Autosomal recessive hereditary disorder
Lactic acidosis
Mitochondrial cytopathy
Neonatal acidosis
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Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is 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
OccurrenceNeonatal
Due toDisorder of mitochondrial respiratory chain complexes
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE88.8
TermOverige gespecificeerde stofwisselingsstoornissen
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified