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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.
Id715733000
StatusPrimitive
Associated morphologyhyperplasie
Finding sitestructuur van bijnierschors
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE25.0
TermCongenitale adrenogenitale aandoeningen samenhangend met enzymdeficiëntie
SNOMED CT to Orphanet simple map95699
SNOMED CT to ICD-10 extended map
TargetE25.0
RuleTRUE
AdviceALWAYS E25.0
CorrelationSNOMED CT source code to target map code correlation not specified