autosomaal dominante hereditaire aandoening	congenitale ectopia lentis	congenitale ptosis van ooglid	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	myopia gravior
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syndroom van blefaroptose, myopie en ectopia lentis (aandoening)
	syndroom van blefaroptose, myopie en ectopia lentis
	Blepharoptosis, myopia, ectopia lentis syndrome
	This syndrome has characteristics of bilateral congenital blepharoptosis, ectopia lentis and high myopia. It has been described in three members of one family (in a mother and her two daughters). Transmission appears to be autosomal dominant.

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