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Terminology chevron_right Concepts chevron_right 1260130005

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1260130005
The component that hold information about this concept.
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder)
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal 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

Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder)

SCTID: 1260130005, Primitive, Active


1260130005|Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder)|
  • en Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome
  • en Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder)
  • en Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome

1260130005 |Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder)|

<<< 224958001 |Global developmental delay (disorder)| +
    231520001 |Behavioral syndrome associated with physiological disturbance and physical factors (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    609559001 |Hereditary essential tremor (disorder)| +
    65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    128283000 |Chronic nervous system disorder (disorder)| +
    128293007 |Chronic mental disorder (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| +
    1137472008 |Neurodevelopmental delay (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)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
        { 363714003 |Interprets (attribute)| = 363847004 |Movement observable (observable entity)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
Active

5159288014 - Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (en) View

5159288014
en
Synonym (core metadata concept)
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

5159289018 - Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder) (en) View

5159289018
en
Fully specified name (core metadata concept)
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

5159290010 - Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome (en) View

5159290010
en
Synonym (core metadata concept)
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (16407882029) - 1260130005 -> 1137472008 (116680003) View

116680003 |Is a (attribute)|
1137472008 |Neurodevelopmental delay (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15470415027) - 1260130005 -> 255324009 (363714003) View

363714003 |Interprets (attribute)|
255324009 |Movement (observable entity)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16350887027) - 1260130005 -> 363847004 (363714003) View

363714003 |Interprets (attribute)|
363847004 |Movement observable (observable entity)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15470408024) - 1260130005 -> 110359009 (116680003) View

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

Relationship (16316947028) - 1260130005 -> 1362108000 (116680003) View

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

Relationship (15470409027) - 1260130005 -> 224958001 (116680003) View

116680003 |Is a (attribute)|
224958001 |Global developmental delay (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15470410021) - 1260130005 -> 231520001 (116680003) View

116680003 |Is a (attribute)|
231520001 |Behavioral syndrome associated with physiological disturbance and physical factors (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15470411020) - 1260130005 -> 363070008 (116680003) View

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

Relationship (15470412029) - 1260130005 -> 609559001 (116680003) View

116680003 |Is a (attribute)|
609559001 |Hereditary essential tremor (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15470413023) - 1260130005 -> 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 (15470414028) - 1260130005 -> 85995004 (116680003) View

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

Relationship (15470416026) - 1260130005 -> 25087005 (363698007) View

363698007 |Finding site (attribute)|
25087005 |Structure of nervous system (body structure)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15470417024) - 1260130005 -> 247573007 (363714003) View

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

Relationship (15470418025) - 1260130005 -> 260379002 (363713009) View

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

Relationship (15470419022) - 1260130005 -> 406208005 (363714003) View

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

Relationship (15470420027) - 1260130005 -> 260379002 (363713009) View

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

Relationship (15470421028) - 1260130005 -> 255399007 (246454002) View

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

Relationship (15470422024) - 1260130005 -> 89545001 (363698007) View

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

Relationship (15470423025) - 1260130005 -> 49755003 (116676008) View

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

Relationship (15470424020) - 1260130005 -> 308490002 (370135005) View

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

Relationship (15470425021) - 1260130005 -> 128283000 (116680003) View

116680003 |Is a (attribute)|
128283000 |Chronic nervous system disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15470426022) - 1260130005 -> 128293007 (116680003) View

116680003 |Is a (attribute)|
128293007 |Chronic mental disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15470427029) - 1260130005 -> 255314001 (263502005) View

263502005 |Clinical course (attribute)|
255314001 |Progressive (qualifier value)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

1137472008 View

1137472008
Neurodevelopmental delay (disorder)
Neurodevelopmental delay
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

363070008 View

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

609559001 View

609559001
Hereditary essential tremor (disorder)
Chứng run cơ di truyền
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

128283000 View

128283000
Chronic nervous system disorder (disorder)
Chronic nervous system disease
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

128293007 View

128293007
Chronic mental disorder (disorder)
Chronic mental disease
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

224958001 View

224958001
Global developmental delay (disorder)
Global developmental delay
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

231520001 View

231520001
Behavioral syndrome associated with physiological disturbance and physical factors (disorder)
Behavioral syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (ad7b7178-af4d-536f-afba-dce02b25b3d6) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
F78.1
TRUE
ALWAYS F78.1 | 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