autosomaal recessieve hereditaire aandoening	congenitale chorioretinale degeneratie	congenitale ectopia lentis	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	retinadystrofie
\|	\|	\|	\|	\|	\|

syndroom van ectopia lentis, choroidoretinale dystrofie en myopie (aandoening)
	syndroom van ectopia lentis, choroidoretinale dystrofie en myopie
	syndroom van ectopia lentis, chorioretinale dystrofie en myopie
	Ectopia lentis, chorioretinal dystrophy, myopia syndrome
	A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability have been reported in some patients.

Id	722437006
Status	Primitive

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

Associated morphology	dystrofie
Finding site	structuur van choroidea
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dystrofie
Finding site	structuur van retina
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

1884

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