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Terminology chevron_right Concepts chevron_right 14637005

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14637005
The component that hold information about this concept.
Late-infantile neuronal ceroid lipofuscinosis (disorder)
Bielschowsky-jansky disease
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

Late-infantile neuronal ceroid lipofuscinosis (disorder)

SCTID: 14637005, Primitive, Active


14637005|Late-infantile neuronal ceroid lipofuscinosis (disorder)|
  • en Amaurotic idiocy early juvenile type
  • en Amaurotic idiocy, early juvenile type
  • en Amaurotic idiocy late infantile type
  • en Amaurotic idiocy, late infantile type
  • en Late infantile neuronal ceroid lipofuscinosis
  • en Late-infantile neuronal ceroid lipofuscinosis
  • en Late-infantile neuronal ceroid lipofuscinosis (disorder)
  • en Bielschowsky-jansky disease
  • en Bielschowsky-jansky type neuronal ceroid lipofuscinosis
  • en Dollinger-bielschowsky syndrome
  • en Dollinger-bielschowsky type neuronal ceroid lipofuscinosis

14637005 |Late-infantile neuronal ceroid lipofuscinosis (disorder)|

<<< 58258004 |Infantile neuronal ceroid lipofuscinosis (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
Active

476485016 - Amaurotic idiocy early juvenile type (en) View

476485016
en
Synonym (core metadata concept)
Amaurotic idiocy early juvenile type
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

24864013 - Amaurotic idiocy, early juvenile type (en) View

24864013
en
Synonym (core metadata concept)
Amaurotic idiocy, early juvenile type
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

476486015 - Amaurotic idiocy late infantile type (en) View

476486015
en
Synonym (core metadata concept)
Amaurotic idiocy late infantile type
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

24865014 - Amaurotic idiocy, late infantile type (en) View

24865014
en
Synonym (core metadata concept)
Amaurotic idiocy, late infantile type
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

476487012 - Late infantile neuronal ceroid lipofuscinosis (en) View

476487012
en
Synonym (core metadata concept)
Late infantile neuronal ceroid lipofuscinosis
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

24862012 - Late-infantile neuronal ceroid lipofuscinosis (en) View

24862012
en
Synonym (core metadata concept)
Late-infantile neuronal ceroid lipofuscinosis
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

740827011 - Late-infantile neuronal ceroid lipofuscinosis (disorder) (en) View

740827011
en
Fully specified name (core metadata concept)
Late-infantile neuronal ceroid lipofuscinosis (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

24863019 - Bielschowsky-Jansky disease (en) View

24863019
en
Synonym (core metadata concept)
Bielschowsky-Jansky disease
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

476484017 - Bielschowsky-Jansky type neuronal ceroid lipofuscinosis (en) View

476484017
en
Synonym (core metadata concept)
Bielschowsky-Jansky type neuronal ceroid lipofuscinosis
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

24866010 - Dollinger-Bielschowsky syndrome (en) View

24866010
en
Synonym (core metadata concept)
Dollinger-Bielschowsky syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

476483011 - Dollinger-Bielschowsky type neuronal ceroid lipofuscinosis (en) View

476483011
en
Synonym (core metadata concept)
Dollinger-Bielschowsky type neuronal ceroid lipofuscinosis
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (704912026) - 14637005 -> 33359002 (116676008) View

116676008 |Associated morphology (attribute)|
33359002 |Degeneration (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (12057498025) - 14637005 -> 107669003 (116676008) View

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

Relationship (704911022) - 14637005 -> 25087005 (363698007) View

363698007 |Finding site (attribute)|
25087005 |Structure of nervous system (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (704913020) - 14637005 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (704914025) - 14637005 -> 4720007 (116676008) View

116676008 |Associated morphology (attribute)|
4720007 |Dystrophy (morphologic abnormality)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (169255020) - 14637005 -> 58258004 (116680003) View

116680003 |Is a (attribute)|
58258004 |Infantile neuronal ceroid lipofuscinosis (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

58258004 View

58258004
Infantile neuronal ceroid lipofuscinosis (disorder)
Santavuori disease
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (1459718e-6b2d-5298-82b8-6730cfd05dd8) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E75.4
TRUE
ALWAYS E75.4
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