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syndroom van microftalmie met afwijking van hersenen en digitus (aandoening)
syndroom van microftalmie met afwijking van hersenen en digitus
microftalmie met afwijking van hersenen en afwijking van vinger of teen
Bakrania-Ragge-syndroom
syndroom van Bakrania-Ragge
Microphthalmia with brain and digit anomaly
Bakrania Ragge syndrome
Syndromic microphthalmia type 6
This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.
Id721878003
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetQ11.2
RuleTRUE
AdviceALWAYS Q11.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified