771471002: Optic nerve edema, splenomegaly syndrome (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\...

\Abdominal organomegaly\Splenomegaly\Optic nerve edema, splenomegaly syndrome (disorder)

\Disorder of spleen\Splenomegaly\Optic nerve edema, splenomegaly syndrome (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Abdominal organomegaly\Splenomegaly\Optic nerve edema, splenomegaly syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of spleen\Splenomegaly\Optic nerve edema, splenomegaly syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Abdominal organomegaly\Splenomegaly\Optic nerve edema, splenomegaly syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of spleen\Splenomegaly\Optic nerve edema, splenomegaly syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Abdominal organomegaly\Splenomegaly\Optic nerve edema, splenomegaly syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of spleen\Splenomegaly\Optic nerve edema, splenomegaly syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Abdominal organomegaly\Splenomegaly\Optic nerve edema, splenomegaly syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of spleen\Splenomegaly\Optic nerve edema, splenomegaly syndrome (disorder)

\Oedema\Disorder characterized by edema\Optic nerve edema, splenomegaly syndrome (disorder)

\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Optic nerve edema, splenomegaly syndrome (disorder)

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Optic nerve edema, splenomegaly syndrome (disorder)

\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Optic nerve edema, splenomegaly syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Optic nerve edema, splenomegaly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Optic nerve edema, splenomegaly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Optic nerve edema, splenomegaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Disorder of lymphoid system (disorder)\Disorder of spleen\Splenomegaly\Optic nerve edema, splenomegaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Disorder of lymphoid system (disorder)\Disorder of spleen\Splenomegaly\Optic nerve edema, splenomegaly syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Optic nerve edema, splenomegaly syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Optic nerve edema, splenomegaly syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Optic nerve edema, splenomegaly syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Optic nerve edema, splenomegaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Optic nerve edema, splenomegaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Optic nerve edema, splenomegaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Optic nerve edema, splenomegaly syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Abdominal organomegaly\Splenomegaly\Optic nerve edema, splenomegaly syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of spleen\Splenomegaly\Optic nerve edema, splenomegaly syndrome (disorder)
\Disease\Disorder characterized by edema\Optic nerve edema, splenomegaly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3706353012 Optic nerve edema, splenomegaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3706354018 Optic nerve oedema, splenomegaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3706355017 Optic nerve edema, splenomegaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3706356016 A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3706357013 A rare presumably genetic disorder characterised by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve oedema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

11442781000172118 syndrome d'œdème du nerf optique-splénomégalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

949611000172110 optische zenuw oedeem-splenomegaliesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Optic nerve edema, splenomegaly syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	false	Inferred relationship	Some
Optic nerve edema, splenomegaly syndrome (disorder)	Is a	Splenomegaly	true	Inferred relationship	Some
Optic nerve edema, splenomegaly syndrome (disorder)	Finding site	Optic nerve structure	true	Inferred relationship	Some	1
Optic nerve edema, splenomegaly syndrome (disorder)	Associated morphology	Edema	true	Inferred relationship	Some	1
Optic nerve edema, splenomegaly syndrome (disorder)	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	2
Optic nerve edema, splenomegaly syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Optic nerve edema, splenomegaly syndrome (disorder)	Is a	Inherited optic neuropathy	true	Inferred relationship	Some
Optic nerve edema, splenomegaly syndrome (disorder)	Occurrence	Childhood	true	Inferred relationship	Some	1
Optic nerve edema, splenomegaly syndrome (disorder)	Finding site	Entire spleen	true	Inferred relationship	Some	2
Optic nerve edema, splenomegaly syndrome (disorder)	Is a	Disorder characterized by edema	true	Inferred relationship	Some
Optic nerve edema, splenomegaly syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some

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
3706353012	Optic nerve edema, splenomegaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706354018	Optic nerve oedema, splenomegaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706355017	Optic nerve edema, splenomegaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706356016	A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706357013	A rare presumably genetic disorder characterised by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve oedema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
11442781000172118	syndrome d'œdème du nerf optique-splénomégalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
949611000172110	optische zenuw oedeem-splenomegaliesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)