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syndroom van hypoplasie van pancreas, darmatresie en hypoplasie van galblaas (aandoening)
syndroom van hypoplasie van pancreas, darmatresie en hypoplasie van galblaas
syndroom van hypoplastische pancreas, intestinale atresie en hypoplastische galblaas
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome
Hypoplastic pancreas, intestinal atresia, hypoplastic gallbladder syndrome
A rare potentially fatal genetic visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RFX6 gene on chromosome 6q22.
Id773673002
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van pancreas
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyatresie
Finding sitestructuur van intestinum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van vesica biliaris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ45.0
RuleTRUE
AdviceALWAYS Q45.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ41.9
RuleTRUE
AdviceALWAYS Q41.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ44.0
RuleTRUE
AdviceALWAYS Q44.0
CorrelationSNOMED CT source code to target map code correlation not specified