congenitale nystagmus	genetische aandoening	pendelnystagmus	polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk	syndactylie	syndroom van partiële trisomie 2q
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syndroom van syndactylie en nystagmus door 2q31.1-microduplicatie (aandoening)
	syndroom van syndactylie en nystagmus door 2q31.1-microduplicatie
	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 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.

Id	783562005
Status	Primitive

Associated morphology	Abnormally fused structure
Finding site	structuur van digitus van hand of voet
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	partiële trisomie
Finding site	chromosomenpaar 2
Occurrence	congenitaal

Finding site	structuur van regio van oog
Occurrence	congenitaal

Interprets

observatie betreffende oogbeweging

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q92.3
Term	Trisomie van kleinste deel chromosoom

SNOMED CT to Orphanet simple map

294026

SNOMED CT to ICD-10 extended map

Target	Q92.3
Rule	TRUE
Advice	ALWAYS Q92.3
Correlation	SNOMED CT source code to target map code correlation not specified