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syndroom van spondylo-epifysaire dysplasie, myopie en sensoneurinale doofheid (aandoening)
syndroom van spondylo-epifysaire dysplasie, myopie en sensoneurinale doofheid
spondylo-epifysaire dysplasie type MacDermot
Spondyloepiphyseal dysplasia MacDermot type
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome
Spondyloepiphyseal dysplasia MacDermot type has characteristics of short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. The syndrome has been described in a family in which females in four successive generations were affected. Myopia and retinal detachment were present in adult life.
Id718763005
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ77.7
RuleTRUE
AdviceALWAYS Q77.7 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified