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Terminology chevron_right Concepts chevron_right 783199003

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783199003
The component that hold information about this concept.
Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency (disorder)
Autosomal recessive severe congenital neutropenia due to jagn1 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 severe congenital neutropenia due to jagunal homolog 1 deficiency (disorder)

SCTID: 783199003, Primitive, Active


783199003|Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency (disorder)|
  • en Autosomal recessive severe congenital neutropenia due to jagn1 deficiency
  • en Autosomal recessive severe congenital neutropenia due to jagn1 (jagunal homolog 1) deficiency
  • en Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency
  • en Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency (disorder)

783199003 |Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 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

3758060011 - Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency (en) View

3758060011
en
Synonym (core metadata concept)
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3758058014 - Autosomal recessive severe congenital neutropenia due to JAGN1 (jagunal homolog 1) deficiency (en) View

3758058014
en
Synonym (core metadata concept)
Autosomal recessive severe congenital neutropenia due to JAGN1 (jagunal homolog 1) deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3758059018 - Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency (en) View

3758059018
en
Synonym (core metadata concept)
Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3758061010 - Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency (disorder) (en) View

3758061010
en
Fully specified name (core metadata concept)
Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
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 (7ee67aff-8716-5794-a817-c6eb76c1e7f2) 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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