|
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
A rare chromosomal anomaly syndrome with characteristics of 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
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ93.5
TermOverige deleties van deel van chromosoom
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