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Terminology chevron_right Concepts chevron_right 1296784002

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1296784002
The component that hold information about this concept.
Neuronal ceroid lipofuscinosis type 6a (disorder)
Neuronal ceroid lipofuscinosis type 6a
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

Neuronal ceroid lipofuscinosis type 6a (disorder)

SCTID: 1296784002, Primitive, Active


1296784002|Neuronal ceroid lipofuscinosis type 6a (disorder)|
  • en Cln6-related neuronal ceroid lipofuscinosis type 6a
  • en Cln6 transmembrane er protein-related neuronal ceroid lipofuscinosis type 6a
  • en Neuronal ceroid lipofuscinosis type 6a
  • en Neuronal ceroid lipofuscinosis type 6a (disorder)
  • en Vlincl - variant late infantile neuronal ceroid lipofuscinosis

1296784002 |Neuronal ceroid lipofuscinosis type 6a (disorder)|

<<< 58258004 |Infantile neuronal ceroid lipofuscinosis (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

5287022018 - CLN6-related neuronal ceroid lipofuscinosis type 6A (en) View

5287022018
en
Synonym (core metadata concept)
CLN6-related neuronal ceroid lipofuscinosis type 6A
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

5287025016 - CLN6 transmembrane ER protein-related neuronal ceroid lipofuscinosis type 6A (en) View

5287025016
en
Synonym (core metadata concept)
CLN6 transmembrane ER protein-related neuronal ceroid lipofuscinosis type 6A
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

5287298016 - Neuronal ceroid lipofuscinosis type 6A (en) View

5287298016
en
Synonym (core metadata concept)
Neuronal ceroid lipofuscinosis type 6A
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

5287024017 - Neuronal ceroid lipofuscinosis type 6A (disorder) (en) View

5287024017
en
Fully specified name (core metadata concept)
Neuronal ceroid lipofuscinosis type 6A (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

5287299012 - vLINCL - variant late infantile neuronal ceroid lipofuscinosis (en) View

5287299012
en
Synonym (core metadata concept)
vLINCL - variant late infantile neuronal ceroid lipofuscinosis
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

58258004 View

58258004
Infantile neuronal ceroid lipofuscinosis (disorder)
Santavuori disease
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 (42b1b698-e7f5-578b-81eb-975d96dbc269) View

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