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Terminology chevron_right Concepts chevron_right 1303273003

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1303273003
The component that hold information about this concept.
Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (disorder)
Irf2bpl-related regressive neurodevelopmental disorder, dystonia, seizures syndrome
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

Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (disorder)

SCTID: 1303273003, Primitive, Active


1303273003|Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (disorder)|
  • en Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome
  • en Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (disorder)
  • en Irf2bpl-related regressive neurodevelopmental disorder, dystonia, seizures syndrome

1303273003 |Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (disorder)|

<<< 15802004 |Dystonia (disorder)| +
    782964007 |Genetic disease (disorder)| +
    78689005 |Chronic brain syndrome (disorder)| +
    700364009 |Neurodevelopmental disorder (disorder)| +
    128613002 |Seizure disorder (disorder)| +
    52522001 |Degenerative brain disorder (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 76375004 |Extrapyramidal system structure (body structure)| }
        { 363714003 |Interprets (attribute)| = 363847004 |Movement observable (observable entity)| }
        { 370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
Active

5305737011 - Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (en) View

5305737011
en
Synonym (core metadata concept)
Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

5305739014 - Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (disorder) (en) View

5305739014
en
Fully specified name (core metadata concept)
Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

5305738018 - IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (en) View

5305738018
en
Synonym (core metadata concept)
IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (15888187020) - 1303273003 -> 255324009 (363714003) View

363714003 |Interprets (attribute)|
255324009 |Movement (observable entity)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16350970025) - 1303273003 -> 363847004 (363714003) View

363714003 |Interprets (attribute)|
363847004 |Movement observable (observable entity)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15888182025) - 1303273003 -> 15802004 (116680003) View

116680003 |Is a (attribute)|
15802004 |Dystonia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15888184029) - 1303273003 -> 782964007 (116680003) View

116680003 |Is a (attribute)|
782964007 |Genetic disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15888185028) - 1303273003 -> 78689005 (116680003) View

116680003 |Is a (attribute)|
78689005 |Chronic brain syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15888186027) - 1303273003 -> 255314001 (263502005) View

263502005 |Clinical course (attribute)|
255314001 |Progressive (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15888188026) - 1303273003 -> 76375004 (363698007) View

363698007 |Finding site (attribute)|
76375004 |Extrapyramidal system structure (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15888190025) - 1303273003 -> 107669003 (116676008) View

116676008 |Associated morphology (attribute)|
107669003 |Degenerative abnormality (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15888193028) - 1303273003 -> 700364009 (116680003) View

116680003 |Is a (attribute)|
700364009 |Neurodevelopmental disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15888195024) - 1303273003 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15888213021) - 1303273003 -> 128613002 (116680003) View

116680003 |Is a (attribute)|
128613002 |Seizure disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15888214026) - 1303273003 -> 52522001 (116680003) View

116680003 |Is a (attribute)|
52522001 |Degenerative brain disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15888215025) - 1303273003 -> 12738006 (363698007) View

363698007 |Finding site (attribute)|
12738006 |Brain structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

782964007 View

782964007
Genetic disease (disorder)
Genetic disease
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

700364009 View

700364009
Neurodevelopmental disorder (disorder)
Neurodevelopmental disorder
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

52522001 View

52522001
Degenerative brain disorder (disorder)
Cerebral degeneration
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

128613002 View

128613002
Seizure disorder (disorder)
Bệnh co giật
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

15802004 View

15802004
Dystonia (disorder)
Dystonia
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

78689005 View

78689005
Chronic brain syndrome (disorder)
Chronic brain syndrome
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (2daca6cd-5717-5a35-b90c-0c9a51f78d07) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
G93.8
TRUE
ALWAYS G93.8 | 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)|
esc