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Terminology chevron_right Concepts chevron_right 1300131002

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1300131002
The component that hold information about this concept.
Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder)
Nrxn1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance
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

Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder)

SCTID: 1300131002, Primitive, Active


1300131002|Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder)|
  • en Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance
  • en Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder)
  • en Nrxn1(neurexin 1) related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance
  • en Nrxn1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance

1300131002 |Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder)|

<<< 224958001 |Global developmental delay (disorder)| +
    271794005 |Disorder of sleep-wake cycle (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    40700009 |Severe intellectual disability (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| +
    1137472008 |Neurodevelopmental delay (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)| }
Active

5298234017 - Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (en) View

5298234017
en
Synonym (core metadata concept)
Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

5298235016 - Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) (en) View

5298235016
en
Fully specified name (core metadata concept)
Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

5298237012 - NRXN1(neurexin 1) related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (en) View

5298237012
en
Synonym (core metadata concept)
NRXN1(neurexin 1) related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

5298236015 - NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (en) View

5298236015
en
Synonym (core metadata concept)
NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (16407914022) - 1300131002 -> 1137472008 (116680003) View

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

Relationship (16316993025) - 1300131002 -> 1362108000 (116680003) View

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

Relationship (15861359023) - 1300131002 -> 224958001 (116680003) View

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

Relationship (15861360029) - 1300131002 -> 271794005 (116680003) View

116680003 |Is a (attribute)|
271794005 |Disorder of sleep-wake cycle (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15861361025) - 1300131002 -> 363070008 (116680003) View

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

Relationship (15861362021) - 1300131002 -> 40700009 (116680003) View

116680003 |Is a (attribute)|
40700009 |Severe intellectual disability (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15861363027) - 1300131002 -> 85995004 (116680003) View

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

Relationship (15861364022) - 1300131002 -> 308490002 (370135005) View

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

Relationship (15861365023) - 1300131002 -> 247573007 (363714003) View

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

Relationship (15861366024) - 1300131002 -> 260379002 (363713009) View

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

Relationship (15861367026) - 1300131002 -> 406208005 (363714003) View

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

Relationship (15861368020) - 1300131002 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
2
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

40700009 View

40700009
Severe intellectual disability (disorder)
Severe mental handicap
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

224958001 View

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

271794005 View

271794005
Disorder of sleep-wake cycle (disorder)
Circadian dysregulation
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True
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