deletie van gedeelte van lange arm van chromosoom 17
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distale monosomie 17q (aandoening)
distale monosomie 17q
distale monosomie van lange arm van chromosoom 17
Distal monosomy 17q
Distal 17q deletion
Telomeric deletion 17q
A very rare chromosomal disorder of unknown prevalence with characteristics of multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).
Id732259001
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 17
Occurrencecongenitaal
Associated morphologypartiële monosomie
Finding sitestructuur van lange arm van chromosoom
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 map1597
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified