Congenital neutropenia   89655007

SNOMED CT code


SNOMED code89655007
nameCongenital neutropenia
statusactive
date introduced2002-01-31
fully specified name(s)Congenital neutropenia (disorder)
synonyms
  • Congenital neutropenia
  • Severe infantile genetic neutropenia
  • Primary neutropenia
  • Severe congenital neutropenia
attributes - group3
Pathological processAbnormal immune process   769247005
attributes - group1
Has interpretationBelow reference range   281300000
InterpretsNeutrophil count   30630007
attributes - group2
OccurrenceCongenital   255399007
parents
children
  • Autosomal dominant severe congenital neutropenia   770947009
  • Autosomal recessive severe congenital neutropenia due to CSF3R deficiency   783201001
  • Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency   783200000
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency   783058007
  • Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency   783199003
  • Congenital agranulocytosis NEC   234415003  removed: 2010-01-31
  • Congenital neutropenia, myelofibrosis, nephromegaly syndrome   775909002
  • Kostmann syndrome   770942003
  • Neutropenia, monocytopenia, deafness syndrome   725137007
  • Onycho-tricho-dysplasia neutropenia syndrome   1003381002
  • Reticular dysgenesis   111584000
  • Severe combined immunodeficiency with reticular dysgenesis   190996002
  • Shwachman syndrome   89454001
  • Warts, hypogammaglobulinemia, infections, and myelokathexis   234571003
  • X-linked dyserythropoietic anemia with abnormal platelets and neutropenia   782759001
  • X-linked severe congenital neutropenia   718882006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of blood, lymphatics and immune system   299691001
      Disorder of cellular component of blood   414022008
        White blood cell disorder   54097007
          Leukopenia   84828003
            Neutropenic disorder   303011007
              Congenital neutropenia   89655007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Congenital neutropenia   89655007

ancestors
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