716165003: Microcornea with corectopia and macular hypoplasia 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\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Finding of head region\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Microcornea with corectopia and macular hypoplasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcornea with corectopia and macular hypoplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Microcornea with corectopia and macular hypoplasia 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 cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Microcornea with corectopia and macular hypoplasia syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304941013 Microcornea with corectopia and macular hypoplasia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3304942018 Microcornea with corectopia and macular hypoplasia syndrome en Synonym Active Case insensitive SNOMED CT core
3304943011 This syndrome has features of microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family. en Definition Inactive Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcornea with corectopia and macular hypoplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Microcornea with corectopia and macular hypoplasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microcornea with corectopia and macular hypoplasia syndrome	Is a	Microcornea	true	Inferred relationship	Some
Microcornea with corectopia and macular hypoplasia syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Microcornea with corectopia and macular hypoplasia syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Microcornea with corectopia and macular hypoplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Microcornea with corectopia and macular hypoplasia syndrome	Finding site	Corneal structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

REPLACED BY association reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304941013	Microcornea with corectopia and macular hypoplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3304942018	Microcornea with corectopia and macular hypoplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3304943011	This syndrome has features of microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family.	en	Definition	Inactive	Case sensitive	SNOMED CT core