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Terminology chevron_right Concepts chevron_right 60952007

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60952007
The component that hold information about this concept.
Urocanate hydratase deficiency (disorder)
Urocanic aciduria
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

Urocanate hydratase deficiency (disorder)

SCTID: 60952007, Primitive, Active


60952007|Urocanate hydratase deficiency (disorder)|
  • en Urocanase deficiency
  • en Urocanate hydratase deficiency
  • en Urocanate hydratase deficiency (disorder)
  • en Urocanic aciduria

60952007 |Urocanate hydratase deficiency (disorder)|

<<< 85995004 |Autosomal recessive hereditary disorder (disorder)| +
    44176004 |Disorder of histidine metabolism (disorder)| +
    78548001 |Enzymopathy (disorder)| +
    86095007 |Inborn error of metabolism (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

101279016 - Urocanase deficiency (en) View

101279016
en
Synonym (core metadata concept)
Urocanase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

101277019 - Urocanate hydratase deficiency (en) View

101277019
en
Synonym (core metadata concept)
Urocanate hydratase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

799961018 - Urocanate hydratase deficiency (disorder) (en) View

799961018
en
Fully specified name (core metadata concept)
Urocanate hydratase deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

101278012 - Urocanic aciduria (en) View

101278012
en
Synonym (core metadata concept)
Urocanic aciduria
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

44176004 View

44176004
Disorder of histidine metabolism (disorder)
Disorder of histidine metabolism
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

78548001 View

78548001
Enzymopathy (disorder)
Enzymopathy
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
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

ExtendedMap object (7d5fd2b9-5818-56c1-8c7f-ad65680490fe) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E70.8
TRUE
ALWAYS E70.8
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