Hereditary elliptocytosis   191169008

SNOMED CT code


SNOMED code191169008
nameHereditary elliptocytosis
statusactive
date introduced2002-01-31
fully specified name(s)Hereditary elliptocytosis (disorder)
synonyms
  • Hereditary ovalocytosis
  • HE - Hereditary elliptocytosis
  • Hereditary elliptocytosis
  • Congenital elliptocytosis
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyElliptocyte   45028007
Finding siteErythrocyte   41898006
attributes - group3
InterpretsMeasurement of total hemoglobin concentration   441689006
Has interpretationBelow reference range   281300000
attributes - group4
InterpretsHemolysis   404227002
Has interpretationPresent   52101004
attributes - group2
InterpretsRed blood cell count   14089001
Has interpretationBelow reference range   281300000
parents
children
  • Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome   720982007
  • Hereditary elliptocytosis due to abnormal protein 4.1   75443009
  • Hereditary elliptocytosis due to alpha spectrin defect   8857001
  • Hereditary elliptocytosis due to beta spectrin defect in self-association   73073009
  • Hereditary elliptocytosis due to beta spectrin-ankyrin interaction   66262001
  • Hereditary elliptocytosis due to deficiency of protein 4.1   5994005
  • Hereditary elliptocytosis due to glycophorin C deficiency   15121005
  • Hereditary elliptocytosis with transient poikilocytosis   234410008
  • Homozygous hereditary elliptocytosis   1153399000
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
          Erythrocyte membrane abnormality   234409003
            Hereditary elliptocytosis   191169008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Hereditary elliptocytosis   191169008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Hereditary elliptocytosis   191169008

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
            Hereditary hemolytic anemia   38911009
              Hereditary elliptocytosis   191169008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Red blood cell disorder   38292009
          Congenital hemolytic anemia   42601008
            Hereditary elliptocytosis   191169008

ancestors
sorted most to least specific
cpt crosswalks

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