Pancytopenia due to IKZF1 mutations   783142006

SNOMED CT code


SNOMED code783142006
namePancytopenia due to IKZF1 mutations
statusactive
date introduced2019-07-31
fully specified name(s)Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder)
synonyms
  • Pancytopenia due to IKZF1 mutations
  • Combined immunodeficiency due to IKAROS deficiency
  • Pancytopenia due to IKAROS family zinc finger 1 mutations
attributes - group2
InterpretsMeasurement of total hemoglobin concentration   441689006
Has interpretationBelow reference range   281300000
attributes - group1
Has interpretationBelow reference range   281300000
InterpretsRed blood cell count   14089001
attributes - group3
Has interpretationBelow reference range   281300000
InterpretsPlatelet count   61928009
attributes - group4
Has interpretationBelow reference range   281300000
InterpretsWhite blood cell count   767002
attributes - group5
Pathological processAbnormal immune process   769247005
attributes - group6
InterpretsHemostatic function   74848003
Has interpretationAbnormal   263654008
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Pancytopenia due to IKZF1 mutations   783142006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of blood, lymphatics and immune system   299691001
      Disorder of cellular component of blood   414022008
        Anemia   271737000
          Pancytopenia   127034005
            Pancytopenia due to IKZF1 mutations   783142006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of immune function   414029004
        Immunodeficiency disorder   234532001
          Primary immune deficiency disorder   58606001
            Combined immunodeficiency disease   442459007
              Pancytopenia due to IKZF1 mutations   783142006

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