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cheilopalatoschisis-doofheid-sacraal lipoom-syndroom (aandoening)
cheilopalatoschisis-doofheid-sacraal lipoom-syndroom
syndroom met gespleten lip en/of verhemelte, doofheid en sacraal lipoom
Lowry-Yong-syndroom
syndroom van Lowry-Yong
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
Has interpretationgestoord
Interpretsgehoorfunctie
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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map2003
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified