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Purine-Pyrimidine Metabolism, Inborn Errors
MeSH Descriptor Data 2025
Details
Qualifiers
MeSH Tree Structures
Concepts
MeSH Heading
Purine-Pyrimidine Metabolism, Inborn Errors
Tree Number(s)
C16.320.565.798
C18.452.648.798
Unique ID
D011686
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D011686
Annotation
coordinate with specific purine
/metab
or pyrimidine
/metab
Scope Note
Dysfunctions in the metabolism of
PURINES
or
PYRIMIDINES
resulting from inborn genetic mutations that are inherited or acquired in utero.
Entry Version
PP METAB INBORN ERR
Entry Term(s)
Purine Pyrimidine Metabolism, Inborn Errors
NLM Classification #
QU 265.5.P8
Public MeSH Note
65
History Note
65
Date Established
1965/01/01
Date of Entry
1999/01/01
Revision Date
2016/07/06
Allowable Qualifiers
blood (BL)
cerebrospinal fluid (CF)
chemically induced (CI)
classification (CL)
complications (CO)
diagnosis (DI)
diagnostic imaging (DG)
diet therapy (DH)
drug therapy (DT)
economics (EC)
embryology (EM)
enzymology (EN)
epidemiology (EP)
ethnology (EH)
etiology (ET)
genetics (GE)
history (HI)
immunology (IM)
metabolism (ME)
microbiology (MI)
mortality (MO)
nursing (NU)
parasitology (PS)
pathology (PA)
physiopathology (PP)
prevention & control (PC)
psychology (PX)
radiotherapy (RT)
rehabilitation (RH)
surgery (SU)
therapy (TH)
urine (UR)
veterinary (VE)
virology (VI)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
Amino Acid Transport Disorders, Inborn [C16.320.565.151]
Amyloidosis, Familial [C16.320.565.176]
Brain Diseases, Metabolic, Inborn [C16.320.565.189]
Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
Cytochrome-c Oxidase Deficiency [C16.320.565.240]
Hyperbilirubinemia, Hereditary [C16.320.565.300]
Lipid Metabolism, Inborn Errors [C16.320.565.398]
Lysosomal Storage Diseases [C16.320.565.595]
Metal Metabolism, Inborn Errors [C16.320.565.618]
Peroxisomal Disorders [C16.320.565.663]
Progeria [C16.320.565.753]
Purine-Pyrimidine Metabolism, Inborn Errors [C16.320.565.798]
Dihydropyrimidine Dehydrogenase Deficiency [C16.320.565.798.183]
Gout [C16.320.565.798.368]
Lesch-Nyhan Syndrome [C16.320.565.798.594]
Renal Tubular Transport, Inborn Errors [C16.320.565.893]
Steroid Metabolism, Inborn Errors [C16.320.565.925]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Metabolism, Inborn Errors [C18.452.648]
Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
Amino Acid Transport Disorders, Inborn [C18.452.648.151]
Amyloidosis, Familial [C18.452.648.176]
Brain Diseases, Metabolic, Inborn [C18.452.648.189]
Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
Hyperbilirubinemia, Hereditary [C18.452.648.300]
Lipid Metabolism, Inborn Errors [C18.452.648.398]
Lysosomal Storage Diseases [C18.452.648.595]
Metal Metabolism, Inborn Errors [C18.452.648.618]
Peroxisomal Disorders [C18.452.648.663]
Progeria [C18.452.648.753]
Purine-Pyrimidine Metabolism, Inborn Errors [C18.452.648.798]
Dihydropyrimidine Dehydrogenase Deficiency [C18.452.648.798.183]
Gout [C18.452.648.798.368]
Lesch-Nyhan Syndrome [C18.452.648.798.594]
Renal Tubular Transport, Inborn Errors [C18.452.648.893]
Steroid Metabolism, Inborn Errors [C18.452.648.925]
Expand All
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Purine-Pyrimidine Metabolism, Inborn Errors
Preferred
Concept UI
M0018168
Scope Note
Dysfunctions in the metabolism of
PURINES
or
PYRIMIDINES
resulting from inborn genetic mutations that are inherited or acquired in utero.
Terms
Purine-Pyrimidine Metabolism, Inborn Errors
Preferred Term
Term UI
T034554
Date
01/01/1999
LexicalTag
NON
ThesaurusID
NLM (1965)
Purine Pyrimidine Metabolism, Inborn Errors
Term UI
T034553
Date
01/09/1978
LexicalTag
NON
ThesaurusID
UNK (19XX)
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