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distale artrogrypose type 5 (aandoening)
distale artrogrypose type 5
artrogrypose met oculomotorische beperking en elektroretinale anomalie
distale artrogrypose met oftalmoplegie
oculomelic amyoplasia
arthrogryposis-oftalmoplegie-retinopathie
Arthrogryposis with oculomotor limitation and electroretinal anomaly
Oculomelic amyoplasia
Distal arthrogryposis type 5
Distal arthrogryposis with ophthalmoplegia
An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.
Id715217004
StatusPrimitive
Has interpretationverlaagd
Interprets‘range of motion’ van gewricht
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ68.8
RuleTRUE
AdviceALWAYS Q68.8
CorrelationSNOMED CT source code to target map code correlation not specified