312942003: Inherited optic neuropathy (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy

\constatation à propos des yeux ou de la vue\affection du système visuel\...

\Hereditary disorder of the visual system\Inherited optic neuropathy

\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy
\Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

456757015 Inherited optic neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

709669019 Inherited optic neuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inherited optic neuropathy	est un(e) (attribut)	Hereditary disorder of the visual system	true	Inferred relationship	Some
Inherited optic neuropathy	est un(e) (attribut)	Hereditary disorder of nervous system	true	Inferred relationship	Some
Inherited optic neuropathy	est un(e) (attribut)	Optic neuropathy	false	Inferred relationship	Some
Inherited optic neuropathy	est un(e) (attribut)	Disorder of optic nerve	true	Inferred relationship	Some
Inherited optic neuropathy	localisation d'une constatation (attribut)	Optic nerve structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Optic nerve edema, splenomegaly syndrome (disorder)	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité	est un(e) (attribut)	False	Inherited optic neuropathy	Inferred relationship	Some
Infantile cerebellar and retinal degeneration (disorder)	est un(e) (attribut)	False	Inherited optic neuropathy	Inferred relationship	Some
Hereditary optic atrophy	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
syndrome acrootooculaire	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Isolated optic nerve hypoplasia (disorder)	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Polymicrogyria with optic nerve hypoplasia	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
diabète sucré et diabète insipide avec atrophie optique et surdité	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Ocular anomalies, axonal neuropathy, developmental delay syndrome	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Colobomatous macrophthalmia with microcornea syndrome (disorder)	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Autosomal recessive isolated optic atrophy (disorder)	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Familial cavitary optic disc anomaly (disorder)	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Multiple mitochondrial dysfunctions syndrome type 4	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder)	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Auditory neuropathy, optic atrophy syndrome (disorder)	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Dominant hereditary optic atrophy	est un(e) (attribut)	False	Inherited optic neuropathy	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
X-linked spastic paraplegia type 2 (disorder)	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome	est un(e) (attribut)	True	Inherited optic neuropathy	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
456757015	Inherited optic neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
709669019	Inherited optic neuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core