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Terminology chevron_right Concepts chevron_right 783058007

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783058007
The component that hold information about this concept.
Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)
Severe congenital neutropenia type 4
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 severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)

SCTID: 783058007, Primitive, Active


783058007|Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)|
  • en Autosomal recessive severe congenital neutropenia due to g6pc3 deficiency
  • en Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
  • en Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)
  • en Severe congenital neutropenia, pulmonary hypertension, superficial venous angiectasis syndrome
  • en Severe congenital neutropenia type 4

783058007 |Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)|

<<< 85995004 |Autosomal recessive hereditary disorder (disorder)| +
    89655007 |Congenital neutropenia (disorder)| :
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
          363714003 |Interprets (attribute)| = 30630007 |Neutrophil count (procedure)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
Active

3757273015 - Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (en) View

3757273015
en
Synonym (core metadata concept)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3757270017 - Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (en) View

3757270017
en
Synonym (core metadata concept)
Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3757272013 - Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder) (en) View

3757272013
en
Fully specified name (core metadata concept)
Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3757276011 - Severe congenital neutropenia, pulmonary hypertension, superficial venous angiectasis syndrome (en) View

3757276011
en
Synonym (core metadata concept)
Severe congenital neutropenia, pulmonary hypertension, superficial venous angiectasis syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3757274014 - Severe congenital neutropenia type 4 (en) View

3757274014
en
Synonym (core metadata concept)
Severe congenital neutropenia type 4
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
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

89655007 View

89655007
Congenital neutropenia (disorder)
Kostmann's syndrome
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (6880221f-423a-53d9-a731-b57a1dbab5cb) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
D70
TRUE
ALWAYS D70 | 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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