| aangeboren lipoïde adrenale hyperplasie door deficiëntie van 'steroidogenic acute regulatory protein' (aandoening) | | aangeboren lipoïde adrenale hyperplasie door deficiëntie van 'steroidogenic acute regulatory protein' | | CLAH
congenitale lipoïde bijnierhyperplasie door STAR-deficiëntie
| | Congenital lipoid adrenal hyperplasia due to STAR deficiency | | Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
| | One of the most severe forms of congenital adrenal hyperplasia, it is extremely rare. Congenital anomalies are typically seen in the perinatal period. Boys are not virilized and demonstrate a complete girl phenotype. The external genitalia of girls are normal. Hypoglycemic seizures, vomiting or symptoms of dehydration are common manifestations. This disease is due to a mutation in the STAR gene, which encodes for a protein that regulates steroid hormone synthesis. The disease follows an autosomal recessive pattern of inheritance. |
| | Id | 717260007 | | Status | Primitive |
| 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 | 90790 |
| 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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