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syndroom van mozaïekvorm van trisomie 8 (aandoening)
syndroom van mozaïekvorm van trisomie 8
mozaïektrisomie 8
mozaïektrisomie van chromosoom 8
mozaïcisme van trisomie 8
Mosaic trisomy 8 syndrome
Mosaic trisomy chromosome 8
Warkany syndrome
Trisomy 8 mosaicism
Mosaic trisomy 8
A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.
Id717335009
StatusDefined
Associated morphologychromosomaal mozaïcisme
Finding sitechromosomenpaar 8
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologytrisomie
Finding sitechromosomenpaar 8
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96061
SNOMED CT to ICD-10 extended map
TargetQ92.1
RuleTRUE
AdviceALWAYS Q92.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified