1172586007: Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Degenerative disease of the central nervous system\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome

\Axonal neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome

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

\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome

\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome

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

\Hereditary disorder of the visual system\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome

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

\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome

\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Axonal neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Ocular anomalies, axonal neuropathy, 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\Ocular anomalies, axonal neuropathy, 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\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Axonal neuropathy\Ocular anomalies, axonal neuropathy, 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\Ocular anomalies, axonal neuropathy, 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\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Metabolic disease\Mitochondrial cytopathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Ocular anomalies, axonal neuropathy, developmental delay syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Ocular anomalies, axonal neuropathy, developmental delay syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4634481014 Ocular anomalies, axonal neuropathy, developmental delay syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

4634482019 Harel Yoon syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

4634483012 Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ocular anomalies, axonal neuropathy, developmental delay syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
Ocular anomalies, axonal neuropathy, developmental delay syndrome	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Ocular anomalies, axonal neuropathy, developmental delay syndrome	Is a	Mitochondrial cytopathy	true	Inferred relationship	Existential restriction modifier
Ocular anomalies, axonal neuropathy, developmental delay syndrome	Is a	Inherited optic neuropathy	true	Inferred relationship	Existential restriction modifier
Ocular anomalies, axonal neuropathy, developmental delay syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Ocular anomalies, axonal neuropathy, developmental delay syndrome	Is a	Axonal neuropathy	true	Inferred relationship	Existential restriction modifier
Ocular anomalies, axonal neuropathy, developmental delay syndrome	Is a	Optic atrophy	true	Inferred relationship	Existential restriction modifier
Ocular anomalies, axonal neuropathy, developmental delay syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Ocular anomalies, axonal neuropathy, developmental delay syndrome	Finding site	Optic nerve structure	true	Inferred relationship	Existential restriction modifier	1
Ocular anomalies, axonal neuropathy, developmental delay syndrome	Associated morphology	Atrophy	true	Inferred relationship	Existential restriction modifier	1
Ocular anomalies, axonal neuropathy, developmental delay syndrome	Finding site	Axon structure	true	Inferred relationship	Existential restriction modifier	3

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
4634481014	Ocular anomalies, axonal neuropathy, developmental delay syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4634482019	Harel Yoon syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4634483012	Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module