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2q24 microdeletion syndrome (disorder)
2q24 microdeletion syndrome
Monosomy 2q24
A chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 with clinical characteristics of a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.
2q24-microdeletiesyndroom
Id719658006
StatusPrimitive
Associated morphologyPartial monosomy
Finding siteLong arm of chromosome
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyPartial monosomy
Finding siteChromosome pair 2
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