1222655009: Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome

\General finding of soft tissue\Poor muscle tone\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome

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

\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome

\Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Ear and auditory finding\Hearing finding\Decreased hearing\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome

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

\Hereditary disorder of the visual system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome

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

\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome

\Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome

\Functional finding\Decline in functional status\Decreased hearing\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Functional finding\Hearing finding\Decreased hearing\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome

\Muscle finding\Finding of muscle tone\Poor muscle tone\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Muscle finding\Finding of muscle tone\Decreased muscle tone\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome

\Musculoskeletal finding\Poor muscle tone\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Metabolic disease\Mitochondrial cytopathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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

5048327019 Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5048328012 Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Is a	Decreased hearing	true	Inferred relationship	Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Is a	Mitochondrial cytopathy	true	Inferred relationship	Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Is a	Inherited optic neuropathy	true	Inferred relationship	Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Is a	Decreased muscle tone	true	Inferred relationship	Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Is a	Poor muscle tone	true	Inferred relationship	Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Is a	Disorder of skeletal muscle	true	Inferred relationship	Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Is a	Hereditary ataxia	true	Inferred relationship	Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Is a	Optic atrophy	true	Inferred relationship	Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	4
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	5
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	2
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	2
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Interprets	Muscle tone	true	Inferred relationship	Existential restriction modifier	3
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	3
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Finding site	Optic nerve structure	true	Inferred relationship	Existential restriction modifier	1
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Associated morphology	Atrophy	true	Inferred relationship	Existential restriction modifier	1

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
5048327019	Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5048328012	Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module