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syndroom van distale 18q-deletie (aandoening)
syndroom van distale 18q-deletie
distale 18qDS
Distal chromosome 18q deletion syndrome
Distal monosomy 18q
Distal 18q deletion syndrome
A deletion of the long (q) arm of chromosome 18 near one end of the chromosome. Manifestations of this disorder are varied and can commonly include short stature, hypotonia, hearing loss, clubfoot or rocker-bottom feet, eye movement disorders and other vision problems, cleft palate, hypothyroidism, congenital heart defects, kidney problems, genital and skin abnormalities. Most cases are the result of a de novo deletion and are not inherited.
Id765171002
StatusPrimitive
Associated morphologydeletie van lange arm
Finding sitechromosomenpaar 18
Occurrencecongenitaal
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 18
Occurrencecongenitaal
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified