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syndroom van mozaïekvorm van trisomie 9 (aandoening)
syndroom van mozaïekvorm van trisomie 9
mozaïektrisomie van chromosoom 9
mozaïcisme van trisomie 9
mozaïektrisomie 9
Mosaic trisomy 9 syndrome
Mosaic trisomy chromosome 9
Trisomy 9 mosaicism
Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (including microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.
Id764989007
StatusDefined
Associated morphologytrisomie
Finding sitechromosomenpaar 9
Occurrencecongenitaal
Associated morphologychromosomaal mozaïcisme
Finding sitechromosomenpaar 9
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ92.1
TermTrisomie van geheel chromosoom, mosaïcisme (mitotische non-disjunctie)
SNOMED CT to Orphanet simple map99776
SNOMED CT to ICD-10 extended map
TargetQ92.1
RuleTRUE
AdviceALWAYS Q92.1
CorrelationSNOMED CT source code to target map code correlation not specified