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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\œdème d'une extrémité\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Oedema\Edema of face (finding)\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Oedema\œdème d'une extrémité\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Oedema\Disorder characterized by edema\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Finding of head region\Finding of face\...
• \Edema of face (finding)\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disorder of face (disorder)\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \affection de la tête\Disorder of face (disorder)\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\affection d'une extrémité\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\Disorder characterized by edema\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
• \Disease\maladie chronique\trouble neurologique chronique\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702073010	PEHO-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702074016	Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702075015	Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702076019	Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702078018	PEHOL (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702080012	PEHOL (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start