Autosomal recessive hereditary disorder
Disorder of mitochondrial respiratory chain complexes
Inherited metabolic disorder of nervous system
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Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome (disorder)
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Caused by homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.
syndroom van groeiachterstand, ontwikkelingsachterstand, hypotonie, verlies van gezichtsvermogen en lactaatacidose
syndroom van vertraagde groei en ontwikkeling, hypotonie, visuele beperking en melkzuuracidose
syndroom van groei- en ontwikkelingsachterstand, hypotonie, visuele beperking en lactaatacidose
Id774205007
StatusPrimitive
Finding siteStructure of nervous system
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified