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Terminology chevron_right Concepts chevron_right 773984007

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773984007
The component that hold information about this concept.
Piebald trait with neurologic defects syndrome (disorder)
Telfer sugar jaeger 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

Piebald trait with neurologic defects syndrome (disorder)

SCTID: 773984007, Primitive, Active


773984007|Piebald trait with neurologic defects syndrome (disorder)|
  • en Piebald trait with neurologic defects syndrome
  • en Piebald trait with neurologic defects syndrome (disorder)
  • en Telfer sugar jaeger syndrome

773984007 |Piebald trait with neurologic defects syndrome (disorder)|

<<< 1362108000 |Genetic intellectual disability (disorder)| +
    11164009 |Autosomal dominant hereditary disorder (disorder)| +
    724839001 |Genetic disorder of skin pigmentation (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    363185004 |Hereditary disorder of the integument (disorder)| +
    1953005 |Congenital deficiency of pigment of skin (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 89031001 |Hypopigmentation (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 39937001 |Skin 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)| }
Active

3727467015 - Piebald trait with neurologic defects syndrome (en) View

3727467015
en
Synonym (core metadata concept)
Piebald trait with neurologic defects syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3727468013 - Piebald trait with neurologic defects syndrome (disorder) (en) View

3727468013
en
Fully specified name (core metadata concept)
Piebald trait with neurologic defects syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3727469017 - Telfer Sugar Jaeger syndrome (en) View

3727469017
en
Synonym (core metadata concept)
Telfer Sugar Jaeger syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (10624755020) - 773984007 -> 110359009 (116680003) View

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

Relationship (16316664028) - 773984007 -> 1362108000 (116680003) View

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

Relationship (15392705020) - 773984007 -> 363185004 (116680003) View

116680003 |Is a (attribute)|
363185004 |Hereditary disorder of the integument (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15094828029) - 773984007 -> 247573007 (363714003) View

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

Relationship (15094829021) - 773984007 -> 260379002 (363713009) View

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

Relationship (15096193028) - 773984007 -> 406208005 (363714003) View

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

Relationship (15096194023) - 773984007 -> 260379002 (363713009) View

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

Relationship (13070021023) - 773984007 -> 363070008 (116680003) View

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

Relationship (10624752023) - 773984007 -> 1953005 (116680003) View

116680003 |Is a (attribute)|
1953005 |Congenital deficiency of pigment of skin (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10624753029) - 773984007 -> 11164009 (116680003) View

116680003 |Is a (attribute)|
11164009 |Autosomal dominant hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10624756021) - 773984007 -> 724839001 (116680003) View

116680003 |Is a (attribute)|
724839001 |Genetic disorder of skin pigmentation (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10624757028) - 773984007 -> 308490002 (370135005) View

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

Relationship (10624758022) - 773984007 -> 255399007 (246454002) View

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

Relationship (10624759025) - 773984007 -> 39937001 (363698007) View

363698007 |Finding site (attribute)|
39937001 |Skin structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11183808022) - 773984007 -> 89031001 (116676008) View

116676008 |Associated morphology (attribute)|
89031001 |Hypopigmentation (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (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

724839001 View

724839001
Genetic disorder of skin pigmentation (disorder)
Genetic disorder of skin pigmentation
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

1953005 View

1953005
Congenital deficiency of pigment of skin (disorder)
Congenital deficiency of pigment of skin
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

11164009 View

11164009
Autosomal dominant hereditary disorder (disorder)
Ad - autosomal dominant
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

363185004 View

363185004
Hereditary disorder of the integument (disorder)
Hereditary disorder of the integument
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (2d653f65-6cd9-5cbb-b9e3-8e6c4920982f) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E70.3
TRUE
ALWAYS E70.3 | 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 (52c3da65-b536-55aa-b5c5-ba278601315b) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q82.8
TRUE
ALWAYS Q82.8 | 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)|
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