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Terminology chevron_right Concepts chevron_right 765089003

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765089003
The component that hold information about this concept.
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
Focal epilepsy, intellectual disability, dysarthria, ataxia 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

Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)

SCTID: 765089003, Primitive, Active


765089003|Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)|
  • en Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome
  • en Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
  • en Focal epilepsy, intellectual disability, dysarthria, ataxia syndrome

765089003 |Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)|

<<< 82354003 |Multiple system malformation syndrome (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    253171007 |Congenital malformation of cerebellum (disorder)| +
    363235000 |Hereditary disorder of nervous system (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    230381009 |Focal epilepsy (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (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

3656367010 - Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (en) View

3656367010
en
Synonym (core metadata concept)
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3656366018 - Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) (en) View

3656366018
en
Fully specified name (core metadata concept)
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3656368017 - Focal epilepsy, intellectual disability, dysarthria, ataxia syndrome (en) View

3656368017
en
Synonym (core metadata concept)
Focal epilepsy, intellectual disability, dysarthria, ataxia syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

Relationship (9214467021) - 765089003 -> 110359009 (116680003) View

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

Relationship (16316629021) - 765089003 -> 1362108000 (116680003) View

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

Relationship (9214464025) - 765089003 -> 29753000 (116680003) View

116680003 |Is a (attribute)|
29753000 |Focal onset epileptic seizure (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (15588221028) - 765089003 -> 230381009 (116680003) View

116680003 |Is a (attribute)|
230381009 |Focal epilepsy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15094718027) - 765089003 -> 247573007 (363714003) View

363714003 |Interprets (attribute)|
247573007 |Intellectual ability (observable entity)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15094719024) - 765089003 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096083022) - 765089003 -> 406208005 (363714003) View

363714003 |Interprets (attribute)|
406208005 |Adaptation behavior (observable entity)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096084027) - 765089003 -> 260379002 (363713009) View

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

Relationship (13069938027) - 765089003 -> 363070008 (116680003) View

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

Relationship (9214470020) - 765089003 -> 21390004 (116676008) View

116676008 |Associated morphology (attribute)|
21390004 |Developmental anomaly (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10526428025) - 765089003 -> 308490002 (370135005) View

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

Relationship (10526429022) - 765089003 -> 49755003 (116676008) View

116676008 |Associated morphology (attribute)|
49755003 |Morphologically abnormal structure (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9214465029) - 765089003 -> 82354003 (116680003) View

116680003 |Is a (attribute)|
82354003 |Multiple system malformation syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9214466028) - 765089003 -> 85995004 (116680003) View

116680003 |Is a (attribute)|
85995004 |Autosomal recessive hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9214468027) - 765089003 -> 253171007 (116680003) View

116680003 |Is a (attribute)|
253171007 |Congenital malformation of cerebellum (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9214469024) - 765089003 -> 363235000 (116680003) View

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

Relationship (9214471024) - 765089003 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9214472028) - 765089003 -> 113305005 (363698007) View

363698007 |Finding site (attribute)|
113305005 |Cerebellar structure (body structure)|
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

363070008 View

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

253171007 View

253171007
Congenital malformation of cerebellum (disorder)
Dysgenesis of the cerebellum
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

82354003 View

82354003
Multiple system malformation syndrome (disorder)
Multiple system malformation syndrome
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

230381009 View

230381009
Focal epilepsy (disorder)
Local epilepsy
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 (f398d324-d4ad-5dfb-ad6f-290ed18f18c8) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q04.8
TRUE
ALWAYS Q04.8 | 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