702398007: Hyperferritinemia cataract syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Hyperferritinemia cataract syndrome
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Hyperferritinemia cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Hyperferritinemia cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Hyperferritinemia cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Hyperferritinemia cataract syndrome
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Hyperferritinemia cataract syndrome
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Hyperferritinemia cataract syndrome
\Finding of head region\Globe finding\Lesion of eye structure\Cataract finding\Cataract\Hyperferritinemia cataract syndrome

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\...

\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Hyperferritinemia cataract syndrome

\Disorder of anterior segment of eye\Disorder of lens\Cataract\Hyperferritinemia cataract syndrome

\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Hyperferritinemia cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Hyperferritinemia cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Hyperferritinemia cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Hyperferritinemia cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Hyperferritinemia cataract syndrome
\Eye / vision finding\Globe finding\Lesion of eye structure\Cataract finding\Cataract\Hyperferritinemia cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Hyperferritinemia cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Hyperferritinemia cataract syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hyperferritinemia cataract syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hyperferritinemia cataract syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hyperferritinemia cataract syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Hyperferritinemia cataract syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hyperferritinemia cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Hyperferritinemia cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Hyperferritinemia cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hyperferritinemia cataract syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Hyperferritinemia cataract syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Hyperferritinemia cataract syndrome

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperferritinemia cataract syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hyperferritinemia cataract syndrome	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Hyperferritinemia cataract syndrome	Is a	Cataract	true	Inferred relationship	Some
Hyperferritinemia cataract syndrome	Associated with	Serum ferritin high (finding)	true	Inferred relationship	Some	2
Hyperferritinemia cataract syndrome	Associated morphology	Cataract (morphologic abnormality)	false	Inferred relationship	Some	2
Hyperferritinemia cataract syndrome	Finding site	Lens clear	false	Inferred relationship	Some	2
Hyperferritinemia cataract syndrome	Finding site	Lens clear	true	Inferred relationship	Some	1
Hyperferritinemia cataract syndrome	Associated morphology	Opacity	true	Inferred relationship	Some	1

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
2994983013	Hereditary hyperferritinemia-cataract syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995014019	Hyperferritinemia cataract syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995493017	Hyperferritinemia cataract syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995902012	Bonneau-Beaumont syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3688751000052119	hyperferritinemi-kataraktsyndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)