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2p21-microdeletiesyndroom zonder cystinurie (aandoening)
2p21-microdeletiesyndroom zonder cystinurie
monosomie 2p21 zonder cystinurie
2p21-deletiesyndroom zonder cystinurie
2p21 microdeletion syndrome without cystinuria
A rare partial autosomal monosomy with characteristics of weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.
Id770754006
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 2
Occurrencecongenitaal
Associated morphologydeletie van korte arm van chromosoom
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