autosomaal dominante hereditaire aandoening	cataract	hereditaire retinadystrofie
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syndroom van microcornea, kegel-staafdystrofie, cataract en staphyloma posterius (aandoening)
	syndroom van microcornea, kegel-staafdystrofie, cataract en staphyloma posterius
	Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
	MRCS syndrome MRCS (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome
	A rare genetic retinal dystrophy disorder with characteristics of bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400. There is evidence the disease is caused by heterozygous mutation in the bestrophin-1 gene (BEST1) on chromosome 11q12.

Id	771342004
Status	Primitive

Associated morphology	dystrofie
Finding site	structuur van retina

Associated morphology	troebeling
Finding site	structuur van lens cristallina

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q13.4
Term	Overige congenitale misvormingen van cornea

Target	H35.5
Term	Hereditaire retinadystrofie

Target	H26.9
Term	Cataract, niet gespecificeerd

Target	H15.8
Term	Overige gespecificeerde aandoeningen van sclera

SNOMED CT to Orphanet simple map

263347

SNOMED CT to ICD-10 extended map

Target	Q13.4
Rule	TRUE
Advice	ALWAYS Q13.4
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H35.5
Rule	TRUE
Advice	ALWAYS H35.5
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H26.9
Rule	TRUE
Advice	ALWAYS H26.9
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H15.8
Rule	TRUE
Advice	ALWAYS H15.8
Correlation	SNOMED CT source code to target map code correlation not specified