Concept information
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Genetic Diseases, Inborn
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Phenylketonurias
Preferred term
Phenylketonuria, Maternal
Definition(s)
- A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)
Broader concept(s)
Synonym(s)
- Maternal Phenylalanine Hydroxylase Deficiency Disease
- Maternal Phenylketonuria
- Phenylalanine-Hydroxylase Deficiency Disease, Maternal
- PKU, Maternal
- Pregnancy in Phenylketonuria
Allowable Qualifier(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
In other languages
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French
-
Déficit maternel en phénylalanine hydroxylase
-
Grossesse et phénylcétonurie
-
Hyperphénylalaninémie maternelle
-
PCU maternelle
-
Phénylcétonurie et grossesse
URI
http://data.loterre.fr/ark:/67375/JVR/M0025897
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