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Terminology chevron_right Concepts chevron_right 723624008

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723624008
The component that hold information about this concept.
Solute carrier family 35 member a1 congenital disorder of glycosylation (disorder)
Cmp-sialic acid transporter 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

Solute carrier family 35 member a1 congenital disorder of glycosylation (disorder)

SCTID: 723624008, Primitive, Active


723624008|Solute carrier family 35 member a1 congenital disorder of glycosylation (disorder)|
  • en Congenital disorder of glycosylation type 2f
  • en Carbohydrate deficient glycoprotein syndrome type iif
  • en Cmp-sialic acid transporter deficiency
  • en Congenital disorder of glycosylation type iif
  • en Slc35a1 congenital disorder of glycosylation
  • en Slc35a1 (solute carrier family 35 member a1) congenital disorder of glycosylation
  • en Solute carrier family 35 member a1 congenital disorder of glycosylation
  • en Solute carrier family 35 member a1 congenital disorder of glycosylation (disorder)

723624008 |Solute carrier family 35 member a1 congenital disorder of glycosylation (disorder)|

<<< 85444005 |Disorder of pyrimidine metabolism (disorder)| +
    238049009 |Carbohydrate-deficient glycoprotein syndrome (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

3425318012 - Congenital disorder of glycosylation type 2f (en) View

3425318012
en
Synonym (core metadata concept)
Congenital disorder of glycosylation type 2f
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3425317019 - Carbohydrate deficient glycoprotein syndrome type IIf (en) View

3425317019
en
Synonym (core metadata concept)
Carbohydrate deficient glycoprotein syndrome type IIf
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3425316011 - CMP-sialic acid transporter deficiency (en) View

3425316011
en
Synonym (core metadata concept)
CMP-sialic acid transporter deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3425319016 - Congenital disorder of glycosylation type IIf (en) View

3425319016
en
Synonym (core metadata concept)
Congenital disorder of glycosylation type IIf
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3425315010 - SLC35A1 congenital disorder of glycosylation (en) View

3425315010
en
Synonym (core metadata concept)
SLC35A1 congenital disorder of glycosylation
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

3425322019 - SLC35A1 (solute carrier family 35 member A1) congenital disorder of glycosylation (en) View

3425322019
en
Synonym (core metadata concept)
SLC35A1 (solute carrier family 35 member A1) congenital disorder of glycosylation
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3425314014 - Solute carrier family 35 member A1 congenital disorder of glycosylation (en) View

3425314014
en
Synonym (core metadata concept)
Solute carrier family 35 member A1 congenital disorder of glycosylation
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3425313015 - Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder) (en) View

3425313015
en
Fully specified name (core metadata concept)
Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

85444005 View

85444005
Disorder of pyrimidine metabolism (disorder)
Disorder of pyrimidine metabolism
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

238049009 View

238049009
Carbohydrate-deficient glycoprotein syndrome (disorder)
Congenital disorder of glycosylation
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (8d26b5fc-8ed2-526b-b9f6-167e7778d8ad) 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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