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Terminology chevron_right Concepts chevron_right 734434007

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Component

734434007

The component that hold information about this concept.

Fully Specified Name (FSN)

Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)

Shortest Term

Antiquitin deficiency

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

Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)

SCTID: 734434007, Primitive, Active

734434007|Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)|

en Pd-dee - pyridoxine-dependent developmental and epileptic encephalopathy
en Pyridoxine-dependent dee (developmental and epileptic encephalopathy)
en Pyridoxine-dependent developmental and epileptic encephalopathy
en Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
en Antiquitin deficiency
en Pyridoxine-dependent epilepsy
en Vitamin b6-dependent seizures

Expression

734434007 |Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)|
 <<< 16279005 |Disorder of neurometabolic regulation (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363104002 |Hereditary disorder of endocrine system (disorder)| + 
128190004 |Inherited metabolic disorder of nervous system (disorder)| + 
16909721000119103 |Disorder of gamma-aminobutyric acid metabolism (disorder)| + 
1275631007 |Developmental and epileptic encephalopathy (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)|
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 113331007 |Structure of endocrine system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5407338017 - PD-DEE - pyridoxine-dependent developmental and epileptic encephalopathy (en) View
5407338017	en	Synonym (core metadata concept)	PD-DEE - pyridoxine-dependent developmental and epileptic encephalopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5407336018 - Pyridoxine-dependent DEE (developmental and epileptic encephalopathy) (en) View
5407336018	en	Synonym (core metadata concept)	Pyridoxine-dependent DEE (developmental and epileptic encephalopathy)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
5407337010 - Pyridoxine-dependent developmental and epileptic encephalopathy (en) View
5407337010	en	Synonym (core metadata concept)	Pyridoxine-dependent developmental and epileptic encephalopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5407335019 - Pyridoxine-dependent developmental and epileptic encephalopathy (disorder) (en) View
5407335019	en	Fully specified name (core metadata concept)	Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3506707017 - Pyridoxine-dependent epilepsy (disorder) (en) View
3506707017	en	Fully specified name (core metadata concept)	Pyridoxine-dependent epilepsy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
3506709019 - Antiquitin deficiency (en) View
3506709019	en	Synonym (core metadata concept)	Antiquitin deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3506708010 - Pyridoxine-dependent epilepsy (en) View
3506708010	en	Synonym (core metadata concept)	Pyridoxine-dependent epilepsy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3506710012 - Vitamin B6-dependent seizures (en) View
3506710012	en	Synonym (core metadata concept)	Vitamin B6-dependent seizures	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (7138628020) - 734434007 -> 84757009 (116680003) View
116680003 \|Is a (attribute)\|	84757009 \|Epilepsy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7138637020) - 734434007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7141544026) - 734434007 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16228032028) - 734434007 -> 1275631007 (116680003) View
116680003 \|Is a (attribute)\|	1275631007 \|Developmental and epileptic encephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16228033022) - 734434007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16228034027) - 734434007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15711222020) - 734434007 -> 16909721000119103 (116680003) View
116680003 \|Is a (attribute)\|	16909721000119103 \|Disorder of gamma-aminobutyric acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7138633024) - 734434007 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15591407021) - 734434007 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7138630022) - 734434007 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7138632025) - 734434007 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15120427025) - 734434007 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7138634029) - 734434007 -> 91175000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	91175000 \|Seizure (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7138627026) - 734434007 -> 16279005 (116680003) View
116680003 \|Is a (attribute)\|	16279005 \|Disorder of neurometabolic regulation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7138629028) - 734434007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7138631021) - 734434007 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7138635028) - 734434007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7141543021) - 734434007 -> 113331007 (363698007) View
363698007 \|Finding site (attribute)\|	113331007 \|Structure of endocrine system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
16909721000119103 View
16909721000119103	Disorder of gamma-aminobutyric acid metabolism (disorder)	Disorder of gamma aminobutyric acid metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1275631007 View
1275631007	Developmental and epileptic encephalopathy (disorder)	Developmental and epileptic encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
128190004 View
128190004	Inherited metabolic disorder of nervous system (disorder)	Inherited metabolic disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
16279005 View
16279005	Disorder of neurometabolic regulation (disorder)	Disorder of neurometabolic regulation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363104002 View
363104002	Hereditary disorder of endocrine system (disorder)	Hereditary disorder of endocrine system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
717276003 View
717276003	Folinic acid responsive developmental and epileptic encephalopathy (disorder)	Folinic acid responsive seizures	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 (49173ff1-0294-5475-8435-e1afa571f2a3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G40.8	TRUE	ALWAYS G40.8	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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