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Terminology chevron_right Concepts chevron_right 773548008

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773548008
The component that hold information about this concept.
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
Epilepsy, cortical blindness, intellectual disability, facial dysmorphism 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

Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)

SCTID: 773548008, Primitive, Active


773548008|Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)|
  • en Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
  • en Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
  • en Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome

773548008 |Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)|

<<< 363343008 |Hereditary disorder of the visual system (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| +
    363235000 |Hereditary disorder of nervous system (disorder)| +
    68574006 |Cortical blindness (disorder)| +
    54767005 |Disorder of visual pathways (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    1275631007 |Developmental and epileptic encephalopathy (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 128330006 |Structure of brodmann areas 17 (striate cortex), 18 (parastriate cortex) and 19 (peristriate cortex) of the occipital lobe (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 280951005 |Visual pathway structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (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)| }
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
Active

3724045017 - Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (en) View

3724045017
en
Synonym (core metadata concept)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3724043012 - Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) (en) View

3724043012
en
Fully specified name (core metadata concept)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3724044018 - Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome (en) View

3724044018
en
Synonym (core metadata concept)
Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

Relationship (10604076026) - 773548008 -> 110359009 (116680003) View

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

Relationship (16316651029) - 773548008 -> 1362108000 (116680003) View

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

Relationship (10604077024) - 773548008 -> 723125008 (116680003) View

116680003 |Is a (attribute)|
723125008 |Epileptic encephalopathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (15592164020) - 773548008 -> 12738006 (363698007) View

363698007 |Finding site (attribute)|
12738006 |Brain structure (body structure)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15592165021) - 773548008 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15627481020) - 773548008 -> 1275631007 (116680003) View

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

Relationship (15094794026) - 773548008 -> 247573007 (363714003) View

363714003 |Interprets (attribute)|
247573007 |Intellectual ability (observable entity)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15094795025) - 773548008 -> 260379002 (363713009) View

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

Relationship (15096159027) - 773548008 -> 406208005 (363714003) View

363714003 |Interprets (attribute)|
406208005 |Adaptation behavior (observable entity)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096160021) - 773548008 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13069985022) - 773548008 -> 363070008 (116680003) View

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

Relationship (11533900022) - 773548008 -> 54767005 (116680003) View

116680003 |Is a (attribute)|
54767005 |Disorder of visual pathways (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10604065025) - 773548008 -> 363343008 (116680003) View

116680003 |Is a (attribute)|
363343008 |Hereditary disorder of the visual system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10604066029) - 773548008 -> 49755003 (116676008) View

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

Relationship (10604067022) - 773548008 -> 85995004 (116680003) View

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

Relationship (10604068028) - 773548008 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10604069020) - 773548008 -> 89545001 (363698007) View

363698007 |Finding site (attribute)|
89545001 |Face structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10604070021) - 773548008 -> 65094009 (116680003) View

116680003 |Is a (attribute)|
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10604071020) - 773548008 -> 308490002 (370135005) View

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

Relationship (10604072029) - 773548008 -> 363235000 (116680003) View

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

Relationship (10604073023) - 773548008 -> 128330006 (363698007) View

363698007 |Finding site (attribute)|
128330006 |Structure of brodmann areas 17 (striate cortex), 18 (parastriate cortex) and 19 (peristriate cortex) of the occipital lobe (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10604074028) - 773548008 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10604075027) - 773548008 -> 68574006 (116680003) View

116680003 |Is a (attribute)|
68574006 |Cortical blindness (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10604078025) - 773548008 -> 255399007 (246454002) View

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

Relationship (10604079022) - 773548008 -> 280951005 (363698007) View

363698007 |Finding site (attribute)|
280951005 |Visual pathway structure (body structure)|
3
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

54767005 View

54767005
Disorder of visual pathways (disorder)
Disorder of visual pathways
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

65094009 View

65094009
Multiple malformation syndrome with facial defects as major feature (disorder)
Multiple malformation syndrome with facial defects as major feature
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

68574006 View

68574006
Cortical blindness (disorder)
Cortical blindness
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

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

363343008 View

363343008
Hereditary disorder of the visual system (disorder)
Hereditary disorder of the visual system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (29c9505c-386c-542e-b5b5-143d04eb41a6) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
G40.4
TRUE
ALWAYS G40.4 | 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