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Terminology chevron_right Concepts chevron_right 716747007

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716747007
The component that hold information about this concept.
Dicarboxylic aminoaciduria syndrome (disorder)
Dicarboxylic aminoaciduria syndrome
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

Dicarboxylic aminoaciduria syndrome (disorder)

SCTID: 716747007, Primitive, Active


716747007|Dicarboxylic aminoaciduria syndrome (disorder)|
  • en Dicarboxylic aminoaciduria syndrome
  • en Dicarboxylic aminoaciduria syndrome (disorder)
  • en Glutamate aspartate transport defect

716747007 |Dicarboxylic aminoaciduria syndrome (disorder)|

<<< 16784003 |Amino acid transport disorder (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    698953004 |Inherited aminoaciduria (disorder)| :
        { 363714003 |Interprets (attribute)| = 364687002 |Urine observable (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
          363714003 |Interprets (attribute)| = 442497007 |Measurement of amino acid in urine (procedure)| }
Active

3307415016 - Dicarboxylic aminoaciduria syndrome (en) View

3307415016
en
Synonym (core metadata concept)
Dicarboxylic aminoaciduria syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3307414017 - Dicarboxylic aminoaciduria syndrome (disorder) (en) View

3307414017
en
Fully specified name (core metadata concept)
Dicarboxylic aminoaciduria syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3307416015 - Glutamate aspartate transport defect (en) View

3307416015
en
Synonym (core metadata concept)
Glutamate aspartate transport defect
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

698953004 View

698953004
Inherited aminoaciduria (disorder)
Inherited aminoaciduria
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

16784003 View

16784003
Amino acid transport disorder (disorder)
Amino acid transport disorder
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

ExtendedMap object (c5b5ebc9-2bf6-54f3-a0eb-8f6ea0c9655d) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E72.0
TRUE
ALWAYS E72.0 | 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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