|
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 rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency.
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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified