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Eiken-syndroom (aandoening)
Eiken-syndroom
syndroom van Eiken
Eiken syndrome
A rare familial skeletal dysplasia with characteristics of multiple epiphyseal dysplasia with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. A mutation in PTHR1 gene is responsible for this syndrome. Transmission is autosomal recessive.
Id720863002
StatusPrimitive
Associated morphologyosteopenie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van epiphysis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetQ77.3
RuleTRUE
AdviceALWAYS Q77.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetM85.89
RuleTRUE
AdviceALWAYS M85.89
CorrelationSNOMED CT source code to target map code correlation not specified