Axonal neuropathy
Developmental hereditary disorder
Global developmental delay
Hereditary degenerative disease of central nervous system
Hereditary metabolic disease
Inherited optic neuropathy
Mitochondrial cytopathy
Optic atrophy
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Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
Ocular anomalies, axonal neuropathy, developmental delay syndrome
Harel Yoon syndrome
A rare mitochondrial disease with signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.
syndroom van oogafwijking, axonale neuropathie en ontwikkelingsachterstand
Harel-Yoon-syndroom
syndroom van Harel-Yoon
Id1172586007
StatusPrimitive
Pathological processPathological developmental process
Associated morphologyAtrophy
Finding siteOptic nerve structure
Finding siteAxon structure
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