congenitale bijnierhyperplasie door cytochroom P450-oxidoreductasedeficiëntie (aandoening)
congenitale bijnierhyperplasie door cytochroom P450-oxidoreductasedeficiëntie
aangeboren adrenale hyperplasie door cytochroom POR-deficiëntie
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
A unique form of congenital adrenal hyperplasia characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilization of external genitalia in girls and undervirilization in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance.
Associated morphologyhyperplasie
Finding sitestructuur van bijnierschors
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS E25.0
CorrelationSNOMED CT source code to target map code correlation not specified