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agenesie van chiasma opticum (aandoening)
agenesie van chiasma opticum
congenitale afwezigheid van chiasma opticum
aangeboren afwezigheid van chiasma opticum
Congenital achiasma
Congenital absence of optic chiasma
A rare genetic non-syndromic cranial nerve and nuclear aplasia malformation. The disease is characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.
Id734031008
StatusDefined
Associated morphologyafwezigheid
Finding sitegeheel chiasma opticum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH47.4
TermAandoeningen van chiasma opticum
SNOMED CT to Orphanet simple map324353
SNOMED CT to ICD-10 extended map
TargetH47.4
RuleTRUE
AdviceALWAYS H47.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified