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Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
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.
syndroom van retinadegeneratie, nanophthalmos en glaucoom
syndroom van retinadegeneratie, nanoftalmie en glaucoom
Id723503006
StatusPrimitive
Associated morphologyCongenital smallness
Finding siteEntire eye
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyPigmentary degeneration
Finding siteRetinal structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ11.2
RuleTRUE
AdviceALWAYS Q11.2
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ15.0
RuleTRUE
AdviceALWAYS Q15.0
CorrelationSNOMED CT source code to target map code correlation not specified