Autosomal recessive hereditary disorder	Congenital anomaly of retina	Congenital glaucoma	Degeneration of retina	Developmental hereditary disorder	Hereditary disorder of the visual system	Nanophthalmia
\|	\|	\|	\|	\|	\|	\|

Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
	Retinal degeneration, nanophthalmos, glaucoma syndrome
	Mackay Shek Carr syndrome
	Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by 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	Abnormal smallness
Finding site	Entire eye proper
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Pigmentary degeneration
Finding site	Retinal structure
Occurrence	Congenital
Pathological process	Pathological developmental process

SNOMED CT to Orphanet simple map

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 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