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Terminology chevron_right Concepts chevron_right 1275631007

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Component

1275631007

The component that hold information about this concept.

Fully Specified Name (FSN)

Developmental and epileptic encephalopathy (disorder)

Shortest Term

Developmental and epileptic encephalopathy

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Developmental and epileptic encephalopathy (disorder)

SCTID: 1275631007, Primitive, Active

1275631007|Developmental and epileptic encephalopathy (disorder)|

en Dee - developmental and epileptic encephalopathy
en Developmental and epileptic encephalopathy
en Developmental and epileptic encephalopathy (disorder)

Expression

1275631007 |Developmental and epileptic encephalopathy (disorder)|
 <<< 700364009 |Neurodevelopmental disorder (disorder)| + 
84757009 |Epilepsy (disorder)| : 
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5224367016 - DEE - developmental and epileptic encephalopathy (en) View
5224367016	en	Synonym (core metadata concept)	DEE - developmental and epileptic encephalopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5224368014 - Developmental and epileptic encephalopathy (en) View
5224368014	en	Synonym (core metadata concept)	Developmental and epileptic encephalopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5224369018 - Developmental and epileptic encephalopathy (disorder) (en) View
5224369018	en	Fully specified name (core metadata concept)	Developmental and epileptic encephalopathy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15592132029) - 1275631007 -> 700364009 (116680003) View
116680003 \|Is a (attribute)\|	700364009 \|Neurodevelopmental disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15592133023) - 1275631007 -> 84757009 (116680003) View
116680003 \|Is a (attribute)\|	84757009 \|Epilepsy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15592134028) - 1275631007 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15592159021) - 1275631007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
700364009 View
700364009	Neurodevelopmental disorder (disorder)	Neurodevelopmental disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
84757009 View
84757009	Epilepsy (disorder)	Epilepsy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1343692008 View
1343692008	Early-infantile developmental and epileptic encephalopathy (disorder)	Early-infantile developmental and epileptic encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1344866009 View
1344866009	Developmental and epileptic encephalopathy with spike-and-wave activation in sleep (disorder)	Developmental and epileptic encephalopathy with spike-and-wave activation in sleep	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237417007 View
1237417007	Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder)	Congenital disorder of glycosylation type 1z	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1230376005 View
1230376005	Contactin associated protein 2-related developmental and epileptic encephalopathy (disorder)	Cortical dysplasia, focal epilepsy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1222656005 View
1222656005	Synaptic ras gtpase activating protein 1-related developmental and epileptic encephalopathy (disorder)	Syngap1 developmental and epileptic encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1222659003 View
1222659003	Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder)	Rnf13-related severe early-onset epileptic encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1222662000 View
1222662000	Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder)	Neonatal epileptic encephalopathy due to glutaminase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208486005 View
1208486005	Multiple mitochondrial dysfunctions syndrome type 2 (disorder)	Bola3 (bola family member 3) deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1197587003 View
1197587003	Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Lethal neonatal rigidity, multifocal seizure syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172844009 View
1172844009	Combined oxidative phosphorylation defect type 27 (disorder)	Combined oxidative phosphorylation defect type 27	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782825008 View
782825008	Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder)	Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
784345005 View
784345005	Epilepsy of infancy with migrating focal seizures (disorder)	Malignant migrating partial epilepsy of infancy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
785726009 View
785726009	Hyperekplexia epilepsy syndrome (disorder)	Hyperekplexia epilepsy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770431001 View
770431001	Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2a mutation (disorder)	Grin2a developmental and epileptic encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771223000 View
771223000	Infantile epileptic dyskinetic encephalopathy (disorder)	Infantile epileptic dyskinetic encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771303004 View
771303004	Severe neonatal onset encephalopathy with microcephaly (disorder)	Mecp2-related severe neonatal encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771516000 View
771516000	Solute carrier family 35 member a2 congenital disorder of glycosylation (disorder)	Congenital disorder of glycosylation type 2m	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773230003 View
773230003	Cyclin-dependent kinase-like 5 deficiency (disorder)	Cdkl5 deficiency disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773421009 View
773421009	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder)	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773548008 View
773548008	Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773643006 View
773643006	Multiple congenital anomalies, hypotonia, seizures syndrome type 2 (disorder)	Multiple congenital anomalies, hypotonia, seizures syndrome type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
778001003 View
778001003	Potassium voltage-gated channel subfamily q member 2 developmental and epileptic encephalopathy (disorder)	Kcnq2-related epileptic encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
778029000 View
778029000	Fast kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Fastkd2-related infantile mitochondrial encephalomyopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
778047006 View
778047006	Myoclonic epilepsy in non-progressive encephalopathy (disorder)	Myoclonic epilepsy in non-progressive encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
765170001 View
765170001	Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder)	Scn8a encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766932005 View
766932005	Gelastic seizures with hypothalamic hamartoma (disorder)	Hypothalamic hamartoma with gelastic seizure	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
768666006 View
768666006	Syntaxin binding protein 1 developmental and epileptic encephalopathy (disorder)	Stxbp1 encephalopathy with epilepsy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
734434007 View
734434007	Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)	Antiquitin deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724576005 View
724576005	Pyridoxal 5-phosphate dependent epilepsy (disorder)	Pyridoxal phosphate-responsive seizures	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725163002 View
725163002	X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	X-linked spasticity, intellectual disability, epilepsy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
726702005 View
726702005	Epileptic encephalopathy with global cerebral demyelination (disorder)	Mitochondrial aspartate-glutamate carrier 1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230437002 View
230437002	Dravet syndrome (disorder)	Dravet syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230418006 View
230418006	Lennox-gastaut syndrome (disorder)	Lennox-gastaut syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230421008 View
230421008	Epilepsy with myoclonic-atonic seizures (disorder)	Doose syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230439004 View
230439004	Epilepsy with continuous spike wave during slow-wave sleep (disorder)	Electrical status epilepticus of slow-wave sleep	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (34c10e7a-3d20-5e5f-9415-520933299511) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	F89	TRUE	ALWAYS F89	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|
ExtendedMap object (b12a28ff-c8d5-5315-a390-89f2d55fd342) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G40.8	TRUE	ALWAYS G40.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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