722439009: Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning 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\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3332079015 Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3332080017 Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3332081018 EDICT syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3332082013 EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3332083015 Autosomal dominant keratoconus with early-onset anterior polar cataract en Synonym Active Entire term case insensitive SNOMED CT core module
3332084014 Familial keratoconus with cataract en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome	Is a	Irido-corneal dysgenesis	false	Inferred relationship	Existential restriction modifier
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome	Finding site	Anterior eyeball segment structure	true	Inferred relationship	Existential restriction modifier	1
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome	Is a	Congenital anomaly of anterior segment of eye	true	Inferred relationship	Existential restriction modifier
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3332079015	Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3332080017	Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3332081018	EDICT syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3332082013	EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3332083015	Autosomal dominant keratoconus with early-onset anterior polar cataract	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3332084014	Familial keratoconus with cataract	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module