||||||||||
syndroom van pancreasinsufficiëntie, dyserytropoëtische anemie en hyperostose van calvaria (aandoening)
syndroom van pancreasinsufficiëntie, dyserytropoëtische anemie en hyperostose van calvaria
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome
This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. It has been described in four children, three boys and one girl, from two consanguineous families. The disease is due to a mutation in the COX4I2 gene, encoding a mitochondrial cytochrome C oxidase sub-unit. Transmission is autosomal recessive.
Id722207000
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van calvaria
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Finding siteerytrocyt
referentieset met complexe 'mapping' naar ICD-10
TargetK86.8
RuleTRUE
AdviceALWAYS K86.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD64.4
RuleTRUE
AdviceALWAYS D64.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ75.8
RuleTRUE
AdviceALWAYS Q75.8
CorrelationSNOMED CT source code to target map code correlation not specified