autosomaal dominante hereditaire aandoening	congenitale ectopia lentis	congenitale ptosis van ooglid	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	hoge myopie
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syndroom van blefaroptose, myopie en ectopia lentis (aandoening)
	syndroom van blefaroptose, myopie en ectopia lentis
	Blepharoptosis, myopia, ectopia lentis syndrome
	A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982.

Id	717915004
Status	Primitive

Associated morphology	congenitale ectopie
Finding site	structuur van lens cristallina
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	neerwaartse verplaatsing
Finding site	structuur van palpebra superior
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q15.8
Term	Overige gespecificeerde congenitale misvormingen van oog

SNOMED CT to Orphanet simple map

1259

SNOMED CT to ICD-10 extended map

Target	Q15.8
Rule	TRUE
Advice	ALWAYS Q15.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified