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Terminology chevron_right Concepts chevron_right 770942003

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770942003
The component that hold information about this concept.
Kostmann syndrome (disorder)
Kostmann syndrome
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

Kostmann syndrome (disorder)

SCTID: 770942003, Primitive, Active


770942003|Kostmann syndrome (disorder)|
  • en Infantile agranulocytosis
  • en Infantile genetic agranulocytosis
  • en Kostmann syndrome
  • en Kostmann syndrome (disorder)
  • en Severe congenital neutropaenia type 3
  • en Severe congenital neutropenia type 3

770942003 |Kostmann syndrome (disorder)|

<<< 699346009 |Hereditary cancer-predisposing syndrome (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

5014348019 - Infantile agranulocytosis (en) View

5014348019
en
Synonym (core metadata concept)
Infantile agranulocytosis
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

5014349010 - Infantile genetic agranulocytosis (en) View

5014349010
en
Synonym (core metadata concept)
Infantile genetic agranulocytosis
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3703546013 - Kostmann syndrome (en) View

3703546013
en
Synonym (core metadata concept)
Kostmann syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

3703545012 - Kostmann syndrome (disorder) (en) View

3703545012
en
Fully specified name (core metadata concept)
Kostmann syndrome (disorder)
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

3703547016 - Severe congenital neutropaenia type 3 (en) View

3703547016
en
Synonym (core metadata concept)
Severe congenital neutropaenia type 3
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3703544011 - Severe congenital neutropenia type 3 (en) View

3703544011
en
Synonym (core metadata concept)
Severe congenital neutropenia type 3
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

Relationship (9657808024) - 770942003 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11170751023) - 770942003 -> 769247005 (370135005) View

370135005 |Pathological process (attribute)|
769247005 |Abnormal immune process (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9657805022) - 770942003 -> 89655007 (116680003) View

116680003 |Is a (attribute)|
89655007 |Congenital neutropenia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9657806023) - 770942003 -> 30630007 (363714003) View

363714003 |Interprets (attribute)|
30630007 |Neutrophil count (procedure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9657807025) - 770942003 -> 85995004 (116680003) View

116680003 |Is a (attribute)|
85995004 |Autosomal recessive hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9657809027) - 770942003 -> 281300000 (363713009) View

363713009 |Has interpretation (attribute)|
281300000 |Below reference range (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10720179023) - 770942003 -> 699346009 (116680003) View

116680003 |Is a (attribute)|
699346009 |Hereditary cancer-predisposing syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

699346009 View

699346009
Hereditary cancer-predisposing syndrome (disorder)
Hereditary neoplastic syndrome
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

89655007 View

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

ExtendedMap object (cc3569a6-5cdf-581f-8104-27b9b8455636) 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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