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Terminology chevron_right Concepts chevron_right 1351802001

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1351802001
The component that hold information about this concept.
Autosomal recessive combined immunodeficiency due to inositol-trisphosphate 3-kinase b mutation (disorder)
Autosomal recessive combined immunodeficiency due to itpkb 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 inositol-trisphosphate 3-kinase b mutation (disorder)

SCTID: 1351802001, Primitive, Active


1351802001|Autosomal recessive combined immunodeficiency due to inositol-trisphosphate 3-kinase b mutation (disorder)|
  • en Autosomal recessive combined immunodeficiency due to inositol-trisphosphate 3-kinase b mutation
  • en Autosomal recessive combined immunodeficiency due to inositol-trisphosphate 3-kinase b mutation (disorder)
  • en Autosomal recessive combined immunodeficiency due to itpkb deficiency
  • en Autosomal recessive combined immunodeficiency due to itpkb mutation

1351802001 |Autosomal recessive combined immunodeficiency due to inositol-trisphosphate 3-kinase b mutation (disorder)|

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

5415168011 - Autosomal recessive combined immunodeficiency due to inositol-trisphosphate 3-kinase B mutation (en) View

5415168011
en
Synonym (core metadata concept)
Autosomal recessive combined immunodeficiency due to inositol-trisphosphate 3-kinase B mutation
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

5415171015 - Autosomal recessive combined immunodeficiency due to inositol-trisphosphate 3-kinase B mutation (disorder) (en) View

5415171015
en
Fully specified name (core metadata concept)
Autosomal recessive combined immunodeficiency due to inositol-trisphosphate 3-kinase B mutation (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

5415170019 - Autosomal recessive combined immunodeficiency due to ITPKB deficiency (en) View

5415170019
en
Synonym (core metadata concept)
Autosomal recessive combined immunodeficiency due to ITPKB deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

5415169015 - Autosomal recessive combined immunodeficiency due to ITPKB mutation (en) View

5415169015
en
Synonym (core metadata concept)
Autosomal recessive combined immunodeficiency due to ITPKB 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 (217e8f27-e145-5485-a31f-c7228671f4de) 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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