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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\...
• \maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \maladie dégénérative du système nerveux central\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Axonal neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disorder of visual pathways (disorder)\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\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\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\maladie héréditaire\Developmental hereditary disorder\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Axonal neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Axonal neuropathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \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\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \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\Optic atrophy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\trouble métabolique\Mitochondrial cytopathy\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Ocular anomalies, axonal neuropathy, developmental delay syndrome
• \Disease\trouble du développement\retard de développement\Global developmental delay\Ocular anomalies, axonal neuropathy, developmental delay syndrome

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
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

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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