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Terminology chevron_right Concepts chevron_right 770728003

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770728003
The component that hold information about this concept.
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
Traboulsi 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

Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)

SCTID: 770728003, Primitive, Active


770728003|Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)|
  • en Facial dysmorphism, lens dislocation, anterior segment abnormalities, nontraumatic conjunctive cyst syndrome
  • en Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome
  • en Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
  • en Fdlab (facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb) syndrome
  • en Traboulsi syndrome

770728003 |Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)|

<<< 65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| +
    128353007 |Congenital anomaly of lens (disorder)| +
    363343008 |Hereditary disorder of the visual system (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    20842008 |Luxation of eye (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)| }
        { 116676008 |Associated morphology (attribute)| = 87642003 |Dislocation (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 78076003 |Structure of lens of eye (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
Active

3702279019 - Facial dysmorphism, lens dislocation, anterior segment abnormalities, nontraumatic conjunctive cyst syndrome (en) View

3702279019
en
Synonym (core metadata concept)
Facial dysmorphism, lens dislocation, anterior segment abnormalities, nontraumatic conjunctive cyst syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3702277017 - Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (en) View

3702277017
en
Synonym (core metadata concept)
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3702276014 - Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder) (en) View

3702276014
en
Fully specified name (core metadata concept)
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3702280016 - FDLAB (facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb) syndrome (en) View

3702280016
en
Synonym (core metadata concept)
FDLAB (facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb) syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3702278010 - Traboulsi syndrome (en) View

3702278010
en
Synonym (core metadata concept)
Traboulsi syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (15281054023) - 770728003 -> 20842008 (116680003) View

116680003 |Is a (attribute)|
20842008 |Luxation of eye (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13069856026) - 770728003 -> 363070008 (116680003) View

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

Relationship (9635975029) - 770728003 -> 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 (9635976028) - 770728003 -> 128353007 (116680003) View

116680003 |Is a (attribute)|
128353007 |Congenital anomaly of lens (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9635977021) - 770728003 -> 255399007 (246454002) View

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

Relationship (9635978027) - 770728003 -> 255399007 (246454002) View

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

Relationship (9635981021) - 770728003 -> 363343008 (116680003) View

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

Relationship (9635982025) - 770728003 -> 85995004 (116680003) View

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

Relationship (9639033020) - 770728003 -> 78076003 (363698007) View

363698007 |Finding site (attribute)|
78076003 |Structure of lens of eye (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9639035029) - 770728003 -> 89545001 (363698007) View

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

Relationship (10530222027) - 770728003 -> 308490002 (370135005) View

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

Relationship (10530223021) - 770728003 -> 308490002 (370135005) View

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

Relationship (10546632023) - 770728003 -> 49755003 (116676008) View

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

Relationship (11168514026) - 770728003 -> 87642003 (116676008) View

116676008 |Associated morphology (attribute)|
87642003 |Dislocation (morphologic abnormality)|
2
900000000000011006 |Inferred relationship (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

20842008 View

20842008
Luxation of eye (disorder)
Luxation of eye
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

128353007 View

128353007
Congenital anomaly of lens (disorder)
Congenital lens anomaly
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

85995004 View

85995004
Autosomal recessive hereditary disorder (disorder)
Hereditary disorder trait, nos
900000000000074008 |Necessary but not sufficient concept 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 (3bafff6b-9187-53ac-8565-04a4fdfab20b) 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)|
esc