| Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder) | | 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. | | aangeboren lipoïde adrenale hyperplasie door deficiëntie van 'steroidogenic acute regulatory protein' | | congenitale lipoïde bijnierhyperplasie door STAR-deficiëntie
CLAH
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| | Id | 717260007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | 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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