||||
12q14-microdeletiesyndroom (aandoening)
12q14-microdeletiesyndroom
syndroom van osteopathia condensans disseminata met kleine lengte en verstandelijke beperking
deletie 12q14
syndroom van osteopoikilose met kleine gestalte en intellectuele achterstand
monosomie 12q14
12q14 microdeletion syndrome
Monosomy 12q14
Osteopoikilosis with short stature and intellectual disability syndrome
This syndrome has characteristics of mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.
Id719046005
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 12
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydeletie van lange arm
Finding sitechromosomenpaar 12
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationboven referentiebereik
Interpretsbotdensitometrie
referentieset met complexe 'mapping' naar ICD-10
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified