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Terminology chevron_right Concepts chevron_right 1351332001

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1351332001
The component that hold information about this concept.
Autosomal recessive combined immunodeficiency due to dna polymerase delta 1 catalytic subunit mutation (disorder)
Autosomal recessive combined immunodeficiency due to pold1 mutation
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

Autosomal recessive combined immunodeficiency due to dna polymerase delta 1 catalytic subunit mutation (disorder)

SCTID: 1351332001, Primitive, Active


1351332001|Autosomal recessive combined immunodeficiency due to dna polymerase delta 1 catalytic subunit mutation (disorder)|
  • en Autosomal recessive combined immunodeficiency due to dna polymerase delta 1 catalytic subunit mutation
  • en Autosomal recessive combined immunodeficiency due to dna polymerase delta 1 catalytic subunit mutation (disorder)
  • en Autosomal recessive combined immunodeficiency due to pold1 mutation

1351332001 |Autosomal recessive combined immunodeficiency due to dna polymerase delta 1 catalytic subunit mutation (disorder)|

<<< 442459007 |Combined immunodeficiency disease (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| :
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
Active

5406630014 - Autosomal recessive combined immunodeficiency due to DNA polymerase delta 1 catalytic subunit mutation (en) View

5406630014
en
Synonym (core metadata concept)
Autosomal recessive combined immunodeficiency due to DNA polymerase delta 1 catalytic subunit mutation
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

5406629016 - Autosomal recessive combined immunodeficiency due to DNA polymerase delta 1 catalytic subunit mutation (disorder) (en) View

5406629016
en
Fully specified name (core metadata concept)
Autosomal recessive combined immunodeficiency due to DNA polymerase delta 1 catalytic subunit mutation (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

5406631013 - Autosomal recessive combined immunodeficiency due to POLD1 mutation (en) View

5406631013
en
Synonym (core metadata concept)
Autosomal recessive combined immunodeficiency due to POLD1 mutation
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

442459007 View

442459007
Combined immunodeficiency disease (disorder)
Combined immunodeficiency disease
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 (7d90162b-9746-53c5-a42a-ee0f971ffb65) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
D81.8
TRUE
ALWAYS D81.8 | 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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