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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Central nervous system finding\Disorder of the central nervous system (disorder)\...
• \Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Degenerative disease of the central nervous system\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Axonal neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy (disorder)\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy (disorder)\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \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 (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Axonal neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Axonal neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4634481014	Ocular anomalies, axonal neuropathy, developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634482019	Harel Yoon syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634483012	Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399328019	A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399329010	A rare mitochondrial disease characterised by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634481014	Ocular anomalies, axonal neuropathy, developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634482019	Harel Yoon syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634483012	Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634484018	A rare mitochondrial disease with signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399328019	A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399329010	A rare mitochondrial disease characterised by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
516011000274115	Harel-Yoon-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3387971001000114	Optikusatrophie-periphere Neuropathie-Entwicklungsverzögerung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
516011000274115	Harel-Yoon-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3387971001000114	Optikusatrophie-periphere Neuropathie-Entwicklungsverzögerung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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