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Terminology chevron_right Concepts chevron_right 1187616008

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1187616008
The component that hold information about this concept.
Deficiency of galactose mutarotase (disorder)
Galactosemia type 4
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

Deficiency of galactose mutarotase (disorder)

SCTID: 1187616008, Primitive, Active


1187616008|Deficiency of galactose mutarotase (disorder)|
  • en Deficiency of galactose mutarotase
  • en Deficiency of galactose mutarotase (disorder)
  • en Galactosaemia type 4
  • en Galactosemia type 4
  • en Galm (galactose mutarotase) deficiency

1187616008 |Deficiency of galactose mutarotase (disorder)|

<<< 190745006 |Galactosemia (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    86095007 |Inborn error of metabolism (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

4674373017 - Deficiency of galactose mutarotase (en) View

4674373017
en
Synonym (core metadata concept)
Deficiency of galactose mutarotase
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

4674374011 - Deficiency of galactose mutarotase (disorder) (en) View

4674374011
en
Fully specified name (core metadata concept)
Deficiency of galactose mutarotase (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

4674368011 - Galactosaemia type 4 (en) View

4674368011
en
Synonym (core metadata concept)
Galactosaemia type 4
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

4674367018 - Galactosemia type 4 (en) View

4674367018
en
Synonym (core metadata concept)
Galactosemia type 4
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

4674369015 - GALM (galactose mutarotase) deficiency (en) View

4674369015
en
Synonym (core metadata concept)
GALM (galactose mutarotase) deficiency
900000000000017005 |Entire term case sensitive (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

86095007 View

86095007
Inborn error of metabolism (disorder)
Inborn error of metabolism
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

190745006 View

190745006
Galactosemia (disorder)
Galactosemia
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (f6ccffbc-3c32-5e13-a732-ff28e879a11c) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E88.8
TRUE
ALWAYS E88.8 | 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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