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Terminology chevron_right Concepts chevron_right 1172698005

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1172698005
The component that hold information about this concept.
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder)
Tango2-related metabolic encephalopathy, arrhythmia 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

Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder)

SCTID: 1172698005, Primitive, Active


1172698005|Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder)|
  • en Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome
  • en Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder)
  • en Tango2-related metabolic encephalopathy, arrhythmia syndrome
  • en Transport and golgi organisation 2 homolog-related metabolic encephalopathy, arrhythmia syndrome
  • en Transport and golgi organization 2 homolog-related metabolic encephalopathy, arrhythmia syndrome

1172698005 |Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder)|

<<< 106018006 |Hereditary degenerative disease of central nervous system (disorder)| +
    363005004 |Cardiovascular system hereditary disorder (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    363212003 |Hereditary disorder of musculoskeletal system (disorder)| +
    50122000 |Metabolic encephalopathy (disorder)| +
    698270004 |Cardiac arrhythmia associated with genetic disorder (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    240131006 |Rhabdomyolysis (disorder)| +
    52522001 |Degenerative brain disorder (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| +
    1078291003 |Recurrent encephalopathy (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)| }
        { 263502005 |Clinical course (attribute)| = 255227004 |Recurrent (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 89010004 |Rhabdomyolysis (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 24964005 |Cardiac conducting system structure (body structure)| }
        { 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

4635441010 - Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (en) View

4635441010
en
Synonym (core metadata concept)
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

4635439014 - Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) (en) View

4635439014
en
Fully specified name (core metadata concept)
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

4635440011 - TANGO2-related metabolic encephalopathy, arrhythmia syndrome (en) View

4635440011
en
Synonym (core metadata concept)
TANGO2-related metabolic encephalopathy, arrhythmia syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

4635442015 - Transport and golgi organisation 2 homolog-related metabolic encephalopathy, arrhythmia syndrome (en) View

4635442015
en
Synonym (core metadata concept)
Transport and golgi organisation 2 homolog-related metabolic encephalopathy, arrhythmia syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

4635438018 - Transport and golgi organization 2 homolog-related metabolic encephalopathy, arrhythmia syndrome (en) View

4635438018
en
Synonym (core metadata concept)
Transport and golgi organization 2 homolog-related metabolic encephalopathy, arrhythmia syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

Relationship (14012767026) - 1172698005 -> 58184002 (116680003) View

116680003 |Is a (attribute)|
58184002 |Recurrent disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16408247024) - 1172698005 -> 1078291003 (116680003) View

116680003 |Is a (attribute)|
1078291003 |Recurrent encephalopathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14012758026) - 1172698005 -> 110359009 (116680003) View

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

Relationship (16316879022) - 1172698005 -> 1362108000 (116680003) View

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

Relationship (15805563025) - 1172698005 -> 52522001 (116680003) View

116680003 |Is a (attribute)|
52522001 |Degenerative brain disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14012774020) - 1172698005 -> 80891009 (363698007) View

363698007 |Finding site (attribute)|
80891009 |Heart structure (body structure)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (15769066027) - 1172698005 -> 24964005 (363698007) View

363698007 |Finding site (attribute)|
24964005 |Cardiac conducting system structure (body structure)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14012759023) - 1172698005 -> 128237006 (116680003) View

116680003 |Is a (attribute)|
128237006 |Chronic disease of musculoskeletal system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (14012760029) - 1172698005 -> 128238001 (116680003) View

116680003 |Is a (attribute)|
128238001 |Chronic heart disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (14012761025) - 1172698005 -> 128289001 (116680003) View

116680003 |Is a (attribute)|
128289001 |Chronic metabolic disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (14012770027) - 1172698005 -> 78689005 (116680003) View

116680003 |Is a (attribute)|
78689005 |Chronic brain syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (14012762021) - 1172698005 -> 128293007 (116680003) View

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

Relationship (15095347028) - 1172698005 -> 247573007 (363714003) View

363714003 |Interprets (attribute)|
247573007 |Intellectual ability (observable entity)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15095348022) - 1172698005 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096711024) - 1172698005 -> 406208005 (363714003) View

363714003 |Interprets (attribute)|
406208005 |Adaptation behavior (observable entity)|
7
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096712028) - 1172698005 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
7
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14012757020) - 1172698005 -> 106018006 (116680003) View

116680003 |Is a (attribute)|
106018006 |Hereditary degenerative disease of central nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14012763027) - 1172698005 -> 363005004 (116680003) View

116680003 |Is a (attribute)|
363005004 |Cardiovascular system hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14012764022) - 1172698005 -> 363070008 (116680003) View

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

Relationship (14012765023) - 1172698005 -> 363212003 (116680003) View

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

Relationship (14012766024) - 1172698005 -> 50122000 (116680003) View

116680003 |Is a (attribute)|
50122000 |Metabolic encephalopathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14012768020) - 1172698005 -> 698270004 (116680003) View

116680003 |Is a (attribute)|
698270004 |Cardiac arrhythmia associated with genetic disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14012771028) - 1172698005 -> 85995004 (116680003) View

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

Relationship (14012772024) - 1172698005 -> 255227004 (263502005) View

263502005 |Clinical course (attribute)|
255227004 |Recurrent (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14012773025) - 1172698005 -> 127954009 (363698007) View

363698007 |Finding site (attribute)|
127954009 |Skeletal muscle structure (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14012775021) - 1172698005 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14012776022) - 1172698005 -> 12738006 (363698007) View

363698007 |Finding site (attribute)|
12738006 |Brain structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14012777029) - 1172698005 -> 107669003 (116676008) View

116676008 |Associated morphology (attribute)|
107669003 |Degenerative abnormality (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14012780028) - 1172698005 -> 240131006 (116680003) View

116680003 |Is a (attribute)|
240131006 |Rhabdomyolysis (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14012781029) - 1172698005 -> 89010004 (116676008) View

116676008 |Associated morphology (attribute)|
89010004 |Rhabdomyolysis (morphologic abnormality)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

1078291003 View

1078291003
Recurrent encephalopathy (disorder)
Recurrent encephalopathy
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

106018006 View

106018006
Hereditary degenerative disease of central nervous system (disorder)
Hereditary degenerative disease of central nervous system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

240131006 View

240131006
Rhabdomyolysis (disorder)
Tiêu cơ vân
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

698270004 View

698270004
Cardiac arrhythmia associated with genetic disorder (disorder)
Cardiac arrhythmia associated with genetic disorder
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

52522001 View

52522001
Degenerative brain disorder (disorder)
Cerebral degeneration
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

50122000 View

50122000
Metabolic encephalopathy (disorder)
Metabolic brain syndrome
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

363005004 View

363005004
Cardiovascular system hereditary disorder (disorder)
Cardiovascular system hereditary disorder
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 (185211a6-c2ca-5b27-bfdd-c808dfe5cfcc) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
G31.8
TRUE
ALWAYS G31.8 | 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