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Terminology chevron_right Concepts chevron_right 709282004

Production
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709282004
The component that hold information about this concept.
Deficiency of aminoacylase 1 (disorder)
Aminoacylase 1 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

Deficiency of aminoacylase 1 (disorder)

SCTID: 709282004, Primitive, Active


709282004|Deficiency of aminoacylase 1 (disorder)|
  • en Aminoacylase 1 deficiency
  • en Deficiency of aminoacylase 1
  • en Deficiency of aminoacylase 1 (disorder)

709282004 |Deficiency of aminoacylase 1 (disorder)|

<<< 85995004 |Autosomal recessive hereditary disorder (disorder)| +
    129456006 |Specific enzyme deficiency (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

3039263012 - Aminoacylase 1 deficiency (en) View

3039263012
en
Synonym (core metadata concept)
Aminoacylase 1 deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3039364015 - Deficiency of aminoacylase 1 (en) View

3039364015
en
Synonym (core metadata concept)
Deficiency of aminoacylase 1
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3039345014 - Deficiency of aminoacylase 1 (disorder) (en) View

3039345014
en
Fully specified name (core metadata concept)
Deficiency of aminoacylase 1 (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (16277839023) - 709282004 -> 364687002 (363714003) View

363714003 |Interprets (attribute)|
364687002 |Urine observable (observable entity)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16284925021) - 709282004 -> 442497007 (363714003) View

363714003 |Interprets (attribute)|
442497007 |Measurement of amino acid in urine (procedure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16284926022) - 709282004 -> 281302008 (363713009) View

363713009 |Has interpretation (attribute)|
281302008 |Above reference range (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6031135020) - 709282004 -> 35912001 (363705008) View

363705008 |Has definitional manifestation (attribute)|
35912001 |Aminoaciduria (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (9215716027) - 709282004 -> 698953004 (116680003) View

116680003 |Is a (attribute)|
698953004 |Inherited aminoaciduria (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6031134024) - 709282004 -> 85995004 (116680003) View

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

Relationship (6031789027) - 709282004 -> 129456006 (116680003) View

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

698953004 View

698953004
Inherited aminoaciduria (disorder)
Inherited aminoaciduria
900000000000073002 |Sufficiently defined by necessary conditions 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

129456006 View

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

ExtendedMap object (a5ce56a5-6086-54ba-808e-4485054501bc) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E72.8
TRUE
ALWAYS E72.8
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