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syndroom van mozaïekvorm van trisomie 5 (aandoening)
syndroom van mozaïekvorm van trisomie 5
mozaïektrisomie 5
mozaïcisme van trisomie 5
mozaïektrisomie van chromosoom 5
Mosaic trisomy 5 syndrome
Trisomy 5 mosaicism
Mosaic trisomy chromosome 5
A rare chromosomal anomaly syndrome with a variable phenotype. Manifestations range from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (hypertelorism, prominent nasal bridge) and other congenital anomalies (including eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.
Id764629008
StatusDefined
Associated morphologytrisomie
Finding sitechromosomenpaar 5
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologychromosomaal mozaïcisme
Finding sitechromosomenpaar 5
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96060
SNOMED CT to ICD-10 extended map
TargetQ92.1
RuleTRUE
AdviceALWAYS Q92.1
CorrelationSNOMED CT source code to target map code correlation not specified