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Terminology chevron_right Concepts chevron_right 720978005

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720978005
The component that hold information about this concept.
Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder)
Mannosyltransferase 7-9 deficiency
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

Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder)

SCTID: 720978005, Primitive, Active


720978005|Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder)|
  • en Asparagine-linked glycosylation 9 congenital disorder of glycosylation
  • en Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder)
  • en Mannosyltransferase 7-9 deficiency
  • en Alg9-cdg - asparagine-linked glycosylation 9 congenital disorder of glycosylation
  • en Alg9 congenital disorder of glycosylation
  • en Carbohydrate deficient glycoprotein syndrome type il
  • en Congenital disorder of glycosylation type 1l
  • en Congenital disorder of glycosylation type il

720978005 |Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder)|

<<< 85995004 |Autosomal recessive hereditary disorder (disorder)| +
    277893002 |Carbohydrate-deficient glycoprotein syndrome type i (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

3322742015 - Asparagine-linked glycosylation 9 congenital disorder of glycosylation (en) View

3322742015
en
Synonym (core metadata concept)
Asparagine-linked glycosylation 9 congenital disorder of glycosylation
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3322741010 - Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder) (en) View

3322741010
en
Fully specified name (core metadata concept)
Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3322747014 - Mannosyltransferase 7-9 deficiency (en) View

3322747014
en
Synonym (core metadata concept)
Mannosyltransferase 7-9 deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3322748016 - ALG9-CDG - asparagine-linked glycosylation 9 congenital disorder of glycosylation (en) View

3322748016
en
Synonym (core metadata concept)
ALG9-CDG - asparagine-linked glycosylation 9 congenital disorder of glycosylation
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3322743013 - ALG9 congenital disorder of glycosylation (en) View

3322743013
en
Synonym (core metadata concept)
ALG9 congenital disorder of glycosylation
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

3322744019 - Carbohydrate deficient glycoprotein syndrome type IL (en) View

3322744019
en
Synonym (core metadata concept)
Carbohydrate deficient glycoprotein syndrome type IL
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3322745018 - Congenital disorder of glycosylation type 1L (en) View

3322745018
en
Synonym (core metadata concept)
Congenital disorder of glycosylation type 1L
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3322746017 - Congenital disorder of glycosylation type IL (en) View

3322746017
en
Synonym (core metadata concept)
Congenital disorder of glycosylation type IL
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
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

277893002 View

277893002
Carbohydrate-deficient glycoprotein syndrome type i (disorder)
Carbohydrate-deficient glycoprotein syndrome type i
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (fffd5716-f600-584b-8673-0e0852470e04) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E77.8
TRUE
ALWAYS E77.8 | 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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