ICD-11 code : 5C50.02;
Preferred Label : Embryofetopathy due to maternal phenylketonuria;
ICD-11 definition : Maternal phenylalaninemia 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-esophageal abnormalities.;
ICD-11 synonym : Phenylketonuric embryopathy; Maternal hyperphenylalaninaemia; Maternal phenylketonuria; Hyperphenylalaninaemic embryopathy;
Origin ID : 1509230254;
Automatic exact mappings (from CISMeF team)
- ICD-10 Mapping
- See also inter- (CISMeF)
Maternal phenylalaninemia 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-esophageal abnormalities.
