Loading...
dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 783201001

Production
add
783201001
The component that hold information about this concept.
Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder)
Autosomal recessive severe congenital neutropenia due to csf3r 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 colony stimulating factor 3 receptor deficiency (disorder)

SCTID: 783201001, Primitive, Active


783201001|Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder)|
  • en Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
  • en Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder)
  • en Autosomal recessive severe congenital neutropenia due to csf3r (colony stimulating factor 3 receptor) deficiency
  • en Autosomal recessive severe congenital neutropenia due to csf3r deficiency

783201001 |Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor 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

3758072017 - Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (en) View

3758072017
en
Synonym (core metadata concept)
Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3758073010 - Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder) (en) View

3758073010
en
Fully specified name (core metadata concept)
Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3758070013 - Autosomal recessive severe congenital neutropenia due to CSF3R (colony stimulating factor 3 receptor) deficiency (en) View

3758070013
en
Synonym (core metadata concept)
Autosomal recessive severe congenital neutropenia due to CSF3R (colony stimulating factor 3 receptor) deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3758071012 - Autosomal recessive severe congenital neutropenia due to CSF3R deficiency (en) View

3758071012
en
Synonym (core metadata concept)
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
900000000000020002 |Only initial character 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 (14b14a4c-6020-5231-9e8d-7d259898c058) View

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