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syndroom van microtie, oogcoloboom en imperforatie van ductus nasolacrimalis (aandoening)
syndroom van microtie, oogcoloboom en imperforatie van ductus nasolacrimalis
syndroom van Balikova-Vermeesch
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
Balikova Vermeesch syndrome
Syndrome with the association of microtia, eye coloboma and imperforation of the nasolacrimal duct. So far, it has been described in only one family. The phenotype is associated with the presence of five copies of a copy-number-variable region (CNV) located at 4pter. This is the first example of an amplified CNV being associated with a Mendelian disorder. Transmission is autosomal dominant.
Id724139004
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van bulbus oculi
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyatresie
Finding sitestructuur van ductus nasolacrimalis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ17.2
RuleTRUE
AdviceALWAYS Q17.2
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ13.0
RuleTRUE
AdviceALWAYS Q13.0 | MAPPED FOLLOWING WHO GUIDANCE
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ10.4
RuleTRUE
AdviceALWAYS Q10.4
CorrelationSNOMED CT source code to target map code correlation not specified