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Terminology chevron_right Concepts chevron_right 41013004

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41013004
The component that hold information about this concept.
Argininosuccinate lyase deficiency (disorder)
Asl 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

Argininosuccinate lyase deficiency (disorder)

SCTID: 41013004, Primitive, Active


41013004|Argininosuccinate lyase deficiency (disorder)|
  • en Asl-gene related argininosuccinate lyase deficiency
  • en Argininosuccinate lyase deficiency
  • en Argininosuccinate lyase deficiency (disorder)
  • en Argininosuccinic aciduria
  • en Deficiency of argininosuccinate lyase
  • en Asal deficiency
  • en Asl deficiency

41013004 |Argininosuccinate lyase deficiency (disorder)|

<<< 36444000 |Disorder of the urea cycle metabolism (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    129456006 |Specific enzyme deficiency (disorder)| +
    86095007 |Inborn error of metabolism (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

5286199011 - ASL-gene related argininosuccinate lyase deficiency (en) View

5286199011
en
Synonym (core metadata concept)
ASL-gene related argininosuccinate lyase deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

68418017 - Argininosuccinate lyase deficiency (en) View

68418017
en
Synonym (core metadata concept)
Argininosuccinate lyase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

777754012 - Argininosuccinate lyase deficiency (disorder) (en) View

777754012
en
Fully specified name (core metadata concept)
Argininosuccinate lyase deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

68419013 - Argininosuccinic aciduria (en) View

68419013
en
Synonym (core metadata concept)
Argininosuccinic aciduria
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

2477785019 - Deficiency of argininosuccinate lyase (en) View

2477785019
en
Synonym (core metadata concept)
Deficiency of argininosuccinate lyase
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

68420019 - ASAL deficiency (en) View

68420019
en
Synonym (core metadata concept)
ASAL deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

68421015 - ASL deficiency (en) View

68421015
en
Synonym (core metadata concept)
ASL deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (774427028) - 41013004 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (2691862026) - 41013004 -> 86095007 (116680003) View

116680003 |Is a (attribute)|
86095007 |Inborn error of metabolism (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (214905022) - 41013004 -> 78548001 (116680003) View

116680003 |Is a (attribute)|
78548001 |Enzymopathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (774426021) - 41013004 -> 91689009 (363698007) View

363698007 |Finding site (attribute)|
91689009 |Body system structure (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (2546971021) - 41013004 -> 129456006 (116680003) View

116680003 |Is a (attribute)|
129456006 |Specific enzyme deficiency (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (214906023) - 41013004 -> 36444000 (116680003) View

116680003 |Is a (attribute)|
36444000 |Disorder of the urea cycle metabolism (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (214907025) - 41013004 -> 85995004 (116680003) View

116680003 |Is a (attribute)|
85995004 |Autosomal recessive hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

36444000 View

36444000
Disorder of the urea cycle metabolism (disorder)
Disorder of urea cycle
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 (db094c9a-c09c-57fd-b5b6-967196cb7790) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E72.2
TRUE
ALWAYS E72.2
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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