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Terminology chevron_right Concepts chevron_right 721207002

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721207002
The component that hold information about this concept.
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
Sesame 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

Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)

SCTID: 721207002, Primitive, Active


721207002|Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)|
  • en East (epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome
  • en Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
  • en Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
  • en Sesame (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance) syndrome
  • en Sesame syndrome

721207002 |Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)|

<<< 788953003 |Hereditary hearing loss (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    95568003 |Renal tubular disorder (disorder)| +
    128613002 |Seizure disorder (disorder)| +
    367591000119105 |Hereditary nephropathy (disorder)| +
    763597000 |Hereditary ataxia (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| +
    60700002 |Sensorineural hearing loss (disorder)| :
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 58471003 |Renal tubule structure (body structure)| }
        { 370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)| }
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (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

5155235010 - EAST (epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome (en) View

5155235010
en
Synonym (core metadata concept)
EAST (epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3881201019 - EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome (en) View

3881201019
en
Synonym (core metadata concept)
EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
False

3324614013 - Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (en) View

3324614013
en
Synonym (core metadata concept)
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3324613019 - Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) (en) View

3324613019
en
Fully specified name (core metadata concept)
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3332064010 - SESAME (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance) syndrome (en) View

3332064010
en
Synonym (core metadata concept)
SESAME (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance) syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3331178012 - SESAME syndrome (en) View

3331178012
en
Synonym (core metadata concept)
SESAME syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (6790984027) - 721207002 -> 362991006 (116680003) View

116680003 |Is a (attribute)|
362991006 |Auditory system hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16374425022) - 721207002 -> 788953003 (116680003) View

116680003 |Is a (attribute)|
788953003 |Hereditary hearing loss (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9127914020) - 721207002 -> 110359009 (116680003) View

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

Relationship (16316751023) - 721207002 -> 1362108000 (116680003) View

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

Relationship (15095025021) - 721207002 -> 247573007 (363714003) View

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

Relationship (15095026022) - 721207002 -> 260379002 (363713009) View

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

Relationship (15096389025) - 721207002 -> 406208005 (363714003) View

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

Relationship (15096390023) - 721207002 -> 260379002 (363713009) View

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

Relationship (6790985026) - 721207002 -> 363235000 (116680003) View

116680003 |Is a (attribute)|
363235000 |Hereditary disorder of nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (13069310029) - 721207002 -> 363070008 (116680003) View

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

Relationship (6790987023) - 721207002 -> 12738006 (363698007) View

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

Relationship (6790988029) - 721207002 -> 58471003 (363698007) View

363698007 |Finding site (attribute)|
58471003 |Renal tubule structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6790989021) - 721207002 -> 91159003 (363698007) View

363698007 |Finding site (attribute)|
91159003 |Structure of auditory system (body structure)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6790991029) - 721207002 -> 47078008 (363714003) View

363714003 |Interprets (attribute)|
47078008 |Hearing, function (observable entity)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11574358029) - 721207002 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6790992020) - 721207002 -> 364644000 (363714003) View

363714003 |Interprets (attribute)|
364644000 |Functional observable (observable entity)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6790978025) - 721207002 -> 20262006 (116680003) View

116680003 |Is a (attribute)|
20262006 |Ataxia (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6790981024) - 721207002 -> 91138005 (116680003) View

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

Relationship (6790990028) - 721207002 -> 91175000 (363705008) View

363705008 |Has definitional manifestation (attribute)|
91175000 |Seizure (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (9142251024) - 721207002 -> 763597000 (116680003) View

116680003 |Is a (attribute)|
763597000 |Hereditary ataxia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6790979022) - 721207002 -> 60700002 (116680003) View

116680003 |Is a (attribute)|
60700002 |Sensorineural hearing loss (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6790980020) - 721207002 -> 85995004 (116680003) View

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

Relationship (6790982028) - 721207002 -> 95568003 (116680003) View

116680003 |Is a (attribute)|
95568003 |Renal tubular disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6790983022) - 721207002 -> 128613002 (116680003) View

116680003 |Is a (attribute)|
128613002 |Seizure disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6790986025) - 721207002 -> 367591000119105 (116680003) View

116680003 |Is a (attribute)|
367591000119105 |Hereditary nephropathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

788953003 View

788953003
Hereditary hearing loss (disorder)
Hereditary hearing loss
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

763597000 View

763597000
Hereditary ataxia (disorder)
Hereditary ataxia
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

367591000119105 View

367591000119105
Hereditary nephropathy (disorder)
Hereditary nephropathy
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

128613002 View

128613002
Seizure disorder (disorder)
Bệnh co giật
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

95568003 View

95568003
Renal tubular disorder (disorder)
Rối loạn ống thận
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

60700002 View

60700002
Sensorineural hearing loss (disorder)
Mất thính giác
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

ExtendedMap object (74db24bc-0760-5a0c-8a7d-19d94b2a6cfb) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
R56.8
TRUE
ALWAYS R56.8
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 (77977767-9125-581d-85a2-a3bcae61bfd2) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
G40.4
TRUE
ALWAYS G40.4 | 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 (955ba391-d4e3-5a1b-a984-1ddb3d34a99b) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
H90.5
TRUE
ALWAYS H90.5
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 (d9312381-b13e-5f7e-937c-fd1202e7c421) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
F79.9
TRUE
ALWAYS F79.9
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 (db1b9c7c-2a68-5ed0-bda3-5c0f6f3d233b) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E87.8
TRUE
ALWAYS E87.8
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 (f1e4458a-4111-5b3c-97f2-c80e7e351254) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
R27.0
TRUE
ALWAYS R27.0
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