|||||
ernstige neonatale lactaatacidose door deficiëntie van NFS1-ISD11-complex (aandoening)
ernstige neonatale lactaatacidose door deficiëntie van NFS1-ISD11-complex
ernstige neonatale lactaatacidose door NFS1-ISD11-complexdeficiëntie
ernstige neonatale melkzuuracidose door NFS1-ISD11-complexdeficiëntie
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
A rare hereditary mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.
Id773423007
StatusPrimitive
Occurrenceneonataal
referentieset met complexe 'mapping' naar ICD-10
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified