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Distal Xq28 microduplication syndrome (disorder)
Distal Xq28 microduplication syndrome
Distal trisomy Xq28
A rare hereditary syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism.
distaal Xq28-microduplicatiesyndroom
distale trisomie Xq28
Id773670004
StatusPrimitive
Associated morphologyPartial trisomy
Finding siteSex chromosome X
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyPartial trisomy
Finding siteLong arm of chromosome
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified