771471002: Optic nerve edema, splenomegaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\...

\Abdominal organomegaly\Splenomegaly\Optic nerve oedema, splenomegaly syndrome

\Disorder of spleen\Splenomegaly\Optic nerve oedema, splenomegaly syndrome

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

\Oedema\Disorder characterised by oedema\Optic nerve oedema, splenomegaly syndrome

\Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Optic nerve oedema, splenomegaly syndrome

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

\Hereditary disorder of the visual system\Inherited optic neuropathy\Optic nerve oedema, splenomegaly syndrome

\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Optic nerve oedema, splenomegaly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Optic nerve oedema, splenomegaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Optic nerve oedema, splenomegaly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Optic nerve oedema, splenomegaly syndrome
\Disease\Disorder of body system\Disorder of immune structure\Disorder of lymphoid system\Disorder of spleen\Splenomegaly\Optic nerve oedema, splenomegaly syndrome
\Disease\Disorder of body system\Disorder of haematopoietic structure\Disorder of lymphoid system\Disorder of spleen\Splenomegaly\Optic nerve oedema, splenomegaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Optic nerve oedema, splenomegaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Optic nerve oedema, splenomegaly syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Optic nerve oedema, splenomegaly syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Optic nerve oedema, splenomegaly syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Optic nerve oedema, splenomegaly syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Optic nerve oedema, splenomegaly syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Optic nerve oedema, splenomegaly syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Abdominal organomegaly\Splenomegaly\Optic nerve oedema, splenomegaly syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of spleen\Splenomegaly\Optic nerve oedema, splenomegaly syndrome
\Disease\Disorder characterised by oedema\Optic nerve oedema, splenomegaly syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3706354018 Optic nerve oedema, splenomegaly syndrome en Synonym Active Case insensitive SNOMED CT core

3706355017 Optic nerve edema, splenomegaly syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3706353012	Optic nerve edema, splenomegaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3706354018	Optic nerve oedema, splenomegaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3706355017	Optic nerve edema, splenomegaly syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core