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3q26q27 microdeletion syndrome (disorder)
3q26q27 microdeletion syndrome
Monosomy 3q26-q27
Monosomy 3q26q27
A rare partial autosomal monosomy syndrome with characteristics of neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported.
3q26q27-microdeletiesyndroom
Id778000002
StatusPrimitive
Associated morphologyPartial monosomy
Finding siteLong arm of chromosome
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyPartial monosomy
Finding siteChromosome pair 3
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified