716024001: Goniodysgenesis with intellectual disability and short stature syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Disorder of iridocorneal angle\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Anterior chamber finding\Disorder of anterior chamber of eye\Disorder of iridocorneal angle\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Anterior chamber finding\Disorder of anterior chamber of eye\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Anterior chamber finding\Finding of angle of anterior chamber\Disorder of iridocorneal angle\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Disorder of iridocorneal angle\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Disorder of iridocorneal angle\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Disorder of iridocorneal angle\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Anterior chamber finding\Disorder of anterior chamber of eye\Disorder of iridocorneal angle\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Anterior chamber finding\Disorder of anterior chamber of eye\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Anterior chamber finding\Finding of angle of anterior chamber\Disorder of iridocorneal angle\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Disorder of iridocorneal angle\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Disorder of iridocorneal angle\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Disorder of iridocorneal angle\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Disorder of iridocorneal angle\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Disorder of iridocorneal angle\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior chamber of eye\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Goniodysgenesis with intellectual disability and short stature syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3304470010	Goniodysgenesis with intellectual disability and short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304471014	Goniodysgenesis with intellectual disability and short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304472019	GMS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304473012	Goniodysgenesis with mental deficiency and short stature	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304474018	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

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