afwijking van geslachtschromosoom bij mannelijk fenotype
congenitale aneuploïdie van geslachtschromosoom
congenitale anomalie van Y-chromosoom
malformatiesyndroom met betrokkenheid van meerdere systemen
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48,XYYY-syndroom (aandoening)
48,XYYY-syndroom
48,XYYY syndrome
A rare Y chromosome number anomaly that affects only males. The disease has characteristics of mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.
Id733625003
StatusPrimitive
Associated morphologyaneuploïdie
Finding sitestructuur van geslachtschromosoom Y
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 map99329
SNOMED CT to ICD-10 extended map
TargetQ98.8
RuleTRUE
AdviceALWAYS Q98.8
CorrelationSNOMED CT source code to target map code correlation not specified