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14q22q23-microdeletiesyndroom (aandoening)
14q22q23-microdeletiesyndroom
14q22-q23-microdeletiesyndroom
monosomie 14q22q23
monosomie 14q22-q23
14q22q23 microdeletion syndrome
Monosomy 14q22-q23
14q22-q23 microdeletion syndrome
Monosomy 14q22q23
A rare partial deletion of the long arm of chromosome 14 with characteristics of ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations and hearing impairment. Smaller 14q22 deletions may have variable expression.
Id771439009
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 14
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified