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Terminology chevron_right Concepts chevron_right 1172630000

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1172630000
The component that hold information about this concept.
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (disorder)
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability 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

Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (disorder)

SCTID: 1172630000, Primitive, Active


1172630000|Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (disorder)|
  • en Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
  • en Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (disorder)

1172630000 |Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (disorder)|

<<< 11164009 |Autosomal dominant hereditary disorder (disorder)| +
    128613002 |Seizure disorder (disorder)| +
    224958001 |Global developmental delay (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    363235000 |Hereditary disorder of nervous system (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| +
    1137472008 |Neurodevelopmental delay (disorder)| :
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)| }
        { 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

4634873019 - Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (en) View

4634873019
en
Synonym (core metadata concept)
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

4634875014 - Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (disorder) (en) View

4634875014
en
Fully specified name (core metadata concept)
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (16407843026) - 1172630000 -> 1137472008 (116680003) View

116680003 |Is a (attribute)|
1137472008 |Neurodevelopmental delay (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14009385025) - 1172630000 -> 110359009 (116680003) View

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

Relationship (16316872029) - 1172630000 -> 1362108000 (116680003) View

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

Relationship (15095333027) - 1172630000 -> 247573007 (363714003) View

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

Relationship (15095334022) - 1172630000 -> 260379002 (363713009) View

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

Relationship (15096697026) - 1172630000 -> 406208005 (363714003) View

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

Relationship (15096698020) - 1172630000 -> 260379002 (363713009) View

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

Relationship (14009386029) - 1172630000 -> 11164009 (116680003) View

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

Relationship (14009387022) - 1172630000 -> 128613002 (116680003) View

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

Relationship (14009388028) - 1172630000 -> 224958001 (116680003) View

116680003 |Is a (attribute)|
224958001 |Global developmental delay (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14009389020) - 1172630000 -> 363070008 (116680003) View

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

Relationship (14009390027) - 1172630000 -> 363235000 (116680003) View

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

Relationship (14009391028) - 1172630000 -> 12738006 (363698007) View

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

Relationship (14009392024) - 1172630000 -> 308490002 (370135005) View

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

1137472008 View

1137472008
Neurodevelopmental delay (disorder)
Neurodevelopmental delay
900000000000073002 |Sufficiently defined by necessary conditions definition status (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

363070008 View

363070008
Developmental hereditary disorder (disorder)
Developmental hereditary disorder
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

11164009 View

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

224958001 View

224958001
Global developmental delay (disorder)
Global developmental delay
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 (41d2aa94-0377-51d4-aea8-d50ac6a08149) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
F84.8
TRUE
ALWAYS F84.8 | 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