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Terminology chevron_right Concepts chevron_right 1354597009

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1354597009
The component that hold information about this concept.
Autosomal recessive deoxyribonucleic acid repair defect due to dna polymerase epsilon 2, accessory subunit deficiency (disorder)
Autosomal recessive dna repair defect due to pole2 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

Autosomal recessive deoxyribonucleic acid repair defect due to dna polymerase epsilon 2, accessory subunit deficiency (disorder)

SCTID: 1354597009, Primitive, Active


1354597009|Autosomal recessive deoxyribonucleic acid repair defect due to dna polymerase epsilon 2, accessory subunit deficiency (disorder)|
  • en Autosomal recessive deoxyribonucleic acid repair defect due to dna polymerase epsilon 2, accessory subunit deficiency
  • en Autosomal recessive deoxyribonucleic acid repair defect due to dna polymerase epsilon 2, accessory subunit deficiency (disorder)
  • en Autosomal recessive dna repair defect due to pole2 deficiency
  • en Autosomal recessive dna repair defect due to polymerase-epsilon subunit 2 deficiency

1354597009 |Autosomal recessive deoxyribonucleic acid repair defect due to dna polymerase epsilon 2, accessory subunit deficiency (disorder)|

<<< 28965003 |Deficiency of deoxyribonucleic acid repair (finding)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    442459007 |Combined immunodeficiency disease (disorder)| :
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 386053000 |Evaluation procedure (procedure)| }
Active

5422916014 - Autosomal recessive deoxyribonucleic acid repair defect due to DNA polymerase epsilon 2, accessory subunit deficiency (en) View

5422916014
en
Synonym (core metadata concept)
Autosomal recessive deoxyribonucleic acid repair defect due to DNA polymerase epsilon 2, accessory subunit deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

5422910015 - Autosomal recessive deoxyribonucleic acid repair defect due to DNA polymerase epsilon 2, accessory subunit deficiency (disorder) (en) View

5422910015
en
Fully specified name (core metadata concept)
Autosomal recessive deoxyribonucleic acid repair defect due to DNA polymerase epsilon 2, accessory subunit deficiency (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

5422911016 - Autosomal recessive DNA repair defect due to POLE2 deficiency (en) View

5422911016
en
Synonym (core metadata concept)
Autosomal recessive DNA repair defect due to POLE2 deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

5422915013 - Autosomal recessive DNA repair defect due to polymerase-epsilon subunit 2 deficiency (en) View

5422915013
en
Synonym (core metadata concept)
Autosomal recessive DNA repair defect due to polymerase-epsilon subunit 2 deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

442459007 View

442459007
Combined immunodeficiency disease (disorder)
Combined immunodeficiency disease
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

28965003 View

28965003
Deficiency of deoxyribonucleic acid repair (finding)
Deficiency of dna repair
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 (f9c83c8c-6ed5-5ba9-8c7a-66ffd4cc7b5a) View

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