aspartylglucosaminuria

Preferred Label : aspartylglucosaminuria;

MeSH definition : A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.;

MeSH synonym : aspartylglucosaminurias; aspartylglycosaminuria; aspartylglycosaminurias; AGA deficiency; AGA deficiencies; deficiencies, AGA; deficiency, AGA; aspartylglucosamidase deficiency; aspartylglucosamidase deficiencies; deficiencies, aspartylglucosamidase; deficiency, aspartylglucosamidase; Glycoasparaginase Deficiency; Deficiencies, Glycoasparaginase; Deficiency, Glycoasparaginase; Glycoasparaginase Deficiencies;

CISMeF synonym : glycoasparaginase; glycoasparaginases;

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

Détails

Origin ID

D054880;

UMLS CUI

C0268225;

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)
- Hyperammonemia, type III (disorder) [SNOMED CT concept]
- N^4^(beta-N-Acetylglucosaminyl)-L-asparaginase (substance) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Aspartylglucosaminuria [PASCAL descriptor]
- Aspartylglucosaminuria [HPO term]
- Aspartylglucosaminuria [ICD-11 More detail]
- Aspartylglucosaminuria [MedDRA Preferred Term]
- Aspartylglucosaminuria [OMIM Phenotype]
- Aspartylglucosaminuria [ORDO Disease]
- Aspartylglucosaminuria (disorder) [SNOMED CT concept]
- Aspartylglycosaminuria [NCIt concept]
- Defects in glycoprotein degradation [ICD-10 Sub-category]
- Defects in glycoprotein degradation [ICD-10 Sub-category (who)]
- aspartylglucosaminuria [DO Concept]
- aspartylglucosaminuria [SNOMED Notion]
DO Cross reference
- aspartylglucosaminuria [DO Concept]
HPO term
- Aspartylglucosaminuria [HPO term]
Manual NTBT mappings (CISMeF)
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Oligosaccharidosis [ORDO Disease]
MeSH Descriptor(s) used for indexing
- aspartylglucosylaminase [MeSH Descriptor]
ORDO relation(s)
- Aspartylglucosaminuria [ORDO Disease]
Record concept(s)
- aspartylglucosaminuria [MeSH concept]
Related MeSH Supplementary Concept(s)
- aspartylglucosamidase (AGA) deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aspartylglucosaminuria [MedDRA Preferred Term]
- Aspartylglucosaminuria [OMIM Phenotype]
- Aspartylglucosaminuria [HPO term]
- Aspartylglucosaminuria [PASCAL descriptor]
- Aspartylglucosaminuria (disorder) [SNOMED CT concept]
- Aspartylglycosaminuria [NCIt concept]
- aspartylglucosaminuria [DO Concept]
- aspartylglucosaminuria [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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