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Terminology chevron_right Concepts chevron_right 1367656002

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1367656002
The component that hold information about this concept.
Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder)
Slc12a2-related developmental delay, intellectual disability, sensorineural deafness 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

Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder)

SCTID: 1367656002, Primitive, Active


1367656002|Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder)|
  • en Slc12a2-related developmental delay, intellectual disability, sensorineural deafness syndrome
  • en Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome
  • en Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder)

1367656002 |Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder)|

<<< 1137472008 |Neurodevelopmental delay (disorder)| +
    1899006 |Autosomal hereditary disorder (disorder)| +
    224958001 |Global developmental delay (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    103276001 |Decreased hearing (finding)| +
    194424005 |Sensorineural hearing loss, bilateral (disorder)| +
    232333009 |Hearing loss associated with syndrome (disorder)| +
    788953003 |Hereditary hearing loss (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| :
        { 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)| }
        { 370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25577004 |Right ear structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 89644007 |Left ear structure (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
          363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
Active

5464042011 - SLC12A2-related developmental delay, intellectual disability, sensorineural deafness syndrome (en) View

5464042011
en
Synonym (core metadata concept)
SLC12A2-related developmental delay, intellectual disability, sensorineural deafness syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

5464043018 - Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (en) View

5464043018
en
Synonym (core metadata concept)
Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

5464041016 - Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) (en) View

5464041016
en
Fully specified name (core metadata concept)
Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (16407929024) - 1367656002 -> 1137472008 (116680003) View

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

Relationship (16375029029) - 1367656002 -> 1362108000 (116680003) View

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

Relationship (16375030023) - 1367656002 -> 1899006 (116680003) View

116680003 |Is a (attribute)|
1899006 |Autosomal hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16375031022) - 1367656002 -> 224958001 (116680003) View

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

Relationship (16375032026) - 1367656002 -> 363070008 (116680003) View

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

Relationship (16375033020) - 1367656002 -> 308490002 (370135005) View

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

Relationship (16375034025) - 1367656002 -> 247573007 (363714003) View

363714003 |Interprets (attribute)|
247573007 |Intellectual ability (observable entity)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16375035029) - 1367656002 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16375036028) - 1367656002 -> 406208005 (363714003) View

363714003 |Interprets (attribute)|
406208005 |Adaptation behavior (observable entity)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16375037021) - 1367656002 -> 260379002 (363713009) View

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

Relationship (16375042029) - 1367656002 -> 103276001 (116680003) View

116680003 |Is a (attribute)|
103276001 |Decreased hearing (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16375043023) - 1367656002 -> 194424005 (116680003) View

116680003 |Is a (attribute)|
194424005 |Sensorineural hearing loss, bilateral (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16375044028) - 1367656002 -> 232333009 (116680003) View

116680003 |Is a (attribute)|
232333009 |Hearing loss associated with syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16375045027) - 1367656002 -> 788953003 (116680003) View

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

Relationship (16375046026) - 1367656002 -> 25577004 (363698007) View

363698007 |Finding site (attribute)|
25577004 |Right ear structure (body structure)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16375047024) - 1367656002 -> 89644007 (363698007) View

363698007 |Finding site (attribute)|
89644007 |Left ear structure (body structure)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16375048025) - 1367656002 -> 47078008 (363714003) View

363714003 |Interprets (attribute)|
47078008 |Hearing, function (observable entity)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16375049022) - 1367656002 -> 281300000 (363713009) View

363713009 |Has interpretation (attribute)|
281300000 |Below reference range (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

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

194424005 View

194424005
Sensorineural hearing loss, bilateral (disorder)
Mất thính giác giác quan, hai bên
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

103276001 View

103276001
Decreased hearing (finding)
Nghe kém
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

1899006 View

1899006
Autosomal hereditary disorder (disorder)
Autosomal hereditary disorder
900000000000074008 |Necessary but not sufficient concept 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

232333009 View

232333009
Hearing loss associated with syndrome (disorder)
Syndromal deafness
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (554ac5c6-49f7-5e64-9c12-b014bed4c223) 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