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Terminology chevron_right Concepts chevron_right 719157002

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719157002
The component that hold information about this concept.
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior 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

X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)

SCTID: 719157002, Primitive, Active


719157002|X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)|
  • en X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome
  • en X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
  • en X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome

719157002 |X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)|

<<< 75047002 |Disorder of skeletal muscle (disorder)| +
    54319003 |Disruptive behavior disorder (disorder)| +
    363212003 |Hereditary disorder of musculoskeletal system (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    398152000 |Poor muscle tone (finding)| +
    1362108000 |Genetic intellectual disability (disorder)| +
    1162976004 |X-linked recessive hereditary disease (disorder)| +
    65094009 |Multiple malformation syndrome with facial defects as major feature (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)| = 127954009 |Skeletal muscle structure (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 371880002 |Abnormally low (qualifier value)|,
          363714003 |Interprets (attribute)| = 6918002 |Muscle tone (observable entity)| }
        { 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

3315195015 - X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (en) View

3315195015
en
Synonym (core metadata concept)
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

3315194016 - X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) (en) View

3315194016
en
Fully specified name (core metadata concept)
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

3315196019 - X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome (en) View

3315196019
en
Synonym (core metadata concept)
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (16405768022) - 719157002 -> 371880002 (363713009) View

363713009 |Has interpretation (attribute)|
371880002 |Abnormally low (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9127860023) - 719157002 -> 110359009 (116680003) View

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

Relationship (16316711020) - 719157002 -> 1362108000 (116680003) View

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

Relationship (15094930026) - 719157002 -> 247573007 (363714003) View

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

Relationship (15094931027) - 719157002 -> 260379002 (363713009) View

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

Relationship (15096295026) - 719157002 -> 406208005 (363714003) View

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

Relationship (15096296025) - 719157002 -> 260379002 (363713009) View

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

Relationship (6619761027) - 719157002 -> 128430005 (116680003) View

116680003 |Is a (attribute)|
128430005 |X-linked hereditary disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (13910008024) - 719157002 -> 1162976004 (116680003) View

116680003 |Is a (attribute)|
1162976004 |X-linked recessive hereditary disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13069136029) - 719157002 -> 363070008 (116680003) View

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

Relationship (6619764024) - 719157002 -> 127954009 (363698007) View

363698007 |Finding site (attribute)|
127954009 |Skeletal muscle structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6619765020) - 719157002 -> 6918002 (363714003) View

363714003 |Interprets (attribute)|
6918002 |Muscle tone (observable entity)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6619766021) - 719157002 -> 21390004 (116676008) View

116676008 |Associated morphology (attribute)|
21390004 |Developmental anomaly (morphologic abnormality)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6619767028) - 719157002 -> 255399007 (246454002) View

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

Relationship (6619768022) - 719157002 -> 89545001 (363698007) View

363698007 |Finding site (attribute)|
89545001 |Face structure (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10529997024) - 719157002 -> 255399007 (246454002) View

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

Relationship (10529998025) - 719157002 -> 89545001 (363698007) View

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

Relationship (10529999022) - 719157002 -> 49755003 (116676008) View

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

Relationship (10530000027) - 719157002 -> 308490002 (370135005) View

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

Relationship (6619760026) - 719157002 -> 91138005 (116680003) View

116680003 |Is a (attribute)|
91138005 |Mental retardation (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6619757022) - 719157002 -> 54319003 (116680003) View

116680003 |Is a (attribute)|
54319003 |Disruptive behavior disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6619758028) - 719157002 -> 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 (6619759020) - 719157002 -> 75047002 (116680003) View

116680003 |Is a (attribute)|
75047002 |Disorder of skeletal muscle (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6619762023) - 719157002 -> 363212003 (116680003) View

116680003 |Is a (attribute)|
363212003 |Hereditary disorder of musculoskeletal system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6619763029) - 719157002 -> 398152000 (116680003) View

116680003 |Is a (attribute)|
398152000 |Poor muscle tone (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

398152000 View

398152000
Poor muscle tone (finding)
Hypotonia
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

1162976004 View

1162976004
X-linked recessive hereditary disease (disorder)
X-linked recessive hereditary disease
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

54319003 View

54319003
Disruptive behavior disorder (disorder)
Rối loạn hành vi gây rối
900000000000074008 |Necessary but not sufficient concept 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

75047002 View

75047002
Disorder of skeletal muscle (disorder)
Disorder of muscle
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

363212003 View

363212003
Hereditary disorder of musculoskeletal system (disorder)
Hereditary disorder of musculoskeletal system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (6a96dcca-25c4-5c41-9d20-fb1ade23f82d) 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