Loading...
dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 297252005

Production
add
297252005
The component that hold information about this concept.
Glycogen phosphorylase kinase deficiency, autosomal recessive (disorder)
Glycogen phosphorylase kinase deficiency, autosomal recessive
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 phosphorylase kinase deficiency, autosomal recessive (disorder)

SCTID: 297252005, Primitive, Active


297252005|Glycogen phosphorylase kinase deficiency, autosomal recessive (disorder)|
  • vi Thiếu hụt glycogen phosphorylase kinase, di truyền lặn trên nst thường
  • en Glycogen phosphorylase kinase deficiency, autosomal recessive
  • en Glycogen phosphorylase kinase deficiency, autosomal recessive (disorder)

297252005 |Glycogen phosphorylase kinase deficiency, autosomal recessive (disorder)|

<<< 235908005 |Glycogen phosphorylase kinase deficiency (disorder)| :
        { 363698007 |Finding site (attribute)| = 10200004 |Liver structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

478741000003115 - thiếu hụt glycogen phosphorylase kinase, di truyền lặn trên NST thường (vi) View

478741000003115
vi
Synonym (core metadata concept)
thiếu hụt glycogen phosphorylase kinase, di truyền lặn trên NST thường
900000000000448009 |Entire term case insensitive (core metadata concept)|
None
True

437741015 - Glycogen phosphorylase kinase deficiency, autosomal recessive (en) View

437741015
en
Synonym (core metadata concept)
Glycogen phosphorylase kinase deficiency, autosomal recessive
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

692563010 - Glycogen phosphorylase kinase deficiency, autosomal recessive (disorder) (en) View

692563010
en
Fully specified name (core metadata concept)
Glycogen phosphorylase kinase deficiency, autosomal recessive (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (649621026) - 297252005 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6888361025) - 297252005 -> 255399007 (246454002) View

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

Relationship (6888362021) - 297252005 -> 10200004 (363698007) View

363698007 |Finding site (attribute)|
10200004 |Liver structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (2480735027) - 297252005 -> 91689009 (363698007) View

363698007 |Finding site (attribute)|
91689009 |Body system structure (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (649619020) - 297252005 -> 127954009 (363698007) View

363698007 |Finding site (attribute)|
127954009 |Skeletal muscle structure (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (649620025) - 297252005 -> 10200004 (363698007) View

363698007 |Finding site (attribute)|
10200004 |Liver structure (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (120760026) - 297252005 -> 235908005 (116680003) View

116680003 |Is a (attribute)|
235908005 |Glycogen phosphorylase kinase deficiency (disorder)|
0
900000000000011006 |Inferred relationship (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

297253000 View

297253000
Cardiac glycogen phosphorylase kinase deficiency (disorder)
Thiếu hụt glycogen phosphorylase kinase ở tim
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

297254006 View

297254006
Hepatic and muscle glycogen phosphorylase kinase deficiency (disorder)
Thiếu hụt glycogen phosphorylase kinase ở gan và cơ
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

297255007 View

297255007
Hepatic glycogen phosphorylase kinase deficiency (disorder)
Thiếu hụt glycogen phosphorylase kinase ở gan
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (24a3da2b-c696-56cb-bbe5-b53669630e31) View

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