mucopolysaccharidoses

Preferred Label : mucopolysaccharidoses;

MeSH definition : Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.;

MeSH synonym : mucopolysaccharidosis;

MeSH annotation : lysosomal storage dis; types I through VII except V are available as main headings: V MUCOPOLYSACCHARIDOSIS V see MUCOPOLYSACCHARIDOSIS I; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

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

Details

Origin ID

D009083;

UMLS CUI

C0026703;

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)
- Mucopolysaccharidoses [OMIM phenotypic series]
- Mucopolysaccharidosis [ACR pathology]
- Mucopolysaccharidosis [ACR pathology]
- Mucopolysaccharidosis I [MedDRA Preferred Term]
- Mucopolysaccharidosis II [MedDRA Preferred Term]
- Mucopolysaccharidosis III [MedDRA Preferred Term]
- Mucopolysaccharidosis IS [MedDRA LLT]
- Other mucopolysaccharidoses [ICD-10 Sub-category (who)]
- Scheie mucopolysaccharidosis [PASCAL descriptor]
- carbohydrate metabolism disorders [MedlinePlus Topic]
- metabolic disorders [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Abnormality of glycosaminoglycan metabolism [HPO term]
- Disorder of glycosaminoglycan metabolism (disorder) [SNOMED CT concept]
- Disorders of glycosaminoglycan metabolism [ICD-10 category]
- Disorders of glycosaminoglycan metabolism [ICD-10 category (who)]
- Mucopolysaccharidosis [PASCAL descriptor]
- Mucopolysaccharidosis [ICD-11 Subcategory]
- Mucopolysaccharidosis [ICD-9 code]
- Mucopolysaccharidosis [MedDRA Preferred Term]
- Mucopolysaccharidosis [NCIt concept]
- Mucopolysaccharidosis [ORDO Disease]
- Mucopolysaccharidosis (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis NOS [MedDRA LLT]
- Mucopolysaccharidosis, unspecified [ICD-10 Sub-category (who)]
- Mucopolysaccharidosis, unspecified [ICD-10 Sub-category]
- mucopolysaccharidosis [DO Concept]
- mucopolysaccharidosis [Disease (Nov.)]
- mucopolysaccharidosis [Radlex concept]
- mucopolysaccharidosis, nos [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis [DO Concept]
Manual BTNT mappings - CISMeF
- Hyaluronidase deficiency [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Developmental anomaly of metabolic origin [ORDO Disease]
- Rare disease with glaucoma as a major feature [ORDO Disease]
MedlinePlus topic(s)
- metabolic disorders [MedlinePlus Topic]
ORDO relation(s)
- Mucopolysaccharidosis [ORDO Disease]
Record concept(s)
- mucopolysaccharidoses [MeSH concept]
Related MeSH Supplementary Concept(s)
- hyaluronidase deficiency [MeSH Supplementary Concept]
- mucopolysaccharidoses, unclassified types [MeSH Supplementary Concept]
- mucopolysaccharidosis type VIII [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucopolysaccharidosis [MedDRA Preferred Term]
- Mucopolysaccharidosis [ICD-9 code]
- Mucopolysaccharidosis [ORDO Disease]
- Mucopolysaccharidosis [PASCAL descriptor]
- Mucopolysaccharidosis [LOINC component]
- Mucopolysaccharidosis [NCIt concept]
- Mucopolysaccharidosis (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis NOS [MedDRA LLT]
- Mucopolysaccharidosis, unspecified [ICD-10 Sub-category (who)]
- Mucopolysaccharidosis, unspecified [ICD-10 Sub-category]
- mucopolysaccharidosis [Radlex concept]
- mucopolysaccharidosis [DO Concept]
- mucopolysaccharidosis [Disease (Nov.)]
- mucopolysaccharidosis, nos [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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