770678005: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Edema of extremity\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Finding of limb structure\Disorder of extremity\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Oedema\Oedema of face\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Oedema\Edema of extremity\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Oedema\Disorder characterised by oedema\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like 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-like 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-like syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Finding of brain\Encephalopathy\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Finding of brain\Encephalopathy\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Finding of brain\Encephalopathy\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Finding of head region\Finding of face\...
• \Oedema of face\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disorder of face\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disorder of head\Disorder of face\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disorder of head\Encephalopathy\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disorder of head\Encephalopathy\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disorder of head\Encephalopathy\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like 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-like syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like 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-like syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like 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-like 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-like syndrome
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like 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-like 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-like 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-like 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-like 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-like syndrome
• \Disease\Disorder of extremity\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\Disorder of head\Disorder of face\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\Disorder characterised by oedema\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702073010	PEHO-like syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3702074016	Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3702075015	Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3702076019	Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3702078018	PEHOL (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3702080012	PEHOL (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3702079014	A rare genetic neurological disease characterised by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb oedema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. There is evidence the disease is caused by homozygous mutation in the CCDC88A gene on chromosome 2p16.	en	Definition	Active	Case sensitive	SNOMED CT core
3702081011	A rare genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. There is evidence the disease is caused by homozygous mutation in the CCDC88A gene on chromosome 2p16.	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

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