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syndroom van afwezige tibia, polydactylie en arachnoïdale cyste (aandoening)
syndroom van afwezige tibia, polydactylie en arachnoïdale cyste
syndroom van Holmes-Collins
Absent tibia, polydactyly, arachnoid cyst syndrome
Holmes Collins syndrome
A very rare constellation of multiple anomalies including absence or hypoplasia of the tibia. It has been described in 3 siblings (two males and one female). The syndrome has characteristics of the absence or hypoplasia of the tibia, pre and postaxial polydactyly of the hands and/or feet, syndactyly of the toes, shortening and bowing of other long bones, and retrocerebellar arachnoid cyst. Parental consanguinity reported in the family suggests an autosomal recessive pattern of inheritance.
Id733068001
StatusPrimitive
Associated morphologyarachnoïdale cyste
Finding sitestructuur van arachnoidea
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitebotstructuur van tibia
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ72.5
RuleTRUE
AdviceALWAYS Q72.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ69.9
RuleTRUE
AdviceALWAYS Q69.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ04.6
RuleTRUE
AdviceALWAYS Q04.6
CorrelationSNOMED CT source code to target map code correlation not specified