2q partial trisomy syndrome
Congenital nystagmus
Genetic disease
Multiple malformation syndrome with limb defect as major feature
Pendular nystagmus
Syndactyly
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Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder)
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
Syndactyly, nystagmus syndrome due to trisomy 2q31.1
A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.
Id783562005
StatusPrimitive
Associated morphologyAbnormally fused structure
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyPartial trisomy
Finding siteChromosome pair 2
OccurrenceCongenital
Finding siteEye region structure
OccurrenceCongenital
InterpretsOcular motility observable
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ92.3
TermTrisomie van kleinste deel chromosoom
SNOMED CT to ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified