autosomaal dominante hereditaire aandoening	dwerggroei	goniodysgenese	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	verstandelijke beperking
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syndroom van goniodysgenesie met verstandelijke beperking en kleine gestalte (aandoening)
	syndroom van goniodysgenesie met verstandelijke beperking en kleine gestalte
	syndroom van goniodysgenesie met verstandelijke handicap en kleine gestalte syndroom van goniodysgenese met mentale retardatie en kleine gestalte GMS-syndroom
	GMS syndrome
	Goniodysgenesis with intellectual disability and short stature syndrome Goniodysgenesis with mental deficiency and short stature
	An extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.

Id	716024001
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van angulus iridocornealis
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Interprets

meetbare observatie betreffende lengte en/of groei

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to Orphanet simple map

2090

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8
Correlation	SNOMED CT source code to target map code correlation not specified