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Cleft palate and cleft lip with deafness and sacral lipoma syndrome (disorder)
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.
cheilopalatoschisis-doofheid-sacraal lipoom-syndroom
Lowry-Yong-syndroom
syndroom van Lowry-Yong
syndroom met gespleten lip en/of verhemelte, doofheid en sacraal lipoom
Id716007007
StatusPrimitive
Has interpretationImpaired
InterpretsHearing
Associated morphologyDevelopmental failure of fusion
Finding sitePalatal structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDevelopmental failure of fusion
Finding siteLip structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyLipoma
Finding siteSacral region back structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified