autosomaal dominante hereditaire aandoening	congenitaal glaucoom	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	kleine gestalte	malformatiesyndroom met betrokkenheid van meerdere systemen	microsferofakie
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syndroom van glaucoom, ectopia lentis, microsferofakie, stijve gewrichten en kleine gestalte (aandoening)
	syndroom van glaucoom, ectopia lentis, microsferofakie, stijve gewrichten en kleine gestalte
	GEMSS-syndroom
	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.

Id	722450007
Status	Primitive

Associated morphology	afwijkend klein
Finding site	structuur van lens cristallina
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	congenitale afwijkende ronding
Finding site	structuur van lens cristallina
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	onder referentiebereik
Interprets	Body height

SNOMED CT to Orphanet simple map

DHD Diagnosis thesaurus reference set

SNOMED CT to ICD-10 extended map

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