Congenital adrenal hyperplasia
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Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
The most common form of congenital adrenal hyperplasia, divided into 2 clinical groups simple virilizing or salt wasting forms. Manifests with genital ambiguity in females and with adrenal insufficiency in both sexes. Girls present with ambiguous genitalia and the extent of virilization can vary from a nearly male appearance to minimal clitoromegaly. A normal uterus and various degrees of abnormal vaginal development are seen. The external genitalia in boys are normal. The disease is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3. Follows an autosomal recessive pattern of inheritance.
klassieke congenitale bijnierhyperplasie door 21-hydroxylasedeficiëntie
klassieke congenitale adrenale hyperplasie door 21-hydroxylasedeficiëntie
Id717261006
StatusDefined
Due toDeficiency of steroid 21-monooxygenase
Associated morphologyHyperplasia
Finding siteAdrenal cortex structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE25.0
RuleTRUE
AdviceALWAYS E25.0
CorrelationSNOMED CT source code to target map code correlation not specified
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Steroid 21-monooxygenase deficiency, salt wasting type
Steroid 21-monooxygenase deficiency, simple virilizing type