Autosomal dominant hereditary disorder	Congenital glaucoma	Developmental hereditary disorder	Hereditary disorder of the visual system	Microspherophakia	Multiple system malformation syndrome	Short stature disorder
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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
	Syndrome with characteristics of progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome.
	syndroom van glaucoom, ectopia lentis, microsferofakie, stijve gewrichten en kleine gestalte
	GEMSS-syndroom

Id	722450007
Status	Primitive

Associated morphology	Congenital smallness
Finding site	Lens clear
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Congenital abnormal roundness
Finding site	Lens clear
Occurrence	Congenital
Pathological process	Pathological developmental process

Interprets

Height / growth measure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.1
Rule	TRUE
Advice	ALWAYS Q87.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified