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syndroom van aplasia cutis en myopie (aandoening)
syndroom van aplasia cutis en myopie
syndroom van Gershoni-Baruch-Leibo
Aplasia cutis with myopia syndrome
Gershoni Baruch Leibo syndrome
This syndrome has characteristics of the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.
Id720499004
StatusPrimitive
Associated morphologyaplasia
Finding sitegedeelte van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ84.8
RuleTRUE
AdviceALWAYS Q84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH52.1
RuleTRUE
AdviceALWAYS H52.1
CorrelationSNOMED CT source code to target map code correlation not specified