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syndroom van blefarofimose, ptose, esotropie, syndactylie en kleine gestalte (aandoening)
syndroom van blefarofimose, ptose, esotropie, syndactylie en kleine gestalte
syndroom van blefarofimose, ptosis, esotropie, syndactylie en kleine gestalte
syndroom van Frydman-Cohen-Karmon
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
Frydman Cohen Karmon syndrome
Syndrome with the association of blepharophimosis and ptosis, V-esotropia and weakness of extraocular and frontal muscles, syndactyly of the toes, short stature, prognathism, hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.
Id717914000
StatusPrimitive
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