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

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Edema of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Finding of limb structure\Disorder of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Oedema\Edema of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Oedema\Disorder characterised by oedema\Lymphoedema\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Optic nerve finding\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Finding of brain\Encephalopathy\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Finding of brain\Encephalopathy\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Finding of brain\Encephalopathy\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disorder of head\Encephalopathy\...
• \Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Progressive encephalopathy with oedema, 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 oedema, hypsarrhythmia and optic atrophy syndrome
• \Eye / vision finding\Optic nerve finding\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Neurological finding\Cranial nerve finding\Optic nerve finding\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Progressive encephalopathy with oedema, 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 oedema, 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 oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary lymphoedema\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Progressive encephalopathy with oedema, 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 oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Progressive encephalopathy with oedema, 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 oedema, 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 oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Progressive encephalopathy with oedema, 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 oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Disorder characterised by oedema\Lymphoedema\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Developmental disorder\Primary lymphoedema\Hereditary lymphoedema\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary lymphoedema\Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
2820530010	Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
2820531014	Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3702069012	PEHO syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3702070013	PEHO (progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3702071012	PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start