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aangeboren lipoïde adrenale hyperplasie door deficiëntie van 'steroidogenic acute regulatory protein' (aandoening)
aangeboren lipoïde adrenale hyperplasie door deficiëntie van 'steroidogenic acute regulatory protein'
congenitale lipoïde bijnierhyperplasie door STAR-deficiëntie
CLAH
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.
Id717260007
StatusPrimitive
Associated morphologyhyperplasie
Finding sitestructuur van bijnierschors
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetE25.0
RuleTRUE
AdviceALWAYS E25.0
CorrelationSNOMED CT source code to target map code correlation not specified
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