Loading...
dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 1169355000

Production
add
1169355000
The component that hold information about this concept.
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder)
Zttk 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

Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder)

SCTID: 1169355000, Primitive, Active


1169355000|Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder)|
  • en Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
  • en Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder)
  • en Zhu tokita takenouchi kim syndrome
  • en Zttk syndrome

1169355000 |Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder)|

<<< 65094009 |Multiple malformation syndrome with facial defects as major feature (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)| }
        { 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

4607740010 - Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (en) View

4607740010
en
Synonym (core metadata concept)
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

4607743012 - Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder) (en) View

4607743012
en
Fully specified name (core metadata concept)
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

4607741014 - Zhu Tokita Takenouchi Kim syndrome (en) View

4607741014
en
Synonym (core metadata concept)
Zhu Tokita Takenouchi Kim syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

4607742019 - ZTTK syndrome (en) View

4607742019
en
Synonym (core metadata concept)
ZTTK syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (13943317022) - 1169355000 -> 110359009 (116680003) View

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

Relationship (13943319020) - 1169355000 -> 782964007 (116680003) View

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

Relationship (16316869020) - 1169355000 -> 1362108000 (116680003) View

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

Relationship (15095327020) - 1169355000 -> 247573007 (363714003) View

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

Relationship (15095328026) - 1169355000 -> 260379002 (363713009) View

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

Relationship (15096691025) - 1169355000 -> 406208005 (363714003) View

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

Relationship (15096692021) - 1169355000 -> 260379002 (363713009) View

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

Relationship (13943318028) - 1169355000 -> 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 (13943320025) - 1169355000 -> 255399007 (246454002) View

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

Relationship (13943321026) - 1169355000 -> 89545001 (363698007) View

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

Relationship (13943322022) - 1169355000 -> 49755003 (116676008) View

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

Relationship (13943323028) - 1169355000 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (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

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

ExtendedMap object (656198e9-213e-556a-83b1-e294ca27575e) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q87.0
TRUE
ALWAYS Q87.0 | 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)|

ExtendedMap object (c39fd299-c53d-5ba5-a1a3-7f8ea9116120) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q87.8
TRUE
ALWAYS Q87.8 | 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