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'contiguous' ABCD1-DXS1357E-deletiesyndroom (aandoening)
'contiguous' ABCD1-DXS1357E-deletiesyndroom
Zellweger-achtig syndroom met deletie van aangrenzende genen ABCD1 en DXS1357E
contiguous ABCD1 DXS1357E deletion syndrome
CADDS
Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome
CADDS - contiguous ABCD1 DXS1357E deletion syndrome
A rare genetic neurometabolic disease with characteristics of severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (for example blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed central nervous system myelination and ventriculomegaly).
Id773415005
StatusPrimitive
Finding sitestructuur van lever
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified