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syndroom van oogafwijking, axonale neuropathie en ontwikkelingsachterstand (aandoening)
syndroom van oogafwijking, axonale neuropathie en ontwikkelingsachterstand
syndroom van Harel-Yoon
Harel-Yoon-syndroom
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.
Id1172586007
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van nervus opticus
Finding sitestructuur van axon
SNOMED CT to Orphanet simple map496790
SNOMED CT to ICD-10 extended map
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