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49,XXXYY-syndroom (aandoening)
49,XXXYY-syndroom
49,XXXYY syndrome
A rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (including solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development may also be associated.
Id770908007
StatusPrimitive
Associated morphologyaneuploïdie
Finding sitestructuur van X-chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ98.8
TermOverige gespecificeerde geslachtschromosoomafwijkingen, mannelijk fenotype
SNOMED CT to Orphanet simple map261534
SNOMED CT to ICD-10 extended map
TargetQ98.8
RuleTRUE
AdviceALWAYS Q98.8
CorrelationSNOMED CT source code to target map code correlation not specified