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Terminology chevron_right Concepts chevron_right 819953000

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819953000
The component that hold information about this concept.
Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
Glycogenosis type 9d
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

Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)

SCTID: 819953000, Primitive, Active


819953000|Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)|
  • vi Bệnh dự trữ glycogen do thiếu hụt phosphorylase kinase ở cơ
  • en Glycogenosis type 9d
  • en Glycogen storage disease due to muscle phosphorylase kinase deficiency
  • en Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
  • en Glycogen storage disease type 9d
  • en Glycogen storage disease type ixd

819953000 |Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)|

<<< 235908005 |Glycogen phosphorylase kinase deficiency (disorder)| +
    1162976004 |X-linked recessive hereditary disease (disorder)| :
        { 363698007 |Finding site (attribute)| = 10200004 |Liver structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

452351000003116 - bệnh dự trữ glycogen do thiếu hụt phosphorylase kinase ở cơ (vi) View

452351000003116
vi
Synonym (core metadata concept)
bệnh dự trữ glycogen do thiếu hụt phosphorylase kinase ở cơ
900000000000448009 |Entire term case insensitive (core metadata concept)|
None
True

3858292015 - Glycogenosis type 9D (en) View

3858292015
en
Synonym (core metadata concept)
Glycogenosis type 9D
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3858289019 - Glycogen storage disease due to muscle phosphorylase kinase deficiency (en) View

3858289019
en
Synonym (core metadata concept)
Glycogen storage disease due to muscle phosphorylase kinase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3858288010 - Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) (en) View

3858288010
en
Fully specified name (core metadata concept)
Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3858290011 - Glycogen storage disease type 9D (en) View

3858290011
en
Synonym (core metadata concept)
Glycogen storage disease type 9D
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3858291010 - Glycogen storage disease type IXd (en) View

3858291010
en
Synonym (core metadata concept)
Glycogen storage disease type IXd
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

1162976004 View

1162976004
X-linked recessive hereditary disease (disorder)
X-linked recessive hereditary disease
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

235908005 View

235908005
Glycogen phosphorylase kinase deficiency (disorder)
Glycogenosis viiia
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (addb0709-7ed3-5c06-8126-f27d19f7ddd4) 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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