| 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 | | 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. |
| | DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E25.0 | | Term | Congenitale adrenogenitale aandoeningen samenhangend met enzymdeficiëntie |
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| SNOMED CT to Orphanet simple map | 90794 |
| SNOMED CT to ICD-10 extended map | | Target | E25.0 | | Rule | TRUE | | Advice | ALWAYS E25.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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