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syndroom van Xq25-microduplicatie (aandoening)
syndroom van Xq25-microduplicatie
dup(X)(q25)
microduplicatie van chromosoom Xq25
Xq25-microduplicatiesyndroom
Xq25 microduplication syndrome
Xq25 microtriplication
A rare X-linked multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome with characteristics of developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces.
Id1229872004
StatusPrimitive
Associated morphologypartiƫle trisomie
Finding sitestructuur van X-chromosoom
Occurrencecongenitaal
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationgestoord
Interpretsintellectueel vermogen
SNOMED CT to Orphanet simple map521258
SNOMED CT to ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified