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75241009: Choroideremia (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\Degenerative disorder of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideremia
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideremia
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideremia
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideremia
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideremia
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideremia
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia
\Finding of head region\Globe finding\Choroid finding\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideremia
\Finding of head region\Globe finding\Choroid finding\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia

\Disorder of head\Disorder of eye region\Disorder of eye proper\...

\Anomaly of eye\Degenerative disorder of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideremia

\Disorder of posterior segment of eye\Disorder of choroid of eye\...

\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideremia

\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia

\Disorder of uveal tract\Disorder of choroid of eye\...

\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideremia

\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia

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

Descriptions:

Id Description Lang Type Status Case? Module

124966010 Choroideremia en Synonym Active Entire term case insensitive SNOMED CT core module
502961016 Choroideraemia en Synonym Active Entire term case insensitive SNOMED CT core module
815829015 Choroideremia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3499687018 Tapetochoroidal dystrophy en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Choroideremia	Is a	Hereditary choroidal dystrophy	true	Inferred relationship	Existential restriction modifier
Choroideremia	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	1
Choroideremia	Finding site	Choroidal structure	false	Inferred relationship	Existential restriction modifier	1
Choroideremia	Associated morphology	Atrophy	false	Inferred relationship	Existential restriction modifier	1
Choroideremia	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	2
Choroideremia	Finding site	Choroidal structure	true	Inferred relationship	Existential restriction modifier	1
Choroideremia	Finding site	Choroidal structure	false	Inferred relationship	Existential restriction modifier	2
Choroideremia	Is a	Choroidal atrophy	false	Inferred relationship	Existential restriction modifier
Choroideremia	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Choroideremia	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	1
Choroideremia	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Total central choroidal atrophy	Is a	False	Choroideremia	Inferred relationship	Existential restriction modifier
Total central choroidal atrophy	Is a	False	Choroideremia	Inferred relationship	Existential restriction modifier
Choroideremia co-occurrent with hypopituitarism	Is a	False	Choroideremia	Inferred relationship	Existential restriction modifier
Choroideremia with deafness and obesity syndrome	Is a	True	Choroideremia	Inferred relationship	Existential restriction modifier
Van den Bosch syndrome	Is a	True	Choroideremia	Inferred relationship	Existential restriction modifier
Choroideremia of bilateral eyes	Is a	True	Choroideremia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
124966010	Choroideremia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
502961016	Choroideraemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
815829015	Choroideremia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3499687018	Tapetochoroidal dystrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module