1222649004: Auditory neuropathy, optic atrophy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome

\Central nervous system finding\Disorder of the central nervous system\...

\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Auditory neuropathy, optic atrophy syndrome
\Degenerative disease of the central nervous system\Optic atrophy\Auditory neuropathy, optic atrophy syndrome

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome

\Optic atrophy\Auditory neuropathy, optic atrophy syndrome

\Finding of head and neck region\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Auditory neuropathy, optic atrophy syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Auditory neuropathy, optic atrophy syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Auditory neuropathy, optic atrophy syndrome
\Ear and auditory finding\Hearing finding\Decreased hearing\Auditory neuropathy, optic atrophy syndrome

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

\Hereditary disorder of the visual system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome

\Optic atrophy\Auditory neuropathy, optic atrophy syndrome

\Functional finding\Decline in functional status\Decreased hearing\Auditory neuropathy, optic atrophy syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Auditory neuropathy, optic atrophy syndrome
\Functional finding\Hearing finding\Decreased hearing\Auditory neuropathy, optic atrophy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Auditory neuropathy, optic atrophy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Auditory neuropathy, optic atrophy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Auditory neuropathy, optic atrophy syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Auditory neuropathy, optic atrophy syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Peripheral nerve disease\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Peripheral nerve disease\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Auditory neuropathy, optic atrophy syndrome
\Disease\Metabolic disease\Mitochondrial cytopathy\Auditory neuropathy, optic atrophy syndrome
\Disease\Disorder of soft tissue\Peripheral nerve disease\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5048300018 Auditory neuropathy, optic atrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
5048301019 Auditory neuropathy, optic atrophy syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Auditory neuropathy, optic atrophy syndrome	Is a	Decreased hearing	true	Inferred relationship	Existential restriction modifier
Auditory neuropathy, optic atrophy syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
Auditory neuropathy, optic atrophy syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Auditory neuropathy, optic atrophy syndrome	Is a	Mitochondrial cytopathy	true	Inferred relationship	Existential restriction modifier
Auditory neuropathy, optic atrophy syndrome	Is a	Inherited optic neuropathy	true	Inferred relationship	Existential restriction modifier
Auditory neuropathy, optic atrophy syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Auditory neuropathy, optic atrophy syndrome	Is a	Optic atrophy	true	Inferred relationship	Existential restriction modifier
Auditory neuropathy, optic atrophy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Auditory neuropathy, optic atrophy syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	3
Auditory neuropathy, optic atrophy syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	2
Auditory neuropathy, optic atrophy syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	2
Auditory neuropathy, optic atrophy syndrome	Finding site	Optic nerve structure	true	Inferred relationship	Existential restriction modifier	1
Auditory neuropathy, optic atrophy syndrome	Associated morphology	Atrophy	true	Inferred relationship	Existential restriction modifier	1
Auditory neuropathy, optic atrophy syndrome	Is a	Disorder of acoustic nerve	true	Inferred relationship	Existential restriction modifier
Auditory neuropathy, optic atrophy syndrome	Finding site	Vestibulocochlear nerve structure	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5048300018	Auditory neuropathy, optic atrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5048301019	Auditory neuropathy, optic atrophy syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module