1275631007: Developmental and epileptic encephalopathy (disorder)

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

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy

\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental and epileptic encephalopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5224367016 DEE - developmental and epileptic encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5224368014 Developmental and epileptic encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5224369018 Developmental and epileptic encephalopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5224365012 A type of epilepsy associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5224366013 A type of epilepsy associated with developmental impairment where the developmental impairment is due to both the underlying aetiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental and epileptic encephalopathy	Is a	Neurodevelopmental disorder	true	Inferred relationship	Some
Developmental and epileptic encephalopathy	Is a	Epilepsy	true	Inferred relationship	Some
Developmental and epileptic encephalopathy	Finding site	Brain structure	true	Inferred relationship	Some	1
Developmental and epileptic encephalopathy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Myoclonic encephalopathy	Is a	False	Developmental and epileptic encephalopathy	Inferred relationship	Some
Early infantile epileptic encephalopathy with suppression bursts	Is a	False	Developmental and epileptic encephalopathy	Inferred relationship	Some
Epilepsy with continuous spike wave during slow-wave sleep	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A developmental and epileptic encephalopathy (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Epilepsy with myoclonic-atonic seizures (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Dravet syndrome	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Early myoclonic encephalopathy	Is a	False	Developmental and epileptic encephalopathy	Inferred relationship	Some
Lennox-Gastaut syndrome	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Infantile epileptic dyskinetic encephalopathy (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Epileptic encephalopathy with global cerebral demyelination (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Potassium voltage-gated channel subfamily Q member 2 developmental and epileptic encephalopathy (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Myoclonic epilepsy in non-progressive encephalopathy	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Hyperekplexia epilepsy syndrome (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Combined oxidative phosphorylation defect type 27	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Multiple mitochondrial dysfunctions syndrome type 2 (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Neonatal epileptic encephalopathy due to glutaminase deficiency	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
CNTNAP2-related developmental and epileptic encephalopathy	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Gelastic seizures with hypothalamic hamartoma (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Folinic acid responsive developmental and epileptic encephalopathy (disorder)	Is a	False	Developmental and epileptic encephalopathy	Inferred relationship	Some
Severe neonatal onset encephalopathy with microcephaly (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Early-infantile developmental and epileptic encephalopathy	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Developmental and epileptic encephalopathy with spike-and-wave activation in sleep (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Epilepsy of infancy with migrating focal seizures (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
Cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy (disorder)	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some
STXBP1 developmental and epileptic encephalopathy	Is a	True	Developmental and epileptic encephalopathy	Inferred relationship	Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5224367016	DEE - developmental and epileptic encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5224368014	Developmental and epileptic encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5224369018	Developmental and epileptic encephalopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5224365012	A type of epilepsy associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5224366013	A type of epilepsy associated with developmental impairment where the developmental impairment is due to both the underlying aetiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core