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syndroom van proximale 4q25-deletie (aandoening)
syndroom van proximale 4q25-deletie
proximale monosomie 4q25
proximale 4q25-deletiesyndroom
4q25 proximal deletion syndrome
Proximal monosomy 4q25
A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth and mild hand deformities such as bilateral short fifth metacarpals and short hands.
Id1251452003
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 4
Occurrencecongenitaal
Associated morphologymorfologische afwijking
Finding sitestructuur van hand
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydeletie van lange arm
Finding sitechromosomenpaar 4
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