Embryofetopathy due to maternal phenylketonuria

Description

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.

Index terms

Embryofetopathy due to maternal phenylketonuria
Hyperphenylalaninaemic embryopathy
Maternal hyperphenylalaninaemia

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Maternal phenylketonuria
Phenylketonuric embryopathy

Exclusions from above levels

http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
5A71.01 – Congenital adrenal hyperplasia

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5A81.1 – 5-alpha-reductase deficiency
LD28.01 – Marfan syndrome
LD28.1 – Ehlers-Danlos syndrome
LD2A.4 – androgen resistance syndrome
18 – Pregnancy, childbirth or the puerperium
http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

5C50.00 – Classical phenylketonuria
5C50.01 – Nonclassical phenylketonuria
5C50.0Y – Other specified phenylketonuria
5C50.0Z – Phenylketonuria, unspecified

Foundation entity

Embryofetopathy due to maternal phenylketonuria – http://id.who.int/icd/entity/1509230254

Part of: 5C50.0: Phenylketonuria › 5C50: Inborn errors of amino acid or other organic acid metabolism › 05: Endocrine, nutritional or metabolic diseases