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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\GMS syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\GMS syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\GMS syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\GMS syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\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\GMS syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\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\GMS syndrome
\Finding of head region\Globe finding\Anterior segment finding\Anterior chamber finding\Disorder of anterior chamber of eye\Disorder of iridocorneal angle\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\GMS syndrome
\Finding of head region\Globe finding\Anterior segment 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\GMS syndrome
\Finding of head region\Globe finding\Anterior segment finding\Anterior chamber finding\Finding of angle of anterior chamber\Disorder of iridocorneal angle\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\GMS syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\GMS syndrome
\Finding of head region\Globe finding\Anterior segment 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\GMS syndrome
\Finding of head region\Globe finding\Anterior segment 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\GMS syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\GMS syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of anterior chamber of eye\Congenital malformation of angle of anterior chamber of eye\Goniodysgenesis\GMS syndrome
\Finding of head region\Globe finding\Disorder of eye\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\GMS syndrome
\Finding of head region\Globe finding\Disorder of eye\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\GMS syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\GMS syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\GMS syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\GMS syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\GMS syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3304471014 Goniodysgenesis with intellectual disability and short stature syndrome en Synonym Active Case insensitive SNOMED CT core

3304472019 GMS syndrome en Synonym Active Case sensitive SNOMED CT core

3304473012 Goniodysgenesis with mental deficiency and short stature en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
GMS syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
GMS syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	2
GMS syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
GMS syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	2
GMS syndrome	Finding site	Anterior chamber of eye structure	false	Inferred relationship	Some	1
GMS syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
GMS syndrome	Finding site	Structure of iridocorneal angle	true	Inferred relationship	Some	1
GMS syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
GMS syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	2
GMS syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
GMS syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
GMS syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
GMS syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
GMS syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
GMS syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
GMS syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
GMS syndrome	Is a	Goniodysgenesis	true	Inferred relationship	Some
GMS syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
GMS syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
GMS syndrome	Finding site	Structure of iridocorneal angle	false	Inferred relationship	Some	2
GMS syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
GMS syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
GMS syndrome	Finding site	Anterior chamber of eye structure	false	Inferred relationship	Some	3
GMS syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

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