distale monosomie 12p (aandoening)
distale monosomie 12p
distale monosomie van korte arm van chromosoom 12
Distal monosomy 12p
Distal deletion 12p
12p13.33 microdeletion syndrome
A rare partial autosomal monosomy with characteristics of language development delay with childhood apraxia of speech, mild intellectual disability, autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernia and microcephaly.
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 12
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige deleties van deel van chromosoom
SNOMED CT to Orphanet simple map280325
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified