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syndroom van anoftalmie, megalocornea, hartziekte en skeletafwijkingen (aandoening)
syndroom van anoftalmie, megalocornea, hartziekte en skeletafwijkingen
syndroom van Cassia-Stocco-dos Santos
syndroom van anoftalmie, megalocornea, hartafwijking en skeletafwijkingen
syndroom van anoftalmie, megalocornea, hartaandoening en skeletafwijkingen
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome
Cassia Stocco dos Santos syndrome
A multiple congenital anomalies syndrome reported in the offsprings of a consanguineous couple with characteristics of multiple congenital skeletal, muscular, ocular and cardiac abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.
Id720495005
StatusPrimitive
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified