718579008: X-gebonden endotheliale corneadystrofie (aandoening)

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

\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Corneal finding\Corneal endothelium finding\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Corneal finding\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Corneal finding\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)

\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Corneal finding\Corneal endothelium finding\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Corneal finding\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Corneal finding\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked endothelial dystrophy of cornea (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\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\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\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\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\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 cornea\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\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 cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Dystrophy of posterior cornea (disorder)\Corneal endothelial dystrophy (disorder)\X-linked endothelial dystrophy of cornea (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\X-linked endothelial dystrophy of cornea (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3312828017 X-linked endothelial dystrophy of cornea (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3312829013 X-linked endothelial dystrophy of cornea en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3312830015 X-linked endothelial corneal dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6169481000146118 X-gebonden endotheliale corneadystrofie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6169491000146116 X-gebonden endotheliale corneadystrofie (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6169501000146114 X-gebonden endotheeldystrofie van hoornvlies nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6169511000146111 X-gebonden cornea-endotheeldystrofie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3312831016 A rare subtype of posterior corneal dystrophy with characteristics of congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Prevalence of this rare corneal dystrophy is unknown. Males are affected more severely than females. The condition is progressive in males and non-progressive in females. Has been mapped to the long arm of the X-chromosome (Xq25) but the causative gene has not been identified. Transmission is X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked endothelial dystrophy of cornea (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
X-linked endothelial dystrophy of cornea (disorder)	Is a	Hereditary corneal dystrophy	true	Inferred relationship	Some
X-linked endothelial dystrophy of cornea (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked endothelial dystrophy of cornea (disorder)	Is a	Corneal endothelial dystrophy (disorder)	true	Inferred relationship	Some
X-linked endothelial dystrophy of cornea (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
X-linked endothelial dystrophy of cornea (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked endothelial dystrophy of cornea (disorder)	Finding site	Structure of corneal endothelium	true	Inferred relationship	Some	1
X-linked endothelial dystrophy of cornea (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets