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Terminology chevron_right Concepts chevron_right 725026008

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725026008
The component that hold information about this concept.
Hepatic glycogen synthase deficiency (disorder)
Glycogenosis type 0a
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

Hepatic glycogen synthase deficiency (disorder)

SCTID: 725026008, Primitive, Active


725026008|Hepatic glycogen synthase deficiency (disorder)|
  • vi Thiếu hụt glycogen synthase ở gan
  • en Glycogenosis type 0a
  • en Glycogen storage disease due to hepatic glycogen synthase deficiency
  • en Glycogen storage disease due to liver glycogen synthase deficiency
  • en Glycogen storage disease type 0a
  • en Hepatic glycogen synthase deficiency
  • en Hepatic glycogen synthase deficiency (disorder)

725026008 |Hepatic glycogen synthase deficiency (disorder)|

<<< 85995004 |Autosomal recessive hereditary disorder (disorder)| +
    237964009 |Glycogen synthase deficiency (disorder)|
        { 363698007 |Finding site (attribute)| = 10200004 |Liver structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

455561000003118 - thiếu hụt glycogen synthase ở gan (vi) View

455561000003118
vi
Synonym (core metadata concept)
thiếu hụt glycogen synthase ở gan
900000000000448009 |Entire term case insensitive (core metadata concept)|
None
True

3437637019 - Glycogenosis type 0a (en) View

3437637019
en
Synonym (core metadata concept)
Glycogenosis type 0a
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3437634014 - Glycogen storage disease due to hepatic glycogen synthase deficiency (en) View

3437634014
en
Synonym (core metadata concept)
Glycogen storage disease due to hepatic glycogen synthase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3437635010 - Glycogen storage disease due to liver glycogen synthase deficiency (en) View

3437635010
en
Synonym (core metadata concept)
Glycogen storage disease due to liver glycogen synthase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3437636011 - Glycogen storage disease type 0a (en) View

3437636011
en
Synonym (core metadata concept)
Glycogen storage disease type 0a
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3437633015 - Hepatic glycogen synthase deficiency (en) View

3437633015
en
Synonym (core metadata concept)
Hepatic glycogen synthase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3437632013 - Hepatic glycogen synthase deficiency (disorder) (en) View

3437632013
en
Fully specified name (core metadata concept)
Hepatic glycogen synthase deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
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

237964009 View

237964009
Glycogen synthase deficiency (disorder)
Thiếu hụt glycogen synthase
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (86b7ebb6-ea08-50e5-808a-d281c3e1d014) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E74.0
TRUE
ALWAYS E74.0 | 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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