Familial erythrocytosis due to diphosphoglycerate mutase deficiency   127065001

SNOMED CT code


SNOMED code127065001
nameFamilial erythrocytosis due to diphosphoglycerate mutase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Familial erythrocytosis due to diphosphoglycerate mutase deficiency (disorder)
synonymsFamilial erythrocytosis due to diphosphoglycerate mutase deficiency
attributes - group2
Due toDeficiency of bisphosphoglycerate mutase   124678007
attributes - group3
Finding siteErythrocyte   41898006
attributes - group1
InterpretsRed blood cell count   14089001
Has interpretationAbove reference range   281302008
attributes - group4
InterpretsHematology procedure   33468001
parents
  • Familial erythrocytosis   17342003
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Red blood cell disorder   38292009
          Hereditary red blood cell disorder   414394009
            Familial erythrocytosis   17342003
              Familial erythrocytosis due to diphosphoglycerate mutase deficiency   127065001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Familial erythrocytosis due to diphosphoglycerate mutase deficiency   127065001

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