702398007: Hyperferritinemia cataract syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\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\cataracte\Hyperferritinemia cataract syndrome
\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\cataracte\Hyperferritinemia cataract syndrome
\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\cataracte\Hyperferritinemia cataract syndrome
\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Hyperferritinemia cataract syndrome
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Hyperferritinemia cataract syndrome
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Hyperferritinemia cataract syndrome
\Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Cataract finding\cataracte\Hyperferritinemia cataract syndrome

\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\...

\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Hyperferritinemia cataract syndrome

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

\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\cataracte\Hyperferritinemia cataract syndrome
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\cataracte\Hyperferritinemia cataract syndrome
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Hyperferritinemia cataract syndrome
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Hyperferritinemia cataract syndrome
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Hyperferritinemia cataract syndrome
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\Cataract finding\cataracte\Hyperferritinemia cataract syndrome
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Hyperferritinemia cataract syndrome
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Hyperferritinemia cataract syndrome
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Hyperferritinemia cataract syndrome

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Hyperferritinemia cataract syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hyperferritinemia cataract syndrome
\Disease\affection dégénérative\affection dégénérative de l'œil\cataracte\Hyperferritinemia cataract syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Hyperferritinemia cataract syndrome
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Hyperferritinemia cataract syndrome
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Hyperferritinemia cataract syndrome
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Hyperferritinemia cataract syndrome
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Hyperferritinemia cataract syndrome
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Hyperferritinemia cataract syndrome

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

Descriptions:

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperferritinemia cataract syndrome	localisation d'une constatation (attribut)	cristallin	true	Inferred relationship	Some	1
Hyperferritinemia cataract syndrome	morphologie associée (attribut)	opacité	true	Inferred relationship	Some	1
Hyperferritinemia cataract syndrome	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hyperferritinemia cataract syndrome	est un(e) (attribut)	Hereditary disorder of the visual system	true	Inferred relationship	Some
Hyperferritinemia cataract syndrome	est un(e) (attribut)	cataracte	true	Inferred relationship	Some
Hyperferritinemia cataract syndrome	associé à (attribut)	Serum ferritin high (finding)	true	Inferred relationship	Some	2
Hyperferritinemia cataract syndrome	morphologie associée (attribut)	Cataract	false	Inferred relationship	Some	2
Hyperferritinemia cataract syndrome	localisation d'une constatation (attribut)	cristallin	false	Inferred relationship	Some	2

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