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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Edema of extremity (finding)\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Finding of limb structure\Disorder of limb (disorder)\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\Edema of extremity (finding)\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

\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\Disorder of brain (disorder)\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like syndrome

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Seizure\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Finding of brain\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

\Disorder of head (disorder)\Disorder of face (disorder)\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Disorder of head (disorder)\Disorder of brain (disorder)\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\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\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like 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 oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Disease\Disorder of limb (disorder)\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
\Disease\Disorder of head (disorder)\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\Chronic disease\Chronic nervous system disorder (disorder)\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

4625741000172110 syndroom van progressieve encefalopathie, oedeem, hypsaritmie en optische atrofie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Is a	Hereditary lymphedema	false	Inferred relationship	Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Is a	Degenerative brain disorder	true	Inferred relationship	Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Is a	Seizure disorder	true	Inferred relationship	Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Finding site	Brain tissue structure	true	Inferred relationship	Some	1
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Associated morphology	Lymphatic edema	false	Inferred relationship	Some	2
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Is a	Disorder characterized by edema	true	Inferred relationship	Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Is a	Disorder of face (disorder)	true	Inferred relationship	Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Is a	Disorder of limb (disorder)	true	Inferred relationship	Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Is a	Edema of extremity (finding)	true	Inferred relationship	Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Is a	Edema of face (finding)	true	Inferred relationship	Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Finding site	Limb structure	true	Inferred relationship	Some	2
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Associated morphology	Edema	true	Inferred relationship	Some	2
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Finding site	Face structure	true	Inferred relationship	Some	4
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Associated morphology	Edema	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
4625741000172110	syndroom van progressieve encefalopathie, oedeem, hypsaritmie en optische atrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)