defect van galzuursynthese
|
Cytochrome P450 family 7 subfamily B member 1 gene related oxysterol 7-alpha-hydroxylase deficiency (disorder)
CYP7B1 gene related oxysterol 7-alpha-hydroxylase deficiency
Cytochrome P450 family 7 subfamily B member 1 gene related oxysterol 7-alpha-hydroxylase deficiency
Id1411484006
StatusPrimitive
Occurrencecongenitaal
Finding sitestructuur van lever
SNOMED CT to ICD-10 extended map
TargetK76.8
RuleTRUE
AdviceALWAYS K76.8
CorrelationSNOMED CT source code to target map code correlation not specified
|
autosomaal recessieve spastische paraplegie type 5A
congenitaal defect van galzuursynthese type 3