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Descriptor English: Purine-Pyrimidine Metabolism, Inborn Errors
Descriptor Spanish: Errores Innatos del Metabolismo de la Purina-Pirimidina
Descriptor trastornos congénitos del metabolismo de la purina-pirimidina
Entry term(s) alteraciones congénitas del metabolismo de la purina-pirimidina
errores congénitos del metabolismo de la purina-pirimidina
trastorno congénito del metabolismo de la purina-pirimidina
Scope note: Disfunciones del metabolismo de las PURINAS o PIRIMIDINAS, debidas a mutaciones genéticas hereditarias o adquiridas intraútero.
Descriptor Portuguese: Erros Inatos do Metabolismo da Purina-Pirimidina
Descriptor French: Erreurs innées du métabolisme de la purine et de la pyrimidine
Entry term(s): Purine Pyrimidine Metabolism, Inborn Errors
Tree number(s): C16.320.565.798
C18.452.648.798
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D011686
Scope note: Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.
Annotation: coordinate with specific purine /metab or pyrimidine /metab
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 65
History Note: 65
Entry Version: PP METAB INBORN ERR
DeCS ID: 12122
Unique ID: D011686
NLM Classification: WD 205.5.P8
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1965/01/01
Date of Entry: 1999/01/01
Revision Date: 2016/07/06
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.
Preferred term Purine-Pyrimidine Metabolism, Inborn Errors
Entry term(s) Purine Pyrimidine Metabolism, Inborn Errors



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