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Terminology chevron_right Concepts chevron_right 124628005

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124628005
The component that hold information about this concept.
Deficiency of histidine ammonia-lyase (disorder)
Deficiency of histidase
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 histidine ammonia-lyase (disorder)

SCTID: 124628005, Primitive, Active


124628005|Deficiency of histidine ammonia-lyase (disorder)|
  • en Deficiency of histidase
  • en Deficiency of histidinase
  • en Deficiency of histidine a-deaminase
  • en Deficiency of histidine ammonia-lyase
  • en Deficiency of histidine ammonia-lyase (disorder)

124628005 |Deficiency of histidine ammonia-lyase (disorder)|

<<< 129456006 |Specific enzyme deficiency (disorder)| +
    44176004 |Disorder of histidine metabolism (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    86095007 |Inborn error of metabolism (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

204814013 - Deficiency of histidase (en) View

204814013
en
Synonym (core metadata concept)
Deficiency of histidase
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

204813019 - Deficiency of histidinase (en) View

204813019
en
Synonym (core metadata concept)
Deficiency of histidinase
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

204812012 - Deficiency of histidine a-deaminase (en) View

204812012
en
Synonym (core metadata concept)
Deficiency of histidine a-deaminase
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

204815014 - Deficiency of histidine ammonia-lyase (en) View

204815014
en
Synonym (core metadata concept)
Deficiency of histidine ammonia-lyase
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

728346012 - Deficiency of histidine ammonia-lyase (disorder) (en) View

728346012
en
Fully specified name (core metadata concept)
Deficiency of histidine ammonia-lyase (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
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

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

129456006 View

129456006
Specific enzyme deficiency (disorder)
Specific enzyme deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (66f29c18-fed9-50a6-80bf-55ddaacf4184) 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