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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Finding of limb structure\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Finding of limb structure\Disorder of limb (disorder)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Oedema\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Oedema\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Second cranial nerve finding\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \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\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Eye / vision finding\Second cranial nerve finding\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\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\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\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\Hereditary disease\Developmental hereditary disorder\Hereditary lymphedema\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\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\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\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\Disorder of body system\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\Disorder of body system\Disorder 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\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of limb (disorder)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of head (disorder)\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\Hereditary lymphedema\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Developmental disorder\Primary lymphedema\Hereditary lymphedema\Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary lymphedema\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

Expanded Value Set

This concept is not in any reference sets

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