722450007: Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Glaucoma, ectopia, microspherophakia, stiff joint, short stature 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 lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\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 lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature 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 lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature 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 lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Glaucoma\Congenital glaucoma\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature 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 lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature 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 lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature 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 lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature 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 lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature 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 lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature 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 lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Finding of head region\Globe finding\Disorder of eye\Glaucoma\Congenital glaucoma\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Glaucoma\Congenital glaucoma\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Glaucoma\Congenital glaucoma\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Glaucoma\Congenital glaucoma\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Glaucoma\Congenital glaucoma\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Glaucoma\Congenital glaucoma\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Congenital disease\Congenital glaucoma\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
\Disease\Developmental disorder\Congenital glaucoma\Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3332186014 Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3332187017 Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome en Synonym Active Case insensitive SNOMED CT core

3332188010 GEMSS syndrome en Synonym Active Case sensitive SNOMED CT core

3332189019 GEMSS (glaucoma, ectopia, microspherophakia, stiff joint, short stature) syndrome en Synonym Active Case sensitive SNOMED CT core

3332190011 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. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Is a	Congenital glaucoma	true	Inferred relationship	Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Is a	Microspherophakia	true	Inferred relationship	Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Associated morphology	Congenital abnormal shape	false	Inferred relationship	Some	4
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	4
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	5
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	6
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Associated morphology	Congenital abnormal roundness	false	Inferred relationship	Some	5
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	6
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	2
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	Associated morphology	Congenital abnormal roundness	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3332186014	Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3332187017	Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3332188010	GEMSS syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3332189019	GEMSS (glaucoma, ectopia, microspherophakia, stiff joint, short stature) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3332190011	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.	en	Definition	Active	Case sensitive	SNOMED CT core