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Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder)
GEMSS syndrome
GEMSS (glaucoma, ectopia, microspherophakia, stiff joint, short stature) syndrome
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.
Id722450007
StatusPrimitive
Associated morphologyAbnormal smallness
Finding siteLens clear
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital abnormal roundness
Finding siteLens clear
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsBody height
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified