5C50.02 Embryofetopathy due to maternal phenylketonuria

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Maternal phenylalaninaemia refers to developmental anomalies that may occur in offspring of women affected by phenylketonuria (PKU), and include fetal development disorders, including microcephaly, intrauterine growth retardation, and subsequent intellectual deficit, and embryo development disorders such as heart defects (usually conotruncal), corpus callosus agenesis, neuronal migration disorders, facial dysmorphism and more rarely cleft palate, tracheo-oesophageal abnormalities.

synonyms

• Embryofetopathy due to maternal phenylketonuria
• Maternal hyperphenylalaninaemia
• Phenylketonuric embryopathy
• Hyperphenylalaninaemic embryopathy
• Maternal phenylketonuria

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