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Terminology chevron_right Concepts chevron_right 770431001

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770431001
The component that hold information about this concept.
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)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2a mutation (disorder)

SCTID: 770431001, Primitive, Active


770431001|Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2a mutation (disorder)|
  • en Glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2a developmental and epileptic encephalopathy
  • en Glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2a developmental and epileptic encephalopathy (disorder)
  • en Grin2a-dee - grin2a developmental and epileptic encephalopathy
  • en Grin2a developmental and epileptic encephalopathy
  • en Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation

770431001 |Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2a mutation (disorder)|

<<< 11164009 |Autosomal dominant hereditary disorder (disorder)| +
    363235000 |Hereditary disorder of nervous system (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    1275631007 |Developmental and epileptic encephalopathy (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| :
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255398004 |Childhood (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
          363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
          363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
Active

3700829015 - Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (en) View

3700829015
en
Synonym (core metadata concept)
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
False

3700828011 - Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) (en) View

3700828011
en
Fully specified name (core metadata concept)
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
False

3700830013 - Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation (en) View

3700830013
en
Synonym (core metadata concept)
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
False

5443815012 - Glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A developmental and epileptic encephalopathy (en) View

5443815012
en
Synonym (core metadata concept)
Glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A developmental and epileptic encephalopathy
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

5443814011 - Glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A developmental and epileptic encephalopathy (disorder) (en) View

5443814011
en
Fully specified name (core metadata concept)
Glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A developmental and epileptic encephalopathy (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

5443817016 - GRIN2A-DEE - GRIN2A developmental and epileptic encephalopathy (en) View

5443817016
en
Synonym (core metadata concept)
GRIN2A-DEE - GRIN2A developmental and epileptic encephalopathy
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

5443816013 - GRIN2A developmental and epileptic encephalopathy (en) View

5443816013
en
Synonym (core metadata concept)
GRIN2A developmental and epileptic encephalopathy
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

3700827018 - Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (en) View

3700827018
en
Synonym (core metadata concept)
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

Relationship (9618012029) - 770431001 -> 110359009 (116680003) View

116680003 |Is a (attribute)|
110359009 |Intellectual disability|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16316591024) - 770431001 -> 1362108000 (116680003) View

116680003 |Is a (attribute)|
1362108000 |Genetic intellectual disability (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9618014028) - 770431001 -> 71831005 (116680003) View

116680003 |Is a (attribute)|
71831005 |Symptomatic generalized epilepsy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (9618015027) - 770431001 -> 83678007 (363698007) View

363698007 |Finding site (attribute)|
83678007 |Cerebral structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (11572894024) - 770431001 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (15612015023) - 770431001 -> 1275631007 (116680003) View

116680003 |Is a (attribute)|
1275631007 |Developmental and epileptic encephalopathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15612016024) - 770431001 -> 12738006 (363698007) View

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

Relationship (15612017026) - 770431001 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9618016026) - 770431001 -> 443410001 (116680003) View

116680003 |Is a (attribute)|
443410001 |Childhood seizure (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (15094610028) - 770431001 -> 247573007 (363714003) View

363714003 |Interprets (attribute)|
247573007 |Intellectual ability (observable entity)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15094611029) - 770431001 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15095975020) - 770431001 -> 406208005 (363714003) View

363714003 |Interprets (attribute)|
406208005 |Adaptation behavior (observable entity)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15095976021) - 770431001 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13069843022) - 770431001 -> 363070008 (116680003) View

116680003 |Is a (attribute)|
363070008 |Developmental hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9618013023) - 770431001 -> 11164009 (116680003) View

116680003 |Is a (attribute)|
11164009 |Autosomal dominant hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9618017024) - 770431001 -> 363235000 (116680003) View

116680003 |Is a (attribute)|
363235000 |Hereditary disorder of nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9618018025) - 770431001 -> 255398004 (246454002) View

246454002 |Occurrence (attribute)|
255398004 |Childhood (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

1362108000 View

1362108000
Genetic intellectual disability (disorder)
Genetic intellectual disability
900000000000073002 |Sufficiently defined by necessary conditions 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

363070008 View

363070008
Developmental hereditary disorder (disorder)
Developmental hereditary disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

11164009 View

11164009
Autosomal dominant hereditary disorder (disorder)
Ad - autosomal dominant
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

363235000 View

363235000
Hereditary disorder of nervous system (disorder)
Hereditary disorder of nervous system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (9e8f688b-6242-5084-b1c3-8f43a08f1fe4) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E72.1
TRUE
ALWAYS E72.1 | 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