congenitale adrenale hyperplasie
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klassieke congenitale bijnierhyperplasie door 21-hydroxylasedeficiëntie (aandoening)
klassieke congenitale bijnierhyperplasie door 21-hydroxylasedeficiëntie
klassieke congenitale adrenale hyperplasie door 21-hydroxylasedeficiëntie
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism.
Id717261006
StatusDefined
Due todeficiëntie van steroïd-21-mono-oxygenase
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 map90794
SNOMED CT to ICD-10 extended map
TargetE25.0
RuleTRUE
AdviceALWAYS E25.0
CorrelationSNOMED CT source code to target map code correlation not specified
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21-hydroxylasedeficiëntie met zoutverlies
simpele viriliserende vorm van 21-hydroxylasedeficiëntie