Autosomal recessive hereditary disorder
Autosomal recessive hereditary disorder
Synthetic defect of bile acids
Synthetic defect of bile acids
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Congenital bile acid synthesis defect type 3 (disorder)
Congenital bile acid synthesis defect type 3
Oxysterol 7-alpha hydroxylase deficiency
A severe anomaly of bile acid synthesis with manifestation of severe neonatal cholestatic liver disease. To date, only 2 cases of this disorder have been reported. Caused by mutations in the 7-alpha hydroxylase gene (CYP7B1, 8q21.3). The deficiency in oxysterol 7-alpha-hydroxylation leads to the accumulation of hepatotoxic unsaturated monohydroxy bile acids. The mode of transmission is presumed to be autosomal recessive.
congenitaal defect van galzuursynthese type 3
aangeboren galzuursynthesedefect type 3
Id719454003
StatusPrimitive
Finding siteLiver structure
Finding siteLiver structure
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetK76.8
RuleTRUE
AdviceALWAYS K76.8
CorrelationSNOMED CT source code to target map code correlation not specified