442511009: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\œdème d'une extrémité\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Oedema\œdème d'une extrémité\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Oedema\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos du système nerveux central\Second cranial nerve finding\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \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\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \affection de la tête\Disorder of brain (disorder)\...
• \trouble convulsif\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Chronic brain syndrome\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Degenerative brain disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \constatation à propos des yeux ou de la vue\Second cranial nerve finding\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Neurological finding\Cranial nerve finding\Second cranial nerve finding\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\lymphœdème héréditaire\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic brain syndrome\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy 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\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy 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\Degenerative brain disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy 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\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection d'une extrémité\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\maladie chronique\trouble neurologique chronique\Chronic brain syndrome\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\trouble du développement\Primary lymphedema\lymphœdème héréditaire\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\lymphœdème héréditaire\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2009. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2820529017	Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2820530010	Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2820531014	Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702069012	PEHO syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702070013	PEHO (progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702071012	PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702082016	A rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. Onset occurs during the first few weeks or months of life with hypotonia, poor feeding, drowsiness and abnormal movements. Infantile spasms, hypsarrhythmia and seizures appear during the first year of life. Visual loss, abnormal eye movements and optic atrophy also occur during infancy. Transmission appears to be autosomal recessive. A significant number of patients have been described who displayed most of the diagnostic criteria and features of PEHO syndrome, but did not appear to have cerebral atrophy on MRI, lacked the ophthalmologic signs and showed no reduction in CSF IGF-1 levels. This group of patients was diagnosed with PEHO-like syndrome. The prognosis is poor and most patients die before 15 years of age, mainly as a result of pneumonia or aspiration.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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