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Xq12-q13.3 duplication syndrome (disorder)
Xq12-q13.3 duplication syndrome
A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.
Xq12-q13.3-duplicatiesyndroom
Id764711007
StatusPrimitive
Associated morphologyPartial trisomy
Finding siteLong arm of chromosome
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyPartial trisomy
Finding siteSex chromosome X
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