept(s)
- Hurler-Scheie syndrome [MeSH concept]
- alpha-L-Iduronidase deficiency [MeSH concept]
- hurler syndrome [MeSH concept]
- mucopolysaccharidosis I [MeSH concept]
- scheie syndrome [MeSH concept]
See also
- iduronidase [MeSH Descriptor]
- mucopolysaccharidosis ii [MeSH Descriptor]
See also inter- (CISMeF)
- Hurler syndrome [Disease (Nov.)]
- Hurler syndrome [ORDO Disease]
- Hurler-Scheie syndrome [ORDO Disease]
- Scheie syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucopolysaccharidosis I [MedDRA Preferred Term]
- Mucopolysaccharidosis Type I [NCIt concept]
- Mucopolysaccharidosis type I [LOINC component]
- Mucopolysaccharidosis type I (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type I [ICD-10 Sub-category (who)]
- Mucopolysaccharidosis, type I [ICD-10 Sub-category]
- mucopolysaccharidosis 1 [Disease (Nov.)]
- mucopolysaccharidosis I [DO Concept]
- mucopolysaccharidosis, mps-i [SNOMED Notion]
Validated automatic mappings to BTNT
- Hurler Syndrome [NCIt concept]
- Hurler-Scheie Syndrome [NCIt concept]
- Hurler-Scheie syndrome [Disease (Nov.)]
- Mucopolysaccharidosis type 1H [ICD-11 More detail]
- Mucopolysaccharidosis type 1H/S [ICD-11 More detail]
- Mucopolysaccharidosis type 1S [ICD-11 More detail]
- Scheie syndrome [Disease (Nov.)]
Validated automatic mappings to NTBT
- Hurler syndrome [ORDO Disease]
- Hurler-Scheie syndrome [ORDO Disease]
- Mucopolysaccharidosis [ICD-11 Subcategory]
- Scheie syndrome [ORDO Disease]
- mucopolysaccharidosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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