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passagère infantiele hypertriglyceridemie en hepatosteatose (aandoening)
passagère infantiele hypertriglyceridemie en hepatosteatose
transiënte infantiele hypertriglyceridemie en hepatosteatose
voorbijgaande infantiele hypertriglyceridemie en hepatosteatose
Transient infantile hypertriglyceridemia and hepatosteatosis
Transient infantile hypertriglyceridemia and fatty liver
A rare genetic hepatic disease characterized by massive hepatomegaly, moderate to severe transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis) manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age. Caused by homozygous or compound heterozygous mutation in the GPD1 gene on chromosome 12q13.
Id773649005
StatusPrimitive
Associated morphologyvettige degeneratie
Finding sitestructuur van lever
Occurrencezuigelingenperiode
Has interpretationboven referentiebereik
Interpretsbepalen van lipiden
Clinical coursetransitoir
referentieset met complexe 'mapping' naar ICD-10
TargetP74.8
RuleTRUE
AdviceALWAYS P74.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetK76.0
RuleTRUE
AdviceALWAYS K76.0
CorrelationSNOMED CT source code to target map code correlation not specified