8q24.3-microdeletiesyndroom (aandoening)
8q24.3 microdeletion syndrome
Monosomy 8q24.3
Verheij syndrome
Deletion 8q24.3
A multiple congenital anomalies/dysmorphic intellectual disability syndrome with characteristics of feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short broad neck). Additional variable manifestations include obstructive apnea, recurrent pneumonia and seizures.
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 8
Associated morphologydeletie van lange arm
Finding sitechromosomenpaar 8
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationgestoord
Interpretsintellectueel vermogen
SNOMED CT to Orphanet simple map508488
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified