HNSHA due to glutathione synthetase deficiency   111579006

SNOMED CT code


SNOMED code111579006
nameHNSHA due to glutathione synthetase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
synonyms
  • HNSHA due to glutathione synthetase deficiency
  • Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glutathione synthetase deficiency
  • Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to glutathione synthetase deficiency
  • Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency
  • Hereditary nonspherocytic haemolytic anaemia due to glutathione synthetase deficiency
attributes - group3
Has interpretationPresent   52101004
InterpretsHemolysis   404227002
attributes - group5
Due toDeficiency of glutathione synthase   124706000
attributes - group4
Finding siteErythrocyte   41898006
attributes - group1
Has interpretationBelow reference range   281300000
InterpretsRed blood cell count   14089001
attributes - group2
Has interpretationBelow reference range   281300000
InterpretsMeasurement of total hemoglobin concentration   441689006
parents
  • Anemia due to enzyme deficiency   111577008
  • Erythrocyte enzyme deficiency   234401000
  • Hereditary nonspherocytic hemolytic anemia   301317008
  • Autosomal recessive hereditary disorder   85995004
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
        Hemolytic disorder   128086004
          Hemolytic anemia   61261009
            Anemia due to enzyme deficiency   111577008
              HNSHA due to glutathione synthetase deficiency   111579006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Red blood cell disorder   38292009
          Erythrocyte enzyme deficiency   234401000
            HNSHA due to glutathione synthetase deficiency   111579006

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 nonspherocytic hemolytic anemia   301317008
                HNSHA due to glutathione synthetase deficiency   111579006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              HNSHA due to glutathione synthetase deficiency   111579006

ancestors
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