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Polymicrogyria with optic nerve hypoplasia (disorder)
Polymicrogyria with optic nerve hypoplasia
Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.
Id771336003
StatusPrimitive
Associated morphologyAbnormal smallness
Finding siteStructure of gyrus of brain
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHypoplasia
Finding siteOptic nerve structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationImpaired
InterpretsIntellectual ability
Has interpretationImpaired
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ04.3
TermOverige onderontwikkeling van hersenen
TargetH47.0
TermAandoeningen van nervus opticus, niet elders geclassificeerd
SNOMED CT to ICD-10 extended map
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ07.8
RuleTRUE
AdviceALWAYS Q07.8
CorrelationSNOMED CT source code to target map code correlation not specified