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syndroom van distale 17p13.1-microdeletie (aandoening)
syndroom van distale 17p13.1-microdeletie
syndroom van distale microdeletie van chromosoom 17 (17p13.1)
Distal 17p13.1 microdeletion syndrome
Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
Id770629000
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 17
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map319171
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified