autosomaal recessieve hereditaire aandoening	congenitaal glaucoom	congenitale afwijking van retina	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	nanoftalmie	retinadegeneratie
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syndroom van retinadegeneratie, nanophthalmos en glaucoom (aandoening)
	syndroom van retinadegeneratie, nanophthalmos en glaucoom
	syndroom van retinadegeneratie, nanoftalmie en glaucoom
	Retinal degeneration, nanophthalmos, glaucoma syndrome
	Mackay Shek Carr syndrome
	Syndrome with characteristics of progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.

Id	723503006
Status	Primitive

Associated morphology	congenitale kleinheid
Finding site	gehele bulbus oculi
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	pigmentdegeneratie
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	H35.5
Term	Hereditaire retinadystrofie

Target	Q11.2
Term	Microftalmie

Target	Q15.0
Term	Congenitaal glaucoom

SNOMED CT to Orphanet simple map

1574

SNOMED CT to ICD-10 extended map

Target	H35.5
Rule	TRUE
Advice	ALWAYS H35.5 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q11.2
Rule	TRUE
Advice	ALWAYS Q11.2
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q15.0
Rule	TRUE
Advice	ALWAYS Q15.0
Correlation	SNOMED CT source code to target map code correlation not specified