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cheilopalatoschisis-doofheid-sacraal lipoom-syndroom (aandoening)
cheilopalatoschisis-doofheid-sacraal lipoom-syndroom
Lowry-Yong-syndroom
syndroom van Lowry-Yong
syndroom met gespleten lip en/of verhemelte, doofheid en sacraal lipoom
Lowry Yong syndrome
Cleft palate and cleft lip with deafness and sacral lipoma syndrome
This syndrome is characterized by cleft lip and palate, profound sensorineural deafness and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings include appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.
Id716007007
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van palatum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitestructuur van labium oris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified