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2p21-microdeletiesyndroom (aandoening)
2p21-microdeletiesyndroom
monosomie 2p21
2p21-deletiesyndroom
2p21 microdeletion syndrome
Monosomy 2p21
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. It has been described in seven patients from three families of a small Bedouin clan. Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears. Renal lithiasis occurs at an early age in all patients. Reduced activity of the respiratory chain complexes I, III, IV and V was found in patients examined. The syndrome is caused by homozygous deletion of at least four contiguous genes on chromosome 2: SLC3A1, PREPL, PPM1B and C2orf34 (2p21).
Id719652007
StatusPrimitive
Associated morphologydeletie van korte arm van chromosoom
Finding sitechromosomenpaar 2
Occurrencecongenitaal
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 2
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified