defect van galzuursynthese
hypercholesterolemie
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hypercholesterolemie door deficiëntie van cholesterol-7-alfa-hydroxylase (aandoening)
hypercholesterolemie door deficiëntie van cholesterol-7-alfa-hydroxylase
hypercholesterolemie door cholesterol-7-alfa-hydroxylasedeficiëntie
hypercholesterolemie door CYP7A1-deficiëntie
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
A rare sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.
Id773726000
StatusPrimitive
Finding sitestructuur van lever
Has interpretationboven referentiebereik
Interpretsbepalen van totaal cholesterol in serum
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE78.0
TermZuivere hypercholesterolemie
SNOMED CT to Orphanet simple map209902
SNOMED CT to ICD-10 extended map
TargetE78.0
RuleTRUE
AdviceALWAYS E78.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified